- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.change.history.html b/ActivityDefinition-example-study-data-dictionary-table-1.change.history.html
index 9f39daa4..4a97ae0c 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.change.history.html
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : ActivityDefinition/example-study-data-dictionary-table-1 - Chang
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.html b/ActivityDefinition-example-study-data-dictionary-table-1.html
index 6d9c6e9d..e968af22 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.html
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ Example ActivityDefinition: Data-Dictionary Table
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -283,7 +283,7 @@ Example ActivityDefinition: Data-Dictionary Table
- Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-11-28 09:07:57+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
+ Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-12-09 17:30:30+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
@@ -314,7 +314,7 @@ Example ActivityDefinition: Data-Dictionary Table
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.json b/ActivityDefinition-example-study-data-dictionary-table-1.json
index 22544f39..c0e4005e 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.json
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.json
@@ -1,73 +1,57 @@
-{
- "resourceType": "ActivityDefinition",
- "id": "example-study-data-dictionary-table-1",
- "meta": {
- "profile": [
- "https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/study-data-dictionary-table"
- ]
- },
- "text": {
- "status": "generated",
- "div": "Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-11-28 09:07:57+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
"
- },
- "url": "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1",
- "version": "0.2.0",
- "status": "active",
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "topic": [
- {
- "coding": [
- {
- "system": "https://uts.nlm.nih.gov/uts/umls",
- "code": "C0035168",
- "display": "Research"
- }
- ]
- }
- ],
- "code": {
- "coding": [
- {
- "system": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1",
- "code": "demographics",
- "display": "Demographic data"
- }
- ]
- },
- "observationResultRequirement": [
- {
- "reference": "ObservationDefinition/example-study-data-dictionary-variable-1-1"
- },
- {
- "reference": "ObservationDefinition/example-study-data-dictionary-variable-1-2"
- },
- {
- "reference": "ObservationDefinition/example-study-data-dictionary-variable-1-3"
- },
- {
- "reference": "ObservationDefinition/example-study-data-dictionary-variable-1-4"
- }
- ]
+{
+ "resourceType" : "ActivityDefinition",
+ "id" : "example-study-data-dictionary-table-1",
+ "meta" : {
+ "profile" : ["https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/study-data-dictionary-table"]
+ },
+ "text" : {
+ "status" : "generated",
+ "div" : "Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-12-09 17:30:30+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
"
+ },
+ "url" : "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1",
+ "version" : "0.2.0",
+ "status" : "active",
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "topic" : [{
+ "coding" : [{
+ "system" : "https://uts.nlm.nih.gov/uts/umls",
+ "code" : "C0035168",
+ "display" : "Research"
+ }]
+ }],
+ "code" : {
+ "coding" : [{
+ "system" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1",
+ "code" : "demographics",
+ "display" : "Demographic data"
+ }]
+ },
+ "observationResultRequirement" : [{
+ "reference" : "ObservationDefinition/example-study-data-dictionary-variable-1-1"
+ },
+ {
+ "reference" : "ObservationDefinition/example-study-data-dictionary-variable-1-2"
+ },
+ {
+ "reference" : "ObservationDefinition/example-study-data-dictionary-variable-1-3"
+ },
+ {
+ "reference" : "ObservationDefinition/example-study-data-dictionary-variable-1-4"
+ }]
}
\ No newline at end of file
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.json.html b/ActivityDefinition-example-study-data-dictionary-table-1.json.html
index 0bff53b4..2dc67476 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.json.html
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Data-Dictionary Table - JSON Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -295,12 +295,12 @@ : Data-Dictionary Table - JSON Representation
},
"text" : {
"status" : "generated",
- "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: ActivityDefinition</b><a name=\"example-study-data-dictionary-table-1\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-study-data-dictionary-table.html\">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-11-28 09:07:57+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href=\"https://github.com/nih-ncpi\">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href=\"mailto:meenchul@d3b.center\">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html\">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-1.html\">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-2.html\">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-3.html\">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-4.html\">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>"
+ "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: ActivityDefinition</b><a name=\"example-study-data-dictionary-table-1\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-study-data-dictionary-table.html\">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-12-09 17:30:30+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href=\"https://github.com/nih-ncpi\">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href=\"mailto:meenchul@d3b.center\">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html\">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-1.html\">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-2.html\">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-3.html\">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-4.html\">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>"
},
"url" : "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1",
"version" : "0.2.0",
"status" : "active",
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -387,7 +387,7 @@ : Data-Dictionary Table - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.ttl b/ActivityDefinition-example-study-data-dictionary-table-1.ttl
index 543fc867..7f818d43 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.ttl
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.ttl
@@ -7,23 +7,23 @@
a fhir:ActivityDefinition;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-table-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-table-1"]; #
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/study-data-dictionary-table";
fhir:index 0;
fhir:link
]
- ];
+ ]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
- fhir:Narrative.div "Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-11-28 09:07:57+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
"
- ];
- fhir:ActivityDefinition.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1"];
- fhir:ActivityDefinition.version [ fhir:value "0.2.0"];
- fhir:ActivityDefinition.status [ fhir:value "active"];
- fhir:ActivityDefinition.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:ActivityDefinition.publisher [ fhir:value "NCPI FHIR Working Group"];
+ fhir:Narrative.div "Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-12-09 17:30:30+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
"
+ ]; #
+ fhir:ActivityDefinition.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1"]; #
+ fhir:ActivityDefinition.version [ fhir:value "0.2.0"]; #
+ fhir:ActivityDefinition.status [ fhir:value "active"]; #
+ fhir:ActivityDefinition.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:ActivityDefinition.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:ActivityDefinition.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -41,7 +41,7 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
+ ]; #
fhir:ActivityDefinition.topic [
fhir:index 0;
fhir:CodeableConcept.coding [
@@ -50,7 +50,7 @@
fhir:Coding.code [ fhir:value "C0035168" ];
fhir:Coding.display [ fhir:value "Research" ]
]
- ];
+ ]; #
fhir:ActivityDefinition.code [
fhir:CodeableConcept.coding [
fhir:index 0;
@@ -58,7 +58,7 @@
fhir:Coding.code [ fhir:value "demographics" ];
fhir:Coding.display [ fhir:value "Demographic data" ]
]
- ];
+ ]; #
fhir:ActivityDefinition.observationResultRequirement [
fhir:index 0;
fhir:link ;
@@ -75,7 +75,7 @@
fhir:index 3;
fhir:link ;
fhir:Reference.reference [ fhir:value "ObservationDefinition/example-study-data-dictionary-variable-1-4" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.ttl.html b/ActivityDefinition-example-study-data-dictionary-table-1.ttl.html
index d866fa08..3b548eca 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.ttl.html
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Data-Dictionary Table - TTL Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,22 +294,22 @@ : Data-Dictionary Table - TTL Representation
a fhir:ActivityDefinition;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-table-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-table-1"]; #
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/study-data-dictionary-table";
fhir:index 0;
fhir:link <https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/study-data-dictionary-table> ]
- ];
+ ]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
- fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: ActivityDefinition</b><a name=\"example-study-data-dictionary-table-1\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-study-data-dictionary-table.html\">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-11-28 09:07:57+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href=\"https://github.com/nih-ncpi\">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href=\"mailto:meenchul@d3b.center\">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html\">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-1.html\">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-2.html\">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-3.html\">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-4.html\">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>"
- ];
- fhir:ActivityDefinition.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1"];
- fhir:ActivityDefinition.version [ fhir:value "0.2.0"];
- fhir:ActivityDefinition.status [ fhir:value "active"];
- fhir:ActivityDefinition.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:ActivityDefinition.publisher [ fhir:value "NCPI FHIR Working Group"];
+ fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: ActivityDefinition</b><a name=\"example-study-data-dictionary-table-1\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-study-data-dictionary-table.html\">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-12-09 17:30:30+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href=\"https://github.com/nih-ncpi\">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href=\"mailto:meenchul@d3b.center\">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html\">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-1.html\">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-2.html\">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-3.html\">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href=\"ObservationDefinition-example-study-data-dictionary-variable-1-4.html\">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>"
+ ]; #
+ fhir:ActivityDefinition.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1"]; #
+ fhir:ActivityDefinition.version [ fhir:value "0.2.0"]; #
+ fhir:ActivityDefinition.status [ fhir:value "active"]; #
+ fhir:ActivityDefinition.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:ActivityDefinition.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:ActivityDefinition.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -325,7 +325,7 @@ : Data-Dictionary Table - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
+ ]; #
fhir:ActivityDefinition.topic [
fhir:index 0;
fhir:CodeableConcept.coding [
@@ -333,14 +333,14 @@ : Data-Dictionary Table - TTL Representation
fhir:Coding.system [ fhir:value "https://uts.nlm.nih.gov/uts/umls" ];
fhir:Coding.code [ fhir:value "C0035168" ];
fhir:Coding.display [ fhir:value "Research" ] ]
- ];
+ ]; #
fhir:ActivityDefinition.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1" ];
fhir:Coding.code [ fhir:value "demographics" ];
fhir:Coding.display [ fhir:value "Demographic data" ] ]
- ];
+ ]; #
fhir:ActivityDefinition.observationResultRequirement [
fhir:index 0;
fhir:Reference.reference [ fhir:value "ObservationDefinition/example-study-data-dictionary-variable-1-1" ]
@@ -353,7 +353,7 @@ : Data-Dictionary Table - TTL Representation
], [
fhir:index 3;
fhir:Reference.reference [ fhir:value "ObservationDefinition/example-study-data-dictionary-variable-1-4" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -391,7 +391,7 @@ : Data-Dictionary Table - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.xml b/ActivityDefinition-example-study-data-dictionary-table-1.xml
index 58b6e40a..5134b3e2 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.xml
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.xml
@@ -6,12 +6,12 @@
- Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-11-28 09:07:57+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
+ Generated Narrative: ActivityDefinition
url: https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1
version: 0.2.0
status: active
date: 2022-12-09 17:30:30+0000
publisher: NCPI FHIR Working Group
contact: NCPI FHIR Working Group: https://github.com/nih-ncpi, Meen Chul Kim: meenchul@d3b.center
topic: Research (umls#C0035168)
code: Demographic data (Dataset CodeSystem (lists all tables)#demographics)
observationResultRequirement:
-
+
diff --git a/ActivityDefinition-example-study-data-dictionary-table-1.xml.html b/ActivityDefinition-example-study-data-dictionary-table-1.xml.html
index 1217639e..08167fa8 100644
--- a/ActivityDefinition-example-study-data-dictionary-table-1.xml.html
+++ b/ActivityDefinition-example-study-data-dictionary-table-1.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Data-Dictionary Table - XML Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,13 +294,13 @@ : Data-Dictionary Table - XML Representation
</meta>
<text>
<status value="generated"/>
- <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: ActivityDefinition</b><a name="example-study-data-dictionary-table-1"> </a></p><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-study-data-dictionary-table.html">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-11-28 09:07:57+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href="https://github.com/nih-ncpi">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href="mailto:meenchul@d3b.center">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-1.html">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-2.html">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-3.html">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-4.html">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>
+ <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: ActivityDefinition</b><a name="example-study-data-dictionary-table-1"> </a></p><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Resource ActivityDefinition "example-study-data-dictionary-table-1" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-study-data-dictionary-table.html">NCPI Study Data Dictionary Data Table</a></p></div><p><b>url</b>: <code>https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1</code></p><p><b>version</b>: 0.2.0</p><p><b>status</b>: active</p><p><b>date</b>: 2022-12-09 17:30:30+0000</p><p><b>publisher</b>: NCPI FHIR Working Group</p><p><b>contact</b>: NCPI FHIR Working Group: <a href="https://github.com/nih-ncpi">https://github.com/nih-ncpi</a>, Meen Chul Kim: <a href="mailto:meenchul@d3b.center">meenchul@d3b.center</a></p><p><b>topic</b>: Research <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (umls#C0035168)</span></p><p><b>code</b>: Demographic data <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html">Dataset CodeSystem (lists all tables)</a>#demographics)</span></p><p><b>observationResultRequirement</b>: </p><ul><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-1.html">ObservationDefinition/example-study-data-dictionary-variable-1-1</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-2.html">ObservationDefinition/example-study-data-dictionary-variable-1-2</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-3.html">ObservationDefinition/example-study-data-dictionary-variable-1-3</a></li><li><a href="ObservationDefinition-example-study-data-dictionary-variable-1-4.html">ObservationDefinition/example-study-data-dictionary-variable-1-4</a></li></ul></div>
</text>
<url
value="https://nih-ncpi.github.io/ncpi-fhir-ig/ActivityDefinition/example-study-data-dictionary-table-1"/>
<version value="0.2.0"/>
<status value="active"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -378,7 +378,7 @@ : Data-Dictionary Table - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode-testing.html b/CodeSystem-ConditionInheritanceMode-testing.html
index 1ca0a9c4..aff16bfb 100644
--- a/CodeSystem-ConditionInheritanceMode-testing.html
+++ b/CodeSystem-ConditionInheritanceMode-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: Condition Inheritance Pattern - Testing
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: Condition Inheritance Pattern - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode.change.history.html b/CodeSystem-ConditionInheritanceMode.change.history.html
index 2226fe97..9a5c8c69 100644
--- a/CodeSystem-ConditionInheritanceMode.change.history.html
+++ b/CodeSystem-ConditionInheritanceMode.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : ConditionInheritanceMode - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode.html b/CodeSystem-ConditionInheritanceMode.html
index 12dc7a3e..eb948141 100644
--- a/CodeSystem-ConditionInheritanceMode.html
+++ b/CodeSystem-ConditionInheritanceMode.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: Condition Inheritance Pattern
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -353,7 +353,7 @@ CodeSystem: Condition Inheritance Pattern
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode.json b/CodeSystem-ConditionInheritanceMode.json
index 14db38a3..c83154ae 100644
--- a/CodeSystem-ConditionInheritanceMode.json
+++ b/CodeSystem-ConditionInheritanceMode.json
@@ -1,151 +1,139 @@
-{
- "resourceType": "CodeSystem",
- "id": "ConditionInheritanceMode",
- "text": {
- "status": "generated",
- "div": "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode
defines the following codes:
Code | Display |
GENO:0000143 | Codominant inheritance |
GENO:0000889 | Unknown inheritance |
GENO:0000892 | Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
GENO:0000893 | Mitochondrial inheritance (primarily or exclusively homoplasmic) |
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0001417 | X-linked inheritance |
HP:0001419 | X-linked inheritance (recessive) |
HP:0001423 | X-linked inheritance (dominant) |
HP:0001426 | Multifactorial inheritance |
HP:0001427 | Mitochondrial inheritance |
HP:0001428 | Somatic mutation |
HP:0001450 | Y-linked inheritance |
HP:0001470 | Autosomal dominant inheritance (sex-limited) |
HP:0003743 | Genetic anticipation |
HP:0003745 | Sporadic |
HP:0010983 | Oligogenic |
HP:0012274 | Autosomal dominant inheritance (with paternal imprinting) |
HP:0012275 | Autosomal dominant inheritance (with maternal imprinting) |
HP:0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) |
HP:0031362 | Autosomal recessive inheritance (sex-limited) |
SEPIO-CG:97020 | Semidominant inheritance |
SEPIO-CG:97021 | X-linked inheritance (primarily recessive with milder female expression) |
SEPIO-CG:97022 | Autosomal dominant inheritance (with genetic anticipation) |
SEPIO-CG:97023 | Autosomal recessive inheritance (with genetic anticipation) |
"
- },
- "url": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode",
- "version": "0.2.0",
- "name": "ConditionInheritanceMode",
- "title": "Condition Inheritance Pattern",
- "status": "active",
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "A set of terms that describe the transmission pattern of a condition in a pedigree.",
- "jurisdiction": [
- {
- "coding": [
- {
- "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
- "code": "001"
- }
- ]
- }
- ],
- "content": "complete",
- "count": 25,
- "concept": [
- {
- "code": "GENO:0000143",
- "display": "Codominant inheritance"
- },
- {
- "code": "GENO:0000889",
- "display": "Unknown inheritance"
- },
- {
- "code": "GENO:0000892",
- "display": "Mitochondrial inheritance (primarily or exclusively heteroplasmic)"
- },
- {
- "code": "GENO:0000893",
- "display": "Mitochondrial inheritance (primarily or exclusively homoplasmic)"
- },
- {
- "code": "HP:0000006",
- "display": "Autosomal dominant inheritance"
- },
- {
- "code": "HP:0000007",
- "display": "Autosomal recessive inheritance"
- },
- {
- "code": "HP:0001417",
- "display": "X-linked inheritance"
- },
- {
- "code": "HP:0001419",
- "display": "X-linked inheritance (recessive)"
- },
- {
- "code": "HP:0001423",
- "display": "X-linked inheritance (dominant)"
- },
- {
- "code": "HP:0001426",
- "display": "Multifactorial inheritance"
- },
- {
- "code": "HP:0001427",
- "display": "Mitochondrial inheritance"
- },
- {
- "code": "HP:0001428",
- "display": "Somatic mutation"
- },
- {
- "code": "HP:0001450",
- "display": "Y-linked inheritance"
- },
- {
- "code": "HP:0001470",
- "display": "Autosomal dominant inheritance (sex-limited)"
- },
- {
- "code": "HP:0003743",
- "display": "Genetic anticipation"
- },
- {
- "code": "HP:0003745",
- "display": "Sporadic"
- },
- {
- "code": "HP:0010983",
- "display": "Oligogenic"
- },
- {
- "code": "HP:0012274",
- "display": "Autosomal dominant inheritance (with paternal imprinting)"
- },
- {
- "code": "HP:0012275",
- "display": "Autosomal dominant inheritance (with maternal imprinting)"
- },
- {
- "code": "HP:0025352",
- "display": "Autosomal dominant inheritance (primarily or exclusively de novo)"
- },
- {
- "code": "HP:0031362",
- "display": "Autosomal recessive inheritance (sex-limited)"
- },
- {
- "code": "SEPIO-CG:97020",
- "display": "Semidominant inheritance"
- },
- {
- "code": "SEPIO-CG:97021",
- "display": "X-linked inheritance (primarily recessive with milder female expression)"
- },
- {
- "code": "SEPIO-CG:97022",
- "display": "Autosomal dominant inheritance (with genetic anticipation)"
- },
- {
- "code": "SEPIO-CG:97023",
- "display": "Autosomal recessive inheritance (with genetic anticipation)"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "ConditionInheritanceMode",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode
defines the following codes:
Code | Display |
GENO:0000143 | Codominant inheritance |
GENO:0000889 | Unknown inheritance |
GENO:0000892 | Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
GENO:0000893 | Mitochondrial inheritance (primarily or exclusively homoplasmic) |
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0001417 | X-linked inheritance |
HP:0001419 | X-linked inheritance (recessive) |
HP:0001423 | X-linked inheritance (dominant) |
HP:0001426 | Multifactorial inheritance |
HP:0001427 | Mitochondrial inheritance |
HP:0001428 | Somatic mutation |
HP:0001450 | Y-linked inheritance |
HP:0001470 | Autosomal dominant inheritance (sex-limited) |
HP:0003743 | Genetic anticipation |
HP:0003745 | Sporadic |
HP:0010983 | Oligogenic |
HP:0012274 | Autosomal dominant inheritance (with paternal imprinting) |
HP:0012275 | Autosomal dominant inheritance (with maternal imprinting) |
HP:0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) |
HP:0031362 | Autosomal recessive inheritance (sex-limited) |
SEPIO-CG:97020 | Semidominant inheritance |
SEPIO-CG:97021 | X-linked inheritance (primarily recessive with milder female expression) |
SEPIO-CG:97022 | Autosomal dominant inheritance (with genetic anticipation) |
SEPIO-CG:97023 | Autosomal recessive inheritance (with genetic anticipation) |
"
+ },
+ "url" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode",
+ "version" : "0.2.0",
+ "name" : "ConditionInheritanceMode",
+ "title" : "Condition Inheritance Pattern",
+ "status" : "active",
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "A set of terms that describe the transmission pattern of a condition in a pedigree.",
+ "jurisdiction" : [{
+ "coding" : [{
+ "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
+ "code" : "001"
+ }]
+ }],
+ "content" : "complete",
+ "count" : 25,
+ "concept" : [{
+ "code" : "GENO:0000143",
+ "display" : "Codominant inheritance"
+ },
+ {
+ "code" : "GENO:0000889",
+ "display" : "Unknown inheritance"
+ },
+ {
+ "code" : "GENO:0000892",
+ "display" : "Mitochondrial inheritance (primarily or exclusively heteroplasmic)"
+ },
+ {
+ "code" : "GENO:0000893",
+ "display" : "Mitochondrial inheritance (primarily or exclusively homoplasmic)"
+ },
+ {
+ "code" : "HP:0000006",
+ "display" : "Autosomal dominant inheritance"
+ },
+ {
+ "code" : "HP:0000007",
+ "display" : "Autosomal recessive inheritance"
+ },
+ {
+ "code" : "HP:0001417",
+ "display" : "X-linked inheritance"
+ },
+ {
+ "code" : "HP:0001419",
+ "display" : "X-linked inheritance (recessive)"
+ },
+ {
+ "code" : "HP:0001423",
+ "display" : "X-linked inheritance (dominant)"
+ },
+ {
+ "code" : "HP:0001426",
+ "display" : "Multifactorial inheritance"
+ },
+ {
+ "code" : "HP:0001427",
+ "display" : "Mitochondrial inheritance"
+ },
+ {
+ "code" : "HP:0001428",
+ "display" : "Somatic mutation"
+ },
+ {
+ "code" : "HP:0001450",
+ "display" : "Y-linked inheritance"
+ },
+ {
+ "code" : "HP:0001470",
+ "display" : "Autosomal dominant inheritance (sex-limited)"
+ },
+ {
+ "code" : "HP:0003743",
+ "display" : "Genetic anticipation"
+ },
+ {
+ "code" : "HP:0003745",
+ "display" : "Sporadic"
+ },
+ {
+ "code" : "HP:0010983",
+ "display" : "Oligogenic"
+ },
+ {
+ "code" : "HP:0012274",
+ "display" : "Autosomal dominant inheritance (with paternal imprinting)"
+ },
+ {
+ "code" : "HP:0012275",
+ "display" : "Autosomal dominant inheritance (with maternal imprinting)"
+ },
+ {
+ "code" : "HP:0025352",
+ "display" : "Autosomal dominant inheritance (primarily or exclusively de novo)"
+ },
+ {
+ "code" : "HP:0031362",
+ "display" : "Autosomal recessive inheritance (sex-limited)"
+ },
+ {
+ "code" : "SEPIO-CG:97020",
+ "display" : "Semidominant inheritance"
+ },
+ {
+ "code" : "SEPIO-CG:97021",
+ "display" : "X-linked inheritance (primarily recessive with milder female expression)"
+ },
+ {
+ "code" : "SEPIO-CG:97022",
+ "display" : "Autosomal dominant inheritance (with genetic anticipation)"
+ },
+ {
+ "code" : "SEPIO-CG:97023",
+ "display" : "Autosomal recessive inheritance (with genetic anticipation)"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-ConditionInheritanceMode.json.html b/CodeSystem-ConditionInheritanceMode.json.html
index 3199bad6..ab6c4bed 100644
--- a/CodeSystem-ConditionInheritanceMode.json.html
+++ b/CodeSystem-ConditionInheritanceMode.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Condition Inheritance Pattern - JSON Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -297,7 +297,7 @@ : Condition Inheritance Pattern - JSON Representation
"name" : "ConditionInheritanceMode",
"title" : "Condition Inheritance Pattern",
"status" : "active",
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -465,7 +465,7 @@ : Condition Inheritance Pattern - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode.ttl b/CodeSystem-ConditionInheritanceMode.ttl
index 14f792c6..4ce59608 100644
--- a/CodeSystem-ConditionInheritanceMode.ttl
+++ b/CodeSystem-ConditionInheritanceMode.ttl
@@ -7,18 +7,18 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "ConditionInheritanceMode"];
+ fhir:Resource.id [ fhir:value "ConditionInheritanceMode"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode
defines the following codes:
Code | Display |
GENO:0000143 | Codominant inheritance |
GENO:0000889 | Unknown inheritance |
GENO:0000892 | Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
GENO:0000893 | Mitochondrial inheritance (primarily or exclusively homoplasmic) |
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0001417 | X-linked inheritance |
HP:0001419 | X-linked inheritance (recessive) |
HP:0001423 | X-linked inheritance (dominant) |
HP:0001426 | Multifactorial inheritance |
HP:0001427 | Mitochondrial inheritance |
HP:0001428 | Somatic mutation |
HP:0001450 | Y-linked inheritance |
HP:0001470 | Autosomal dominant inheritance (sex-limited) |
HP:0003743 | Genetic anticipation |
HP:0003745 | Sporadic |
HP:0010983 | Oligogenic |
HP:0012274 | Autosomal dominant inheritance (with paternal imprinting) |
HP:0012275 | Autosomal dominant inheritance (with maternal imprinting) |
HP:0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) |
HP:0031362 | Autosomal recessive inheritance (sex-limited) |
SEPIO-CG:97020 | Semidominant inheritance |
SEPIO-CG:97021 | X-linked inheritance (primarily recessive with milder female expression) |
SEPIO-CG:97022 | Autosomal dominant inheritance (with genetic anticipation) |
SEPIO-CG:97023 | Autosomal recessive inheritance (with genetic anticipation) |
"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ConditionInheritanceMode"];
- fhir:CodeSystem.title [ fhir:value "Condition Inheritance Pattern"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ConditionInheritanceMode"]; #
+ fhir:CodeSystem.title [ fhir:value "Condition Inheritance Pattern"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -36,8 +36,8 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "A set of terms that describe the transmission pattern of a condition in a pedigree."];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "A set of terms that describe the transmission pattern of a condition in a pedigree."]; #
fhir:CodeSystem.jurisdiction [
fhir:index 0;
fhir:CodeableConcept.coding [
@@ -45,9 +45,9 @@
fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ];
fhir:Coding.code [ fhir:value "001" ]
]
- ];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "25"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "25"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000143" ];
@@ -148,7 +148,7 @@
fhir:index 24;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97023" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal recessive inheritance (with genetic anticipation)" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-ConditionInheritanceMode.ttl.html b/CodeSystem-ConditionInheritanceMode.ttl.html
index 6c3d8db4..22652944 100644
--- a/CodeSystem-ConditionInheritanceMode.ttl.html
+++ b/CodeSystem-ConditionInheritanceMode.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Condition Inheritance Pattern - TTL Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,18 +294,18 @@ : Condition Inheritance Pattern - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "ConditionInheritanceMode"];
+ fhir:Resource.id [ fhir:value "ConditionInheritanceMode"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">GENO:0000143<a name=\"ConditionInheritanceMode-GENO.580000143\"> </a></td><td>Codominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000889<a name=\"ConditionInheritanceMode-GENO.580000889\"> </a></td><td>Unknown inheritance</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000892<a name=\"ConditionInheritanceMode-GENO.580000892\"> </a></td><td>Mitochondrial inheritance (primarily or exclusively heteroplasmic)</td></tr><tr><td style=\"white-space:nowrap\">GENO:0000893<a name=\"ConditionInheritanceMode-GENO.580000893\"> </a></td><td>Mitochondrial inheritance (primarily or exclusively homoplasmic)</td></tr><tr><td style=\"white-space:nowrap\">HP:0000006<a name=\"ConditionInheritanceMode-HP.580000006\"> </a></td><td>Autosomal dominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0000007<a name=\"ConditionInheritanceMode-HP.580000007\"> </a></td><td>Autosomal recessive inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001417<a name=\"ConditionInheritanceMode-HP.580001417\"> </a></td><td>X-linked inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001419<a name=\"ConditionInheritanceMode-HP.580001419\"> </a></td><td>X-linked inheritance (recessive)</td></tr><tr><td style=\"white-space:nowrap\">HP:0001423<a name=\"ConditionInheritanceMode-HP.580001423\"> </a></td><td>X-linked inheritance (dominant)</td></tr><tr><td style=\"white-space:nowrap\">HP:0001426<a name=\"ConditionInheritanceMode-HP.580001426\"> </a></td><td>Multifactorial inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001427<a name=\"ConditionInheritanceMode-HP.580001427\"> </a></td><td>Mitochondrial inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001428<a name=\"ConditionInheritanceMode-HP.580001428\"> </a></td><td>Somatic mutation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001450<a name=\"ConditionInheritanceMode-HP.580001450\"> </a></td><td>Y-linked inheritance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001470<a name=\"ConditionInheritanceMode-HP.580001470\"> </a></td><td>Autosomal dominant inheritance (sex-limited)</td></tr><tr><td style=\"white-space:nowrap\">HP:0003743<a name=\"ConditionInheritanceMode-HP.580003743\"> </a></td><td>Genetic anticipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0003745<a name=\"ConditionInheritanceMode-HP.580003745\"> </a></td><td>Sporadic</td></tr><tr><td style=\"white-space:nowrap\">HP:0010983<a name=\"ConditionInheritanceMode-HP.580010983\"> </a></td><td>Oligogenic</td></tr><tr><td style=\"white-space:nowrap\">HP:0012274<a name=\"ConditionInheritanceMode-HP.580012274\"> </a></td><td>Autosomal dominant inheritance (with paternal imprinting)</td></tr><tr><td style=\"white-space:nowrap\">HP:0012275<a name=\"ConditionInheritanceMode-HP.580012275\"> </a></td><td>Autosomal dominant inheritance (with maternal imprinting)</td></tr><tr><td style=\"white-space:nowrap\">HP:0025352<a name=\"ConditionInheritanceMode-HP.580025352\"> </a></td><td>Autosomal dominant inheritance (primarily or exclusively de novo)</td></tr><tr><td style=\"white-space:nowrap\">HP:0031362<a name=\"ConditionInheritanceMode-HP.580031362\"> </a></td><td>Autosomal recessive inheritance (sex-limited)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97020<a name=\"ConditionInheritanceMode-SEPIO-CG.5897020\"> </a></td><td>Semidominant inheritance</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97021<a name=\"ConditionInheritanceMode-SEPIO-CG.5897021\"> </a></td><td>X-linked inheritance (primarily recessive with milder female expression)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97022<a name=\"ConditionInheritanceMode-SEPIO-CG.5897022\"> </a></td><td>Autosomal dominant inheritance (with genetic anticipation)</td></tr><tr><td style=\"white-space:nowrap\">SEPIO-CG:97023<a name=\"ConditionInheritanceMode-SEPIO-CG.5897023\"> </a></td><td>Autosomal recessive inheritance (with genetic anticipation)</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ConditionInheritanceMode"];
- fhir:CodeSystem.title [ fhir:value "Condition Inheritance Pattern"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ConditionInheritanceMode"]; #
+ fhir:CodeSystem.title [ fhir:value "Condition Inheritance Pattern"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -321,17 +321,17 @@ : Condition Inheritance Pattern - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "A set of terms that describe the transmission pattern of a condition in a pedigree."];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "A set of terms that describe the transmission pattern of a condition in a pedigree."]; #
fhir:CodeSystem.jurisdiction [
fhir:index 0;
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ];
fhir:Coding.code [ fhir:value "001" ] ]
- ];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "25"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "25"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "GENO:0000143" ];
@@ -432,7 +432,7 @@ : Condition Inheritance Pattern - TTL Representation
fhir:index 24;
fhir:CodeSystem.concept.code [ fhir:value "SEPIO-CG:97023" ];
fhir:CodeSystem.concept.display [ fhir:value "Autosomal recessive inheritance (with genetic anticipation)" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -470,7 +470,7 @@ : Condition Inheritance Pattern - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ConditionInheritanceMode.xlsx b/CodeSystem-ConditionInheritanceMode.xlsx
index e939dfd8..e05b939f 100644
Binary files a/CodeSystem-ConditionInheritanceMode.xlsx and b/CodeSystem-ConditionInheritanceMode.xlsx differ
diff --git a/CodeSystem-ConditionInheritanceMode.xml b/CodeSystem-ConditionInheritanceMode.xml
index 32655d3d..b64f2e9c 100644
--- a/CodeSystem-ConditionInheritanceMode.xml
+++ b/CodeSystem-ConditionInheritanceMode.xml
@@ -10,7 +10,7 @@
-
+
diff --git a/CodeSystem-ConditionInheritanceMode.xml.html b/CodeSystem-ConditionInheritanceMode.xml.html
index 1a2e3210..c07ab9cf 100644
--- a/CodeSystem-ConditionInheritanceMode.xml.html
+++ b/CodeSystem-ConditionInheritanceMode.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Condition Inheritance Pattern - XML Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Condition Inheritance Pattern - XML Representation
<name value="ConditionInheritanceMode"/>
<title value="Condition Inheritance Pattern"/>
<status value="active"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -463,7 +463,7 @@ : Condition Inheritance Pattern - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1-testing.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1-testing.html
index f67d279b..49739c5c 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1-testing.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: Dataset CodeSystem (lists all tables) - Testing
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: Dataset CodeSystem (lists all tables) - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.change.history.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.change.history.html
index 598e1bad..ffe3140a 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.change.history.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : ExampleStudyDataDictionaryStudyDatasetCS1 - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html
index 6db785db..9b3465ac 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: Dataset CodeSystem (lists all tables)
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -356,7 +356,7 @@ CodeSystem: Dataset CodeSystem (lists all tables)
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json
index 83b3be6c..daaf39b4 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json
@@ -1,44 +1,36 @@
-{
- "resourceType": "CodeSystem",
- "id": "example-study-data-dictionary-dataset-codesystem-1",
- "text": {
- "status": "generated",
- "div": "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1
defines the following codes:
"
- },
- "url": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1",
- "version": "0.2.0",
- "name": "ExampleStudyDataDictionaryStudyDatasetCS1",
- "title": "Dataset CodeSystem (lists all tables)",
- "status": "active",
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "Example CodeSystem for a data-dictionary dataset with only 1 table.",
- "content": "complete",
- "count": 1,
- "concept": [
- {
- "code": "demographics"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "example-study-data-dictionary-dataset-codesystem-1",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1
defines the following codes:
"
+ },
+ "url" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1",
+ "version" : "0.2.0",
+ "name" : "ExampleStudyDataDictionaryStudyDatasetCS1",
+ "title" : "Dataset CodeSystem (lists all tables)",
+ "status" : "active",
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "Example CodeSystem for a data-dictionary dataset with only 1 table.",
+ "content" : "complete",
+ "count" : 1,
+ "concept" : [{
+ "code" : "demographics"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json.html
index 55094652..0bf5bb0d 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Dataset CodeSystem (lists all tables) - JSON Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -297,7 +297,7 @@ : Dataset CodeSystem (lists all tables) - JSON Representation
"name" : "ExampleStudyDataDictionaryStudyDatasetCS1",
"title" : "Dataset CodeSystem (lists all tables)",
"status" : "active",
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -358,7 +358,7 @@ : Dataset CodeSystem (lists all tables) - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl
index 3bfa01b6..989bb18f 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl
@@ -7,18 +7,18 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-dataset-codesystem-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-dataset-codesystem-1"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1
defines the following codes:
"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyDatasetCS1"];
- fhir:CodeSystem.title [ fhir:value "Dataset CodeSystem (lists all tables)"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyDatasetCS1"]; #
+ fhir:CodeSystem.title [ fhir:value "Dataset CodeSystem (lists all tables)"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -36,14 +36,14 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary dataset with only 1 table."];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "1"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary dataset with only 1 table."]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "1"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "demographics" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl.html
index 38c30088..fc397beb 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Dataset CodeSystem (lists all tables) - TTL Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,18 +294,18 @@ : Dataset CodeSystem (lists all tables) - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-dataset-codesystem-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-dataset-codesystem-1"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td></tr><tr><td style=\"white-space:nowrap\">demographics<a name=\"example-study-data-dictionary-dataset-codesystem-1-demographics\"> </a></td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyDatasetCS1"];
- fhir:CodeSystem.title [ fhir:value "Dataset CodeSystem (lists all tables)"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyDatasetCS1"]; #
+ fhir:CodeSystem.title [ fhir:value "Dataset CodeSystem (lists all tables)"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -321,14 +321,14 @@ : Dataset CodeSystem (lists all tables) - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary dataset with only 1 table."];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "1"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary dataset with only 1 table."]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "1"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "demographics" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -366,7 +366,7 @@ : Dataset CodeSystem (lists all tables) - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xlsx b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xlsx
index 9c8071f5..742c388e 100644
Binary files a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xlsx and b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xlsx differ
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml
index 3d077969..b976635c 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml
@@ -10,7 +10,7 @@
-
+
diff --git a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml.html b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml.html
index c25bfc3b..90bafb5e 100644
--- a/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml.html
+++ b/CodeSystem-example-study-data-dictionary-dataset-codesystem-1.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Dataset CodeSystem (lists all tables) - XML Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Dataset CodeSystem (lists all tables) - XML Representation
<name value="ExampleStudyDataDictionaryStudyDatasetCS1"/>
<title value="Dataset CodeSystem (lists all tables)"/>
<status value="active"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -352,7 +352,7 @@ : Dataset CodeSystem (lists all tables) - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1-testing.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1-testing.html
index 4b5b12bc..6d6a46b4 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1-testing.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: Datatable CodeSystem (lists all variables) - Testing
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: Datatable CodeSystem (lists all variables) - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.change.history.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.change.history.html
index 160173b3..01ad6ff5 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.change.history.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : ExampleStudyDataDictionaryStudyTableCS1 - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.html
index feea0817..49e14de4 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: Datatable CodeSystem (lists all variables)
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -359,7 +359,7 @@ CodeSystem: Datatable CodeSystem (lists all variables)
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json
index 0d03573b..dbb7eb32 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json
@@ -1,61 +1,53 @@
-{
- "resourceType": "CodeSystem",
- "id": "example-study-data-dictionary-datatable-codesystem-1",
- "text": {
- "status": "generated",
- "div": "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1
defines the following codes:
Code | Display |
subjectid | Subject's Unique Identifier |
gender | Gender |
age_at_enrollment | Subject's Age at Enrollment in days |
bmi | Subject's BMI, Measured at Enrollment |
status | Subject's status (Case or Control) |
"
- },
- "url": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1",
- "version": "0.2.0",
- "name": "ExampleStudyDataDictionaryStudyTableCS1",
- "title": "Datatable CodeSystem (lists all variables)",
- "status": "active",
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "Example CodeSystem for a data-dictionary table with 4 variables represented as codes.",
- "content": "complete",
- "count": 5,
- "concept": [
- {
- "code": "subjectid",
- "display": "Subject's Unique Identifier"
- },
- {
- "code": "gender",
- "display": "Gender"
- },
- {
- "code": "age_at_enrollment",
- "display": "Subject's Age at Enrollment in days"
- },
- {
- "code": "bmi",
- "display": "Subject's BMI, Measured at Enrollment"
- },
- {
- "code": "status",
- "display": "Subject's status (Case or Control)"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "example-study-data-dictionary-datatable-codesystem-1",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1
defines the following codes:
Code | Display |
subjectid | Subject's Unique Identifier |
gender | Gender |
age_at_enrollment | Subject's Age at Enrollment in days |
bmi | Subject's BMI, Measured at Enrollment |
status | Subject's status (Case or Control) |
"
+ },
+ "url" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1",
+ "version" : "0.2.0",
+ "name" : "ExampleStudyDataDictionaryStudyTableCS1",
+ "title" : "Datatable CodeSystem (lists all variables)",
+ "status" : "active",
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "Example CodeSystem for a data-dictionary table with 4 variables represented as codes.",
+ "content" : "complete",
+ "count" : 5,
+ "concept" : [{
+ "code" : "subjectid",
+ "display" : "Subject's Unique Identifier"
+ },
+ {
+ "code" : "gender",
+ "display" : "Gender"
+ },
+ {
+ "code" : "age_at_enrollment",
+ "display" : "Subject's Age at Enrollment in days"
+ },
+ {
+ "code" : "bmi",
+ "display" : "Subject's BMI, Measured at Enrollment"
+ },
+ {
+ "code" : "status",
+ "display" : "Subject's status (Case or Control)"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json.html
index a88a3596..b2ffd08f 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Datatable CodeSystem (lists all variables) - JSON Representation
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -297,7 +297,7 @@ : Datatable CodeSystem (lists all variables) - JSON Representation
"name" : "ExampleStudyDataDictionaryStudyTableCS1",
"title" : "Datatable CodeSystem (lists all variables)",
"status" : "active",
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -375,7 +375,7 @@ : Datatable CodeSystem (lists all variables) - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl
index 905c7ddd..edd2a68d 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl
@@ -7,18 +7,18 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-datatable-codesystem-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-datatable-codesystem-1"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1
defines the following codes:
Code | Display |
subjectid | Subject's Unique Identifier |
gender | Gender |
age_at_enrollment | Subject's Age at Enrollment in days |
bmi | Subject's BMI, Measured at Enrollment |
status | Subject's status (Case or Control) |
"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyTableCS1"];
- fhir:CodeSystem.title [ fhir:value "Datatable CodeSystem (lists all variables)"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyTableCS1"]; #
+ fhir:CodeSystem.title [ fhir:value "Datatable CodeSystem (lists all variables)"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -36,10 +36,10 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary table with 4 variables represented as codes."];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "5"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary table with 4 variables represented as codes."]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "5"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "subjectid" ];
@@ -60,7 +60,7 @@
fhir:index 4;
fhir:CodeSystem.concept.code [ fhir:value "status" ];
fhir:CodeSystem.concept.display [ fhir:value "Subject's status (Case or Control)" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl.html
index cfdc1a5c..17dd035e 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Datatable CodeSystem (lists all variables) - TTL Representation<
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,18 +294,18 @@ : Datatable CodeSystem (lists all variables) - TTL Representation<
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "example-study-data-dictionary-datatable-codesystem-1"];
+ fhir:Resource.id [ fhir:value "example-study-data-dictionary-datatable-codesystem-1"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">subjectid<a name=\"example-study-data-dictionary-datatable-codesystem-1-subjectid\"> </a></td><td>Subject's Unique Identifier</td></tr><tr><td style=\"white-space:nowrap\">gender<a name=\"example-study-data-dictionary-datatable-codesystem-1-gender\"> </a></td><td>Gender</td></tr><tr><td style=\"white-space:nowrap\">age_at_enrollment<a name=\"example-study-data-dictionary-datatable-codesystem-1-age_at_enrollment\"> </a></td><td>Subject's Age at Enrollment in days</td></tr><tr><td style=\"white-space:nowrap\">bmi<a name=\"example-study-data-dictionary-datatable-codesystem-1-bmi\"> </a></td><td>Subject's BMI, Measured at Enrollment</td></tr><tr><td style=\"white-space:nowrap\">status<a name=\"example-study-data-dictionary-datatable-codesystem-1-status\"> </a></td><td>Subject's status (Case or Control)</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyTableCS1"];
- fhir:CodeSystem.title [ fhir:value "Datatable CodeSystem (lists all variables)"];
- fhir:CodeSystem.status [ fhir:value "active"];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-datatable-codesystem-1"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "ExampleStudyDataDictionaryStudyTableCS1"]; #
+ fhir:CodeSystem.title [ fhir:value "Datatable CodeSystem (lists all variables)"]; #
+ fhir:CodeSystem.status [ fhir:value "active"]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -321,10 +321,10 @@ : Datatable CodeSystem (lists all variables) - TTL Representation<
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary table with 4 variables represented as codes."];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "5"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "Example CodeSystem for a data-dictionary table with 4 variables represented as codes."]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "5"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "subjectid" ];
@@ -345,7 +345,7 @@ : Datatable CodeSystem (lists all variables) - TTL Representation<
fhir:index 4;
fhir:CodeSystem.concept.code [ fhir:value "status" ];
fhir:CodeSystem.concept.display [ fhir:value "Subject's status (Case or Control)" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -383,7 +383,7 @@ : Datatable CodeSystem (lists all variables) - TTL Representation<
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xlsx b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xlsx
index e6850b5c..2146d5f0 100644
Binary files a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xlsx and b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xlsx differ
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml
index 45100941..dfebd41f 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml
@@ -10,7 +10,7 @@
-
+
diff --git a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml.html b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml.html
index 2ccfb63f..7423e0f9 100644
--- a/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml.html
+++ b/CodeSystem-example-study-data-dictionary-datatable-codesystem-1.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Datatable CodeSystem (lists all variables) - XML Representation<
Active
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Datatable CodeSystem (lists all variables) - XML Representation<
<name value="ExampleStudyDataDictionaryStudyTableCS1"/>
<title value="Datatable CodeSystem (lists all variables)"/>
<status value="active"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -369,7 +369,7 @@ : Datatable CodeSystem (lists all variables) - XML Representation<
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo-testing.html b/CodeSystem-hpo-testing.html
index 1d655ea0..17a81535 100644
--- a/CodeSystem-hpo-testing.html
+++ b/CodeSystem-hpo-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: Human Phenotype Ontology - Testing
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: Human Phenotype Ontology - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo.change.history.html b/CodeSystem-hpo.change.history.html
index 4357e1f1..494e7e5e 100644
--- a/CodeSystem-hpo.change.history.html
+++ b/CodeSystem-hpo.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : HPO - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo.html b/CodeSystem-hpo.html
index 5eadf16a..897cf7cb 100644
--- a/CodeSystem-hpo.html
+++ b/CodeSystem-hpo.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: Human Phenotype Ontology
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -350,7 +350,7 @@ CodeSystem: Human Phenotype Ontology
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo.json b/CodeSystem-hpo.json
index 4bcb187c..b9821397 100644
--- a/CodeSystem-hpo.json
+++ b/CodeSystem-hpo.json
@@ -1,7611 +1,7593 @@
-{
- "resourceType": "CodeSystem",
- "id": "hpo",
- "text": {
- "status": "generated",
- "div": "Properties
Code | Type | Description |
parent | code | Parent codes. |
imported | boolean | Indicates if the concept is imported from another code system. |
root | boolean | Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent) |
deprecated | boolean | Indicates if this concept is deprecated. |
Filters
Code | Description | operator | Value |
root | | = | True or false. |
deprecated | | = | True or false. |
imported | | = | True or false |
This code system http://purl.obolibrary.org/obo/hp.owl
defines many codes, of which the following are a subset:
Code | Display |
HP:0000365 | Hearing impairment |
HP:0002564 | obsolete Malformation of the heart and great vessels |
HP:0001028 | Hemangioma |
HP:0000476 | Cystic hygroma |
HP:0000568 | Microphthalmia |
HP:0000518 | Cataract |
HP:0000612 | Iris coloboma |
HP:0000567 | Chorioretinal coloboma |
HP:0000316 | Hypertelorism |
HP:0000482 | Microcornea |
HP:0000588 | Optic nerve coloboma |
HP:0004426 | Abnormality of the cheek |
HP:0009125 | Lipodystrophy |
HP:0002023 | Anal atresia |
HP:0003468 | Abnormal vertebral morphology |
HP:0000545 | Myopia |
HP:0000122 | Unilateral renal agenesis |
HP:0002143 | Abnormality of the spinal cord |
HP:0003508 | Proportionate short stature |
HP:0000271 | Abnormality of the face |
HP:0000637 | Long palpebral fissure |
HP:0000492 | Abnormal eyelid morphology |
HP:0000389 | Chronic otitis media |
HP:0000400 | Macrotia |
HP:0000405 | Conductive hearing impairment |
HP:0012712 | Mild hearing impairment |
HP:0005280 | Depressed nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000319 | Smooth philtrum |
HP:0000175 | Cleft palate |
HP:0001611 | Nasal speech |
HP:0002099 | Asthma |
HP:0001397 | Hepatic steatosis |
HP:0001081 | Cholelithiasis |
HP:0002650 | Scoliosis |
HP:0001212 | Prominent fingertip pads |
HP:0001328 | Specific learning disability |
HP:0000824 | Growth hormone deficiency |
HP:0002607 | Bowel incontinence |
HP:0100731 | Transverse facial cleft |
HP:0000528 | Anophthalmia |
HP:0000601 | Hypotelorism |
HP:0000369 | Low-set ears |
HP:0001274 | Agenesis of corpus callosum |
HP:0002084 | Encephalocele |
HP:0007033 | Cerebellar dysplasia |
HP:0100336 | Bilateral cleft lip |
HP:0100337 | Bilateral cleft palate |
HP:0001511 | Intrauterine growth retardation |
HP:0011451 | Congenital microcephaly |
HP:0000324 | Facial asymmetry |
HP:0000581 | Blepharophimosis |
HP:0000508 | Ptosis |
HP:0008551 | Microtia |
HP:0001631 | Atrial septal defect |
HP:0000085 | Horseshoe kidney |
HP:0011927 | Short digit |
HP:0001156 | Brachydactyly |
HP:0002066 | Gait ataxia |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001562 | Oligohydramnios |
HP:0001195 | Single umbilical artery |
HP:0006349 | Agenesis of permanent teeth |
HP:0000668 | Hypodontia |
HP:0000677 | Oligodontia |
HP:0001252 | Muscular hypotonia |
HP:0003429 | CNS hypomyelination |
HP:0010864 | Intellectual disability, severe |
HP:0004325 | Decreased body weight |
HP:0000666 | Horizontal nystagmus |
HP:0000218 | High palate |
HP:0010809 | Broad uvula |
HP:0000767 | Pectus excavatum |
HP:0003691 | Scapular winging |
HP:0002616 | Aortic root aneurysm |
HP:0001601 | Laryngomalacia |
HP:0002021 | Pyloric stenosis |
HP:0001388 | Joint laxity |
HP:0001187 | Hyperextensibility of the finger joints |
HP:0000741 | Apathy |
HP:0000817 | Poor eye contact |
HP:0000821 | Hypothyroidism |
HP:0000002 | Abnormality of body height |
HP:0000079 | Abnormality of the urinary system |
HP:0000164 | Abnormality of the dentition |
HP:0000364 | Hearing abnormality |
HP:0000366 | Abnormality of the nose |
HP:0000464 | Abnormality of the neck |
HP:0000707 | Abnormality of the nervous system |
HP:0000708 | Behavioral abnormality |
HP:0000769 | Abnormality of the breast |
HP:0000772 | Abnormality of the ribs |
HP:0000775 | Abnormality of the diaphragm |
HP:0000889 | Abnormality of the clavicle |
HP:0000925 | Abnormality of the vertebral column |
HP:0001080 | Biliary tract abnormality |
HP:0001392 | Abnormality of the liver |
HP:0001438 | Abnormal abdomen morphology |
HP:0001608 | Abnormality of the voice |
HP:0001627 | Abnormal heart morphology |
HP:0001732 | Abnormality of the pancreas |
HP:0001739 | Abnormality of the nasopharynx |
HP:0001743 | Abnormality of the spleen |
HP:0001760 | Abnormal foot morphology |
HP:0001871 | Abnormality of blood and blood-forming tissues |
HP:0002031 | Abnormal esophagus morphology |
HP:0002244 | Abnormality of the small intestine |
HP:0002246 | Abnormality of the duodenum |
HP:0002250 | Abnormal large intestine morphology |
HP:0002644 | Abnormality of pelvic girdle bone morphology |
HP:0002664 | Neoplasm |
HP:0002715 | Abnormality of the immune system |
HP:0002814 | Abnormality of the lower limb |
HP:0002817 | Abnormality of the upper limb |
HP:0005483 | Abnormal epiglottis morphology |
HP:0008777 | Abnormal vocal cord morphology |
HP:0011844 | Abnormal appendicular skeleton morphology |
HP:0012732 | Anorectal anomaly |
HP:0001508 | Failure to thrive |
HP:0002902 | Hyponatremia |
HP:0012236 | Elevated sweat chloride |
HP:0000347 | Micrognathia |
HP:0000926 | Platyspondyly |
HP:0001371 | Flexion contracture |
HP:0001875 | Neutropenia |
HP:0001888 | Lymphopenia |
HP:0002857 | Genu valgum |
HP:0002986 | Radial bowing |
HP:0003015 | Flared metaphysis |
HP:0003025 | Metaphyseal irregularity |
HP:0003097 | Short femur |
HP:0003300 | Ovoid vertebral bodies |
HP:0003307 | Hyperlordosis |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004322 | Short stature |
HP:0005792 | Short humerus |
HP:0006248 | Limited wrist movement |
HP:0000944 | Abnormality of the metaphysis |
HP:0011921 | Exudative pleural effusion |
HP:0003043 | Abnormality of the shoulder |
HP:0000290 | Abnormality of the forehead |
HP:0005288 | Abnormality of the nares |
HP:0000234 | Abnormality of the head |
HP:0004323 | Abnormality of body weight |
HP:0000483 | Astigmatism |
HP:0011003 | High myopia |
HP:0000470 | Short neck |
HP:0030044 | Flexion contracture of digit |
HP:0100871 | Abnormality of the palm |
HP:0004334 | Dermal atrophy |
HP:0001845 | Overlapping toe |
HP:0000496 | Abnormality of eye movement |
HP:0001780 | Abnormality of toe |
HP:0001626 | Abnormality of the cardiovascular system |
HP:0002086 | Abnormality of the respiratory system |
HP:0000818 | Abnormality of the endocrine system |
HP:0012372 | Abnormal eye morphology |
HP:0009473 | Joint contracture of the hand |
HP:0003199 | Decreased muscle mass |
HP:0003202 | Skeletal muscle atrophy |
HP:0003551 | Difficulty climbing stairs |
HP:0002355 | Difficulty walking |
HP:0003546 | Exercise intolerance |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003701 | Proximal muscle weakness |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0007340 | Lower limb muscle weakness |
HP:0002168 | Scanning speech |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0003477 | Peripheral axonal neuropathy |
HP:0000924 | Abnormality of the skeletal system |
HP:0001291 | Abnormal cranial nerve morphology |
HP:0003687 | Centrally nucleated skeletal muscle fibers |
HP:0001324 | Muscle weakness |
HP:0002515 | Waddling gait |
HP:0100280 | Crohn's disease |
HP:0002631 | obsolete Dilatation of ascending aorta |
HP:0100026 | Arteriovenous malformation |
HP:0002637 | Cerebral ischemia |
HP:0002619 | Varicose veins |
HP:0001159 | Syndactyly |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0000977 | Soft skin |
HP:0010648 | Dermal translucency |
HP:0000978 | Bruising susceptibility |
HP:0001956 | Truncal obesity |
HP:0000189 | Narrow palate |
HP:0000678 | Dental crowding |
HP:0002870 | Obstructive sleep apnea |
HP:0001763 | Pes planus |
HP:0000782 | Abnormality of the scapula |
HP:0001600 | Abnormality of the larynx |
HP:0002088 | Abnormal lung morphology |
HP:0011407 | Proportionate tall stature |
HP:0000541 | Retinal detachment |
HP:0001373 | Joint dislocation |
HP:0000938 | Osteopenia |
HP:0002942 | Thoracic kyphosis |
HP:0001840 | Metatarsus adductus |
HP:0001844 | Abnormality of the hallux |
HP:0001765 | Hammertoe |
HP:0000606 | Abnormality of the periorbital region |
HP:0002757 | Recurrent fractures |
HP:0000647 | Sclerocornea |
HP:0001166 | Arachnodactyly |
HP:0005490 | Postnatal macrocephaly |
HP:0011363 | Abnormality of hair growth rate |
HP:0000276 | Long face |
HP:0000275 | Narrow face |
HP:0000337 | Broad forehead |
HP:0002267 | Exaggerated startle response |
HP:0002187 | Intellectual disability, profound |
HP:0000728 | Impaired ability to form peer relationships |
HP:0000733 | Stereotypy |
HP:0000739 | Anxiety |
HP:0000929 | Abnormal skull morphology |
HP:0001965 | Abnormal scalp morphology |
HP:0100538 | Abnormality of the supraorbital ridges |
HP:0000309 | Abnormality of the midface |
HP:0000277 | Abnormality of the mandible |
HP:0000765 | Abnormality of the thorax |
HP:0100008 | Schwannoma |
HP:0030038 | Enchondroma |
HP:0100777 | Exostoses |
HP:0011663 | Right ventricular cardiomyopathy |
HP:0011675 | Arrhythmia |
HP:0001962 | Palpitations |
HP:0001279 | Syncope |
HP:0004756 | Ventricular tachycardia |
HP:0000252 | Microcephaly |
HP:0000303 | Mandibular prognathia |
HP:0000664 | Synophrys |
HP:0001609 | Hoarse voice |
HP:0002558 | Supernumerary nipple |
HP:0001634 | Mitral valve prolapse |
HP:0000028 | Cryptorchidism |
HP:0000973 | Cutis laxa |
HP:0001518 | Small for gestational age |
HP:0000527 | Long eyelashes |
HP:0002808 | Kyphosis |
HP:0000248 | Brachycephaly |
HP:0000505 | Visual impairment |
HP:0000512 | Abnormal electroretinogram |
HP:0000517 | Abnormality of the lens |
HP:0000529 | Progressive visual loss |
HP:0000586 | Shallow orbits |
HP:0000603 | Central scotoma |
HP:0000939 | Osteoporosis |
HP:0001377 | Limited elbow extension |
HP:0001387 | Joint stiffness |
HP:0001822 | Hallux valgus |
HP:0002657 | Spondylometaphyseal dysplasia |
HP:0003026 | Short long bone |
HP:0006462 | Generalized bone demineralization |
HP:0008873 | Disproportionate short-limb short stature |
HP:0008905 | Rhizomelia |
HP:0008922 | Childhood-onset short-trunk short stature |
HP:0200020 | Corneal erosion |
HP:0001172 | Abnormal thumb morphology |
HP:0002286 | Fair hair |
HP:0010719 | Abnormality of hair texture |
HP:0010720 | Abnormal hair pattern |
HP:0001635 | Congestive heart failure |
HP:0001644 | Dilated cardiomyopathy |
HP:0001663 | Ventricular fibrillation |
HP:0011712 | Right bundle branch block |
HP:0000272 | Malar flattening |
HP:0000286 | Epicanthus |
HP:0000322 | Short philtrum |
HP:0000463 | Anteverted nares |
HP:0000494 | Downslanted palpebral fissures |
HP:0000543 | Optic disc pallor |
HP:0000699 | Diastema |
HP:0000773 | Short ribs |
HP:0000887 | Cupped ribs |
HP:0000946 | Hypoplastic ilia |
HP:0000954 | Single transverse palmar crease |
HP:0001182 | Tapered finger |
HP:0001537 | Umbilical hernia |
HP:0002007 | Frontal bossing |
HP:0002980 | Femoral bowing |
HP:0002982 | Tibial bowing |
HP:0003021 | Metaphyseal cupping |
HP:0005011 | Mesomelic arm shortening |
HP:0008803 | obsolete Narrow sacroiliac notch |
HP:0009117 | Aplasia/Hypoplasia of the maxilla |
HP:0011220 | Prominent forehead |
HP:0012801 | Narrow jaw |
HP:0000243 | Trigonocephaly |
HP:0000358 | Posteriorly rotated ears |
HP:0000411 | Protruding ear |
HP:0000646 | Amblyopia |
HP:0002812 | Coxa vara |
HP:0002970 | Genu varum |
HP:0012775 | Stellate iris |
HP:0000278 | Retrognathia |
HP:0009796 | Branchial cyst |
HP:0002474 | Expressive language delay |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0003198 | Myopathy |
HP:0003324 | Generalized muscle weakness |
HP:0003552 | Muscle stiffness |
HP:0003554 | Type 2 muscle fiber atrophy |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0009025 | Increased connective tissue |
HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
HP:0002597 | Abnormality of the vasculature |
HP:0001649 | Tachycardia |
HP:0001638 | Cardiomyopathy |
HP:0001654 | Abnormal heart valve morphology |
HP:0001671 | Abnormal cardiac septum morphology |
HP:0000103 | Polyuria |
HP:0000114 | Proximal tubulopathy |
HP:0001878 | Hemolytic anemia |
HP:0001931 | Hypochromic anemia |
HP:0001935 | Microcytic anemia |
HP:0001959 | Polydipsia |
HP:0001994 | Renal Fanconi syndrome |
HP:0002134 | Abnormality of the basal ganglia |
HP:0002188 | Delayed CNS myelination |
HP:0002908 | Conjugated hyperbilirubinemia |
HP:0003774 | Stage 5 chronic kidney disease |
HP:0010700 | obsolete Total cataract |
HP:0000193 | Bifid uvula |
HP:0000219 | Thin upper lip vermilion |
HP:0000426 | Prominent nasal bridge |
HP:0000452 | Choanal stenosis |
HP:0000490 | Deeply set eye |
HP:0000540 | Hypermetropia |
HP:0000579 | Nasolacrimal duct obstruction |
HP:0000684 | Delayed eruption of teeth |
HP:0000960 | Sacral dimple |
HP:0000998 | Hypertrichosis |
HP:0001643 | Patent ductus arteriosus |
HP:0010813 | Abnormal number of hair whorls |
HP:0012384 | Rhinitis |
HP:0012745 | Short palpebral fissure |
HP:0000359 | Abnormality of the inner ear |
HP:0000429 | Abnormality of the nasal alae |
HP:0000436 | Abnormality of the nasal tip |
HP:0000499 | Abnormal eyelash morphology |
HP:0000534 | Abnormal eyebrow morphology |
HP:0000951 | Abnormality of the skin |
HP:0001000 | Abnormality of skin pigmentation |
HP:0001597 | Abnormality of the nail |
HP:0006483 | Abnormal number of teeth |
HP:0009929 | Abnormality of the columella |
HP:0011119 | Abnormality of the nasal dorsum |
HP:0012808 | Abnormal nasal base |
HP:0100490 | Camptodactyly of finger |
HP:0000964 | Eczema |
HP:0004442 | Sagittal craniosynostosis |
HP:0000414 | Bulbous nose |
HP:0003180 | Flat acetabular roof |
HP:0000422 | Abnormality of the nasal bridge |
HP:0000614 | Abnormal nasolacrimal system morphology |
HP:0001167 | Abnormality of finger |
HP:0001595 | Abnormal hair morphology |
HP:0012373 | Abnormal eye physiology |
HP:0001655 | Patent foramen ovale |
HP:0001647 | Bicuspid aortic valve |
HP:0000574 | Thick eyebrow |
HP:0001169 | Broad palm |
HP:0006471 | Fixed elbow flexion |
HP:0008689 | Bilateral cryptorchidism |
HP:0011304 | Broad thumb |
HP:0005110 | Atrial fibrillation |
HP:0001633 | Abnormal mitral valve morphology |
HP:0001641 | Abnormal pulmonary valve morphology |
HP:0001702 | Abnormal tricuspid valve morphology |
HP:0000012 | Urinary urgency |
HP:0000020 | Urinary incontinence |
HP:0000131 | Uterine leiomyoma |
HP:0000132 | Menorrhagia |
HP:0000138 | Ovarian cyst |
HP:0000853 | Goiter |
HP:0000953 | Hyperpigmentation of the skin |
HP:0001061 | Acne |
HP:0002315 | Headache |
HP:0004324 | Increased body weight |
HP:0000069 | Abnormality of the ureter |
HP:0000077 | Abnormality of the kidney |
HP:0000759 | Abnormal peripheral nervous system morphology |
HP:0008069 | Neoplasm of the skin |
HP:0011276 | Vascular skin abnormality |
HP:0000705 | Amelogenesis imperfecta |
HP:0001256 | Intellectual disability, mild |
HP:0000325 | Triangular face |
HP:0000160 | Narrow mouth |
HP:0009487 | Ulnar deviation of the hand |
HP:0001249 | Intellectual disability |
HP:0008064 | Ichthyosis |
HP:0000311 | Round face |
HP:0001653 | Mitral regurgitation |
HP:0001771 | Achilles tendon contracture |
HP:0012032 | Lipoma |
HP:0012368 | Flat face |
HP:0030053 | Stiff skin |
HP:0011124 | Abnormality of epidermal morphology |
HP:0011097 | Epileptic spasm |
HP:0000407 | Sensorineural hearing impairment |
HP:0000331 | Short chin |
HP:0000340 | Sloping forehead |
HP:0000486 | Strabismus |
HP:0000713 | Agitation |
HP:0000802 | Impotence |
HP:0001272 | Cerebellar atrophy |
HP:0001276 | Hypertonia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001322 | obsolete Brain very small |
HP:0002061 | Lower limb spasticity |
HP:0002529 | Neuronal loss in central nervous system |
HP:0002540 | Inability to walk |
HP:0005484 | Postnatal microcephaly |
HP:0012850 | Small intestinal dysmotility |
HP:0000504 | Abnormality of vision |
HP:0002118 | Abnormality of the cerebral ventricles |
HP:0002363 | Abnormality of brainstem morphology |
HP:0010651 | Abnormal meningeal morphology |
HP:0100024 | Conspicuously happy disposition |
HP:0002538 | Abnormality of the cerebral cortex |
HP:0000054 | Micropenis |
HP:0000215 | Thick upper lip vermilion |
HP:0000293 | Full cheeks |
HP:0000349 | Widow's peak |
HP:0000444 | Convex nasal ridge |
HP:0000506 | Telecanthus |
HP:0000592 | Blue sclerae |
HP:0000691 | Microdontia |
HP:0000698 | Conical tooth |
HP:0002000 | Short columella |
HP:0002097 | Emphysema |
HP:0002209 | Sparse scalp hair |
HP:0002816 | Genu recurvatum |
HP:0005116 | Arterial tortuosity |
HP:0007957 | Corneal opacity |
HP:0008070 | Sparse hair |
HP:0009623 | Proximal placement of thumb |
HP:0010055 | Broad hallux |
HP:0011318 | Bicoronal synostosis |
HP:0011968 | Feeding difficulties |
HP:0200067 | Recurrent spontaneous abortion |
HP:0011819 | Submucous cleft soft palate |
HP:0000268 | Dolichocephaly |
HP:0003302 | Spondylolisthesis |
HP:0000582 | Upslanted palpebral fissure |
HP:0000952 | Jaundice |
HP:0001298 | Encephalopathy |
HP:0001396 | Cholestasis |
HP:0002059 | Cerebral atrophy |
HP:0002171 | Gliosis |
HP:0002240 | Hepatomegaly |
HP:0002353 | EEG abnormality |
HP:0002446 | Astrocytosis |
HP:0003287 | Abnormality of mitochondrial metabolism |
HP:0011449 | Knee clonus |
HP:0012852 | Hepatic bridging fibrosis |
HP:0100626 | Chronic hepatic failure |
HP:0000385 | Small earlobe |
HP:0009748 | Large earlobe |
HP:0000157 | Abnormality of the tongue |
HP:0000172 | Abnormality of the uvula |
HP:0000174 | Abnormal palate morphology |
HP:0000306 | Abnormality of the chin |
HP:0004408 | Abnormality of the sense of smell |
HP:0009912 | Abnormality of the tragus |
HP:0000537 | Epicanthus inversus |
HP:0000565 | Esotropia |
HP:0000752 | Hyperactivity |
HP:0003186 | Inverted nipples |
HP:0012503 | Abnormality of the pituitary gland |
HP:0100710 | Impulsivity |
HP:0000357 | Abnormal location of ears |
HP:0000820 | Abnormality of the thyroid gland |
HP:0000828 | Abnormality of the parathyroid gland |
HP:0000834 | Abnormality of the adrenal glands |
HP:0012093 | Abnormality of endocrine pancreas physiology |
HP:0000269 | Prominent occiput |
HP:0000535 | Sparse and thin eyebrow |
HP:0000639 | Nystagmus |
HP:0000718 | Aggressive behavior |
HP:0000957 | Cafe-au-lait spot |
HP:0000256 | Macrocephaly |
HP:0000750 | Delayed speech and language development |
HP:0000963 | Thin skin |
HP:0001260 | Dysarthria |
HP:0002194 | Delayed gross motor development |
HP:0003196 | Short nose |
HP:0001155 | Abnormality of the hand |
HP:0100022 | Abnormality of movement |
HP:0010862 | Delayed fine motor development |
HP:0000343 | Long philtrum |
HP:0000717 | Autism |
HP:0001883 | Talipes |
HP:0002553 | Highly arched eyebrow |
HP:0007488 | Diffuse skin atrophy |
HP:0000822 | Hypertension |
HP:0001278 | Orthostatic hypotension |
HP:0001944 | Dehydration |
HP:0001945 | Fever |
HP:0002019 | Constipation |
HP:0002020 | Gastroesophageal reflux |
HP:0002027 | Abdominal pain |
HP:0002718 | Recurrent bacterial infections |
HP:0002841 | Recurrent fungal infections |
HP:0004395 | Malnutrition |
HP:0009830 | Peripheral neuropathy |
HP:0000126 | Hydronephrosis |
HP:0000519 | Developmental cataract |
HP:0000648 | Optic atrophy |
HP:0001053 | Hypopigmented skin patches |
HP:0001087 | Developmental glaucoma |
HP:0002119 | Ventriculomegaly |
HP:0002280 | Enlarged cisterna magna |
HP:0003298 | Spina bifida occulta |
HP:0004467 | Preauricular pit |
HP:0008511 | Central posterior corneal opacity |
HP:0010780 | Hyperacusis |
HP:0030048 | Colpocephaly |
HP:0100335 | Non-midline cleft lip |
HP:0000525 | Abnormality iris morphology |
HP:0002719 | Recurrent infections |
HP:0000153 | Abnormality of the mouth |
HP:0001903 | Anemia |
HP:0002094 | Dyspnea |
HP:0002206 | Pulmonary fibrosis |
HP:0002789 | Tachypnea |
HP:0002793 | Abnormal pattern of respiration |
HP:0003565 | Elevated erythrocyte sedimentation rate |
HP:0006517 | Intraalveolar phospholipid accumulation |
HP:0006530 | Interstitial pulmonary abnormality |
HP:0100759 | Clubbing of fingers |
HP:0002103 | Abnormal pleura morphology |
HP:0001596 | Alopecia |
HP:0001882 | Leukopenia |
HP:0002013 | Vomiting |
HP:0002028 | Chronic diarrhea |
HP:0002573 | Hematochezia |
HP:0002960 | Autoimmunity |
HP:0005387 | Combined immunodeficiency |
HP:0011109 | Chronic sinusitis |
HP:0004429 | Recurrent viral infections |
HP:0000280 | Coarse facial features |
HP:0000294 | Low anterior hairline |
HP:0000577 | Exotropia |
HP:0001873 | Thrombocytopenia |
HP:0002011 | Morphological central nervous system abnormality |
HP:0006610 | Wide intermamillary distance |
HP:0011231 | Prominent eyelashes |
HP:0012718 | Morphological abnormality of the gastrointestinal tract |
HP:0002024 | Malabsorption |
HP:0001394 | Cirrhosis |
HP:0001414 | Microvesicular hepatic steatosis |
HP:0001403 | Macrovesicular hepatic steatosis |
HP:0001410 | Decreased liver function |
HP:0001409 | Portal hypertension |
HP:0001744 | Splenomegaly |
HP:0003394 | Muscle spasm |
HP:0003750 | Increased muscle fatiguability |
HP:0002123 | Generalized myoclonic seizure |
HP:0002219 | Facial hypertrichosis |
HP:0000831 | Insulin-resistant diabetes mellitus |
HP:0001891 | Iron deficiency anemia |
HP:0001264 | Spastic diplegia |
HP:0002313 | Spastic paraparesis |
HP:0001347 | Hyperreflexia |
HP:0002460 | Distal muscle weakness |
HP:0000763 | Sensory neuropathy |
HP:0001268 | Mental deterioration |
HP:0002169 | Clonus |
HP:0001332 | Dystonia |
HP:0100716 | Self-injurious behavior |
HP:0000602 | Ophthalmoplegia |
HP:0001251 | Ataxia |
HP:0000776 | Congenital diaphragmatic hernia |
HP:0000410 | Mixed hearing impairment |
HP:0000510 | Rod-cone dystrophy |
HP:0004437 | Cranial hyperostosis |
HP:0011001 | Increased bone mineral density |
HP:0000956 | Acanthosis nigricans |
HP:0000958 | Dry skin |
HP:0000580 | Pigmentary retinopathy |
HP:0000649 | Abnormality of visual evoked potentials |
HP:0000657 | Oculomotor apraxia |
HP:0000479 | Abnormal retinal morphology |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001533 | Slender build |
HP:0001629 | Ventricular septal defect |
HP:0000703 | Dentinogenesis imperfecta |
HP:0000914 | Shield chest |
HP:0001500 | Broad finger |
HP:0003086 | Acromesomelia |
HP:0003416 | Spinal canal stenosis |
HP:0002815 | Abnormality of the knee |
HP:0002992 | Abnormality of tibia morphology |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0003236 | Elevated serum creatine kinase |
HP:0001369 | Arthritis |
HP:0003560 | Muscular dystrophy |
HP:0003974 | Absent radius |
HP:0002818 | Abnormality of the radius |
HP:0001561 | Polyhydramnios |
HP:0002299 | Brittle hair |
HP:0002208 | Coarse hair |
HP:0002213 | Fine hair |
HP:0000522 | Alacrima |
HP:0100704 | Cerebral visual impairment |
HP:0012713 | Moderate hearing impairment |
HP:0002307 | Drooling |
HP:0002714 | Downturned corners of mouth |
HP:0000191 | Accessory oral frenulum |
HP:0000158 | Macroglossia |
HP:0012020 | Right aortic arch |
HP:0002104 | Apnea |
HP:0000598 | Abnormality of the ear |
HP:0007874 | Almond-shaped palpebral fissure |
HP:0010804 | Tented upper lip vermilion |
HP:0000885 | Broad ribs |
HP:0000768 | Pectus carinatum |
HP:0001680 | Coarctation of aorta |
HP:0000687 | Widely spaced teeth |
HP:0000047 | Hypospadias |
HP:0001943 | Hypoglycemia |
HP:0012369 | Abnormality of malar bones |
HP:0009900 | Unilateral deafness |
HP:0000023 | Inguinal hernia |
HP:0000074 | Ureteropelvic junction obstruction |
HP:0001800 | Hypoplastic toenails |
HP:0001804 | Hypoplastic fingernail |
HP:0002949 | Fused cervical vertebrae |
HP:0008050 | Abnormality of the palpebral fissures |
HP:0008577 | Underfolded helix |
HP:0008589 | Hypoplastic helices |
HP:0010863 | Receptive language delay |
HP:0002282 | Gray matter heterotopia |
HP:0002085 | Occipital encephalocele |
HP:0001057 | Aplasia cutis congenita |
HP:0000211 | Trismus |
HP:0008422 | Vertebral wedging |
HP:0003170 | Abnormality of the acetabulum |
HP:0003272 | Abnormality of the hip bone |
HP:0003028 | Abnormality of the ankles |
HP:0003301 | Irregular vertebral endplates |
HP:0010508 | Metatarsus valgus |
HP:0009811 | Abnormality of the elbow |
HP:0000736 | Short attention span |
HP:0002912 | Methylmalonic acidemia |
HP:0001941 | Acidosis |
HP:0001992 | Organic aciduria |
HP:0009027 | Foot dorsiflexor weakness |
HP:0002063 | Rigidity |
HP:0000384 | Preauricular skin tag |
HP:0200046 | Cat cry |
HP:0001357 | Plagiocephaly |
HP:0000670 | Carious teeth |
HP:0011090 | Fused teeth |
HP:0012810 | Wide nasal base |
HP:0010296 | Ankyloglossia |
HP:0001636 | Tetralogy of Fallot |
HP:0001305 | Dandy-Walker malformation |
HP:0000238 | Hydrocephalus |
HP:0005469 | Flat occiput |
HP:0000270 | Delayed cranial suture closure |
HP:0000239 | Large fontanelles |
HP:0010537 | Wide cranial sutures |
HP:0002217 | Slow-growing hair |
HP:0000587 | Abnormality of the optic nerve |
HP:0005989 | Redundant neck skin |
HP:0010775 | Vascular ring |
HP:0002779 | Tracheomalacia |
HP:0002827 | Hip dislocation |
HP:0001302 | Pachygyria |
HP:0007362 | Aplasia/Hypoplasia of the brainstem |
HP:0001558 | Decreased fetal movement |
HP:0010878 | Fetal cystic hygroma |
HP:0011398 | Central hypotonia |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0000826 | Precocious puberty |
HP:0000014 | Abnormality of the bladder |
HP:0005037 | Proximal radio-ulnar synostosis |
HP:0100543 | Cognitive impairment |
HP:0000481 | Abnormal cornea morphology |
HP:0000076 | Vesicoureteral reflux |
HP:0000297 | Facial hypotonia |
HP:0000391 | Thickened helices |
HP:0001162 | Postaxial hand polydactyly |
HP:0001385 | Hip dysplasia |
HP:0002342 | Intellectual disability, moderate |
HP:0003191 | Cleft ala nasi |
HP:0009765 | Low hanging columella |
HP:0010297 | Bifid tongue |
HP:0011330 | Metopic synostosis |
HP:0012804 | Corneal ulceration |
HP:0010485 | Hyperextensibility at elbow |
HP:0000609 | Optic nerve hypoplasia |
HP:0001176 | Large hands |
HP:0004233 | Advanced ossification of carpal bones |
HP:0100842 | Septo-optic dysplasia |
HP:0002034 | Abnormality of the rectum |
HP:0002283 | Global brain atrophy |
HP:0003115 | Abnormal EKG |
HP:0002577 | Abnormal stomach morphology |
HP:0002539 | Cortical dysplasia |
HP:0006818 | 4-layered lissencephaly |
HP:0000593 | Abnormal anterior chamber morphology |
HP:0000179 | Thick lower lip vermilion |
HP:0002002 | Deep philtrum |
HP:0009931 | Enlarged naris |
HP:0002948 | Vertebral fusion |
HP:0002937 | Hemivertebrae |
HP:0002308 | Arnold-Chiari malformation |
HP:0011320 | Unilambdoid synostosis |
HP:0002781 | Upper airway obstruction |
HP:0001363 | Craniosynostosis |
HP:0000204 | Cleft upper lip |
HP:0001738 | Exocrine pancreatic insufficiency |
HP:0002823 | Abnormality of femur morphology |
HP:0000823 | Delayed puberty |
HP:0100279 | Ulcerative colitis |
HP:0003834 | Shoulder dislocation |
HP:0001065 | Striae distensae |
HP:0000448 | Prominent nose |
HP:0000554 | Uveitis |
HP:0001006 | obsolete Hypotrichosis |
HP:0000501 | Glaucoma |
HP:0000262 | Turricephaly |
HP:0000729 | Autistic behavior |
HP:0010800 | Absent cupid's bow |
HP:0010808 | Protruding tongue |
HP:0009927 | Aplasia of the nose |
HP:0100539 | Periorbital edema |
HP:0000629 | Periorbital fullness |
HP:0000178 | Abnormality of lower lip |
HP:0000168 | Abnormality of the gingiva |
HP:0001022 | Albinism |
HP:0000177 | Abnormality of upper lip |
HP:0001337 | Tremor |
HP:0002135 | Basal ganglia calcification |
HP:0002352 | Leukoencephalopathy |
HP:0002514 | Cerebral calcification |
HP:0010576 | Intracranial cystic lesion |
HP:0001622 | Premature birth |
HP:0002415 | Leukodystrophy |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001773 | Short foot |
HP:0002750 | Delayed skeletal maturation |
HP:0004415 | Pulmonary artery stenosis |
HP:0012741 | Unilateral cryptorchidism |
HP:0000036 | Abnormality of the penis |
HP:0002408 | Cerebral arteriovenous malformation |
HP:0007457 | Prominent veins on trunk |
HP:0000378 | Cupped ear |
HP:0000396 | Overfolded helix |
HP:0000035 | Abnormal testis morphology |
HP:0009895 | Abnormality of the crus of the helix |
HP:0000034 | Hydrocele testis |
HP:0000722 | Obsessive-compulsive behavior |
HP:0000845 | Growth hormone excess |
HP:0100829 | Galactorrhea |
HP:0001578 | Increased circulating cortisol level |
HP:0000786 | Primary amenorrhea |
HP:0001701 | Pericarditis |
HP:0002076 | Migraine |
HP:0004755 | Supraventricular tachycardia |
HP:0010522 | Dyslexia |
HP:0004313 | Decreased circulating antibody level |
HP:0000011 | Neurogenic bladder |
HP:0000641 | Dysmetric saccades |
HP:0007772 | Impaired smooth pursuit |
HP:0001583 | Rotary nystagmus |
HP:0010544 | Vertical nystagmus |
HP:0012735 | Cough |
HP:0002075 | Dysdiadochokinesis |
HP:0007256 | Abnormal pyramidal sign |
HP:0001257 | Spasticity |
HP:0002321 | Vertigo |
HP:0002384 | Focal impaired awareness seizure |
HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
HP:0002326 | Transient ischemic attack |
HP:0005584 | Renal cell carcinoma |
HP:0003124 | Hypercholesterolemia |
HP:0003002 | Breast carcinoma |
HP:0004953 | obsolete Dilatation of abdominal aorta |
HP:0004944 | Dilatation of the cerebral artery |
HP:0000100 | Nephrotic syndrome |
HP:0002783 | Recurrent lower respiratory tract infections |
HP:0003470 | Paralysis |
HP:0006597 | Diaphragmatic paralysis |
HP:0008151 | Prolonged prothrombin time |
HP:0010628 | Facial palsy |
HP:0011892 | Low levels of vitamin K |
HP:0001075 | Atrophic scars |
HP:0001816 | Thin nail |
HP:0002216 | Premature graying of hair |
HP:0003401 | Paresthesia |
HP:0100134 | Abnormality of the axillary hair |
HP:0100797 | Toenail dysplasia |
HP:0010461 | Abnormality of the male genitalia |
HP:0000044 | Hypogonadotropic hypogonadism |
HP:0100568 | Neoplasm of the endocrine system |
HP:0001646 | Abnormal aortic valve morphology |
HP:0000813 | Bicornuate uterus |
HP:0004380 | Aortic valve calcification |
HP:0001650 | Aortic valve stenosis |
HP:0000073 | Ureteral duplication |
HP:0100651 | Type I diabetes mellitus |
HP:0000819 | Diabetes mellitus |
HP:0000573 | Retinal hemorrhage |
HP:0005264 | Abnormality of the gallbladder |
HP:0000475 | Broad neck |
HP:0000089 | Renal hypoplasia |
HP:0000921 | Missing ribs |
HP:0001789 | Hydrops fetalis |
HP:0002089 | Pulmonary hypoplasia |
HP:0003422 | Vertebral segmentation defect |
HP:0002323 | Anencephaly |
HP:0000341 | Narrow forehead |
HP:0002869 | Flared iliac wings |
HP:0003100 | Slender long bone |
HP:0003275 | Narrow pelvis bone |
HP:0009891 | Underdeveloped supraorbital ridges |
HP:0011039 | Abnormality of the helix |
HP:0008572 | External ear malformation |
HP:0009738 | Abnormality of the antihelix |
HP:0011328 | Abnormality of fontanelles |
HP:0012155 | Decreased corneal sensation |
HP:0004602 | Cervical C2/C3 vertebral fusion |
HP:0002997 | Abnormality of the ulna |
HP:0009777 | Absent thumb |
HP:0002893 | Pituitary adenoma |
HP:0040278 | Prolactinoma |
HP:0001555 | Asymmetry of the thorax |
HP:0000902 | Rib fusion |
HP:0002164 | Nail dysplasia |
HP:0011314 | Abnormality of long bone morphology |
HP:0002867 | Abnormality of the ilium |
HP:0000774 | Narrow chest |
HP:0006482 | Abnormality of dental morphology |
HP:0004383 | Hypoplastic left heart |
HP:0002015 | Dysphagia |
HP:0500093 | Food allergy |
HP:0001519 | Disproportionate tall stature |
HP:0003179 | Protrusio acetabuli |
HP:0007385 | Aplasia cutis congenita of scalp |
HP:0000716 | Depressivity |
HP:0012583 | Unilateral renal hypoplasia |
HP:0000618 | Blindness |
HP:0001004 | Lymphedema |
HP:0002652 | Skeletal dysplasia |
HP:0012520 | Perivascular spaces |
HP:0005293 | Venous insufficiency |
HP:0012432 | Chronic fatigue |
HP:0002578 | Gastroparesis |
HP:0001658 | Myocardial infarction |
HP:0001802 | Absent toenail |
HP:0001821 | Broad nail |
HP:0000807 | Glandular hypospadias |
HP:0100582 | Nasal polyposis |
HP:0002653 | Bone pain |
HP:0001073 | Cigarette-paper scars |
HP:0031913 | Rhombencephalosynapsis |
HP:0002617 | Dilatation |
HP:0005107 | Abnormal sacrum morphology |
HP:0002025 | Anal stenosis |
HP:0009099 | Median cleft palate |
HP:0003212 | Increased circulating IgE level |
HP:0001319 | Neonatal hypotonia |
HP:0002659 | Increased susceptibility to fractures |
HP:0025246 | Trichilemmal cyst |
HP:0002107 | Pneumothorax |
HP:0000107 | Renal cyst |
HP:0001025 | Urticaria |
HP:0002204 | Pulmonary embolism |
HP:0001058 | Poor wound healing |
HP:0003010 | Prolonged bleeding time |
HP:0100502 | Vitamin B12 deficiency |
HP:0100510 | Low levels of vitamin C |
HP:0030976 | Abnormal factor VIII activity |
HP:0100789 | Torus palatinus |
HP:0000108 | Renal corticomedullary cysts |
HP:0000072 | Hydroureter |
HP:0000019 | Urinary hesitancy |
HP:0100771 | Hypoperistalsis |
HP:0000021 | Megacystis |
HP:0004388 | Microcolon |
HP:0005247 | Hypoplasia of the abdominal wall musculature |
HP:0004794 | Malrotation of small bowel |
HP:0000045 | Abnormality of the scrotum |
HP:0002236 | Frontal upsweep of hair |
HP:0000212 | Gingival overgrowth |
HP:0001808 | Fragile nails |
HP:0000225 | Gingival bleeding |
HP:0006009 | Broad phalanx |
HP:0001837 | Broad toe |
HP:0001946 | Ketosis |
HP:0002490 | Increased CSF lactate |
HP:0002922 | Increased CSF protein |
HP:0003128 | Lactic acidosis |
HP:0003111 | Abnormal blood ion concentration |
HP:0032234 | Increased circulating creatine kinase MM isoform |
HP:0003348 | Hyperalaninemia |
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0000326 | Abnormality of the maxilla |
HP:0010758 | Abnormality of the premaxilla |
HP:0005681 | Juvenile rheumatoid arthritis |
HP:0000514 | Slow saccadic eye movements |
HP:0002788 | Recurrent upper respiratory tract infections |
HP:0003396 | Syringomyelia |
HP:0003011 | Abnormality of the musculature |
HP:0002098 | Respiratory distress |
HP:0002018 | Nausea |
HP:0002014 | Diarrhea |
HP:0025168 | Left ventricular diastolic dysfunction |
HP:0001679 | Abnormal aortic morphology |
HP:0000159 | Abnormal lip morphology |
HP:0011338 | Abnormality of mouth shape |
HP:0000478 | Abnormality of the eye |
HP:0000154 | Wide mouth |
HP:0001513 | Obesity |
HP:0002475 | Myelomeningocele |
HP:0003765 | Psoriasiform dermatitis |
HP:0010289 | Cleft of alveolar ridge of maxilla |
HP:0003908 | Corner fracture of metaphysis |
HP:0002190 | Choroid plexus cyst |
HP:0004370 | Abnormality of temperature regulation |
HP:0011611 | Interrupted aortic arch |
HP:0000737 | Irritability |
HP:0001344 | Absent speech |
HP:0002376 | Developmental regression |
HP:0002140 | Ischemic stroke |
HP:0001287 | Meningitis |
HP:0002721 | Immunodeficiency |
HP:0000041 | Chordee |
HP:0012854 | Midshaft hypospadias |
HP:0000808 | Penoscrotal hypospadias |
HP:0000048 | Bifid scrotum |
HP:0001047 | Atopic dermatitis |
HP:0001621 | Weak voice |
HP:0002372 | Normal interictal EEG |
HP:0012803 | Anisometropia |
HP:0011386 | Narrow internal auditory canal |
HP:0012714 | Severe hearing impairment |
HP:0006485 | Agenesis of incisor |
HP:0000787 | Nephrolithiasis |
HP:0011332 | Hemifacial hypoplasia |
HP:0001909 | Leukemia |
HP:0004808 | Acute myeloid leukemia |
HP:0006495 | Aplasia/Hypoplasia of the ulna |
HP:0001180 | Hand oligodactyly |
HP:0002991 | Abnormality of fibula morphology |
HP:0001849 | Foot oligodactyly |
HP:0006507 | Aplasia/hypoplasia of the humerus |
HP:0005613 | Aplasia/hypoplasia of the femur |
HP:0006492 | Aplasia/Hypoplasia of the fibula |
HP:0000098 | Tall stature |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0005752 | Flattened moderately deformed vertebrae |
HP:0030039 | Fused thoracic vertebrae |
HP:0003304 | Spondylolysis |
HP:0001659 | Aortic regurgitation |
HP:0002984 | Hypoplasia of the radius |
HP:0009944 | Partial duplication of thumb phalanx |
HP:0005819 | Short middle phalanx of finger |
HP:0002110 | Bronchiectasis |
HP:0001677 | Coronary artery atherosclerosis |
HP:0001737 | Pancreatic cysts |
HP:0005113 | Aortic arch aneurysm |
HP:0003022 | Hypoplasia of the ulna |
HP:0002205 | Recurrent respiratory infections |
HP:0001669 | Transposition of the great arteries |
HP:0001716 | Wolff-Parkinson-White syndrome |
HP:0002758 | Osteoarthritis |
HP:0002037 | Inflammation of the large intestine |
HP:0009892 | Anotia |
HP:0011331 | Hemifacial atrophy |
HP:0009118 | Aplasia/Hypoplasia of the mandible |
HP:0009940 | Asymmetry of the mandible |
HP:0000682 | Abnormality of dental enamel |
HP:0009908 | Anterior creases of earlobe |
HP:0001541 | Ascites |
HP:0006687 | Aortic tortuosity |
HP:0010535 | Sleep apnea |
HP:0100633 | Esophagitis |
HP:0002105 | Hemoptysis |
HP:0002613 | Biliary cirrhosis |
HP:0004469 | Chronic bronchitis |
HP:0002720 | Decreased circulating IgA level |
HP:0002904 | Hyperbilirubinemia |
HP:0003237 | Increased circulating IgG level |
HP:0003262 | Smooth muscle antibody positivity |
HP:0011227 | Elevated C-reactive protein level |
HP:0001852 | Sandal gap |
HP:0004381 | Supravalvular aortic stenosis |
HP:0100700 | Abnormal arachnoid mater morphology |
HP:0002624 | Abnormal venous morphology |
HP:0002289 | Alopecia universalis |
HP:0009588 | Vestibular Schwannoma |
HP:0001648 | Cor pulmonale |
HP:0002091 | Restrictive ventilatory defect |
HP:0002092 | Pulmonary arterial hypertension |
HP:0002113 | Pulmonary infiltrates |
HP:0003138 | Increased blood urea nitrogen |
HP:0003259 | Elevated serum creatinine |
HP:0005180 | Tricuspid regurgitation |
HP:0012585 | Renal atrophy |
HP:0005133 | Right ventricular dilatation |
HP:0005575 | Hemolytic-uremic syndrome |
HP:0001697 | Abnormal pericardium morphology |
HP:0012486 | Myelitis |
HP:0002385 | Paraparesis |
HP:0006706 | Cystic liver disease |
HP:0010880 | Increased nuchal translucency |
HP:0000457 | Depressed nasal ridge |
HP:0002263 | Exaggerated cupid's bow |
HP:0002500 | Abnormality of the cerebral white matter |
HP:0002835 | Aspiration |
HP:0000600 | Abnormality of the pharynx |
HP:0004327 | Abnormal vitreous humor morphology |
HP:0004378 | Abnormality of the anus |
HP:0012374 | obsolete Abnormal globe morphology |
HP:0100768 | Choriocarcinoma |
HP:0030991 | Sclerosing cholangitis |
HP:0006510 | Chronic pulmonary obstruction |
HP:0000710 | Hyperorality |
HP:0001270 | Motor delay |
HP:0001548 | Overgrowth |
HP:0002311 | Incoordination |
HP:0006288 | Advanced eruption of teeth |
HP:0006323 | Premature loss of primary teeth |
HP:0009890 | High anterior hairline |
HP:0100034 | Motor tics |
HP:0100035 | Phonic tics |
HP:0000348 | High forehead |
HP:0001520 | Large for gestational age |
HP:0001239 | Wrist flexion contracture |
HP:0007359 | Focal-onset seizure |
HP:0000430 | Underdeveloped nasal alae |
HP:0007400 | Irregular hyperpigmentation |
HP:0100495 | Mastocytosis |
HP:0012378 | Fatigue |
HP:0002046 | Heat intolerance |
HP:0003270 | Abdominal distention |
HP:0002180 | Neurodegeneration |
HP:0003493 | Antinuclear antibody positivity |
HP:0030057 | Autoimmune antibody positivity |
HP:0006802 | Abnormal anterior horn cell morphology |
HP:0000064 | Hypoplastic labia minora |
HP:0000338 | Hypomimic face |
HP:0001642 | Pulmonic stenosis |
HP:0011344 | Severe global developmental delay |
HP:0200007 | Abnormal size of the palpebral fissures |
HP:0004464 | Postauricular pit |
HP:0000130 | Abnormality of the uterus |
HP:0000137 | Abnormality of the ovary |
HP:0000142 | Abnormal vagina morphology |
HP:0000370 | Abnormality of the middle ear |
HP:0011787 | Central hypothyroidism |
HP:0000274 | Small face |
HP:0000446 | Narrow nasal bridge |
HP:0000622 | Blurred vision |
HP:0001245 | Small thenar eminence |
HP:0009601 | Aplasia/Hypoplasia of the thumb |
HP:0011343 | Moderate global developmental delay |
HP:0000419 | Abnormality of the nasal septum |
HP:0000502 | Abnormal conjunctiva morphology |
HP:0000591 | Abnormal sclera morphology |
HP:0000615 | Abnormal pupil morphology |
HP:0001163 | Abnormality of the metacarpal bones |
HP:0001832 | Abnormal metatarsal morphology |
HP:0001850 | Abnormality of the tarsal bones |
HP:0010490 | Abnormality of the palmar creases |
HP:0010881 | Abnormality of the umbilical cord |
HP:0009113 | Diaphragmatic weakness |
HP:0011664 | Left ventricular noncompaction cardiomyopathy |
HP:0100240 | Synostosis of joints |
HP:0001838 | Rocker bottom foot |
HP:0003717 | Minimal subcutaneous fat |
HP:0001339 | Lissencephaly |
HP:0001591 | Bell-shaped thorax |
HP:0002655 | Spondyloepiphyseal dysplasia |
HP:0002983 | Micromelia |
HP:0003016 | Metaphyseal widening |
HP:0009826 | Limb undergrowth |
HP:0004488 | Macrocephaly at birth |
HP:0001695 | Cardiac arrest |
HP:0001712 | Left ventricular hypertrophy |
HP:0100775 | Dural ectasia |
HP:0000846 | Adrenal insufficiency |
HP:0002925 | Increased thyroid-stimulating hormone level |
HP:0100646 | Thyroiditis |
HP:0000836 | Hyperthyroidism |
HP:0004414 | Abnormality of the pulmonary artery |
HP:0000465 | Webbed neck |
HP:0000723 | Restrictive behavior |
HP:0002253 | Colonic diverticula |
HP:0001310 | Dysmetria |
HP:0000093 | Proteinuria |
HP:0002907 | Microscopic hematuria |
HP:0003073 | Hypoalbuminemia |
HP:0004315 | Decreased circulating IgG level |
HP:0000795 | Abnormality of the urethra |
HP:0001015 | Prominent superficial veins |
HP:0004691 | 2-3 toe syndactyly |
HP:0005328 | Progeroid facial appearance |
HP:0005487 | Prominent metopic ridge |
HP:0007552 | Abnormal subcutaneous fat tissue distribution |
HP:0100678 | Premature skin wrinkling |
HP:0031137 | Storage in hepatocytes |
HP:0002521 | Hypsarrhythmia |
HP:0005390 | Recurrent opportunistic infections |
HP:0002716 | Lymphadenopathy |
HP:0005379 | obsolete Severe T lymphocytopenia |
HP:0004432 | Agammaglobulinemia |
HP:0006695 | Atrioventricular canal defect |
HP:0001733 | Pancreatitis |
HP:0002350 | Cerebellar cyst |
HP:0012110 | Hypoplasia of the pons |
HP:0001948 | Alkalosis |
HP:0003113 | Hypochloremia |
HP:0003155 | Elevated alkaline phosphatase |
HP:0003542 | Increased serum pyruvate |
HP:0000421 | Epistaxis |
HP:0200136 | Oral-pharyngeal dysphagia |
HP:0000805 | Enuresis |
HP:0005616 | Accelerated skeletal maturation |
HP:0002459 | obsolete Dysautonomia |
HP:0007302 | Bipolar affective disorder |
HP:0100602 | Preeclampsia |
HP:0100508 | Abnormality of vitamin metabolism |
HP:0001140 | Limbal dermoid |
HP:0000143 | Rectovaginal fistula |
HP:0001746 | Asplenia |
HP:0012715 | Profound hearing impairment |
HP:0001748 | Polysplenia |
HP:0003072 | Hypercalcemia |
HP:0002905 | Hyperphosphatemia |
HP:0002901 | Hypocalcemia |
HP:0001367 | Abnormal joint morphology |
HP:0010562 | Keloids |
HP:0004430 | Severe combined immunodeficiency |
HP:0000003 | Multicystic kidney dysplasia |
HP:0010980 | Hyperlipoproteinemia |
HP:0002155 | Hypertriglyceridemia |
HP:0000520 | Proptosis |
HP:0000180 | Lobulated tongue |
HP:0005486 | Small fontanelle |
HP:0000891 | Cervical ribs |
HP:0002557 | Hypoplastic nipples |
HP:0009112 | Aplasia of the left hemidiaphragm |
HP:0001719 | Double outlet right ventricle |
HP:0001682 | Subvalvular aortic stenosis |
HP:0001667 | Right ventricular hypertrophy |
HP:0002101 | Abnormal lung lobation |
HP:0002202 | Pleural effusion |
HP:0002566 | Intestinal malrotation |
HP:0004510 | Pancreatic islet-cell hyperplasia |
HP:0001747 | Accessory spleen |
HP:0002181 | Cerebral edema |
HP:0000967 | Petechiae |
HP:0009702 | Carpal synostosis |
HP:0000927 | Abnormality of skeletal maturation |
HP:0004348 | Abnormality of bone mineral density |
HP:0003019 | Abnormality of the wrist |
HP:0003063 | Abnormality of the humerus |
HP:0001059 | Pterygium |
HP:0001528 | Hemihypertrophy |
HP:0011228 | Horizontal eyebrow |
HP:0000766 | Abnormality of the sternum |
HP:0001254 | Lethargy |
HP:0002360 | Sleep disturbance |
HP:0001063 | Acrocyanosis |
HP:0001769 | Broad foot |
HP:0010280 | Stomatitis |
HP:0001288 | Gait disturbance |
HP:0008330 | Reduced von Willebrand factor activity |
HP:0001954 | Recurrent fever |
HP:0004311 | Abnormal macrophage morphology |
HP:0012539 | Non-Hodgkin lymphoma |
HP:0002074 | Increased neuronal autofluorescent lipopigment |
HP:0002973 | Abnormality of the forearm |
HP:0003203 | Impaired oxidative burst |
HP:0003027 | Mesomelia |
HP:0002754 | Osteomyelitis |
HP:0004431 | Complement deficiency |
HP:0001258 | Spastic paraplegia |
HP:0012811 | Wide nasal ridge |
HP:0011832 | Narrow nasal tip |
HP:0000288 | Abnormality of the philtrum |
HP:0002357 | Dysphasia |
HP:0000871 | Panhypopituitarism |
HP:0000233 | Thin vermilion border |
HP:0003281 | Increased serum ferritin |
HP:0010752 | Cleft mandible |
HP:0000437 | Depressed nasal tip |
HP:0000453 | Choanal atresia |
HP:0000863 | Central diabetes insipidus |
HP:0000058 | Abnormality of the labia |
HP:0007418 | Alopecia totalis |
HP:0100765 | Abnormality of the tonsils |
HP:0100747 | Macrodactyly of toe |
HP:0002109 | obsolete Abnormality of the bronchi |
HP:0011950 | Bronchiolitis |
HP:0002850 | Decreased circulating total IgM |
HP:0001395 | Hepatic fibrosis |
HP:0010701 | Abnormal immunoglobulin level |
HP:0009928 | Thick nasal alae |
HP:0010807 | Open bite |
HP:0002126 | Polymicrogyria |
HP:0002900 | Hypokalemia |
HP:0000155 | Oral ulcer |
HP:0000135 | Hypogonadism |
HP:0100783 | Breast aplasia |
HP:0000336 | Prominent supraorbital ridges |
HP:0010557 | Overlapping fingers |
HP:0005100 | Premature birth following premature rupture of fetal membranes |
HP:0002594 | Pancreatic hypoplasia |
HP:0010109 | Short hallux |
HP:0002334 | Abnormality of the cerebellar vermis |
HP:0003326 | Myalgia |
HP:0001645 | Sudden cardiac death |
HP:0001612 | Weak cry |
HP:0001618 | Dysphonia |
HP:0001336 | Myoclonus |
HP:0001283 | Bulbar palsy |
HP:0002080 | Intention tremor |
HP:0002174 | Postural tremor |
HP:0002064 | Spastic gait |
HP:0009800 | Maternal diabetes |
HP:0001662 | Bradycardia |
HP:0006595 | Scapulohumeral synostosis |
HP:0005815 | Supernumerary ribs |
HP:0000307 | Pointed chin |
HP:0012371 | Hyperplasia of midface |
HP:0002643 | Neonatal respiratory distress |
HP:0002093 | Respiratory insufficiency |
HP:0010310 | Chylothorax |
HP:0006376 | Limited elbow flexion |
HP:0006467 | Limited shoulder movement |
HP:0010505 | Limitation of movement at ankles |
HP:0010501 | Limitation of knee mobility |
HP:0009896 | Abnormality of the antitragus |
HP:0004404 | Abnormal nipple morphology |
HP:0011957 | Abnormal pectoral muscle morphology |
HP:0000777 | Abnormality of the thymus |
HP:0000418 | Narrow nasal ridge |
HP:0001572 | Macrodontia |
HP:0002967 | Cubitus valgus |
HP:0000988 | Skin rash |
HP:0009733 | Glioma |
HP:0012452 | Restless legs |
HP:0100031 | Neoplasm of the thyroid gland |
HP:0030127 | Endometriosis |
HP:0000123 | Nephritis |
HP:0001974 | Leukocytosis |
HP:0010976 | B lymphocytopenia |
HP:0000010 | Recurrent urinary tract infections |
HP:0100807 | Long fingers |
HP:0000653 | Sparse eyelashes |
HP:0000171 | Microglossia |
HP:0002575 | Tracheoesophageal fistula |
HP:0009933 | Narrow naris |
HP:0000883 | Thin ribs |
HP:0000121 | Nephrocalcinosis |
HP:0001349 | Facial diplegia |
HP:0012037 | Pectoralis amyotrophy |
HP:0100560 | Upper limb asymmetry |
HP:0005684 | Distal arthrogryposis |
HP:0010722 | Asymmetry of the ears |
HP:0009380 | Aplasia of the fingers |
HP:0001657 | Prolonged QT interval |
HP:0002040 | Esophageal varix |
HP:0000613 | Photophobia |
HP:0000561 | Absent eyelashes |
HP:0002223 | Absent eyebrow |
HP:0002591 | Polyphagia |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002419 | Molar tooth sign on MRI |
HP:0001010 | Hypopigmentation of the skin |
HP:0005772 | Aplasia/Hypoplasia of the tibia |
HP:0002211 | White forelock |
HP:0007126 | Proximal amyotrophy |
HP:0003798 | Nemaline bodies |
HP:0006533 | Bronchodysplasia |
HP:0003391 | Gowers sign |
HP:0000771 | Gynecomastia |
HP:0100785 | Insomnia |
HP:0010529 | Echolalia |
HP:0000363 | Abnormality of earlobe |
HP:0002612 | Congenital hepatic fibrosis |
HP:0006721 | Acute lymphoblastic leukemia |
HP:0001958 | Nonketotic hypoglycemia |
HP:0003457 | EMG abnormality |
HP:0010636 | Schizencephaly |
HP:0005266 | Intestinal polyp |
HP:0200063 | Colorectal polyposis |
HP:0001762 | Talipes equinovarus |
HP:0000056 | Abnormality of the clitoris |
HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
HP:0002072 | Chorea |
HP:0008734 | Decreased testicular size |
HP:0002136 | Broad-based gait |
HP:0010958 | Bilateral renal agenesis |
HP:0002510 | Spastic tetraplegia |
HP:0003234 | Decreased plasma carnitine |
HP:0000720 | Mood swings |
HP:0012638 | Abnormal nervous system physiology |
HP:0002803 | Congenital contracture |
HP:0000152 | Abnormality of head or neck |
HP:0004377 | Hematological neoplasm |
HP:0100006 | Neoplasm of the central nervous system |
HP:0012759 | Neurodevelopmental abnormality |
HP:0011805 | Abnormal skeletal muscle morphology |
HP:0003634 | Amyoplasia |
HP:0001507 | Growth abnormality |
HP:0001939 | Abnormality of metabolism/homeostasis |
HP:0011013 | Abnormal circulating carbohydrate concentration |
HP:0410008 | Abnormality of the peripheral nervous system |
HP:0200134 | Epileptic encephalopathy |
HP:0001881 | Abnormal leukocyte morphology |
HP:0005549 | obsolete Congenital neutropenia |
HP:0004439 | Craniofacial dysostosis |
HP:0012443 | Abnormality of brain morphology |
HP:0000202 | Oral cleft |
HP:0011842 | Abnormality of skeletal morphology |
HP:0003808 | Abnormal muscle tone |
HP:0001574 | Abnormality of the integument |
HP:0030056 | Uncombable hair |
HP:0003549 | Abnormality of connective tissue |
HP:0030875 | Abnormality of pulmonary circulation |
HP:0000118 | Phenotypic abnormality |
HP:0012469 | Infantile spasms |
HP:0032894 | Seizure precipitated by febrile infection |
HP:0100661 | Trigeminal neuralgia |
HP:0012207 | Reduced sperm motility |
HP:0000798 | Oligospermia |
HP:0012864 | Abnormal sperm morphology |
HP:0008232 | Elevated circulating follicle stimulating hormone level |
HP:0040306 | Decreased male libido |
HP:0012208 | Immotile sperm |
HP:0000027 | Azoospermia |
HP:0000870 | Increased circulating prolactin concentration |
HP:0008187 | Absence of secondary sex characteristics |
HP:0010469 | Absent testis |
HP:0011969 | Elevated circulating luteinizing hormone level |
HP:0040171 | Decreased serum testosterone level |
HP:0003251 | Male infertility |
HP:0009804 | Reduced number of teeth |
HP:0000548 | Cone/cone-rod dystrophy |
HP:0000546 | Retinal degeneration |
HP:0008002 | Abnormality of macular pigmentation |
HP:0000608 | Macular degeneration |
HP:0030611 | Retinal pigment epithelial loss on macular OCT |
HP:0001135 | Chorioretinal dystrophy |
HP:0030468 | Abnormal multifocal electroretinogram |
HP:00030532 | Visual acuity test abnormality |
HP:0007401 | Macular atrophy |
HP:0030466 | Abnormal full-field electroretinogram |
HP:007737 | Bone spicule pigmentation of the retina |
HP:0011342 | Mild global developmental delay |
HP:0030610 | Photoreceptor outer segment loss on macular OCT |
HP:0007722 | Retinal pigment epithelial atrophy |
HP:0030493 | Abnormality of foveal pigmentation |
HP:0007843 | Attenuation of retinal blood vessels |
HP:0007754 | Macular dystrophy |
HP:0011509 | Macular hyperpigmentation |
HP:0008527 | Congenital sensorineural hearing impairment |
HP:0200070 | Peripheral retinal atrophy |
HP:0007793 | Granular macular appearance |
HP:0007987 | Progressive visual field defects |
HP:0100817 | Renovascular hypertension |
HP:0007868 | obsolete Age-related macular degeneration |
HP:0030527 | Very severe constriction of peripheral visual field |
HP:0030551 | Visual acuity light perception with projection |
HP:0011505 | Cystoid macular edema |
HP:0010442 | Polydactyly |
HP:0007642 | Congenital stationary night blindness |
HP:0009073 | Progressive proximal muscle weakness |
HP:0003741 | Congenital muscular dystrophy |
HP:0100299 | Muscle fiber inclusion bodies |
HP:0003540 | Impaired platelet aggregation |
HP:0010489 | Absent palmar crease |
HP:0009824 | Upper limb undergrowth |
HP:0002395 | Lower limb hyperreflexia |
HP:0001138 | Optic neuropathy |
HP:0007103 | Hypointensity of cerebral white matter on MRI |
HP:0003458 | EMG: myopathic abnormalities |
HP:0002987 | Elbow flexion contracture |
HP:0006466 | Ankle flexion contracture |
HP:0008458 | Progressive congenital scoliosis |
HP:0000473 | Torticollis |
HP:0011800 | Midface retrusion |
HP:0000597 | Ophthalmoparesis |
HP:0005853 | Congenital foot contraction deformities |
HP:0007002 | Motor axonal neuropathy |
HP:0003327 | Axial muscle weakness |
HP:0003306 | Spinal rigidity |
HP:0002068 | Neuromuscular dysphagia |
HP:0001002 | obsolete Decreased subcutaneous fat |
HP:0002880 | obsolete Respiratory difficulties |
HP:0006829 | Severe muscular hypotonia |
HP:0011448 | Ankle clonus |
HP:0003487 | Babinski sign |
HP:0002378 | Hand tremor |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0002579 | Gastrointestinal dysmotility |
HP:0001041 | Facial erythema |
HP:0040180 | Hyperkeratosis pilaris |
HP:0001382 | Joint hypermobility |
HP:0003722 | Neck flexor weakness |
HP:0003323 | Progressive muscle weakness |
HP:0002380 | Fasciculations |
HP:0012785 | Flexion contracture of finger |
HP:0007936 | Restrictive external ophthalmoplegia |
HP:0030319 | Weakness of facial musculature |
HP:0008936 | Muscular hypotonia of the trunk |
HP:0030230 | Central core regions in muscle fibers |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0001290 | Generalized hypotonia |
HP:0002421 | Poor head control |
HP:0010301 | Spinal dysraphism |
HP:0004303 | Abnormal muscle fiber morphology |
HP:0009046 | Difficulty running |
HP:0003715 | Myofibrillar myopathy |
HP:0000467 | Neck muscle weakness |
HP:0001999 | Abnormal facial shape |
HP:0002751 | Kyphoscoliosis |
HP:0030223 | Perseveration |
HP:0002344 | Progressive neurologic deterioration |
HP:0002522 | Areflexia of lower limbs |
HP:0003805 | Rimmed vacuoles |
HP:0005781 | Contractures of the large joints |
HP:0040083 | Toe walking |
HP:0003749 | Pelvic girdle muscle weakness |
HP:0012444 | Brain atrophy |
HP:0003738 | Exercise-induced myalgia |
HP:0003756 | Skeletal myopathy |
HP:0002492 | Morphological abnormality of the corticospinal tract |
HP:0100302 | Muscle fiber tubuloreticular inclusions |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0003473 | Fatigable weakness |
HP:0002077 | Migraine with aura |
HP:0100559 | Lower limb asymmetry |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0011623 | Muscular ventricular septal defect |
HP:0002191 | Progressive spasticity |
HP:0003390 | Sensory axonal neuropathy |
HP:0006986 | Upper limb spasticity |
HP:0002464 | Spastic dysarthria |
HP:0001308 | Tongue fasciculations |
HP:0007010 | Poor fine motor coordination |
HP:0003737 | Mitochondrial myopathy |
HP:0008012 | obsolete Congenital myopia |
HP:0008872 | Feeding difficulties in infancy |
HP:0005750 | Contractures of the joints of the lower limbs |
HP:0009067 | Progressive spinal muscular atrophy |
HP:0001623 | Breech presentation |
HP:0001374 | Congenital hip dislocation |
HP:0002359 | Frequent falls |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0011410 | Caesarian section |
HP:0008947 | Infantile muscular hypotonia |
HP:0100501 | Recurrent bronchiolitis |
HP:0003789 | Minicore myopathy |
HP:0000544 | External ophthalmoplegia |
HP:0001605 | Vocal cord paralysis |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0012507 | Weakness of orbicularis oculi muscle |
HP:0009816 | Lower limb undergrowth |
HP:0008935 | Generalized neonatal hypotonia |
HP:0003484 | Upper limb muscle weakness |
HP:0008331 | Elevated creatine kinase after exercise |
HP:0001315 | Reduced tendon reflexes |
HP:0012473 | Tongue atrophy |
HP:0003273 | Hip contracture |
HP:0006380 | Knee flexion contracture |
HP:0003752 | Episodic flaccid weakness |
HP:0100298 | Motheaten muscle fibers |
HP:0003693 | Distal amyotrophy |
HP:0002167 | Neurological speech impairment |
HP:0003388 | Easy fatigability |
HP:0001348 | Brisk reflexes |
HP:0003445 | EMG: neuropathic changes |
HP:0009063 | Progressive distal muscle weakness |
HP:0003720 | Generalized muscle hypertrophy |
HP:0002493 | Upper motor neuron dysfunction |
HP:0012448 | Delayed myelination |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0006879 | Pontocerebellar atrophy |
HP:0200101 | Decreased/absent ankle reflexes |
HP:0009020 | Exercise-induced muscle fatigue |
HP:0002067 | Bradykinesia |
HP:0012751 | Abnormal basal ganglia MRI signal intensity |
HP:0003355 | Aminoaciduria |
HP:0012450 | Chronic constipation |
HP:0011834 | Moyamoya phenomenon |
HP:0001297 | Stroke |
HP:0200049 | Upper limb hypertonia |
HP:0008981 | Calf muscle hypertrophy |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0006957 | Loss of ability to walk |
HP:0030098 | Reduced muscle dystrophin expression |
HP:0030115 | Reduced muscle fiber dysferlin |
HP:0002058 | Myopathic facies |
HP:0007858 | Chorioretinal lacunae |
HP:0006657 | Hypoplasia of first ribs |
HP:0007165 | Periventricular heterotopia |
HP:0009779 | 3-4 toe syndactyly |
HP:0010665 | Bilateral coxa valga |
HP:0007598 | Bilateral single transverse palmar creases |
HP:0006101 | Finger syndactyly |
HP:0010511 | Long toe |
HP:0002370 | Poor coordination |
HP:0000480 | Retinal coloboma |
HP:0001770 | Toe syndactyly |
HP:0010851 | EEG with burst suppression |
HP:0002791 | Hypoventilation |
HP:0040075 | Hypopituitarism |
HP:0012506 | Small pituitary gland |
HP:0000538 | Pseudopapilledema |
HP:0012717 | Severe conductive hearing impairment |
HP:0001370 | Rheumatoid arthritis |
HP:0000016 | Urinary retention |
HP:0012537 | Food intolerance |
HP:0011297 | Abnormal digit morphology |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0030148 | Heart murmur |
HP:0045018 | Partial duplication of eyebrows |
HP:0008998 | Pectoralis hypoplasia |
HP:0001707 | Abnormal right ventricle morphology |
HP:0001540 | Diastasis recti |
HP:0100693 | Iridodonesis |
HP:0002265 | Large fleshy ears |
HP:0001132 | Lens subluxation |
HP:0004927 | Pulmonary artery dilatation |
HP:0005619 | Thoracolumbar kyphosis |
HP:0008619 | Bilateral sensorineural hearing impairment |
HP:0001045 | Vitiligo |
HP:0009124 | Abnormal adipose tissue morphology |
HP:0002979 | Bowing of the legs |
HP:0000455 | Broad nasal tip |
HP:0001007 | Hirsutism |
HP:0010314 | Premature thelarche |
HP:0000075 | Renal duplication |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0001052 | Nevus flammeus |
HP:0200048 | Cyanotic episode |
HP:0001902 | Giant platelets |
HP:0030043 | Hip subluxation |
HP:0002938 | Lumbar hyperlordosis |
HP:0030084 | Clinodactyly |
HP:0005560 | Imbalanced hemoglobin synthesis |
HP:0001539 | Omphalocele |
HP:0009778 | Short thumb |
HP:0002277 | Horner syndrome |
HP:0011701 | Multifocal atrial tachycardia |
HP:0005274 | Prominent nasal tip |
HP:0001262 | Excessive daytime somnolence |
HP:0001285 | Spastic tetraparesis |
HP:0012171 | Stereotypical hand wringing |
HP:0002518 | Abnormality of the periventricular white matter |
HP:0005692 | Joint hyperflexibility |
HP:0007440 | Generalized hyperpigmentation |
HP:0001805 | Onychogryposis |
HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
HP:0003763 | Bruxism |
HP:0010500 | Hyperextensibility of the knee |
HP:0040115 | Abnormality of the Eustachian tube |
HP:0008751 | Laryngeal cleft |
HP:0000403 | Recurrent otitis media |
HP:0001787 | Abnormal delivery |
HP:0002571 | Achalasia |
HP:0002615 | Hypotension |
HP:0003550 | Predominantly lower limb lymphedema |
HP:0030363 | Primary Caesarian section |
HP:0001727 | Thromboembolic stroke |
HP:0100603 | Toxemia of pregnancy |
HP:0010836 | Abnormal circulating copper concentration |
HP:0000356 | Abnormality of the outer ear |
HP:0002197 | Generalized-onset seizure |
HP:0011436 | Abnormal maternal serum screening |
HP:0003517 | Birth length greater than 97th percentile |
HP:0003561 | Birth length less than 3rd percentile |
HP:0012188 | Hyperemesis gravidarum |
HP:0010519 | Increased fetal movement |
HP:0030244 | Maternal fever in pregnancy |
HP:0008071 | Maternal hypertension |
HP:0100622 | Maternal seizure |
HP:0011438 | Maternal teratogenic exposure |
HP:0001998 | Neonatal hypoglycemia |
HP:0040187 | Neonatal sepsis |
HP:0002033 | Poor suck |
HP:0006579 | Prolonged neonatal jaundice |
HP:0001724 | obsolete Aortic dilatation |
HP:0010621 | Cutaneous syndactyly of toes |
HP:0001880 | Eosinophilia |
HP:0000162 | Glossoptosis |
HP:0100578 | Lipoatrophy |
HP:0002562 | Low-set nipples |
HP:0012893 | Neck muscle hypertrophy |
HP:0001027 | Soft, doughy skin |
HP:0100738 | Abnormal eating behavior |
HP:0007328 | Impaired pain sensation |
HP:0002878 | Respiratory failure |
HP:0001776 | Bilateral talipes equinovarus |
HP:0001360 | Holoprosencephaly |
HP:0001973 | Autoimmune thrombocytopenia |
HP:0100749 | Chest pain |
HP:0012531 | Pain |
HP:0007585 | Skin fragility with non-scarring blistering |
HP:0002108 | Spontaneous pneumothorax |
HP:0006562 | Viral hepatitis |
HP:0012647 | Abnormal inflammatory response |
HP:0012088 | Abnormal urinary odor |
HP:0011458 | Abdominal symptom |
HP:0002829 | Arthralgia |
HP:0010783 | Erythema |
HP:0010307 | Stridor |
HP:0001269 | Hemiparesis |
HP:0006532 | Recurrent pneumonia |
HP:0002580 | Volvulus |
HP:0012387 | Bronchitis |
HP:0001266 | Choreoathetosis |
HP:0001531 | Failure to thrive in infancy |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0001361 | Nystagmus-induced head nodding |
HP:0001997 | Gout |
HP:0000965 | Cutis marmorata |
HP:0010316 | Ebstein anomaly of the tricuspid valve |
HP:0010543 | Opsoclonus |
HP:0007704 | Paroxysmal involuntary eye movements |
HP:0030364 | Secondary Caesarian section |
HP:0007738 | Uncontrolled eye movements |
HP:0030366 | Delivery by Odon device |
HP:0011411 | Forceps delivery |
HP:0030369 | Induced vaginal delivery |
HP:0005268 | Spontaneous abortion |
HP:0030365 | Vaginal birth after Caesarian |
HP:0011412 | Ventouse delivery |
HP:0002572 | Episodic vomiting |
HP:0030350 | Erythematous papule |
HP:0001386 | Joint swelling |
HP:0000147 | Polycystic ovaries |
HP:0012412 | Premature adrenarche |
HP:0004411 | Deviated nasal septum |
HP:0040183 | Encopresis |
HP:0100507 | Reduced blood folate concentration |
HP:0007011 | Fourth cranial nerve palsy |
HP:0000375 | Abnormal cochlea morphology |
HP:0009911 | Abnormal temporal bone morphology |
HP:0000081 | Duplicated collecting system |
HP:0006894 | Hypoplastic olfactory lobes |
HP:0011380 | Morphological abnormality of the semicircular canal |
HP:0000110 | Renal dysplasia |
HP:0030025 | Auricular pit |
HP:0010044 | Short 4th metacarpal |
HP:0010047 | Short 5th metacarpal |
HP:0000201 | Pierre-Robin sequence |
HP:0100837 | Atrophodermia vermiculata |
HP:0002673 | Coxa valga |
HP:0001476 | Delayed closure of the anterior fontanelle |
HP:0011069 | Increased number of teeth |
HP:0009879 | Simplified gyral pattern |
HP:0006315 | Single median maxillary incisor |
HP:0001194 | Abnormalities of placenta or umbilical cord |
HP:0100767 | Abnormal placenta morphology |
HP:0006543 | Cardiorespiratory arrest |
HP:0003074 | Hyperglycemia |
HP:0000842 | Hyperinsulinemia |
HP:0011951 | Aspiration pneumonia |
HP:0006528 | Chronic lung disease |
HP:0002383 | Encephalitis |
HP:0000388 | Otitis media |
HP:0002530 | Axial dystonia |
HP:0002780 | Bronchomalacia |
HP:0008755 | Laryngotracheomalacia |
HP:0000308 | Microretrognathia |
HP:0002786 | Tracheobronchomalacia |
HP:0012389 | Appendicular hypotonia |
HP:0011323 | Cleft of chin |
HP:0000417 | Slender nose |
HP:0001863 | Toe clinodactyly |
HP:0008386 | Aplasia/Hypoplasia of the nails |
HP:0006989 | Dysplastic corpus callosum |
HP:0100954 | Open operculum |
HP:0004482 | Relative macrocephaly |
HP:3000033 | Abnormal nasopharyngeal adenoid morphology |
HP:0009062 | Infantile axial hypotonia |
HP:0002189 | obsolete Excessive daytime sleepiness |
HP:0002141 | Gait imbalance |
HP:0012734 | Ketotic hypoglycemia |
HP:0005968 | Temperature instability |
HP:0012538 | Gluten intolerance |
HP:0000979 | Purpura |
HP:0001988 | Recurrent hypoglycemia |
HP:0001488 | Bilateral ptosis |
HP:0011229 | Broad eyebrow |
HP:0004440 | Coronal craniosynostosis |
HP:0004453 | Overfolding of the superior helices |
HP:0012547 | Abnormal involuntary eye movements |
HP:0100814 | Blue nevus |
HP:0010751 | Dimple chin |
HP:0007087 | obsolete Involuntary jerking movements |
HP:0012498 | Nuchal cord |
HP:0002472 | Small cerebral cortex |
HP:0100307 | Cerebellar hemisphere hypoplasia |
HP:0002151 | Increased serum lactate |
HP:0001698 | Pericardial effusion |
HP:0006903 | Congenital peripheral neuropathy |
HP:0006895 | Lower limb hypertonia |
HP:0002744 | Bilateral cleft lip and palate |
HP:0010664 | Fusion of the left and right thalami |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000474 | Thickened nuchal skin fold |
HP:0000105 | Enlarged kidney |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000104 | Renal agenesis |
HP:0001362 | Calvarial skull defect |
HP:0008245 | Pituitary hypothyroidism |
HP:0001552 | Barrel-shaped chest |
HP:0006297 | Hypoplasia of dental enamel |
HP:0100023 | Recurrent hand flapping |
HP:0005518 | Increased mean corpuscular volume |
HP:0012418 | Hypoxemia |
HP:0100259 | Postaxial polydactyly |
HP:0010814 | Abnormal position of hair whorl |
HP:0003764 | Nevus |
HP:0000445 | Wide nose |
HP:0010677 | Enuresis nocturna |
HP:0001510 | Growth delay |
HP:0012428 | Prominent calcaneus |
HP:0012471 | Thick vermilion border |
HP:0007110 | Central hypoventilation |
HP:0010614 | Fibroma |
HP:0001034 | Hypermelanotic macule |
HP:0011365 | Patchy hypopigmentation of hair |
HP:0001920 | Renal artery stenosis |
HP:0002828 | Multiple joint contractures |
HP:0002144 | Tethered cord |
HP:0010964 | Abnormal circulating long-chain fatty-acid concentration |
HP:0010536 | Central sleep apnea |
HP:0011262 | Crimped helix |
HP:0040079 | Irregular dentition |
HP:0011481 | Abnormal lacrimal duct morphology |
HP:0000220 | Velopharyngeal insufficiency |
HP:0002153 | Hyperkalemia |
HP:0002148 | Hypophosphatemia |
HP:0012621 | Persistent cloaca |
HP:0000867 | Secondary hyperparathyroidism |
HP:0003762 | Uterus didelphys |
HP:0100512 | Low levels of vitamin D |
HP:0012156 | Hemophagocytosis |
HP:0008209 | Premature ovarian insufficiency |
HP:0004349 | Reduced bone mineral density |
HP:0001924 | Sideroblastic anemia |
HP:0011703 | Sinus tachycardia |
HP:0010609 | Skin tags |
HP:0002725 | Systemic lupus erythematosus |
HP:0003193 | Allergic rhinitis |
HP:0006896 | Hypnopompic hallucinations |
HP:0002524 | Cataplexy |
HP:0005227 | Adenomatous colonic polyposis |
HP:0012173 | Orthostatic tachycardia |
HP:0001271 | Polyneuropathy |
HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
HP:0000625 | Eyelid coloboma |
HP:0009754 | Fibrous syngnathia |
HP:0012478 | Temporomandibular joint ankylosis |
HP:0001233 | 2-3 finger syndactyly |
HP:0000811 | Abnormal external genitalia |
HP:0005120 | Abnormal cardiac atrium morphology |
HP:0008388 | Abnormal toenail morphology |
HP:0011467 | Absent gallbladder |
HP:0010760 | Absent toe |
HP:0001545 | Anteriorly placed anus |
HP:0001640 | Cardiomegaly |
HP:0002990 | Fibular aplasia |
HP:0004443 | Lambdoidal craniosynostosis |
HP:0008569 | Microtia, second degree |
HP:0006277 | Pancreatic hyperplasia |
HP:0010445 | Primum atrial septal defect |
HP:0011640 | Single coronary artery origin |
HP:0011608 | Type II truncus arteriosus |
HP:0011327 | Posterior plagiocephaly |
HP:0007655 | Eversion of lateral third of lower eyelids |
HP:0010747 | Medial flaring of the eyebrow |
HP:0005957 | Breathing dysregulation |
HP:0000992 | Cutaneous photosensitivity |
HP:0011995 | Atrial septal dilatation |
HP:0000377 | Abnormality of the pinna |
HP:0011266 | Microtia, first degree |
HP:0012650 | Perisylvian polymicrogyria |
HP:0004970 | Ascending tubular aorta aneurysm |
HP:0008348 | Decreased circulating IgG2 level |
HP:0012115 | Hepatitis |
HP:0006979 | Sleep-wake cycle disturbance |
HP:0008587 | Mild neurosensory hearing impairment |
HP:0006097 | 3-4 finger syndactyly |
HP:0005263 | Gastritis |
HP:0200043 | Verrucae |
HP:0009600 | Flexion contracture of thumb |
HP:0010818 | Generalized tonic seizure |
HP:0002599 | Head titubation |
HP:0002090 | Pneumonia |
HP:0030423 | Splenic cyst |
HP:0030187 | Titubation |
HP:0002375 | Hypokinesia |
HP:0007166 | Paroxysmal dyskinesia |
HP:0003077 | Hyperlipidemia |
HP:0000017 | Nocturia |
HP:0100555 | Asymmetric growth |
HP:0011847 | Giant cell tumor of bone |
HP:0000112 | Nephropathy |
HP:0000246 | Sinusitis |
HP:0001012 | Multiple lipomas |
HP:0000851 | Congenital hypothyroidism |
HP:0002345 | Action tremor |
HP:0002677 | Small foramen magnum |
HP:0011947 | Respiratory tract infection |
HP:0012151 | Hemothorax |
HP:0005988 | Congenital muscular torticollis |
HP:0002329 | Drowsiness |
HP:0012395 | Seasonal allergy |
HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
HP:0001864 | Clinodactyly of the 5th toe |
HP:0006934 | Congenital nystagmus |
HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
HP:0007894 | Hypopigmentation of the fundus |
HP:0012377 | Hemianopia |
HP:0002354 | Memory impairment |
HP:0000872 | Hashimoto thyroiditis |
HP:0002519 | Hypnagogic hallucinations |
HP:0010647 | Abnormal elasticity of skin |
HP:0002592 | Gastric ulcer |
HP:0004938 | Tortuous cerebral arteries |
HP:0004948 | Vascular tortuosity |
HP:0002516 | Increased intracranial pressure |
HP:0006460 | Increased laxity of ankles |
HP:0002317 | Unsteady gait |
HP:0000182 | Movement abnormality of the tongue |
HP:0009887 | Abnormality of hair pigmentation |
HP:0005824 | Clinodactyly of the 2nd toe |
HP:0002212 | Curly hair |
HP:0009803 | Short phalanx of finger |
HP:0000572 | Visual loss |
HP:0005216 | Impaired mastication |
HP:0000619 | Impaired convergence |
HP:0002403 | Positive Romberg sign |
HP:0008744 | Abnormal aryepiglottic fold morphology |
HP:0002374 | Diminished movement |
HP:0008277 | Abnormal blood zinc concentration |
HP:0012781 | Mid-frequency hearing loss |
HP:0100758 | Gangrene |
HP:0003256 | Abnormality of the coagulation cascade |
HP:0004387 | Enterocolitis |
HP:0011029 | Internal hemorrhage |
HP:0011649 | Patent ductus arteriosus after premature birth |
HP:0012050 | Anasarca |
HP:0001683 | Ectopia cordis |
HP:0011682 | Perimembranous ventricular septal defect |
HP:0010624 | Aplastic/hypoplastic toenail |
HP:0002705 | High, narrow palate |
HP:0011340 | Incomplete cleft of the upper lip |
HP:0011613 | Interrupted aortic arch type B |
HP:0006167 | Prominent proximal interphalangeal joints |
HP:0002918 | Hypermagnesemia |
HP:0011937 | Hypoplastic fifth toenail |
HP:0001067 | Neurofibromas |
HP:0011403 | Abnormal umbilical cord blood vessels |
HP:0003316 | Butterfly vertebrae |
HP:0002247 | Duodenal atresia |
HP:0008439 | Lumbar hemivertebrae |
HP:0011599 | Mesocardia |
HP:0008467 | Thoracic hemivertebrae |
HP:0004626 | Lumbar scoliosis |
HP:0006808 | Cerebral hypomyelination |
HP:0002926 | Abnormality of thyroid physiology |
HP:0007970 | Congenital ptosis |
"
- },
- "url": "http://purl.obolibrary.org/obo/hp.owl",
- "version": "0.2.0",
- "name": "HPO",
- "title": "Human Phenotype Ontology",
- "status": "draft",
- "experimental": false,
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org",
- "valueSet": "http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes",
- "hierarchyMeaning": "is-a",
- "compositional": false,
- "versionNeeded": false,
- "content": "fragment",
- "count": 1880,
- "filter": [
- {
- "code": "root",
- "operator": [
- "="
- ],
- "value": "True or false."
- },
- {
- "code": "deprecated",
- "operator": [
- "="
- ],
- "value": "True or false."
- },
- {
- "code": "imported",
- "operator": [
- "="
- ],
- "value": "True or false"
- }
- ],
- "property": [
- {
- "code": "parent",
- "description": "Parent codes.",
- "type": "code"
- },
- {
- "code": "imported",
- "description": "Indicates if the concept is imported from another code system.",
- "type": "boolean"
- },
- {
- "code": "root",
- "description": "Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)",
- "type": "boolean"
- },
- {
- "code": "deprecated",
- "description": "Indicates if this concept is deprecated.",
- "type": "boolean"
- }
- ],
- "concept": [
- {
- "code": "HP:0000365",
- "display": "Hearing impairment"
- },
- {
- "code": "HP:0002564",
- "display": "obsolete Malformation of the heart and great vessels"
- },
- {
- "code": "HP:0001028",
- "display": "Hemangioma"
- },
- {
- "code": "HP:0000476",
- "display": "Cystic hygroma"
- },
- {
- "code": "HP:0000568",
- "display": "Microphthalmia"
- },
- {
- "code": "HP:0000518",
- "display": "Cataract"
- },
- {
- "code": "HP:0000612",
- "display": "Iris coloboma"
- },
- {
- "code": "HP:0000567",
- "display": "Chorioretinal coloboma"
- },
- {
- "code": "HP:0000316",
- "display": "Hypertelorism"
- },
- {
- "code": "HP:0000482",
- "display": "Microcornea"
- },
- {
- "code": "HP:0000588",
- "display": "Optic nerve coloboma"
- },
- {
- "code": "HP:0004426",
- "display": "Abnormality of the cheek"
- },
- {
- "code": "HP:0009125",
- "display": "Lipodystrophy"
- },
- {
- "code": "HP:0002023",
- "display": "Anal atresia"
- },
- {
- "code": "HP:0003468",
- "display": "Abnormal vertebral morphology"
- },
- {
- "code": "HP:0000545",
- "display": "Myopia"
- },
- {
- "code": "HP:0000122",
- "display": "Unilateral renal agenesis"
- },
- {
- "code": "HP:0002143",
- "display": "Abnormality of the spinal cord"
- },
- {
- "code": "HP:0003508",
- "display": "Proportionate short stature"
- },
- {
- "code": "HP:0000271",
- "display": "Abnormality of the face"
- },
- {
- "code": "HP:0000637",
- "display": "Long palpebral fissure"
- },
- {
- "code": "HP:0000492",
- "display": "Abnormal eyelid morphology"
- },
- {
- "code": "HP:0000389",
- "display": "Chronic otitis media"
- },
- {
- "code": "HP:0000400",
- "display": "Macrotia"
- },
- {
- "code": "HP:0000405",
- "display": "Conductive hearing impairment"
- },
- {
- "code": "HP:0012712",
- "display": "Mild hearing impairment"
- },
- {
- "code": "HP:0005280",
- "display": "Depressed nasal bridge"
- },
- {
- "code": "HP:0000431",
- "display": "Wide nasal bridge"
- },
- {
- "code": "HP:0000319",
- "display": "Smooth philtrum"
- },
- {
- "code": "HP:0000175",
- "display": "Cleft palate"
- },
- {
- "code": "HP:0001611",
- "display": "Nasal speech"
- },
- {
- "code": "HP:0002099",
- "display": "Asthma"
- },
- {
- "code": "HP:0001397",
- "display": "Hepatic steatosis"
- },
- {
- "code": "HP:0001081",
- "display": "Cholelithiasis"
- },
- {
- "code": "HP:0002650",
- "display": "Scoliosis"
- },
- {
- "code": "HP:0001212",
- "display": "Prominent fingertip pads"
- },
- {
- "code": "HP:0001328",
- "display": "Specific learning disability"
- },
- {
- "code": "HP:0000824",
- "display": "Growth hormone deficiency"
- },
- {
- "code": "HP:0002607",
- "display": "Bowel incontinence"
- },
- {
- "code": "HP:0100731",
- "display": "Transverse facial cleft"
- },
- {
- "code": "HP:0000528",
- "display": "Anophthalmia"
- },
- {
- "code": "HP:0000601",
- "display": "Hypotelorism"
- },
- {
- "code": "HP:0000369",
- "display": "Low-set ears"
- },
- {
- "code": "HP:0001274",
- "display": "Agenesis of corpus callosum"
- },
- {
- "code": "HP:0002084",
- "display": "Encephalocele"
- },
- {
- "code": "HP:0007033",
- "display": "Cerebellar dysplasia"
- },
- {
- "code": "HP:0100336",
- "display": "Bilateral cleft lip"
- },
- {
- "code": "HP:0100337",
- "display": "Bilateral cleft palate"
- },
- {
- "code": "HP:0001511",
- "display": "Intrauterine growth retardation"
- },
- {
- "code": "HP:0011451",
- "display": "Congenital microcephaly"
- },
- {
- "code": "HP:0000324",
- "display": "Facial asymmetry"
- },
- {
- "code": "HP:0000581",
- "display": "Blepharophimosis"
- },
- {
- "code": "HP:0000508",
- "display": "Ptosis"
- },
- {
- "code": "HP:0008551",
- "display": "Microtia"
- },
- {
- "code": "HP:0001631",
- "display": "Atrial septal defect"
- },
- {
- "code": "HP:0000085",
- "display": "Horseshoe kidney"
- },
- {
- "code": "HP:0011927",
- "display": "Short digit"
- },
- {
- "code": "HP:0001156",
- "display": "Brachydactyly"
- },
- {
- "code": "HP:0002066",
- "display": "Gait ataxia"
- },
- {
- "code": "HP:0001250",
- "display": "Seizure"
- },
- {
- "code": "HP:0001263",
- "display": "Global developmental delay"
- },
- {
- "code": "HP:0001562",
- "display": "Oligohydramnios"
- },
- {
- "code": "HP:0001195",
- "display": "Single umbilical artery"
- },
- {
- "code": "HP:0006349",
- "display": "Agenesis of permanent teeth"
- },
- {
- "code": "HP:0000668",
- "display": "Hypodontia"
- },
- {
- "code": "HP:0000677",
- "display": "Oligodontia"
- },
- {
- "code": "HP:0001252",
- "display": "Muscular hypotonia"
- },
- {
- "code": "HP:0003429",
- "display": "CNS hypomyelination"
- },
- {
- "code": "HP:0010864",
- "display": "Intellectual disability, severe"
- },
- {
- "code": "HP:0004325",
- "display": "Decreased body weight"
- },
- {
- "code": "HP:0000666",
- "display": "Horizontal nystagmus"
- },
- {
- "code": "HP:0000218",
- "display": "High palate"
- },
- {
- "code": "HP:0010809",
- "display": "Broad uvula"
- },
- {
- "code": "HP:0000767",
- "display": "Pectus excavatum"
- },
- {
- "code": "HP:0003691",
- "display": "Scapular winging"
- },
- {
- "code": "HP:0002616",
- "display": "Aortic root aneurysm"
- },
- {
- "code": "HP:0001601",
- "display": "Laryngomalacia"
- },
- {
- "code": "HP:0002021",
- "display": "Pyloric stenosis"
- },
- {
- "code": "HP:0001388",
- "display": "Joint laxity"
- },
- {
- "code": "HP:0001187",
- "display": "Hyperextensibility of the finger joints"
- },
- {
- "code": "HP:0000741",
- "display": "Apathy"
- },
- {
- "code": "HP:0000817",
- "display": "Poor eye contact"
- },
- {
- "code": "HP:0000821",
- "display": "Hypothyroidism"
- },
- {
- "code": "HP:0000002",
- "display": "Abnormality of body height"
- },
- {
- "code": "HP:0000079",
- "display": "Abnormality of the urinary system"
- },
- {
- "code": "HP:0000164",
- "display": "Abnormality of the dentition"
- },
- {
- "code": "HP:0000364",
- "display": "Hearing abnormality"
- },
- {
- "code": "HP:0000366",
- "display": "Abnormality of the nose"
- },
- {
- "code": "HP:0000464",
- "display": "Abnormality of the neck"
- },
- {
- "code": "HP:0000707",
- "display": "Abnormality of the nervous system"
- },
- {
- "code": "HP:0000708",
- "display": "Behavioral abnormality"
- },
- {
- "code": "HP:0000769",
- "display": "Abnormality of the breast"
- },
- {
- "code": "HP:0000772",
- "display": "Abnormality of the ribs"
- },
- {
- "code": "HP:0000775",
- "display": "Abnormality of the diaphragm"
- },
- {
- "code": "HP:0000889",
- "display": "Abnormality of the clavicle"
- },
- {
- "code": "HP:0000925",
- "display": "Abnormality of the vertebral column"
- },
- {
- "code": "HP:0001080",
- "display": "Biliary tract abnormality"
- },
- {
- "code": "HP:0001392",
- "display": "Abnormality of the liver"
- },
- {
- "code": "HP:0001438",
- "display": "Abnormal abdomen morphology"
- },
- {
- "code": "HP:0001608",
- "display": "Abnormality of the voice"
- },
- {
- "code": "HP:0001627",
- "display": "Abnormal heart morphology"
- },
- {
- "code": "HP:0001732",
- "display": "Abnormality of the pancreas"
- },
- {
- "code": "HP:0001739",
- "display": "Abnormality of the nasopharynx"
- },
- {
- "code": "HP:0001743",
- "display": "Abnormality of the spleen"
- },
- {
- "code": "HP:0001760",
- "display": "Abnormal foot morphology"
- },
- {
- "code": "HP:0001871",
- "display": "Abnormality of blood and blood-forming tissues"
- },
- {
- "code": "HP:0002031",
- "display": "Abnormal esophagus morphology"
- },
- {
- "code": "HP:0002244",
- "display": "Abnormality of the small intestine"
- },
- {
- "code": "HP:0002246",
- "display": "Abnormality of the duodenum"
- },
- {
- "code": "HP:0002250",
- "display": "Abnormal large intestine morphology"
- },
- {
- "code": "HP:0002644",
- "display": "Abnormality of pelvic girdle bone morphology"
- },
- {
- "code": "HP:0002664",
- "display": "Neoplasm"
- },
- {
- "code": "HP:0002715",
- "display": "Abnormality of the immune system"
- },
- {
- "code": "HP:0002814",
- "display": "Abnormality of the lower limb"
- },
- {
- "code": "HP:0002817",
- "display": "Abnormality of the upper limb"
- },
- {
- "code": "HP:0005483",
- "display": "Abnormal epiglottis morphology"
- },
- {
- "code": "HP:0008777",
- "display": "Abnormal vocal cord morphology"
- },
- {
- "code": "HP:0011844",
- "display": "Abnormal appendicular skeleton morphology"
- },
- {
- "code": "HP:0012732",
- "display": "Anorectal anomaly"
- },
- {
- "code": "HP:0001508",
- "display": "Failure to thrive"
- },
- {
- "code": "HP:0002902",
- "display": "Hyponatremia"
- },
- {
- "code": "HP:0012236",
- "display": "Elevated sweat chloride"
- },
- {
- "code": "HP:0000347",
- "display": "Micrognathia"
- },
- {
- "code": "HP:0000926",
- "display": "Platyspondyly"
- },
- {
- "code": "HP:0001371",
- "display": "Flexion contracture"
- },
- {
- "code": "HP:0001875",
- "display": "Neutropenia"
- },
- {
- "code": "HP:0001888",
- "display": "Lymphopenia"
- },
- {
- "code": "HP:0002857",
- "display": "Genu valgum"
- },
- {
- "code": "HP:0002986",
- "display": "Radial bowing"
- },
- {
- "code": "HP:0003015",
- "display": "Flared metaphysis"
- },
- {
- "code": "HP:0003025",
- "display": "Metaphyseal irregularity"
- },
- {
- "code": "HP:0003097",
- "display": "Short femur"
- },
- {
- "code": "HP:0003300",
- "display": "Ovoid vertebral bodies"
- },
- {
- "code": "HP:0003307",
- "display": "Hyperlordosis"
- },
- {
- "code": "HP:0004209",
- "display": "Clinodactyly of the 5th finger"
- },
- {
- "code": "HP:0004322",
- "display": "Short stature"
- },
- {
- "code": "HP:0005792",
- "display": "Short humerus"
- },
- {
- "code": "HP:0006248",
- "display": "Limited wrist movement"
- },
- {
- "code": "HP:0000944",
- "display": "Abnormality of the metaphysis"
- },
- {
- "code": "HP:0011921",
- "display": "Exudative pleural effusion"
- },
- {
- "code": "HP:0003043",
- "display": "Abnormality of the shoulder"
- },
- {
- "code": "HP:0000290",
- "display": "Abnormality of the forehead"
- },
- {
- "code": "HP:0005288",
- "display": "Abnormality of the nares"
- },
- {
- "code": "HP:0000234",
- "display": "Abnormality of the head"
- },
- {
- "code": "HP:0004323",
- "display": "Abnormality of body weight"
- },
- {
- "code": "HP:0000483",
- "display": "Astigmatism"
- },
- {
- "code": "HP:0011003",
- "display": "High myopia"
- },
- {
- "code": "HP:0000470",
- "display": "Short neck"
- },
- {
- "code": "HP:0030044",
- "display": "Flexion contracture of digit"
- },
- {
- "code": "HP:0100871",
- "display": "Abnormality of the palm"
- },
- {
- "code": "HP:0004334",
- "display": "Dermal atrophy"
- },
- {
- "code": "HP:0001845",
- "display": "Overlapping toe"
- },
- {
- "code": "HP:0000496",
- "display": "Abnormality of eye movement"
- },
- {
- "code": "HP:0001780",
- "display": "Abnormality of toe"
- },
- {
- "code": "HP:0001626",
- "display": "Abnormality of the cardiovascular system"
- },
- {
- "code": "HP:0002086",
- "display": "Abnormality of the respiratory system"
- },
- {
- "code": "HP:0000818",
- "display": "Abnormality of the endocrine system"
- },
- {
- "code": "HP:0012372",
- "display": "Abnormal eye morphology"
- },
- {
- "code": "HP:0009473",
- "display": "Joint contracture of the hand"
- },
- {
- "code": "HP:0003199",
- "display": "Decreased muscle mass"
- },
- {
- "code": "HP:0003202",
- "display": "Skeletal muscle atrophy"
- },
- {
- "code": "HP:0003551",
- "display": "Difficulty climbing stairs"
- },
- {
- "code": "HP:0002355",
- "display": "Difficulty walking"
- },
- {
- "code": "HP:0003546",
- "display": "Exercise intolerance"
- },
- {
- "code": "HP:0003325",
- "display": "Limb-girdle muscle weakness"
- },
- {
- "code": "HP:0003701",
- "display": "Proximal muscle weakness"
- },
- {
- "code": "HP:0003547",
- "display": "Shoulder girdle muscle weakness"
- },
- {
- "code": "HP:0007340",
- "display": "Lower limb muscle weakness"
- },
- {
- "code": "HP:0002168",
- "display": "Scanning speech"
- },
- {
- "code": "HP:0001265",
- "display": "Hyporeflexia"
- },
- {
- "code": "HP:0001284",
- "display": "Areflexia"
- },
- {
- "code": "HP:0003477",
- "display": "Peripheral axonal neuropathy"
- },
- {
- "code": "HP:0000924",
- "display": "Abnormality of the skeletal system"
- },
- {
- "code": "HP:0001291",
- "display": "Abnormal cranial nerve morphology"
- },
- {
- "code": "HP:0003687",
- "display": "Centrally nucleated skeletal muscle fibers"
- },
- {
- "code": "HP:0001324",
- "display": "Muscle weakness"
- },
- {
- "code": "HP:0002515",
- "display": "Waddling gait"
- },
- {
- "code": "HP:0100280",
- "display": "Crohn's disease"
- },
- {
- "code": "HP:0002631",
- "display": "obsolete Dilatation of ascending aorta"
- },
- {
- "code": "HP:0100026",
- "display": "Arteriovenous malformation"
- },
- {
- "code": "HP:0002637",
- "display": "Cerebral ischemia"
- },
- {
- "code": "HP:0002619",
- "display": "Varicose veins"
- },
- {
- "code": "HP:0001159",
- "display": "Syndactyly"
- },
- {
- "code": "HP:0002069",
- "display": "Bilateral tonic-clonic seizure"
- },
- {
- "code": "HP:0000977",
- "display": "Soft skin"
- },
- {
- "code": "HP:0010648",
- "display": "Dermal translucency"
- },
- {
- "code": "HP:0000978",
- "display": "Bruising susceptibility"
- },
- {
- "code": "HP:0001956",
- "display": "Truncal obesity"
- },
- {
- "code": "HP:0000189",
- "display": "Narrow palate"
- },
- {
- "code": "HP:0000678",
- "display": "Dental crowding"
- },
- {
- "code": "HP:0002870",
- "display": "Obstructive sleep apnea"
- },
- {
- "code": "HP:0001763",
- "display": "Pes planus"
- },
- {
- "code": "HP:0000782",
- "display": "Abnormality of the scapula"
- },
- {
- "code": "HP:0001600",
- "display": "Abnormality of the larynx"
- },
- {
- "code": "HP:0002088",
- "display": "Abnormal lung morphology"
- },
- {
- "code": "HP:0011407",
- "display": "Proportionate tall stature"
- },
- {
- "code": "HP:0000541",
- "display": "Retinal detachment"
- },
- {
- "code": "HP:0001373",
- "display": "Joint dislocation"
- },
- {
- "code": "HP:0000938",
- "display": "Osteopenia"
- },
- {
- "code": "HP:0002942",
- "display": "Thoracic kyphosis"
- },
- {
- "code": "HP:0001840",
- "display": "Metatarsus adductus"
- },
- {
- "code": "HP:0001844",
- "display": "Abnormality of the hallux"
- },
- {
- "code": "HP:0001765",
- "display": "Hammertoe"
- },
- {
- "code": "HP:0000606",
- "display": "Abnormality of the periorbital region"
- },
- {
- "code": "HP:0002757",
- "display": "Recurrent fractures"
- },
- {
- "code": "HP:0000647",
- "display": "Sclerocornea"
- },
- {
- "code": "HP:0001166",
- "display": "Arachnodactyly"
- },
- {
- "code": "HP:0005490",
- "display": "Postnatal macrocephaly"
- },
- {
- "code": "HP:0011363",
- "display": "Abnormality of hair growth rate"
- },
- {
- "code": "HP:0000276",
- "display": "Long face"
- },
- {
- "code": "HP:0000275",
- "display": "Narrow face"
- },
- {
- "code": "HP:0000337",
- "display": "Broad forehead"
- },
- {
- "code": "HP:0002267",
- "display": "Exaggerated startle response"
- },
- {
- "code": "HP:0002187",
- "display": "Intellectual disability, profound"
- },
- {
- "code": "HP:0000728",
- "display": "Impaired ability to form peer relationships"
- },
- {
- "code": "HP:0000733",
- "display": "Stereotypy"
- },
- {
- "code": "HP:0000739",
- "display": "Anxiety"
- },
- {
- "code": "HP:0000929",
- "display": "Abnormal skull morphology"
- },
- {
- "code": "HP:0001965",
- "display": "Abnormal scalp morphology"
- },
- {
- "code": "HP:0100538",
- "display": "Abnormality of the supraorbital ridges"
- },
- {
- "code": "HP:0000309",
- "display": "Abnormality of the midface"
- },
- {
- "code": "HP:0000277",
- "display": "Abnormality of the mandible"
- },
- {
- "code": "HP:0000765",
- "display": "Abnormality of the thorax"
- },
- {
- "code": "HP:0100008",
- "display": "Schwannoma"
- },
- {
- "code": "HP:0030038",
- "display": "Enchondroma"
- },
- {
- "code": "HP:0100777",
- "display": "Exostoses"
- },
- {
- "code": "HP:0011663",
- "display": "Right ventricular cardiomyopathy"
- },
- {
- "code": "HP:0011675",
- "display": "Arrhythmia"
- },
- {
- "code": "HP:0001962",
- "display": "Palpitations"
- },
- {
- "code": "HP:0001279",
- "display": "Syncope"
- },
- {
- "code": "HP:0004756",
- "display": "Ventricular tachycardia"
- },
- {
- "code": "HP:0000252",
- "display": "Microcephaly"
- },
- {
- "code": "HP:0000303",
- "display": "Mandibular prognathia"
- },
- {
- "code": "HP:0000664",
- "display": "Synophrys"
- },
- {
- "code": "HP:0001609",
- "display": "Hoarse voice"
- },
- {
- "code": "HP:0002558",
- "display": "Supernumerary nipple"
- },
- {
- "code": "HP:0001634",
- "display": "Mitral valve prolapse"
- },
- {
- "code": "HP:0000028",
- "display": "Cryptorchidism"
- },
- {
- "code": "HP:0000973",
- "display": "Cutis laxa"
- },
- {
- "code": "HP:0001518",
- "display": "Small for gestational age"
- },
- {
- "code": "HP:0000527",
- "display": "Long eyelashes"
- },
- {
- "code": "HP:0002808",
- "display": "Kyphosis"
- },
- {
- "code": "HP:0000248",
- "display": "Brachycephaly"
- },
- {
- "code": "HP:0000505",
- "display": "Visual impairment"
- },
- {
- "code": "HP:0000512",
- "display": "Abnormal electroretinogram"
- },
- {
- "code": "HP:0000517",
- "display": "Abnormality of the lens"
- },
- {
- "code": "HP:0000529",
- "display": "Progressive visual loss"
- },
- {
- "code": "HP:0000586",
- "display": "Shallow orbits"
- },
- {
- "code": "HP:0000603",
- "display": "Central scotoma"
- },
- {
- "code": "HP:0000939",
- "display": "Osteoporosis"
- },
- {
- "code": "HP:0001377",
- "display": "Limited elbow extension"
- },
- {
- "code": "HP:0001387",
- "display": "Joint stiffness"
- },
- {
- "code": "HP:0001822",
- "display": "Hallux valgus"
- },
- {
- "code": "HP:0002657",
- "display": "Spondylometaphyseal dysplasia"
- },
- {
- "code": "HP:0003026",
- "display": "Short long bone"
- },
- {
- "code": "HP:0006462",
- "display": "Generalized bone demineralization"
- },
- {
- "code": "HP:0008873",
- "display": "Disproportionate short-limb short stature"
- },
- {
- "code": "HP:0008905",
- "display": "Rhizomelia"
- },
- {
- "code": "HP:0008922",
- "display": "Childhood-onset short-trunk short stature"
- },
- {
- "code": "HP:0200020",
- "display": "Corneal erosion"
- },
- {
- "code": "HP:0001172",
- "display": "Abnormal thumb morphology"
- },
- {
- "code": "HP:0002286",
- "display": "Fair hair"
- },
- {
- "code": "HP:0010719",
- "display": "Abnormality of hair texture"
- },
- {
- "code": "HP:0010720",
- "display": "Abnormal hair pattern"
- },
- {
- "code": "HP:0001635",
- "display": "Congestive heart failure"
- },
- {
- "code": "HP:0001644",
- "display": "Dilated cardiomyopathy"
- },
- {
- "code": "HP:0001663",
- "display": "Ventricular fibrillation"
- },
- {
- "code": "HP:0011712",
- "display": "Right bundle branch block"
- },
- {
- "code": "HP:0000272",
- "display": "Malar flattening"
- },
- {
- "code": "HP:0000286",
- "display": "Epicanthus"
- },
- {
- "code": "HP:0000322",
- "display": "Short philtrum"
- },
- {
- "code": "HP:0000463",
- "display": "Anteverted nares"
- },
- {
- "code": "HP:0000494",
- "display": "Downslanted palpebral fissures"
- },
- {
- "code": "HP:0000543",
- "display": "Optic disc pallor"
- },
- {
- "code": "HP:0000699",
- "display": "Diastema"
- },
- {
- "code": "HP:0000773",
- "display": "Short ribs"
- },
- {
- "code": "HP:0000887",
- "display": "Cupped ribs"
- },
- {
- "code": "HP:0000946",
- "display": "Hypoplastic ilia"
- },
- {
- "code": "HP:0000954",
- "display": "Single transverse palmar crease"
- },
- {
- "code": "HP:0001182",
- "display": "Tapered finger"
- },
- {
- "code": "HP:0001537",
- "display": "Umbilical hernia"
- },
- {
- "code": "HP:0002007",
- "display": "Frontal bossing"
- },
- {
- "code": "HP:0002980",
- "display": "Femoral bowing"
- },
- {
- "code": "HP:0002982",
- "display": "Tibial bowing"
- },
- {
- "code": "HP:0003021",
- "display": "Metaphyseal cupping"
- },
- {
- "code": "HP:0005011",
- "display": "Mesomelic arm shortening"
- },
- {
- "code": "HP:0008803",
- "display": "obsolete Narrow sacroiliac notch"
- },
- {
- "code": "HP:0009117",
- "display": "Aplasia/Hypoplasia of the maxilla"
- },
- {
- "code": "HP:0011220",
- "display": "Prominent forehead"
- },
- {
- "code": "HP:0012801",
- "display": "Narrow jaw"
- },
- {
- "code": "HP:0000243",
- "display": "Trigonocephaly"
- },
- {
- "code": "HP:0000358",
- "display": "Posteriorly rotated ears"
- },
- {
- "code": "HP:0000411",
- "display": "Protruding ear"
- },
- {
- "code": "HP:0000646",
- "display": "Amblyopia"
- },
- {
- "code": "HP:0002812",
- "display": "Coxa vara"
- },
- {
- "code": "HP:0002970",
- "display": "Genu varum"
- },
- {
- "code": "HP:0012775",
- "display": "Stellate iris"
- },
- {
- "code": "HP:0000278",
- "display": "Retrognathia"
- },
- {
- "code": "HP:0009796",
- "display": "Branchial cyst"
- },
- {
- "code": "HP:0002474",
- "display": "Expressive language delay"
- },
- {
- "code": "HP:0007018",
- "display": "Attention deficit hyperactivity disorder"
- },
- {
- "code": "HP:0003198",
- "display": "Myopathy"
- },
- {
- "code": "HP:0003324",
- "display": "Generalized muscle weakness"
- },
- {
- "code": "HP:0003552",
- "display": "Muscle stiffness"
- },
- {
- "code": "HP:0003554",
- "display": "Type 2 muscle fiber atrophy"
- },
- {
- "code": "HP:0003557",
- "display": "Increased variability in muscle fiber diameter"
- },
- {
- "code": "HP:0009025",
- "display": "Increased connective tissue"
- },
- {
- "code": "HP:0003635",
- "display": "Loss of subcutaneous adipose tissue in limbs"
- },
- {
- "code": "HP:0002597",
- "display": "Abnormality of the vasculature"
- },
- {
- "code": "HP:0001649",
- "display": "Tachycardia"
- },
- {
- "code": "HP:0001638",
- "display": "Cardiomyopathy"
- },
- {
- "code": "HP:0001654",
- "display": "Abnormal heart valve morphology"
- },
- {
- "code": "HP:0001671",
- "display": "Abnormal cardiac septum morphology"
- },
- {
- "code": "HP:0000103",
- "display": "Polyuria"
- },
- {
- "code": "HP:0000114",
- "display": "Proximal tubulopathy"
- },
- {
- "code": "HP:0001878",
- "display": "Hemolytic anemia"
- },
- {
- "code": "HP:0001931",
- "display": "Hypochromic anemia"
- },
- {
- "code": "HP:0001935",
- "display": "Microcytic anemia"
- },
- {
- "code": "HP:0001959",
- "display": "Polydipsia"
- },
- {
- "code": "HP:0001994",
- "display": "Renal Fanconi syndrome"
- },
- {
- "code": "HP:0002134",
- "display": "Abnormality of the basal ganglia"
- },
- {
- "code": "HP:0002188",
- "display": "Delayed CNS myelination"
- },
- {
- "code": "HP:0002908",
- "display": "Conjugated hyperbilirubinemia"
- },
- {
- "code": "HP:0003774",
- "display": "Stage 5 chronic kidney disease"
- },
- {
- "code": "HP:0010700",
- "display": "obsolete Total cataract"
- },
- {
- "code": "HP:0000193",
- "display": "Bifid uvula"
- },
- {
- "code": "HP:0000219",
- "display": "Thin upper lip vermilion"
- },
- {
- "code": "HP:0000426",
- "display": "Prominent nasal bridge"
- },
- {
- "code": "HP:0000452",
- "display": "Choanal stenosis"
- },
- {
- "code": "HP:0000490",
- "display": "Deeply set eye"
- },
- {
- "code": "HP:0000540",
- "display": "Hypermetropia"
- },
- {
- "code": "HP:0000579",
- "display": "Nasolacrimal duct obstruction"
- },
- {
- "code": "HP:0000684",
- "display": "Delayed eruption of teeth"
- },
- {
- "code": "HP:0000960",
- "display": "Sacral dimple"
- },
- {
- "code": "HP:0000998",
- "display": "Hypertrichosis"
- },
- {
- "code": "HP:0001643",
- "display": "Patent ductus arteriosus"
- },
- {
- "code": "HP:0010813",
- "display": "Abnormal number of hair whorls"
- },
- {
- "code": "HP:0012384",
- "display": "Rhinitis"
- },
- {
- "code": "HP:0012745",
- "display": "Short palpebral fissure"
- },
- {
- "code": "HP:0000359",
- "display": "Abnormality of the inner ear"
- },
- {
- "code": "HP:0000429",
- "display": "Abnormality of the nasal alae"
- },
- {
- "code": "HP:0000436",
- "display": "Abnormality of the nasal tip"
- },
- {
- "code": "HP:0000499",
- "display": "Abnormal eyelash morphology"
- },
- {
- "code": "HP:0000534",
- "display": "Abnormal eyebrow morphology"
- },
- {
- "code": "HP:0000951",
- "display": "Abnormality of the skin"
- },
- {
- "code": "HP:0001000",
- "display": "Abnormality of skin pigmentation"
- },
- {
- "code": "HP:0001597",
- "display": "Abnormality of the nail"
- },
- {
- "code": "HP:0006483",
- "display": "Abnormal number of teeth"
- },
- {
- "code": "HP:0009929",
- "display": "Abnormality of the columella"
- },
- {
- "code": "HP:0011119",
- "display": "Abnormality of the nasal dorsum"
- },
- {
- "code": "HP:0012808",
- "display": "Abnormal nasal base"
- },
- {
- "code": "HP:0100490",
- "display": "Camptodactyly of finger"
- },
- {
- "code": "HP:0000964",
- "display": "Eczema"
- },
- {
- "code": "HP:0004442",
- "display": "Sagittal craniosynostosis"
- },
- {
- "code": "HP:0000414",
- "display": "Bulbous nose"
- },
- {
- "code": "HP:0003180",
- "display": "Flat acetabular roof"
- },
- {
- "code": "HP:0000422",
- "display": "Abnormality of the nasal bridge"
- },
- {
- "code": "HP:0000614",
- "display": "Abnormal nasolacrimal system morphology"
- },
- {
- "code": "HP:0001167",
- "display": "Abnormality of finger"
- },
- {
- "code": "HP:0001595",
- "display": "Abnormal hair morphology"
- },
- {
- "code": "HP:0012373",
- "display": "Abnormal eye physiology"
- },
- {
- "code": "HP:0001655",
- "display": "Patent foramen ovale"
- },
- {
- "code": "HP:0001647",
- "display": "Bicuspid aortic valve"
- },
- {
- "code": "HP:0000574",
- "display": "Thick eyebrow"
- },
- {
- "code": "HP:0001169",
- "display": "Broad palm"
- },
- {
- "code": "HP:0006471",
- "display": "Fixed elbow flexion"
- },
- {
- "code": "HP:0008689",
- "display": "Bilateral cryptorchidism"
- },
- {
- "code": "HP:0011304",
- "display": "Broad thumb"
- },
- {
- "code": "HP:0005110",
- "display": "Atrial fibrillation"
- },
- {
- "code": "HP:0001633",
- "display": "Abnormal mitral valve morphology"
- },
- {
- "code": "HP:0001641",
- "display": "Abnormal pulmonary valve morphology"
- },
- {
- "code": "HP:0001702",
- "display": "Abnormal tricuspid valve morphology"
- },
- {
- "code": "HP:0000012",
- "display": "Urinary urgency"
- },
- {
- "code": "HP:0000020",
- "display": "Urinary incontinence"
- },
- {
- "code": "HP:0000131",
- "display": "Uterine leiomyoma"
- },
- {
- "code": "HP:0000132",
- "display": "Menorrhagia"
- },
- {
- "code": "HP:0000138",
- "display": "Ovarian cyst"
- },
- {
- "code": "HP:0000853",
- "display": "Goiter"
- },
- {
- "code": "HP:0000953",
- "display": "Hyperpigmentation of the skin"
- },
- {
- "code": "HP:0001061",
- "display": "Acne"
- },
- {
- "code": "HP:0002315",
- "display": "Headache"
- },
- {
- "code": "HP:0004324",
- "display": "Increased body weight"
- },
- {
- "code": "HP:0000069",
- "display": "Abnormality of the ureter"
- },
- {
- "code": "HP:0000077",
- "display": "Abnormality of the kidney"
- },
- {
- "code": "HP:0000759",
- "display": "Abnormal peripheral nervous system morphology"
- },
- {
- "code": "HP:0008069",
- "display": "Neoplasm of the skin"
- },
- {
- "code": "HP:0011276",
- "display": "Vascular skin abnormality"
- },
- {
- "code": "HP:0000705",
- "display": "Amelogenesis imperfecta"
- },
- {
- "code": "HP:0001256",
- "display": "Intellectual disability, mild"
- },
- {
- "code": "HP:0000325",
- "display": "Triangular face"
- },
- {
- "code": "HP:0000160",
- "display": "Narrow mouth"
- },
- {
- "code": "HP:0009487",
- "display": "Ulnar deviation of the hand"
- },
- {
- "code": "HP:0001249",
- "display": "Intellectual disability"
- },
- {
- "code": "HP:0008064",
- "display": "Ichthyosis"
- },
- {
- "code": "HP:0000311",
- "display": "Round face"
- },
- {
- "code": "HP:0001653",
- "display": "Mitral regurgitation"
- },
- {
- "code": "HP:0001771",
- "display": "Achilles tendon contracture"
- },
- {
- "code": "HP:0012032",
- "display": "Lipoma"
- },
- {
- "code": "HP:0012368",
- "display": "Flat face"
- },
- {
- "code": "HP:0030053",
- "display": "Stiff skin"
- },
- {
- "code": "HP:0011124",
- "display": "Abnormality of epidermal morphology"
- },
- {
- "code": "HP:0011097",
- "display": "Epileptic spasm"
- },
- {
- "code": "HP:0000407",
- "display": "Sensorineural hearing impairment"
- },
- {
- "code": "HP:0000331",
- "display": "Short chin"
- },
- {
- "code": "HP:0000340",
- "display": "Sloping forehead"
- },
- {
- "code": "HP:0000486",
- "display": "Strabismus"
- },
- {
- "code": "HP:0000713",
- "display": "Agitation"
- },
- {
- "code": "HP:0000802",
- "display": "Impotence"
- },
- {
- "code": "HP:0001272",
- "display": "Cerebellar atrophy"
- },
- {
- "code": "HP:0001276",
- "display": "Hypertonia"
- },
- {
- "code": "HP:0001321",
- "display": "Cerebellar hypoplasia"
- },
- {
- "code": "HP:0001322",
- "display": "obsolete Brain very small"
- },
- {
- "code": "HP:0002061",
- "display": "Lower limb spasticity"
- },
- {
- "code": "HP:0002529",
- "display": "Neuronal loss in central nervous system"
- },
- {
- "code": "HP:0002540",
- "display": "Inability to walk"
- },
- {
- "code": "HP:0005484",
- "display": "Postnatal microcephaly"
- },
- {
- "code": "HP:0012850",
- "display": "Small intestinal dysmotility"
- },
- {
- "code": "HP:0000504",
- "display": "Abnormality of vision"
- },
- {
- "code": "HP:0002118",
- "display": "Abnormality of the cerebral ventricles"
- },
- {
- "code": "HP:0002363",
- "display": "Abnormality of brainstem morphology"
- },
- {
- "code": "HP:0010651",
- "display": "Abnormal meningeal morphology"
- },
- {
- "code": "HP:0100024",
- "display": "Conspicuously happy disposition"
- },
- {
- "code": "HP:0002538",
- "display": "Abnormality of the cerebral cortex"
- },
- {
- "code": "HP:0000054",
- "display": "Micropenis"
- },
- {
- "code": "HP:0000215",
- "display": "Thick upper lip vermilion"
- },
- {
- "code": "HP:0000293",
- "display": "Full cheeks"
- },
- {
- "code": "HP:0000349",
- "display": "Widow's peak"
- },
- {
- "code": "HP:0000444",
- "display": "Convex nasal ridge"
- },
- {
- "code": "HP:0000506",
- "display": "Telecanthus"
- },
- {
- "code": "HP:0000592",
- "display": "Blue sclerae"
- },
- {
- "code": "HP:0000691",
- "display": "Microdontia"
- },
- {
- "code": "HP:0000698",
- "display": "Conical tooth"
- },
- {
- "code": "HP:0002000",
- "display": "Short columella"
- },
- {
- "code": "HP:0002097",
- "display": "Emphysema"
- },
- {
- "code": "HP:0002209",
- "display": "Sparse scalp hair"
- },
- {
- "code": "HP:0002816",
- "display": "Genu recurvatum"
- },
- {
- "code": "HP:0005116",
- "display": "Arterial tortuosity"
- },
- {
- "code": "HP:0007957",
- "display": "Corneal opacity"
- },
- {
- "code": "HP:0008070",
- "display": "Sparse hair"
- },
- {
- "code": "HP:0009623",
- "display": "Proximal placement of thumb"
- },
- {
- "code": "HP:0010055",
- "display": "Broad hallux"
- },
- {
- "code": "HP:0011318",
- "display": "Bicoronal synostosis"
- },
- {
- "code": "HP:0011968",
- "display": "Feeding difficulties"
- },
- {
- "code": "HP:0200067",
- "display": "Recurrent spontaneous abortion"
- },
- {
- "code": "HP:0011819",
- "display": "Submucous cleft soft palate"
- },
- {
- "code": "HP:0000268",
- "display": "Dolichocephaly"
- },
- {
- "code": "HP:0003302",
- "display": "Spondylolisthesis"
- },
- {
- "code": "HP:0000582",
- "display": "Upslanted palpebral fissure"
- },
- {
- "code": "HP:0000952",
- "display": "Jaundice"
- },
- {
- "code": "HP:0001298",
- "display": "Encephalopathy"
- },
- {
- "code": "HP:0001396",
- "display": "Cholestasis"
- },
- {
- "code": "HP:0002059",
- "display": "Cerebral atrophy"
- },
- {
- "code": "HP:0002171",
- "display": "Gliosis"
- },
- {
- "code": "HP:0002240",
- "display": "Hepatomegaly"
- },
- {
- "code": "HP:0002353",
- "display": "EEG abnormality"
- },
- {
- "code": "HP:0002446",
- "display": "Astrocytosis"
- },
- {
- "code": "HP:0003287",
- "display": "Abnormality of mitochondrial metabolism"
- },
- {
- "code": "HP:0011449",
- "display": "Knee clonus"
- },
- {
- "code": "HP:0012852",
- "display": "Hepatic bridging fibrosis"
- },
- {
- "code": "HP:0100626",
- "display": "Chronic hepatic failure"
- },
- {
- "code": "HP:0000385",
- "display": "Small earlobe"
- },
- {
- "code": "HP:0009748",
- "display": "Large earlobe"
- },
- {
- "code": "HP:0000157",
- "display": "Abnormality of the tongue"
- },
- {
- "code": "HP:0000172",
- "display": "Abnormality of the uvula"
- },
- {
- "code": "HP:0000174",
- "display": "Abnormal palate morphology"
- },
- {
- "code": "HP:0000306",
- "display": "Abnormality of the chin"
- },
- {
- "code": "HP:0004408",
- "display": "Abnormality of the sense of smell"
- },
- {
- "code": "HP:0009912",
- "display": "Abnormality of the tragus"
- },
- {
- "code": "HP:0000537",
- "display": "Epicanthus inversus"
- },
- {
- "code": "HP:0000565",
- "display": "Esotropia"
- },
- {
- "code": "HP:0000752",
- "display": "Hyperactivity"
- },
- {
- "code": "HP:0003186",
- "display": "Inverted nipples"
- },
- {
- "code": "HP:0012503",
- "display": "Abnormality of the pituitary gland"
- },
- {
- "code": "HP:0100710",
- "display": "Impulsivity"
- },
- {
- "code": "HP:0000357",
- "display": "Abnormal location of ears"
- },
- {
- "code": "HP:0000820",
- "display": "Abnormality of the thyroid gland"
- },
- {
- "code": "HP:0000828",
- "display": "Abnormality of the parathyroid gland"
- },
- {
- "code": "HP:0000834",
- "display": "Abnormality of the adrenal glands"
- },
- {
- "code": "HP:0012093",
- "display": "Abnormality of endocrine pancreas physiology"
- },
- {
- "code": "HP:0000269",
- "display": "Prominent occiput"
- },
- {
- "code": "HP:0000535",
- "display": "Sparse and thin eyebrow"
- },
- {
- "code": "HP:0000639",
- "display": "Nystagmus"
- },
- {
- "code": "HP:0000718",
- "display": "Aggressive behavior"
- },
- {
- "code": "HP:0000957",
- "display": "Cafe-au-lait spot"
- },
- {
- "code": "HP:0000256",
- "display": "Macrocephaly"
- },
- {
- "code": "HP:0000750",
- "display": "Delayed speech and language development"
- },
- {
- "code": "HP:0000963",
- "display": "Thin skin"
- },
- {
- "code": "HP:0001260",
- "display": "Dysarthria"
- },
- {
- "code": "HP:0002194",
- "display": "Delayed gross motor development"
- },
- {
- "code": "HP:0003196",
- "display": "Short nose"
- },
- {
- "code": "HP:0001155",
- "display": "Abnormality of the hand"
- },
- {
- "code": "HP:0100022",
- "display": "Abnormality of movement"
- },
- {
- "code": "HP:0010862",
- "display": "Delayed fine motor development"
- },
- {
- "code": "HP:0000343",
- "display": "Long philtrum"
- },
- {
- "code": "HP:0000717",
- "display": "Autism"
- },
- {
- "code": "HP:0001883",
- "display": "Talipes"
- },
- {
- "code": "HP:0002553",
- "display": "Highly arched eyebrow"
- },
- {
- "code": "HP:0007488",
- "display": "Diffuse skin atrophy"
- },
- {
- "code": "HP:0000822",
- "display": "Hypertension"
- },
- {
- "code": "HP:0001278",
- "display": "Orthostatic hypotension"
- },
- {
- "code": "HP:0001944",
- "display": "Dehydration"
- },
- {
- "code": "HP:0001945",
- "display": "Fever"
- },
- {
- "code": "HP:0002019",
- "display": "Constipation"
- },
- {
- "code": "HP:0002020",
- "display": "Gastroesophageal reflux"
- },
- {
- "code": "HP:0002027",
- "display": "Abdominal pain"
- },
- {
- "code": "HP:0002718",
- "display": "Recurrent bacterial infections"
- },
- {
- "code": "HP:0002841",
- "display": "Recurrent fungal infections"
- },
- {
- "code": "HP:0004395",
- "display": "Malnutrition"
- },
- {
- "code": "HP:0009830",
- "display": "Peripheral neuropathy"
- },
- {
- "code": "HP:0000126",
- "display": "Hydronephrosis"
- },
- {
- "code": "HP:0000519",
- "display": "Developmental cataract"
- },
- {
- "code": "HP:0000648",
- "display": "Optic atrophy"
- },
- {
- "code": "HP:0001053",
- "display": "Hypopigmented skin patches"
- },
- {
- "code": "HP:0001087",
- "display": "Developmental glaucoma"
- },
- {
- "code": "HP:0002119",
- "display": "Ventriculomegaly"
- },
- {
- "code": "HP:0002280",
- "display": "Enlarged cisterna magna"
- },
- {
- "code": "HP:0003298",
- "display": "Spina bifida occulta"
- },
- {
- "code": "HP:0004467",
- "display": "Preauricular pit"
- },
- {
- "code": "HP:0008511",
- "display": "Central posterior corneal opacity"
- },
- {
- "code": "HP:0010780",
- "display": "Hyperacusis"
- },
- {
- "code": "HP:0030048",
- "display": "Colpocephaly"
- },
- {
- "code": "HP:0100335",
- "display": "Non-midline cleft lip"
- },
- {
- "code": "HP:0000525",
- "display": "Abnormality iris morphology"
- },
- {
- "code": "HP:0002719",
- "display": "Recurrent infections"
- },
- {
- "code": "HP:0000153",
- "display": "Abnormality of the mouth"
- },
- {
- "code": "HP:0001903",
- "display": "Anemia"
- },
- {
- "code": "HP:0002094",
- "display": "Dyspnea"
- },
- {
- "code": "HP:0002206",
- "display": "Pulmonary fibrosis"
- },
- {
- "code": "HP:0002789",
- "display": "Tachypnea"
- },
- {
- "code": "HP:0002793",
- "display": "Abnormal pattern of respiration"
- },
- {
- "code": "HP:0003565",
- "display": "Elevated erythrocyte sedimentation rate"
- },
- {
- "code": "HP:0006517",
- "display": "Intraalveolar phospholipid accumulation"
- },
- {
- "code": "HP:0006530",
- "display": "Interstitial pulmonary abnormality"
- },
- {
- "code": "HP:0100759",
- "display": "Clubbing of fingers"
- },
- {
- "code": "HP:0002103",
- "display": "Abnormal pleura morphology"
- },
- {
- "code": "HP:0001596",
- "display": "Alopecia"
- },
- {
- "code": "HP:0001882",
- "display": "Leukopenia"
- },
- {
- "code": "HP:0002013",
- "display": "Vomiting"
- },
- {
- "code": "HP:0002028",
- "display": "Chronic diarrhea"
- },
- {
- "code": "HP:0002573",
- "display": "Hematochezia"
- },
- {
- "code": "HP:0002960",
- "display": "Autoimmunity"
- },
- {
- "code": "HP:0005387",
- "display": "Combined immunodeficiency"
- },
- {
- "code": "HP:0011109",
- "display": "Chronic sinusitis"
- },
- {
- "code": "HP:0004429",
- "display": "Recurrent viral infections"
- },
- {
- "code": "HP:0000280",
- "display": "Coarse facial features"
- },
- {
- "code": "HP:0000294",
- "display": "Low anterior hairline"
- },
- {
- "code": "HP:0000577",
- "display": "Exotropia"
- },
- {
- "code": "HP:0001873",
- "display": "Thrombocytopenia"
- },
- {
- "code": "HP:0002011",
- "display": "Morphological central nervous system abnormality"
- },
- {
- "code": "HP:0006610",
- "display": "Wide intermamillary distance"
- },
- {
- "code": "HP:0011231",
- "display": "Prominent eyelashes"
- },
- {
- "code": "HP:0012718",
- "display": "Morphological abnormality of the gastrointestinal tract"
- },
- {
- "code": "HP:0002024",
- "display": "Malabsorption"
- },
- {
- "code": "HP:0001394",
- "display": "Cirrhosis"
- },
- {
- "code": "HP:0001414",
- "display": "Microvesicular hepatic steatosis"
- },
- {
- "code": "HP:0001403",
- "display": "Macrovesicular hepatic steatosis"
- },
- {
- "code": "HP:0001410",
- "display": "Decreased liver function"
- },
- {
- "code": "HP:0001409",
- "display": "Portal hypertension"
- },
- {
- "code": "HP:0001744",
- "display": "Splenomegaly"
- },
- {
- "code": "HP:0003394",
- "display": "Muscle spasm"
- },
- {
- "code": "HP:0003750",
- "display": "Increased muscle fatiguability"
- },
- {
- "code": "HP:0002123",
- "display": "Generalized myoclonic seizure"
- },
- {
- "code": "HP:0002219",
- "display": "Facial hypertrichosis"
- },
- {
- "code": "HP:0000831",
- "display": "Insulin-resistant diabetes mellitus"
- },
- {
- "code": "HP:0001891",
- "display": "Iron deficiency anemia"
- },
- {
- "code": "HP:0001264",
- "display": "Spastic diplegia"
- },
- {
- "code": "HP:0002313",
- "display": "Spastic paraparesis"
- },
- {
- "code": "HP:0001347",
- "display": "Hyperreflexia"
- },
- {
- "code": "HP:0002460",
- "display": "Distal muscle weakness"
- },
- {
- "code": "HP:0000763",
- "display": "Sensory neuropathy"
- },
- {
- "code": "HP:0001268",
- "display": "Mental deterioration"
- },
- {
- "code": "HP:0002169",
- "display": "Clonus"
- },
- {
- "code": "HP:0001332",
- "display": "Dystonia"
- },
- {
- "code": "HP:0100716",
- "display": "Self-injurious behavior"
- },
- {
- "code": "HP:0000602",
- "display": "Ophthalmoplegia"
- },
- {
- "code": "HP:0001251",
- "display": "Ataxia"
- },
- {
- "code": "HP:0000776",
- "display": "Congenital diaphragmatic hernia"
- },
- {
- "code": "HP:0000410",
- "display": "Mixed hearing impairment"
- },
- {
- "code": "HP:0000510",
- "display": "Rod-cone dystrophy"
- },
- {
- "code": "HP:0004437",
- "display": "Cranial hyperostosis"
- },
- {
- "code": "HP:0011001",
- "display": "Increased bone mineral density"
- },
- {
- "code": "HP:0000956",
- "display": "Acanthosis nigricans"
- },
- {
- "code": "HP:0000958",
- "display": "Dry skin"
- },
- {
- "code": "HP:0000580",
- "display": "Pigmentary retinopathy"
- },
- {
- "code": "HP:0000649",
- "display": "Abnormality of visual evoked potentials"
- },
- {
- "code": "HP:0000657",
- "display": "Oculomotor apraxia"
- },
- {
- "code": "HP:0000479",
- "display": "Abnormal retinal morphology"
- },
- {
- "code": "HP:0001317",
- "display": "Abnormal cerebellum morphology"
- },
- {
- "code": "HP:0001533",
- "display": "Slender build"
- },
- {
- "code": "HP:0001629",
- "display": "Ventricular septal defect"
- },
- {
- "code": "HP:0000703",
- "display": "Dentinogenesis imperfecta"
- },
- {
- "code": "HP:0000914",
- "display": "Shield chest"
- },
- {
- "code": "HP:0001500",
- "display": "Broad finger"
- },
- {
- "code": "HP:0003086",
- "display": "Acromesomelia"
- },
- {
- "code": "HP:0003416",
- "display": "Spinal canal stenosis"
- },
- {
- "code": "HP:0002815",
- "display": "Abnormality of the knee"
- },
- {
- "code": "HP:0002992",
- "display": "Abnormality of tibia morphology"
- },
- {
- "code": "HP:0001639",
- "display": "Hypertrophic cardiomyopathy"
- },
- {
- "code": "HP:0003236",
- "display": "Elevated serum creatine kinase"
- },
- {
- "code": "HP:0001369",
- "display": "Arthritis"
- },
- {
- "code": "HP:0003560",
- "display": "Muscular dystrophy"
- },
- {
- "code": "HP:0003974",
- "display": "Absent radius"
- },
- {
- "code": "HP:0002818",
- "display": "Abnormality of the radius"
- },
- {
- "code": "HP:0001561",
- "display": "Polyhydramnios"
- },
- {
- "code": "HP:0002299",
- "display": "Brittle hair"
- },
- {
- "code": "HP:0002208",
- "display": "Coarse hair"
- },
- {
- "code": "HP:0002213",
- "display": "Fine hair"
- },
- {
- "code": "HP:0000522",
- "display": "Alacrima"
- },
- {
- "code": "HP:0100704",
- "display": "Cerebral visual impairment"
- },
- {
- "code": "HP:0012713",
- "display": "Moderate hearing impairment"
- },
- {
- "code": "HP:0002307",
- "display": "Drooling"
- },
- {
- "code": "HP:0002714",
- "display": "Downturned corners of mouth"
- },
- {
- "code": "HP:0000191",
- "display": "Accessory oral frenulum"
- },
- {
- "code": "HP:0000158",
- "display": "Macroglossia"
- },
- {
- "code": "HP:0012020",
- "display": "Right aortic arch"
- },
- {
- "code": "HP:0002104",
- "display": "Apnea"
- },
- {
- "code": "HP:0000598",
- "display": "Abnormality of the ear"
- },
- {
- "code": "HP:0007874",
- "display": "Almond-shaped palpebral fissure"
- },
- {
- "code": "HP:0010804",
- "display": "Tented upper lip vermilion"
- },
- {
- "code": "HP:0000885",
- "display": "Broad ribs"
- },
- {
- "code": "HP:0000768",
- "display": "Pectus carinatum"
- },
- {
- "code": "HP:0001680",
- "display": "Coarctation of aorta"
- },
- {
- "code": "HP:0000687",
- "display": "Widely spaced teeth"
- },
- {
- "code": "HP:0000047",
- "display": "Hypospadias"
- },
- {
- "code": "HP:0001943",
- "display": "Hypoglycemia"
- },
- {
- "code": "HP:0012369",
- "display": "Abnormality of malar bones"
- },
- {
- "code": "HP:0009900",
- "display": "Unilateral deafness"
- },
- {
- "code": "HP:0000023",
- "display": "Inguinal hernia"
- },
- {
- "code": "HP:0000074",
- "display": "Ureteropelvic junction obstruction"
- },
- {
- "code": "HP:0001800",
- "display": "Hypoplastic toenails"
- },
- {
- "code": "HP:0001804",
- "display": "Hypoplastic fingernail"
- },
- {
- "code": "HP:0002949",
- "display": "Fused cervical vertebrae"
- },
- {
- "code": "HP:0008050",
- "display": "Abnormality of the palpebral fissures"
- },
- {
- "code": "HP:0008577",
- "display": "Underfolded helix"
- },
- {
- "code": "HP:0008589",
- "display": "Hypoplastic helices"
- },
- {
- "code": "HP:0010863",
- "display": "Receptive language delay"
- },
- {
- "code": "HP:0002282",
- "display": "Gray matter heterotopia"
- },
- {
- "code": "HP:0002085",
- "display": "Occipital encephalocele"
- },
- {
- "code": "HP:0001057",
- "display": "Aplasia cutis congenita"
- },
- {
- "code": "HP:0000211",
- "display": "Trismus"
- },
- {
- "code": "HP:0008422",
- "display": "Vertebral wedging"
- },
- {
- "code": "HP:0003170",
- "display": "Abnormality of the acetabulum"
- },
- {
- "code": "HP:0003272",
- "display": "Abnormality of the hip bone"
- },
- {
- "code": "HP:0003028",
- "display": "Abnormality of the ankles"
- },
- {
- "code": "HP:0003301",
- "display": "Irregular vertebral endplates"
- },
- {
- "code": "HP:0010508",
- "display": "Metatarsus valgus"
- },
- {
- "code": "HP:0009811",
- "display": "Abnormality of the elbow"
- },
- {
- "code": "HP:0000736",
- "display": "Short attention span"
- },
- {
- "code": "HP:0002912",
- "display": "Methylmalonic acidemia"
- },
- {
- "code": "HP:0001941",
- "display": "Acidosis"
- },
- {
- "code": "HP:0001992",
- "display": "Organic aciduria"
- },
- {
- "code": "HP:0009027",
- "display": "Foot dorsiflexor weakness"
- },
- {
- "code": "HP:0002063",
- "display": "Rigidity"
- },
- {
- "code": "HP:0000384",
- "display": "Preauricular skin tag"
- },
- {
- "code": "HP:0200046",
- "display": "Cat cry"
- },
- {
- "code": "HP:0001357",
- "display": "Plagiocephaly"
- },
- {
- "code": "HP:0000670",
- "display": "Carious teeth"
- },
- {
- "code": "HP:0011090",
- "display": "Fused teeth"
- },
- {
- "code": "HP:0012810",
- "display": "Wide nasal base"
- },
- {
- "code": "HP:0010296",
- "display": "Ankyloglossia"
- },
- {
- "code": "HP:0001636",
- "display": "Tetralogy of Fallot"
- },
- {
- "code": "HP:0001305",
- "display": "Dandy-Walker malformation"
- },
- {
- "code": "HP:0000238",
- "display": "Hydrocephalus"
- },
- {
- "code": "HP:0005469",
- "display": "Flat occiput"
- },
- {
- "code": "HP:0000270",
- "display": "Delayed cranial suture closure"
- },
- {
- "code": "HP:0000239",
- "display": "Large fontanelles"
- },
- {
- "code": "HP:0010537",
- "display": "Wide cranial sutures"
- },
- {
- "code": "HP:0002217",
- "display": "Slow-growing hair"
- },
- {
- "code": "HP:0000587",
- "display": "Abnormality of the optic nerve"
- },
- {
- "code": "HP:0005989",
- "display": "Redundant neck skin"
- },
- {
- "code": "HP:0010775",
- "display": "Vascular ring"
- },
- {
- "code": "HP:0002779",
- "display": "Tracheomalacia"
- },
- {
- "code": "HP:0002827",
- "display": "Hip dislocation"
- },
- {
- "code": "HP:0001302",
- "display": "Pachygyria"
- },
- {
- "code": "HP:0007362",
- "display": "Aplasia/Hypoplasia of the brainstem"
- },
- {
- "code": "HP:0001558",
- "display": "Decreased fetal movement"
- },
- {
- "code": "HP:0010878",
- "display": "Fetal cystic hygroma"
- },
- {
- "code": "HP:0011398",
- "display": "Central hypotonia"
- },
- {
- "code": "HP:0002071",
- "display": "Abnormality of extrapyramidal motor function"
- },
- {
- "code": "HP:0000826",
- "display": "Precocious puberty"
- },
- {
- "code": "HP:0000014",
- "display": "Abnormality of the bladder"
- },
- {
- "code": "HP:0005037",
- "display": "Proximal radio-ulnar synostosis"
- },
- {
- "code": "HP:0100543",
- "display": "Cognitive impairment"
- },
- {
- "code": "HP:0000481",
- "display": "Abnormal cornea morphology"
- },
- {
- "code": "HP:0000076",
- "display": "Vesicoureteral reflux"
- },
- {
- "code": "HP:0000297",
- "display": "Facial hypotonia"
- },
- {
- "code": "HP:0000391",
- "display": "Thickened helices"
- },
- {
- "code": "HP:0001162",
- "display": "Postaxial hand polydactyly"
- },
- {
- "code": "HP:0001385",
- "display": "Hip dysplasia"
- },
- {
- "code": "HP:0002342",
- "display": "Intellectual disability, moderate"
- },
- {
- "code": "HP:0003191",
- "display": "Cleft ala nasi"
- },
- {
- "code": "HP:0009765",
- "display": "Low hanging columella"
- },
- {
- "code": "HP:0010297",
- "display": "Bifid tongue"
- },
- {
- "code": "HP:0011330",
- "display": "Metopic synostosis"
- },
- {
- "code": "HP:0012804",
- "display": "Corneal ulceration"
- },
- {
- "code": "HP:0010485",
- "display": "Hyperextensibility at elbow"
- },
- {
- "code": "HP:0000609",
- "display": "Optic nerve hypoplasia"
- },
- {
- "code": "HP:0001176",
- "display": "Large hands"
- },
- {
- "code": "HP:0004233",
- "display": "Advanced ossification of carpal bones"
- },
- {
- "code": "HP:0100842",
- "display": "Septo-optic dysplasia"
- },
- {
- "code": "HP:0002034",
- "display": "Abnormality of the rectum"
- },
- {
- "code": "HP:0002283",
- "display": "Global brain atrophy"
- },
- {
- "code": "HP:0003115",
- "display": "Abnormal EKG"
- },
- {
- "code": "HP:0002577",
- "display": "Abnormal stomach morphology"
- },
- {
- "code": "HP:0002539",
- "display": "Cortical dysplasia"
- },
- {
- "code": "HP:0006818",
- "display": "4-layered lissencephaly"
- },
- {
- "code": "HP:0000593",
- "display": "Abnormal anterior chamber morphology"
- },
- {
- "code": "HP:0000179",
- "display": "Thick lower lip vermilion"
- },
- {
- "code": "HP:0002002",
- "display": "Deep philtrum"
- },
- {
- "code": "HP:0009931",
- "display": "Enlarged naris"
- },
- {
- "code": "HP:0002948",
- "display": "Vertebral fusion"
- },
- {
- "code": "HP:0002937",
- "display": "Hemivertebrae"
- },
- {
- "code": "HP:0002308",
- "display": "Arnold-Chiari malformation"
- },
- {
- "code": "HP:0011320",
- "display": "Unilambdoid synostosis"
- },
- {
- "code": "HP:0002781",
- "display": "Upper airway obstruction"
- },
- {
- "code": "HP:0001363",
- "display": "Craniosynostosis"
- },
- {
- "code": "HP:0000204",
- "display": "Cleft upper lip"
- },
- {
- "code": "HP:0001738",
- "display": "Exocrine pancreatic insufficiency"
- },
- {
- "code": "HP:0002823",
- "display": "Abnormality of femur morphology"
- },
- {
- "code": "HP:0000823",
- "display": "Delayed puberty"
- },
- {
- "code": "HP:0100279",
- "display": "Ulcerative colitis"
- },
- {
- "code": "HP:0003834",
- "display": "Shoulder dislocation"
- },
- {
- "code": "HP:0001065",
- "display": "Striae distensae"
- },
- {
- "code": "HP:0000448",
- "display": "Prominent nose"
- },
- {
- "code": "HP:0000554",
- "display": "Uveitis"
- },
- {
- "code": "HP:0001006",
- "display": "obsolete Hypotrichosis"
- },
- {
- "code": "HP:0000501",
- "display": "Glaucoma"
- },
- {
- "code": "HP:0000262",
- "display": "Turricephaly"
- },
- {
- "code": "HP:0000729",
- "display": "Autistic behavior"
- },
- {
- "code": "HP:0010800",
- "display": "Absent cupid's bow"
- },
- {
- "code": "HP:0010808",
- "display": "Protruding tongue"
- },
- {
- "code": "HP:0009927",
- "display": "Aplasia of the nose"
- },
- {
- "code": "HP:0100539",
- "display": "Periorbital edema"
- },
- {
- "code": "HP:0000629",
- "display": "Periorbital fullness"
- },
- {
- "code": "HP:0000178",
- "display": "Abnormality of lower lip"
- },
- {
- "code": "HP:0000168",
- "display": "Abnormality of the gingiva"
- },
- {
- "code": "HP:0001022",
- "display": "Albinism"
- },
- {
- "code": "HP:0000177",
- "display": "Abnormality of upper lip"
- },
- {
- "code": "HP:0001337",
- "display": "Tremor"
- },
- {
- "code": "HP:0002135",
- "display": "Basal ganglia calcification"
- },
- {
- "code": "HP:0002352",
- "display": "Leukoencephalopathy"
- },
- {
- "code": "HP:0002514",
- "display": "Cerebral calcification"
- },
- {
- "code": "HP:0010576",
- "display": "Intracranial cystic lesion"
- },
- {
- "code": "HP:0001622",
- "display": "Premature birth"
- },
- {
- "code": "HP:0002415",
- "display": "Leukodystrophy"
- },
- {
- "code": "HP:0001320",
- "display": "Cerebellar vermis hypoplasia"
- },
- {
- "code": "HP:0001773",
- "display": "Short foot"
- },
- {
- "code": "HP:0002750",
- "display": "Delayed skeletal maturation"
- },
- {
- "code": "HP:0004415",
- "display": "Pulmonary artery stenosis"
- },
- {
- "code": "HP:0012741",
- "display": "Unilateral cryptorchidism"
- },
- {
- "code": "HP:0000036",
- "display": "Abnormality of the penis"
- },
- {
- "code": "HP:0002408",
- "display": "Cerebral arteriovenous malformation"
- },
- {
- "code": "HP:0007457",
- "display": "Prominent veins on trunk"
- },
- {
- "code": "HP:0000378",
- "display": "Cupped ear"
- },
- {
- "code": "HP:0000396",
- "display": "Overfolded helix"
- },
- {
- "code": "HP:0000035",
- "display": "Abnormal testis morphology"
- },
- {
- "code": "HP:0009895",
- "display": "Abnormality of the crus of the helix"
- },
- {
- "code": "HP:0000034",
- "display": "Hydrocele testis"
- },
- {
- "code": "HP:0000722",
- "display": "Obsessive-compulsive behavior"
- },
- {
- "code": "HP:0000845",
- "display": "Growth hormone excess"
- },
- {
- "code": "HP:0100829",
- "display": "Galactorrhea"
- },
- {
- "code": "HP:0001578",
- "display": "Increased circulating cortisol level"
- },
- {
- "code": "HP:0000786",
- "display": "Primary amenorrhea"
- },
- {
- "code": "HP:0001701",
- "display": "Pericarditis"
- },
- {
- "code": "HP:0002076",
- "display": "Migraine"
- },
- {
- "code": "HP:0004755",
- "display": "Supraventricular tachycardia"
- },
- {
- "code": "HP:0010522",
- "display": "Dyslexia"
- },
- {
- "code": "HP:0004313",
- "display": "Decreased circulating antibody level"
- },
- {
- "code": "HP:0000011",
- "display": "Neurogenic bladder"
- },
- {
- "code": "HP:0000641",
- "display": "Dysmetric saccades"
- },
- {
- "code": "HP:0007772",
- "display": "Impaired smooth pursuit"
- },
- {
- "code": "HP:0001583",
- "display": "Rotary nystagmus"
- },
- {
- "code": "HP:0010544",
- "display": "Vertical nystagmus"
- },
- {
- "code": "HP:0012735",
- "display": "Cough"
- },
- {
- "code": "HP:0002075",
- "display": "Dysdiadochokinesis"
- },
- {
- "code": "HP:0007256",
- "display": "Abnormal pyramidal sign"
- },
- {
- "code": "HP:0001257",
- "display": "Spasticity"
- },
- {
- "code": "HP:0002321",
- "display": "Vertigo"
- },
- {
- "code": "HP:0002384",
- "display": "Focal impaired awareness seizure"
- },
- {
- "code": "HP:0011376",
- "display": "Morphological abnormality of the vestibule of the inner ear"
- },
- {
- "code": "HP:0002326",
- "display": "Transient ischemic attack"
- },
- {
- "code": "HP:0005584",
- "display": "Renal cell carcinoma"
- },
- {
- "code": "HP:0003124",
- "display": "Hypercholesterolemia"
- },
- {
- "code": "HP:0003002",
- "display": "Breast carcinoma"
- },
- {
- "code": "HP:0004953",
- "display": "obsolete Dilatation of abdominal aorta"
- },
- {
- "code": "HP:0004944",
- "display": "Dilatation of the cerebral artery"
- },
- {
- "code": "HP:0000100",
- "display": "Nephrotic syndrome"
- },
- {
- "code": "HP:0002783",
- "display": "Recurrent lower respiratory tract infections"
- },
- {
- "code": "HP:0003470",
- "display": "Paralysis"
- },
- {
- "code": "HP:0006597",
- "display": "Diaphragmatic paralysis"
- },
- {
- "code": "HP:0008151",
- "display": "Prolonged prothrombin time"
- },
- {
- "code": "HP:0010628",
- "display": "Facial palsy"
- },
- {
- "code": "HP:0011892",
- "display": "Low levels of vitamin K"
- },
- {
- "code": "HP:0001075",
- "display": "Atrophic scars"
- },
- {
- "code": "HP:0001816",
- "display": "Thin nail"
- },
- {
- "code": "HP:0002216",
- "display": "Premature graying of hair"
- },
- {
- "code": "HP:0003401",
- "display": "Paresthesia"
- },
- {
- "code": "HP:0100134",
- "display": "Abnormality of the axillary hair"
- },
- {
- "code": "HP:0100797",
- "display": "Toenail dysplasia"
- },
- {
- "code": "HP:0010461",
- "display": "Abnormality of the male genitalia"
- },
- {
- "code": "HP:0000044",
- "display": "Hypogonadotropic hypogonadism"
- },
- {
- "code": "HP:0100568",
- "display": "Neoplasm of the endocrine system"
- },
- {
- "code": "HP:0001646",
- "display": "Abnormal aortic valve morphology"
- },
- {
- "code": "HP:0000813",
- "display": "Bicornuate uterus"
- },
- {
- "code": "HP:0004380",
- "display": "Aortic valve calcification"
- },
- {
- "code": "HP:0001650",
- "display": "Aortic valve stenosis"
- },
- {
- "code": "HP:0000073",
- "display": "Ureteral duplication"
- },
- {
- "code": "HP:0100651",
- "display": "Type I diabetes mellitus"
- },
- {
- "code": "HP:0000819",
- "display": "Diabetes mellitus"
- },
- {
- "code": "HP:0000573",
- "display": "Retinal hemorrhage"
- },
- {
- "code": "HP:0005264",
- "display": "Abnormality of the gallbladder"
- },
- {
- "code": "HP:0000475",
- "display": "Broad neck"
- },
- {
- "code": "HP:0000089",
- "display": "Renal hypoplasia"
- },
- {
- "code": "HP:0000921",
- "display": "Missing ribs"
- },
- {
- "code": "HP:0001789",
- "display": "Hydrops fetalis"
- },
- {
- "code": "HP:0002089",
- "display": "Pulmonary hypoplasia"
- },
- {
- "code": "HP:0003422",
- "display": "Vertebral segmentation defect"
- },
- {
- "code": "HP:0002323",
- "display": "Anencephaly"
- },
- {
- "code": "HP:0000341",
- "display": "Narrow forehead"
- },
- {
- "code": "HP:0002869",
- "display": "Flared iliac wings"
- },
- {
- "code": "HP:0003100",
- "display": "Slender long bone"
- },
- {
- "code": "HP:0003275",
- "display": "Narrow pelvis bone"
- },
- {
- "code": "HP:0009891",
- "display": "Underdeveloped supraorbital ridges"
- },
- {
- "code": "HP:0011039",
- "display": "Abnormality of the helix"
- },
- {
- "code": "HP:0008572",
- "display": "External ear malformation"
- },
- {
- "code": "HP:0009738",
- "display": "Abnormality of the antihelix"
- },
- {
- "code": "HP:0011328",
- "display": "Abnormality of fontanelles"
- },
- {
- "code": "HP:0012155",
- "display": "Decreased corneal sensation"
- },
- {
- "code": "HP:0004602",
- "display": "Cervical C2/C3 vertebral fusion"
- },
- {
- "code": "HP:0002997",
- "display": "Abnormality of the ulna"
- },
- {
- "code": "HP:0009777",
- "display": "Absent thumb"
- },
- {
- "code": "HP:0002893",
- "display": "Pituitary adenoma"
- },
- {
- "code": "HP:0040278",
- "display": "Prolactinoma"
- },
- {
- "code": "HP:0001555",
- "display": "Asymmetry of the thorax"
- },
- {
- "code": "HP:0000902",
- "display": "Rib fusion"
- },
- {
- "code": "HP:0002164",
- "display": "Nail dysplasia"
- },
- {
- "code": "HP:0011314",
- "display": "Abnormality of long bone morphology"
- },
- {
- "code": "HP:0002867",
- "display": "Abnormality of the ilium"
- },
- {
- "code": "HP:0000774",
- "display": "Narrow chest"
- },
- {
- "code": "HP:0006482",
- "display": "Abnormality of dental morphology"
- },
- {
- "code": "HP:0004383",
- "display": "Hypoplastic left heart"
- },
- {
- "code": "HP:0002015",
- "display": "Dysphagia"
- },
- {
- "code": "HP:0500093",
- "display": "Food allergy"
- },
- {
- "code": "HP:0001519",
- "display": "Disproportionate tall stature"
- },
- {
- "code": "HP:0003179",
- "display": "Protrusio acetabuli"
- },
- {
- "code": "HP:0007385",
- "display": "Aplasia cutis congenita of scalp"
- },
- {
- "code": "HP:0000716",
- "display": "Depressivity"
- },
- {
- "code": "HP:0012583",
- "display": "Unilateral renal hypoplasia"
- },
- {
- "code": "HP:0000618",
- "display": "Blindness"
- },
- {
- "code": "HP:0001004",
- "display": "Lymphedema"
- },
- {
- "code": "HP:0002652",
- "display": "Skeletal dysplasia"
- },
- {
- "code": "HP:0012520",
- "display": "Perivascular spaces"
- },
- {
- "code": "HP:0005293",
- "display": "Venous insufficiency"
- },
- {
- "code": "HP:0012432",
- "display": "Chronic fatigue"
- },
- {
- "code": "HP:0002578",
- "display": "Gastroparesis"
- },
- {
- "code": "HP:0001658",
- "display": "Myocardial infarction"
- },
- {
- "code": "HP:0001802",
- "display": "Absent toenail"
- },
- {
- "code": "HP:0001821",
- "display": "Broad nail"
- },
- {
- "code": "HP:0000807",
- "display": "Glandular hypospadias"
- },
- {
- "code": "HP:0100582",
- "display": "Nasal polyposis"
- },
- {
- "code": "HP:0002653",
- "display": "Bone pain"
- },
- {
- "code": "HP:0001073",
- "display": "Cigarette-paper scars"
- },
- {
- "code": "HP:0031913",
- "display": "Rhombencephalosynapsis"
- },
- {
- "code": "HP:0002617",
- "display": "Dilatation"
- },
- {
- "code": "HP:0005107",
- "display": "Abnormal sacrum morphology"
- },
- {
- "code": "HP:0002025",
- "display": "Anal stenosis"
- },
- {
- "code": "HP:0009099",
- "display": "Median cleft palate"
- },
- {
- "code": "HP:0003212",
- "display": "Increased circulating IgE level"
- },
- {
- "code": "HP:0001319",
- "display": "Neonatal hypotonia"
- },
- {
- "code": "HP:0002659",
- "display": "Increased susceptibility to fractures"
- },
- {
- "code": "HP:0025246",
- "display": "Trichilemmal cyst"
- },
- {
- "code": "HP:0002107",
- "display": "Pneumothorax"
- },
- {
- "code": "HP:0000107",
- "display": "Renal cyst"
- },
- {
- "code": "HP:0001025",
- "display": "Urticaria"
- },
- {
- "code": "HP:0002204",
- "display": "Pulmonary embolism"
- },
- {
- "code": "HP:0001058",
- "display": "Poor wound healing"
- },
- {
- "code": "HP:0003010",
- "display": "Prolonged bleeding time"
- },
- {
- "code": "HP:0100502",
- "display": "Vitamin B12 deficiency"
- },
- {
- "code": "HP:0100510",
- "display": "Low levels of vitamin C"
- },
- {
- "code": "HP:0030976",
- "display": "Abnormal factor VIII activity"
- },
- {
- "code": "HP:0100789",
- "display": "Torus palatinus"
- },
- {
- "code": "HP:0000108",
- "display": "Renal corticomedullary cysts"
- },
- {
- "code": "HP:0000072",
- "display": "Hydroureter"
- },
- {
- "code": "HP:0000019",
- "display": "Urinary hesitancy"
- },
- {
- "code": "HP:0100771",
- "display": "Hypoperistalsis"
- },
- {
- "code": "HP:0000021",
- "display": "Megacystis"
- },
- {
- "code": "HP:0004388",
- "display": "Microcolon"
- },
- {
- "code": "HP:0005247",
- "display": "Hypoplasia of the abdominal wall musculature"
- },
- {
- "code": "HP:0004794",
- "display": "Malrotation of small bowel"
- },
- {
- "code": "HP:0000045",
- "display": "Abnormality of the scrotum"
- },
- {
- "code": "HP:0002236",
- "display": "Frontal upsweep of hair"
- },
- {
- "code": "HP:0000212",
- "display": "Gingival overgrowth"
- },
- {
- "code": "HP:0001808",
- "display": "Fragile nails"
- },
- {
- "code": "HP:0000225",
- "display": "Gingival bleeding"
- },
- {
- "code": "HP:0006009",
- "display": "Broad phalanx"
- },
- {
- "code": "HP:0001837",
- "display": "Broad toe"
- },
- {
- "code": "HP:0001946",
- "display": "Ketosis"
- },
- {
- "code": "HP:0002490",
- "display": "Increased CSF lactate"
- },
- {
- "code": "HP:0002922",
- "display": "Increased CSF protein"
- },
- {
- "code": "HP:0003128",
- "display": "Lactic acidosis"
- },
- {
- "code": "HP:0003111",
- "display": "Abnormal blood ion concentration"
- },
- {
- "code": "HP:0032234",
- "display": "Increased circulating creatine kinase MM isoform"
- },
- {
- "code": "HP:0003348",
- "display": "Hyperalaninemia"
- },
- {
- "code": "HP:0008347",
- "display": "Decreased activity of mitochondrial complex IV"
- },
- {
- "code": "HP:0000326",
- "display": "Abnormality of the maxilla"
- },
- {
- "code": "HP:0010758",
- "display": "Abnormality of the premaxilla"
- },
- {
- "code": "HP:0005681",
- "display": "Juvenile rheumatoid arthritis"
- },
- {
- "code": "HP:0000514",
- "display": "Slow saccadic eye movements"
- },
- {
- "code": "HP:0002788",
- "display": "Recurrent upper respiratory tract infections"
- },
- {
- "code": "HP:0003396",
- "display": "Syringomyelia"
- },
- {
- "code": "HP:0003011",
- "display": "Abnormality of the musculature"
- },
- {
- "code": "HP:0002098",
- "display": "Respiratory distress"
- },
- {
- "code": "HP:0002018",
- "display": "Nausea"
- },
- {
- "code": "HP:0002014",
- "display": "Diarrhea"
- },
- {
- "code": "HP:0025168",
- "display": "Left ventricular diastolic dysfunction"
- },
- {
- "code": "HP:0001679",
- "display": "Abnormal aortic morphology"
- },
- {
- "code": "HP:0000159",
- "display": "Abnormal lip morphology"
- },
- {
- "code": "HP:0011338",
- "display": "Abnormality of mouth shape"
- },
- {
- "code": "HP:0000478",
- "display": "Abnormality of the eye"
- },
- {
- "code": "HP:0000154",
- "display": "Wide mouth"
- },
- {
- "code": "HP:0001513",
- "display": "Obesity"
- },
- {
- "code": "HP:0002475",
- "display": "Myelomeningocele"
- },
- {
- "code": "HP:0003765",
- "display": "Psoriasiform dermatitis"
- },
- {
- "code": "HP:0010289",
- "display": "Cleft of alveolar ridge of maxilla"
- },
- {
- "code": "HP:0003908",
- "display": "Corner fracture of metaphysis"
- },
- {
- "code": "HP:0002190",
- "display": "Choroid plexus cyst"
- },
- {
- "code": "HP:0004370",
- "display": "Abnormality of temperature regulation"
- },
- {
- "code": "HP:0011611",
- "display": "Interrupted aortic arch"
- },
- {
- "code": "HP:0000737",
- "display": "Irritability"
- },
- {
- "code": "HP:0001344",
- "display": "Absent speech"
- },
- {
- "code": "HP:0002376",
- "display": "Developmental regression"
- },
- {
- "code": "HP:0002140",
- "display": "Ischemic stroke"
- },
- {
- "code": "HP:0001287",
- "display": "Meningitis"
- },
- {
- "code": "HP:0002721",
- "display": "Immunodeficiency"
- },
- {
- "code": "HP:0000041",
- "display": "Chordee"
- },
- {
- "code": "HP:0012854",
- "display": "Midshaft hypospadias"
- },
- {
- "code": "HP:0000808",
- "display": "Penoscrotal hypospadias"
- },
- {
- "code": "HP:0000048",
- "display": "Bifid scrotum"
- },
- {
- "code": "HP:0001047",
- "display": "Atopic dermatitis"
- },
- {
- "code": "HP:0001621",
- "display": "Weak voice"
- },
- {
- "code": "HP:0002372",
- "display": "Normal interictal EEG"
- },
- {
- "code": "HP:0012803",
- "display": "Anisometropia"
- },
- {
- "code": "HP:0011386",
- "display": "Narrow internal auditory canal"
- },
- {
- "code": "HP:0012714",
- "display": "Severe hearing impairment"
- },
- {
- "code": "HP:0006485",
- "display": "Agenesis of incisor"
- },
- {
- "code": "HP:0000787",
- "display": "Nephrolithiasis"
- },
- {
- "code": "HP:0011332",
- "display": "Hemifacial hypoplasia"
- },
- {
- "code": "HP:0001909",
- "display": "Leukemia"
- },
- {
- "code": "HP:0004808",
- "display": "Acute myeloid leukemia"
- },
- {
- "code": "HP:0006495",
- "display": "Aplasia/Hypoplasia of the ulna"
- },
- {
- "code": "HP:0001180",
- "display": "Hand oligodactyly"
- },
- {
- "code": "HP:0002991",
- "display": "Abnormality of fibula morphology"
- },
- {
- "code": "HP:0001849",
- "display": "Foot oligodactyly"
- },
- {
- "code": "HP:0006507",
- "display": "Aplasia/hypoplasia of the humerus"
- },
- {
- "code": "HP:0005613",
- "display": "Aplasia/hypoplasia of the femur"
- },
- {
- "code": "HP:0006492",
- "display": "Aplasia/Hypoplasia of the fibula"
- },
- {
- "code": "HP:0000098",
- "display": "Tall stature"
- },
- {
- "code": "HP:0003311",
- "display": "Hypoplasia of the odontoid process"
- },
- {
- "code": "HP:0005752",
- "display": "Flattened moderately deformed vertebrae"
- },
- {
- "code": "HP:0030039",
- "display": "Fused thoracic vertebrae"
- },
- {
- "code": "HP:0003304",
- "display": "Spondylolysis"
- },
- {
- "code": "HP:0001659",
- "display": "Aortic regurgitation"
- },
- {
- "code": "HP:0002984",
- "display": "Hypoplasia of the radius"
- },
- {
- "code": "HP:0009944",
- "display": "Partial duplication of thumb phalanx"
- },
- {
- "code": "HP:0005819",
- "display": "Short middle phalanx of finger"
- },
- {
- "code": "HP:0002110",
- "display": "Bronchiectasis"
- },
- {
- "code": "HP:0001677",
- "display": "Coronary artery atherosclerosis"
- },
- {
- "code": "HP:0001737",
- "display": "Pancreatic cysts"
- },
- {
- "code": "HP:0005113",
- "display": "Aortic arch aneurysm"
- },
- {
- "code": "HP:0003022",
- "display": "Hypoplasia of the ulna"
- },
- {
- "code": "HP:0002205",
- "display": "Recurrent respiratory infections"
- },
- {
- "code": "HP:0001669",
- "display": "Transposition of the great arteries"
- },
- {
- "code": "HP:0001716",
- "display": "Wolff-Parkinson-White syndrome"
- },
- {
- "code": "HP:0002758",
- "display": "Osteoarthritis"
- },
- {
- "code": "HP:0002037",
- "display": "Inflammation of the large intestine"
- },
- {
- "code": "HP:0009892",
- "display": "Anotia"
- },
- {
- "code": "HP:0011331",
- "display": "Hemifacial atrophy"
- },
- {
- "code": "HP:0009118",
- "display": "Aplasia/Hypoplasia of the mandible"
- },
- {
- "code": "HP:0009940",
- "display": "Asymmetry of the mandible"
- },
- {
- "code": "HP:0000682",
- "display": "Abnormality of dental enamel"
- },
- {
- "code": "HP:0009908",
- "display": "Anterior creases of earlobe"
- },
- {
- "code": "HP:0001541",
- "display": "Ascites"
- },
- {
- "code": "HP:0006687",
- "display": "Aortic tortuosity"
- },
- {
- "code": "HP:0010535",
- "display": "Sleep apnea"
- },
- {
- "code": "HP:0100633",
- "display": "Esophagitis"
- },
- {
- "code": "HP:0002105",
- "display": "Hemoptysis"
- },
- {
- "code": "HP:0002613",
- "display": "Biliary cirrhosis"
- },
- {
- "code": "HP:0004469",
- "display": "Chronic bronchitis"
- },
- {
- "code": "HP:0002720",
- "display": "Decreased circulating IgA level"
- },
- {
- "code": "HP:0002904",
- "display": "Hyperbilirubinemia"
- },
- {
- "code": "HP:0003237",
- "display": "Increased circulating IgG level"
- },
- {
- "code": "HP:0003262",
- "display": "Smooth muscle antibody positivity"
- },
- {
- "code": "HP:0011227",
- "display": "Elevated C-reactive protein level"
- },
- {
- "code": "HP:0001852",
- "display": "Sandal gap"
- },
- {
- "code": "HP:0004381",
- "display": "Supravalvular aortic stenosis"
- },
- {
- "code": "HP:0100700",
- "display": "Abnormal arachnoid mater morphology"
- },
- {
- "code": "HP:0002624",
- "display": "Abnormal venous morphology"
- },
- {
- "code": "HP:0002289",
- "display": "Alopecia universalis"
- },
- {
- "code": "HP:0009588",
- "display": "Vestibular Schwannoma"
- },
- {
- "code": "HP:0001648",
- "display": "Cor pulmonale"
- },
- {
- "code": "HP:0002091",
- "display": "Restrictive ventilatory defect"
- },
- {
- "code": "HP:0002092",
- "display": "Pulmonary arterial hypertension"
- },
- {
- "code": "HP:0002113",
- "display": "Pulmonary infiltrates"
- },
- {
- "code": "HP:0003138",
- "display": "Increased blood urea nitrogen"
- },
- {
- "code": "HP:0003259",
- "display": "Elevated serum creatinine"
- },
- {
- "code": "HP:0005180",
- "display": "Tricuspid regurgitation"
- },
- {
- "code": "HP:0012585",
- "display": "Renal atrophy"
- },
- {
- "code": "HP:0005133",
- "display": "Right ventricular dilatation"
- },
- {
- "code": "HP:0005575",
- "display": "Hemolytic-uremic syndrome"
- },
- {
- "code": "HP:0001697",
- "display": "Abnormal pericardium morphology"
- },
- {
- "code": "HP:0012486",
- "display": "Myelitis"
- },
- {
- "code": "HP:0002385",
- "display": "Paraparesis"
- },
- {
- "code": "HP:0006706",
- "display": "Cystic liver disease"
- },
- {
- "code": "HP:0010880",
- "display": "Increased nuchal translucency"
- },
- {
- "code": "HP:0000457",
- "display": "Depressed nasal ridge"
- },
- {
- "code": "HP:0002263",
- "display": "Exaggerated cupid's bow"
- },
- {
- "code": "HP:0002500",
- "display": "Abnormality of the cerebral white matter"
- },
- {
- "code": "HP:0002835",
- "display": "Aspiration"
- },
- {
- "code": "HP:0000600",
- "display": "Abnormality of the pharynx"
- },
- {
- "code": "HP:0004327",
- "display": "Abnormal vitreous humor morphology"
- },
- {
- "code": "HP:0004378",
- "display": "Abnormality of the anus"
- },
- {
- "code": "HP:0012374",
- "display": "obsolete Abnormal globe morphology"
- },
- {
- "code": "HP:0100768",
- "display": "Choriocarcinoma"
- },
- {
- "code": "HP:0030991",
- "display": "Sclerosing cholangitis"
- },
- {
- "code": "HP:0006510",
- "display": "Chronic pulmonary obstruction"
- },
- {
- "code": "HP:0000710",
- "display": "Hyperorality"
- },
- {
- "code": "HP:0001270",
- "display": "Motor delay"
- },
- {
- "code": "HP:0001548",
- "display": "Overgrowth"
- },
- {
- "code": "HP:0002311",
- "display": "Incoordination"
- },
- {
- "code": "HP:0006288",
- "display": "Advanced eruption of teeth"
- },
- {
- "code": "HP:0006323",
- "display": "Premature loss of primary teeth"
- },
- {
- "code": "HP:0009890",
- "display": "High anterior hairline"
- },
- {
- "code": "HP:0100034",
- "display": "Motor tics"
- },
- {
- "code": "HP:0100035",
- "display": "Phonic tics"
- },
- {
- "code": "HP:0000348",
- "display": "High forehead"
- },
- {
- "code": "HP:0001520",
- "display": "Large for gestational age"
- },
- {
- "code": "HP:0001239",
- "display": "Wrist flexion contracture"
- },
- {
- "code": "HP:0007359",
- "display": "Focal-onset seizure"
- },
- {
- "code": "HP:0000430",
- "display": "Underdeveloped nasal alae"
- },
- {
- "code": "HP:0007400",
- "display": "Irregular hyperpigmentation"
- },
- {
- "code": "HP:0100495",
- "display": "Mastocytosis"
- },
- {
- "code": "HP:0012378",
- "display": "Fatigue"
- },
- {
- "code": "HP:0002046",
- "display": "Heat intolerance"
- },
- {
- "code": "HP:0003270",
- "display": "Abdominal distention"
- },
- {
- "code": "HP:0002180",
- "display": "Neurodegeneration"
- },
- {
- "code": "HP:0003493",
- "display": "Antinuclear antibody positivity"
- },
- {
- "code": "HP:0030057",
- "display": "Autoimmune antibody positivity"
- },
- {
- "code": "HP:0006802",
- "display": "Abnormal anterior horn cell morphology"
- },
- {
- "code": "HP:0000064",
- "display": "Hypoplastic labia minora"
- },
- {
- "code": "HP:0000338",
- "display": "Hypomimic face"
- },
- {
- "code": "HP:0001642",
- "display": "Pulmonic stenosis"
- },
- {
- "code": "HP:0011344",
- "display": "Severe global developmental delay"
- },
- {
- "code": "HP:0200007",
- "display": "Abnormal size of the palpebral fissures"
- },
- {
- "code": "HP:0004464",
- "display": "Postauricular pit"
- },
- {
- "code": "HP:0000130",
- "display": "Abnormality of the uterus"
- },
- {
- "code": "HP:0000137",
- "display": "Abnormality of the ovary"
- },
- {
- "code": "HP:0000142",
- "display": "Abnormal vagina morphology"
- },
- {
- "code": "HP:0000370",
- "display": "Abnormality of the middle ear"
- },
- {
- "code": "HP:0011787",
- "display": "Central hypothyroidism"
- },
- {
- "code": "HP:0000274",
- "display": "Small face"
- },
- {
- "code": "HP:0000446",
- "display": "Narrow nasal bridge"
- },
- {
- "code": "HP:0000622",
- "display": "Blurred vision"
- },
- {
- "code": "HP:0001245",
- "display": "Small thenar eminence"
- },
- {
- "code": "HP:0009601",
- "display": "Aplasia/Hypoplasia of the thumb"
- },
- {
- "code": "HP:0011343",
- "display": "Moderate global developmental delay"
- },
- {
- "code": "HP:0000419",
- "display": "Abnormality of the nasal septum"
- },
- {
- "code": "HP:0000502",
- "display": "Abnormal conjunctiva morphology"
- },
- {
- "code": "HP:0000591",
- "display": "Abnormal sclera morphology"
- },
- {
- "code": "HP:0000615",
- "display": "Abnormal pupil morphology"
- },
- {
- "code": "HP:0001163",
- "display": "Abnormality of the metacarpal bones"
- },
- {
- "code": "HP:0001832",
- "display": "Abnormal metatarsal morphology"
- },
- {
- "code": "HP:0001850",
- "display": "Abnormality of the tarsal bones"
- },
- {
- "code": "HP:0010490",
- "display": "Abnormality of the palmar creases"
- },
- {
- "code": "HP:0010881",
- "display": "Abnormality of the umbilical cord"
- },
- {
- "code": "HP:0009113",
- "display": "Diaphragmatic weakness"
- },
- {
- "code": "HP:0011664",
- "display": "Left ventricular noncompaction cardiomyopathy"
- },
- {
- "code": "HP:0100240",
- "display": "Synostosis of joints"
- },
- {
- "code": "HP:0001838",
- "display": "Rocker bottom foot"
- },
- {
- "code": "HP:0003717",
- "display": "Minimal subcutaneous fat"
- },
- {
- "code": "HP:0001339",
- "display": "Lissencephaly"
- },
- {
- "code": "HP:0001591",
- "display": "Bell-shaped thorax"
- },
- {
- "code": "HP:0002655",
- "display": "Spondyloepiphyseal dysplasia"
- },
- {
- "code": "HP:0002983",
- "display": "Micromelia"
- },
- {
- "code": "HP:0003016",
- "display": "Metaphyseal widening"
- },
- {
- "code": "HP:0009826",
- "display": "Limb undergrowth"
- },
- {
- "code": "HP:0004488",
- "display": "Macrocephaly at birth"
- },
- {
- "code": "HP:0001695",
- "display": "Cardiac arrest"
- },
- {
- "code": "HP:0001712",
- "display": "Left ventricular hypertrophy"
- },
- {
- "code": "HP:0100775",
- "display": "Dural ectasia"
- },
- {
- "code": "HP:0000846",
- "display": "Adrenal insufficiency"
- },
- {
- "code": "HP:0002925",
- "display": "Increased thyroid-stimulating hormone level"
- },
- {
- "code": "HP:0100646",
- "display": "Thyroiditis"
- },
- {
- "code": "HP:0000836",
- "display": "Hyperthyroidism"
- },
- {
- "code": "HP:0004414",
- "display": "Abnormality of the pulmonary artery"
- },
- {
- "code": "HP:0000465",
- "display": "Webbed neck"
- },
- {
- "code": "HP:0000723",
- "display": "Restrictive behavior"
- },
- {
- "code": "HP:0002253",
- "display": "Colonic diverticula"
- },
- {
- "code": "HP:0001310",
- "display": "Dysmetria"
- },
- {
- "code": "HP:0000093",
- "display": "Proteinuria"
- },
- {
- "code": "HP:0002907",
- "display": "Microscopic hematuria"
- },
- {
- "code": "HP:0003073",
- "display": "Hypoalbuminemia"
- },
- {
- "code": "HP:0004315",
- "display": "Decreased circulating IgG level"
- },
- {
- "code": "HP:0000795",
- "display": "Abnormality of the urethra"
- },
- {
- "code": "HP:0001015",
- "display": "Prominent superficial veins"
- },
- {
- "code": "HP:0004691",
- "display": "2-3 toe syndactyly"
- },
- {
- "code": "HP:0005328",
- "display": "Progeroid facial appearance"
- },
- {
- "code": "HP:0005487",
- "display": "Prominent metopic ridge"
- },
- {
- "code": "HP:0007552",
- "display": "Abnormal subcutaneous fat tissue distribution"
- },
- {
- "code": "HP:0100678",
- "display": "Premature skin wrinkling"
- },
- {
- "code": "HP:0031137",
- "display": "Storage in hepatocytes"
- },
- {
- "code": "HP:0002521",
- "display": "Hypsarrhythmia"
- },
- {
- "code": "HP:0005390",
- "display": "Recurrent opportunistic infections"
- },
- {
- "code": "HP:0002716",
- "display": "Lymphadenopathy"
- },
- {
- "code": "HP:0005379",
- "display": "obsolete Severe T lymphocytopenia"
- },
- {
- "code": "HP:0004432",
- "display": "Agammaglobulinemia"
- },
- {
- "code": "HP:0006695",
- "display": "Atrioventricular canal defect"
- },
- {
- "code": "HP:0001733",
- "display": "Pancreatitis"
- },
- {
- "code": "HP:0002350",
- "display": "Cerebellar cyst"
- },
- {
- "code": "HP:0012110",
- "display": "Hypoplasia of the pons"
- },
- {
- "code": "HP:0001948",
- "display": "Alkalosis"
- },
- {
- "code": "HP:0003113",
- "display": "Hypochloremia"
- },
- {
- "code": "HP:0003155",
- "display": "Elevated alkaline phosphatase"
- },
- {
- "code": "HP:0003542",
- "display": "Increased serum pyruvate"
- },
- {
- "code": "HP:0000421",
- "display": "Epistaxis"
- },
- {
- "code": "HP:0200136",
- "display": "Oral-pharyngeal dysphagia"
- },
- {
- "code": "HP:0000805",
- "display": "Enuresis"
- },
- {
- "code": "HP:0005616",
- "display": "Accelerated skeletal maturation"
- },
- {
- "code": "HP:0002459",
- "display": "obsolete Dysautonomia"
- },
- {
- "code": "HP:0007302",
- "display": "Bipolar affective disorder"
- },
- {
- "code": "HP:0100602",
- "display": "Preeclampsia"
- },
- {
- "code": "HP:0100508",
- "display": "Abnormality of vitamin metabolism"
- },
- {
- "code": "HP:0001140",
- "display": "Limbal dermoid"
- },
- {
- "code": "HP:0000143",
- "display": "Rectovaginal fistula"
- },
- {
- "code": "HP:0001746",
- "display": "Asplenia"
- },
- {
- "code": "HP:0012715",
- "display": "Profound hearing impairment"
- },
- {
- "code": "HP:0001748",
- "display": "Polysplenia"
- },
- {
- "code": "HP:0003072",
- "display": "Hypercalcemia"
- },
- {
- "code": "HP:0002905",
- "display": "Hyperphosphatemia"
- },
- {
- "code": "HP:0002901",
- "display": "Hypocalcemia"
- },
- {
- "code": "HP:0001367",
- "display": "Abnormal joint morphology"
- },
- {
- "code": "HP:0010562",
- "display": "Keloids"
- },
- {
- "code": "HP:0004430",
- "display": "Severe combined immunodeficiency"
- },
- {
- "code": "HP:0000003",
- "display": "Multicystic kidney dysplasia"
- },
- {
- "code": "HP:0010980",
- "display": "Hyperlipoproteinemia"
- },
- {
- "code": "HP:0002155",
- "display": "Hypertriglyceridemia"
- },
- {
- "code": "HP:0000520",
- "display": "Proptosis"
- },
- {
- "code": "HP:0000180",
- "display": "Lobulated tongue"
- },
- {
- "code": "HP:0005486",
- "display": "Small fontanelle"
- },
- {
- "code": "HP:0000891",
- "display": "Cervical ribs"
- },
- {
- "code": "HP:0002557",
- "display": "Hypoplastic nipples"
- },
- {
- "code": "HP:0009112",
- "display": "Aplasia of the left hemidiaphragm"
- },
- {
- "code": "HP:0001719",
- "display": "Double outlet right ventricle"
- },
- {
- "code": "HP:0001682",
- "display": "Subvalvular aortic stenosis"
- },
- {
- "code": "HP:0001667",
- "display": "Right ventricular hypertrophy"
- },
- {
- "code": "HP:0002101",
- "display": "Abnormal lung lobation"
- },
- {
- "code": "HP:0002202",
- "display": "Pleural effusion"
- },
- {
- "code": "HP:0002566",
- "display": "Intestinal malrotation"
- },
- {
- "code": "HP:0004510",
- "display": "Pancreatic islet-cell hyperplasia"
- },
- {
- "code": "HP:0001747",
- "display": "Accessory spleen"
- },
- {
- "code": "HP:0002181",
- "display": "Cerebral edema"
- },
- {
- "code": "HP:0000967",
- "display": "Petechiae"
- },
- {
- "code": "HP:0009702",
- "display": "Carpal synostosis"
- },
- {
- "code": "HP:0000927",
- "display": "Abnormality of skeletal maturation"
- },
- {
- "code": "HP:0004348",
- "display": "Abnormality of bone mineral density"
- },
- {
- "code": "HP:0003019",
- "display": "Abnormality of the wrist"
- },
- {
- "code": "HP:0003063",
- "display": "Abnormality of the humerus"
- },
- {
- "code": "HP:0001059",
- "display": "Pterygium"
- },
- {
- "code": "HP:0001528",
- "display": "Hemihypertrophy"
- },
- {
- "code": "HP:0011228",
- "display": "Horizontal eyebrow"
- },
- {
- "code": "HP:0000766",
- "display": "Abnormality of the sternum"
- },
- {
- "code": "HP:0001254",
- "display": "Lethargy"
- },
- {
- "code": "HP:0002360",
- "display": "Sleep disturbance"
- },
- {
- "code": "HP:0001063",
- "display": "Acrocyanosis"
- },
- {
- "code": "HP:0001769",
- "display": "Broad foot"
- },
- {
- "code": "HP:0010280",
- "display": "Stomatitis"
- },
- {
- "code": "HP:0001288",
- "display": "Gait disturbance"
- },
- {
- "code": "HP:0008330",
- "display": "Reduced von Willebrand factor activity"
- },
- {
- "code": "HP:0001954",
- "display": "Recurrent fever"
- },
- {
- "code": "HP:0004311",
- "display": "Abnormal macrophage morphology"
- },
- {
- "code": "HP:0012539",
- "display": "Non-Hodgkin lymphoma"
- },
- {
- "code": "HP:0002074",
- "display": "Increased neuronal autofluorescent lipopigment"
- },
- {
- "code": "HP:0002973",
- "display": "Abnormality of the forearm"
- },
- {
- "code": "HP:0003203",
- "display": "Impaired oxidative burst"
- },
- {
- "code": "HP:0003027",
- "display": "Mesomelia"
- },
- {
- "code": "HP:0002754",
- "display": "Osteomyelitis"
- },
- {
- "code": "HP:0004431",
- "display": "Complement deficiency"
- },
- {
- "code": "HP:0001258",
- "display": "Spastic paraplegia"
- },
- {
- "code": "HP:0012811",
- "display": "Wide nasal ridge"
- },
- {
- "code": "HP:0011832",
- "display": "Narrow nasal tip"
- },
- {
- "code": "HP:0000288",
- "display": "Abnormality of the philtrum"
- },
- {
- "code": "HP:0002357",
- "display": "Dysphasia"
- },
- {
- "code": "HP:0000871",
- "display": "Panhypopituitarism"
- },
- {
- "code": "HP:0000233",
- "display": "Thin vermilion border"
- },
- {
- "code": "HP:0003281",
- "display": "Increased serum ferritin"
- },
- {
- "code": "HP:0010752",
- "display": "Cleft mandible"
- },
- {
- "code": "HP:0000437",
- "display": "Depressed nasal tip"
- },
- {
- "code": "HP:0000453",
- "display": "Choanal atresia"
- },
- {
- "code": "HP:0000863",
- "display": "Central diabetes insipidus"
- },
- {
- "code": "HP:0000058",
- "display": "Abnormality of the labia"
- },
- {
- "code": "HP:0007418",
- "display": "Alopecia totalis"
- },
- {
- "code": "HP:0100765",
- "display": "Abnormality of the tonsils"
- },
- {
- "code": "HP:0100747",
- "display": "Macrodactyly of toe"
- },
- {
- "code": "HP:0002109",
- "display": "obsolete Abnormality of the bronchi"
- },
- {
- "code": "HP:0011950",
- "display": "Bronchiolitis"
- },
- {
- "code": "HP:0002850",
- "display": "Decreased circulating total IgM"
- },
- {
- "code": "HP:0001395",
- "display": "Hepatic fibrosis"
- },
- {
- "code": "HP:0010701",
- "display": "Abnormal immunoglobulin level"
- },
- {
- "code": "HP:0009928",
- "display": "Thick nasal alae"
- },
- {
- "code": "HP:0010807",
- "display": "Open bite"
- },
- {
- "code": "HP:0002126",
- "display": "Polymicrogyria"
- },
- {
- "code": "HP:0002900",
- "display": "Hypokalemia"
- },
- {
- "code": "HP:0000155",
- "display": "Oral ulcer"
- },
- {
- "code": "HP:0000135",
- "display": "Hypogonadism"
- },
- {
- "code": "HP:0100783",
- "display": "Breast aplasia"
- },
- {
- "code": "HP:0000336",
- "display": "Prominent supraorbital ridges"
- },
- {
- "code": "HP:0010557",
- "display": "Overlapping fingers"
- },
- {
- "code": "HP:0005100",
- "display": "Premature birth following premature rupture of fetal membranes"
- },
- {
- "code": "HP:0002594",
- "display": "Pancreatic hypoplasia"
- },
- {
- "code": "HP:0010109",
- "display": "Short hallux"
- },
- {
- "code": "HP:0002334",
- "display": "Abnormality of the cerebellar vermis"
- },
- {
- "code": "HP:0003326",
- "display": "Myalgia"
- },
- {
- "code": "HP:0001645",
- "display": "Sudden cardiac death"
- },
- {
- "code": "HP:0001612",
- "display": "Weak cry"
- },
- {
- "code": "HP:0001618",
- "display": "Dysphonia"
- },
- {
- "code": "HP:0001336",
- "display": "Myoclonus"
- },
- {
- "code": "HP:0001283",
- "display": "Bulbar palsy"
- },
- {
- "code": "HP:0002080",
- "display": "Intention tremor"
- },
- {
- "code": "HP:0002174",
- "display": "Postural tremor"
- },
- {
- "code": "HP:0002064",
- "display": "Spastic gait"
- },
- {
- "code": "HP:0009800",
- "display": "Maternal diabetes"
- },
- {
- "code": "HP:0001662",
- "display": "Bradycardia"
- },
- {
- "code": "HP:0006595",
- "display": "Scapulohumeral synostosis"
- },
- {
- "code": "HP:0005815",
- "display": "Supernumerary ribs"
- },
- {
- "code": "HP:0000307",
- "display": "Pointed chin"
- },
- {
- "code": "HP:0012371",
- "display": "Hyperplasia of midface"
- },
- {
- "code": "HP:0002643",
- "display": "Neonatal respiratory distress"
- },
- {
- "code": "HP:0002093",
- "display": "Respiratory insufficiency"
- },
- {
- "code": "HP:0010310",
- "display": "Chylothorax"
- },
- {
- "code": "HP:0006376",
- "display": "Limited elbow flexion"
- },
- {
- "code": "HP:0006467",
- "display": "Limited shoulder movement"
- },
- {
- "code": "HP:0010505",
- "display": "Limitation of movement at ankles"
- },
- {
- "code": "HP:0010501",
- "display": "Limitation of knee mobility"
- },
- {
- "code": "HP:0009896",
- "display": "Abnormality of the antitragus"
- },
- {
- "code": "HP:0004404",
- "display": "Abnormal nipple morphology"
- },
- {
- "code": "HP:0011957",
- "display": "Abnormal pectoral muscle morphology"
- },
- {
- "code": "HP:0000777",
- "display": "Abnormality of the thymus"
- },
- {
- "code": "HP:0000418",
- "display": "Narrow nasal ridge"
- },
- {
- "code": "HP:0001572",
- "display": "Macrodontia"
- },
- {
- "code": "HP:0002967",
- "display": "Cubitus valgus"
- },
- {
- "code": "HP:0000988",
- "display": "Skin rash"
- },
- {
- "code": "HP:0009733",
- "display": "Glioma"
- },
- {
- "code": "HP:0012452",
- "display": "Restless legs"
- },
- {
- "code": "HP:0100031",
- "display": "Neoplasm of the thyroid gland"
- },
- {
- "code": "HP:0030127",
- "display": "Endometriosis"
- },
- {
- "code": "HP:0000123",
- "display": "Nephritis"
- },
- {
- "code": "HP:0001974",
- "display": "Leukocytosis"
- },
- {
- "code": "HP:0010976",
- "display": "B lymphocytopenia"
- },
- {
- "code": "HP:0000010",
- "display": "Recurrent urinary tract infections"
- },
- {
- "code": "HP:0100807",
- "display": "Long fingers"
- },
- {
- "code": "HP:0000653",
- "display": "Sparse eyelashes"
- },
- {
- "code": "HP:0000171",
- "display": "Microglossia"
- },
- {
- "code": "HP:0002575",
- "display": "Tracheoesophageal fistula"
- },
- {
- "code": "HP:0009933",
- "display": "Narrow naris"
- },
- {
- "code": "HP:0000883",
- "display": "Thin ribs"
- },
- {
- "code": "HP:0000121",
- "display": "Nephrocalcinosis"
- },
- {
- "code": "HP:0001349",
- "display": "Facial diplegia"
- },
- {
- "code": "HP:0012037",
- "display": "Pectoralis amyotrophy"
- },
- {
- "code": "HP:0100560",
- "display": "Upper limb asymmetry"
- },
- {
- "code": "HP:0005684",
- "display": "Distal arthrogryposis"
- },
- {
- "code": "HP:0010722",
- "display": "Asymmetry of the ears"
- },
- {
- "code": "HP:0009380",
- "display": "Aplasia of the fingers"
- },
- {
- "code": "HP:0001657",
- "display": "Prolonged QT interval"
- },
- {
- "code": "HP:0002040",
- "display": "Esophageal varix"
- },
- {
- "code": "HP:0000613",
- "display": "Photophobia"
- },
- {
- "code": "HP:0000561",
- "display": "Absent eyelashes"
- },
- {
- "code": "HP:0002223",
- "display": "Absent eyebrow"
- },
- {
- "code": "HP:0002591",
- "display": "Polyphagia"
- },
- {
- "code": "HP:0002373",
- "display": "Febrile seizure (within the age range of 3 months to 6 years)"
- },
- {
- "code": "HP:0002419",
- "display": "Molar tooth sign on MRI"
- },
- {
- "code": "HP:0001010",
- "display": "Hypopigmentation of the skin"
- },
- {
- "code": "HP:0005772",
- "display": "Aplasia/Hypoplasia of the tibia"
- },
- {
- "code": "HP:0002211",
- "display": "White forelock"
- },
- {
- "code": "HP:0007126",
- "display": "Proximal amyotrophy"
- },
- {
- "code": "HP:0003798",
- "display": "Nemaline bodies"
- },
- {
- "code": "HP:0006533",
- "display": "Bronchodysplasia"
- },
- {
- "code": "HP:0003391",
- "display": "Gowers sign"
- },
- {
- "code": "HP:0000771",
- "display": "Gynecomastia"
- },
- {
- "code": "HP:0100785",
- "display": "Insomnia"
- },
- {
- "code": "HP:0010529",
- "display": "Echolalia"
- },
- {
- "code": "HP:0000363",
- "display": "Abnormality of earlobe"
- },
- {
- "code": "HP:0002612",
- "display": "Congenital hepatic fibrosis"
- },
- {
- "code": "HP:0006721",
- "display": "Acute lymphoblastic leukemia"
- },
- {
- "code": "HP:0001958",
- "display": "Nonketotic hypoglycemia"
- },
- {
- "code": "HP:0003457",
- "display": "EMG abnormality"
- },
- {
- "code": "HP:0010636",
- "display": "Schizencephaly"
- },
- {
- "code": "HP:0005266",
- "display": "Intestinal polyp"
- },
- {
- "code": "HP:0200063",
- "display": "Colorectal polyposis"
- },
- {
- "code": "HP:0001762",
- "display": "Talipes equinovarus"
- },
- {
- "code": "HP:0000056",
- "display": "Abnormality of the clitoris"
- },
- {
- "code": "HP:0008655",
- "display": "Aplasia/Hypoplasia of the fallopian tube"
- },
- {
- "code": "HP:0002072",
- "display": "Chorea"
- },
- {
- "code": "HP:0008734",
- "display": "Decreased testicular size"
- },
- {
- "code": "HP:0002136",
- "display": "Broad-based gait"
- },
- {
- "code": "HP:0010958",
- "display": "Bilateral renal agenesis"
- },
- {
- "code": "HP:0002510",
- "display": "Spastic tetraplegia"
- },
- {
- "code": "HP:0003234",
- "display": "Decreased plasma carnitine"
- },
- {
- "code": "HP:0000720",
- "display": "Mood swings"
- },
- {
- "code": "HP:0012638",
- "display": "Abnormal nervous system physiology"
- },
- {
- "code": "HP:0002803",
- "display": "Congenital contracture"
- },
- {
- "code": "HP:0000152",
- "display": "Abnormality of head or neck"
- },
- {
- "code": "HP:0004377",
- "display": "Hematological neoplasm"
- },
- {
- "code": "HP:0100006",
- "display": "Neoplasm of the central nervous system"
- },
- {
- "code": "HP:0012759",
- "display": "Neurodevelopmental abnormality"
- },
- {
- "code": "HP:0011805",
- "display": "Abnormal skeletal muscle morphology"
- },
- {
- "code": "HP:0003634",
- "display": "Amyoplasia"
- },
- {
- "code": "HP:0001507",
- "display": "Growth abnormality"
- },
- {
- "code": "HP:0001939",
- "display": "Abnormality of metabolism/homeostasis"
- },
- {
- "code": "HP:0011013",
- "display": "Abnormal circulating carbohydrate concentration"
- },
- {
- "code": "HP:0410008",
- "display": "Abnormality of the peripheral nervous system"
- },
- {
- "code": "HP:0200134",
- "display": "Epileptic encephalopathy"
- },
- {
- "code": "HP:0001881",
- "display": "Abnormal leukocyte morphology"
- },
- {
- "code": "HP:0005549",
- "display": "obsolete Congenital neutropenia"
- },
- {
- "code": "HP:0004439",
- "display": "Craniofacial dysostosis"
- },
- {
- "code": "HP:0012443",
- "display": "Abnormality of brain morphology"
- },
- {
- "code": "HP:0000202",
- "display": "Oral cleft"
- },
- {
- "code": "HP:0011842",
- "display": "Abnormality of skeletal morphology"
- },
- {
- "code": "HP:0003808",
- "display": "Abnormal muscle tone"
- },
- {
- "code": "HP:0001574",
- "display": "Abnormality of the integument"
- },
- {
- "code": "HP:0030056",
- "display": "Uncombable hair"
- },
- {
- "code": "HP:0003549",
- "display": "Abnormality of connective tissue"
- },
- {
- "code": "HP:0030875",
- "display": "Abnormality of pulmonary circulation"
- },
- {
- "code": "HP:0000118",
- "display": "Phenotypic abnormality"
- },
- {
- "code": "HP:0012469",
- "display": "Infantile spasms"
- },
- {
- "code": "HP:0032894",
- "display": "Seizure precipitated by febrile infection"
- },
- {
- "code": "HP:0100661",
- "display": "Trigeminal neuralgia"
- },
- {
- "code": "HP:0012207",
- "display": "Reduced sperm motility"
- },
- {
- "code": "HP:0000798",
- "display": "Oligospermia"
- },
- {
- "code": "HP:0012864",
- "display": "Abnormal sperm morphology"
- },
- {
- "code": "HP:0008232",
- "display": "Elevated circulating follicle stimulating hormone level"
- },
- {
- "code": "HP:0040306",
- "display": "Decreased male libido"
- },
- {
- "code": "HP:0012208",
- "display": "Immotile sperm"
- },
- {
- "code": "HP:0000027",
- "display": "Azoospermia"
- },
- {
- "code": "HP:0000870",
- "display": "Increased circulating prolactin concentration"
- },
- {
- "code": "HP:0008187",
- "display": "Absence of secondary sex characteristics"
- },
- {
- "code": "HP:0010469",
- "display": "Absent testis"
- },
- {
- "code": "HP:0011969",
- "display": "Elevated circulating luteinizing hormone level"
- },
- {
- "code": "HP:0040171",
- "display": "Decreased serum testosterone level"
- },
- {
- "code": "HP:0003251",
- "display": "Male infertility"
- },
- {
- "code": "HP:0009804",
- "display": "Reduced number of teeth"
- },
- {
- "code": "HP:0000548",
- "display": "Cone/cone-rod dystrophy"
- },
- {
- "code": "HP:0000546",
- "display": "Retinal degeneration"
- },
- {
- "code": "HP:0008002",
- "display": "Abnormality of macular pigmentation"
- },
- {
- "code": "HP:0000608",
- "display": "Macular degeneration"
- },
- {
- "code": "HP:0030611",
- "display": "Retinal pigment epithelial loss on macular OCT"
- },
- {
- "code": "HP:0001135",
- "display": "Chorioretinal dystrophy"
- },
- {
- "code": "HP:0030468",
- "display": "Abnormal multifocal electroretinogram"
- },
- {
- "code": "HP:00030532",
- "display": "Visual acuity test abnormality"
- },
- {
- "code": "HP:0007401",
- "display": "Macular atrophy"
- },
- {
- "code": "HP:0030466",
- "display": "Abnormal full-field electroretinogram"
- },
- {
- "code": "HP:007737",
- "display": "Bone spicule pigmentation of the retina"
- },
- {
- "code": "HP:0011342",
- "display": "Mild global developmental delay"
- },
- {
- "code": "HP:0030610",
- "display": "Photoreceptor outer segment loss on macular OCT"
- },
- {
- "code": "HP:0007722",
- "display": "Retinal pigment epithelial atrophy"
- },
- {
- "code": "HP:0030493",
- "display": "Abnormality of foveal pigmentation"
- },
- {
- "code": "HP:0007843",
- "display": "Attenuation of retinal blood vessels"
- },
- {
- "code": "HP:0007754",
- "display": "Macular dystrophy"
- },
- {
- "code": "HP:0011509",
- "display": "Macular hyperpigmentation"
- },
- {
- "code": "HP:0008527",
- "display": "Congenital sensorineural hearing impairment"
- },
- {
- "code": "HP:0200070",
- "display": "Peripheral retinal atrophy"
- },
- {
- "code": "HP:0007793",
- "display": "Granular macular appearance"
- },
- {
- "code": "HP:0007987",
- "display": "Progressive visual field defects"
- },
- {
- "code": "HP:0100817",
- "display": "Renovascular hypertension"
- },
- {
- "code": "HP:0007868",
- "display": "obsolete Age-related macular degeneration"
- },
- {
- "code": "HP:0030527",
- "display": "Very severe constriction of peripheral visual field"
- },
- {
- "code": "HP:0030551",
- "display": "Visual acuity light perception with projection"
- },
- {
- "code": "HP:0011505",
- "display": "Cystoid macular edema"
- },
- {
- "code": "HP:0010442",
- "display": "Polydactyly"
- },
- {
- "code": "HP:0007642",
- "display": "Congenital stationary night blindness"
- },
- {
- "code": "HP:0009073",
- "display": "Progressive proximal muscle weakness"
- },
- {
- "code": "HP:0003741",
- "display": "Congenital muscular dystrophy"
- },
- {
- "code": "HP:0100299",
- "display": "Muscle fiber inclusion bodies"
- },
- {
- "code": "HP:0003540",
- "display": "Impaired platelet aggregation"
- },
- {
- "code": "HP:0010489",
- "display": "Absent palmar crease"
- },
- {
- "code": "HP:0009824",
- "display": "Upper limb undergrowth"
- },
- {
- "code": "HP:0002395",
- "display": "Lower limb hyperreflexia"
- },
- {
- "code": "HP:0001138",
- "display": "Optic neuropathy"
- },
- {
- "code": "HP:0007103",
- "display": "Hypointensity of cerebral white matter on MRI"
- },
- {
- "code": "HP:0003458",
- "display": "EMG: myopathic abnormalities"
- },
- {
- "code": "HP:0002987",
- "display": "Elbow flexion contracture"
- },
- {
- "code": "HP:0006466",
- "display": "Ankle flexion contracture"
- },
- {
- "code": "HP:0008458",
- "display": "Progressive congenital scoliosis"
- },
- {
- "code": "HP:0000473",
- "display": "Torticollis"
- },
- {
- "code": "HP:0011800",
- "display": "Midface retrusion"
- },
- {
- "code": "HP:0000597",
- "display": "Ophthalmoparesis"
- },
- {
- "code": "HP:0005853",
- "display": "Congenital foot contraction deformities"
- },
- {
- "code": "HP:0007002",
- "display": "Motor axonal neuropathy"
- },
- {
- "code": "HP:0003327",
- "display": "Axial muscle weakness"
- },
- {
- "code": "HP:0003306",
- "display": "Spinal rigidity"
- },
- {
- "code": "HP:0002068",
- "display": "Neuromuscular dysphagia"
- },
- {
- "code": "HP:0001002",
- "display": "obsolete Decreased subcutaneous fat"
- },
- {
- "code": "HP:0002880",
- "display": "obsolete Respiratory difficulties"
- },
- {
- "code": "HP:0006829",
- "display": "Severe muscular hypotonia"
- },
- {
- "code": "HP:0011448",
- "display": "Ankle clonus"
- },
- {
- "code": "HP:0003487",
- "display": "Babinski sign"
- },
- {
- "code": "HP:0002378",
- "display": "Hand tremor"
- },
- {
- "code": "HP:0002747",
- "display": "Respiratory insufficiency due to muscle weakness"
- },
- {
- "code": "HP:0002579",
- "display": "Gastrointestinal dysmotility"
- },
- {
- "code": "HP:0001041",
- "display": "Facial erythema"
- },
- {
- "code": "HP:0040180",
- "display": "Hyperkeratosis pilaris"
- },
- {
- "code": "HP:0001382",
- "display": "Joint hypermobility"
- },
- {
- "code": "HP:0003722",
- "display": "Neck flexor weakness"
- },
- {
- "code": "HP:0003323",
- "display": "Progressive muscle weakness"
- },
- {
- "code": "HP:0002380",
- "display": "Fasciculations"
- },
- {
- "code": "HP:0012785",
- "display": "Flexion contracture of finger"
- },
- {
- "code": "HP:0007936",
- "display": "Restrictive external ophthalmoplegia"
- },
- {
- "code": "HP:0030319",
- "display": "Weakness of facial musculature"
- },
- {
- "code": "HP:0008936",
- "display": "Muscular hypotonia of the trunk"
- },
- {
- "code": "HP:0030230",
- "display": "Central core regions in muscle fibers"
- },
- {
- "code": "HP:0011471",
- "display": "Gastrostomy tube feeding in infancy"
- },
- {
- "code": "HP:0001290",
- "display": "Generalized hypotonia"
- },
- {
- "code": "HP:0002421",
- "display": "Poor head control"
- },
- {
- "code": "HP:0010301",
- "display": "Spinal dysraphism"
- },
- {
- "code": "HP:0004303",
- "display": "Abnormal muscle fiber morphology"
- },
- {
- "code": "HP:0009046",
- "display": "Difficulty running"
- },
- {
- "code": "HP:0003715",
- "display": "Myofibrillar myopathy"
- },
- {
- "code": "HP:0000467",
- "display": "Neck muscle weakness"
- },
- {
- "code": "HP:0001999",
- "display": "Abnormal facial shape"
- },
- {
- "code": "HP:0002751",
- "display": "Kyphoscoliosis"
- },
- {
- "code": "HP:0030223",
- "display": "Perseveration"
- },
- {
- "code": "HP:0002344",
- "display": "Progressive neurologic deterioration"
- },
- {
- "code": "HP:0002522",
- "display": "Areflexia of lower limbs"
- },
- {
- "code": "HP:0003805",
- "display": "Rimmed vacuoles"
- },
- {
- "code": "HP:0005781",
- "display": "Contractures of the large joints"
- },
- {
- "code": "HP:0040083",
- "display": "Toe walking"
- },
- {
- "code": "HP:0003749",
- "display": "Pelvic girdle muscle weakness"
- },
- {
- "code": "HP:0012444",
- "display": "Brain atrophy"
- },
- {
- "code": "HP:0003738",
- "display": "Exercise-induced myalgia"
- },
- {
- "code": "HP:0003756",
- "display": "Skeletal myopathy"
- },
- {
- "code": "HP:0002492",
- "display": "Morphological abnormality of the corticospinal tract"
- },
- {
- "code": "HP:0100302",
- "display": "Muscle fiber tubuloreticular inclusions"
- },
- {
- "code": "HP:0006817",
- "display": "Aplasia/Hypoplasia of the cerebellar vermis"
- },
- {
- "code": "HP:0003473",
- "display": "Fatigable weakness"
- },
- {
- "code": "HP:0002077",
- "display": "Migraine with aura"
- },
- {
- "code": "HP:0100559",
- "display": "Lower limb asymmetry"
- },
- {
- "code": "HP:0002079",
- "display": "Hypoplasia of the corpus callosum"
- },
- {
- "code": "HP:0002804",
- "display": "Arthrogryposis multiplex congenita"
- },
- {
- "code": "HP:0011623",
- "display": "Muscular ventricular septal defect"
- },
- {
- "code": "HP:0002191",
- "display": "Progressive spasticity"
- },
- {
- "code": "HP:0003390",
- "display": "Sensory axonal neuropathy"
- },
- {
- "code": "HP:0006986",
- "display": "Upper limb spasticity"
- },
- {
- "code": "HP:0002464",
- "display": "Spastic dysarthria"
- },
- {
- "code": "HP:0001308",
- "display": "Tongue fasciculations"
- },
- {
- "code": "HP:0007010",
- "display": "Poor fine motor coordination"
- },
- {
- "code": "HP:0003737",
- "display": "Mitochondrial myopathy"
- },
- {
- "code": "HP:0008012",
- "display": "obsolete Congenital myopia"
- },
- {
- "code": "HP:0008872",
- "display": "Feeding difficulties in infancy"
- },
- {
- "code": "HP:0005750",
- "display": "Contractures of the joints of the lower limbs"
- },
- {
- "code": "HP:0009067",
- "display": "Progressive spinal muscular atrophy"
- },
- {
- "code": "HP:0001623",
- "display": "Breech presentation"
- },
- {
- "code": "HP:0001374",
- "display": "Congenital hip dislocation"
- },
- {
- "code": "HP:0002359",
- "display": "Frequent falls"
- },
- {
- "code": "HP:0003803",
- "display": "Type 1 muscle fiber predominance"
- },
- {
- "code": "HP:0011410",
- "display": "Caesarian section"
- },
- {
- "code": "HP:0008947",
- "display": "Infantile muscular hypotonia"
- },
- {
- "code": "HP:0100501",
- "display": "Recurrent bronchiolitis"
- },
- {
- "code": "HP:0003789",
- "display": "Minicore myopathy"
- },
- {
- "code": "HP:0000544",
- "display": "External ophthalmoplegia"
- },
- {
- "code": "HP:0001605",
- "display": "Vocal cord paralysis"
- },
- {
- "code": "HP:0003712",
- "display": "Skeletal muscle hypertrophy"
- },
- {
- "code": "HP:0012507",
- "display": "Weakness of orbicularis oculi muscle"
- },
- {
- "code": "HP:0009816",
- "display": "Lower limb undergrowth"
- },
- {
- "code": "HP:0008935",
- "display": "Generalized neonatal hypotonia"
- },
- {
- "code": "HP:0003484",
- "display": "Upper limb muscle weakness"
- },
- {
- "code": "HP:0008331",
- "display": "Elevated creatine kinase after exercise"
- },
- {
- "code": "HP:0001315",
- "display": "Reduced tendon reflexes"
- },
- {
- "code": "HP:0012473",
- "display": "Tongue atrophy"
- },
- {
- "code": "HP:0003273",
- "display": "Hip contracture"
- },
- {
- "code": "HP:0006380",
- "display": "Knee flexion contracture"
- },
- {
- "code": "HP:0003752",
- "display": "Episodic flaccid weakness"
- },
- {
- "code": "HP:0100298",
- "display": "Motheaten muscle fibers"
- },
- {
- "code": "HP:0003693",
- "display": "Distal amyotrophy"
- },
- {
- "code": "HP:0002167",
- "display": "Neurological speech impairment"
- },
- {
- "code": "HP:0003388",
- "display": "Easy fatigability"
- },
- {
- "code": "HP:0001348",
- "display": "Brisk reflexes"
- },
- {
- "code": "HP:0003445",
- "display": "EMG: neuropathic changes"
- },
- {
- "code": "HP:0009063",
- "display": "Progressive distal muscle weakness"
- },
- {
- "code": "HP:0003720",
- "display": "Generalized muscle hypertrophy"
- },
- {
- "code": "HP:0002493",
- "display": "Upper motor neuron dysfunction"
- },
- {
- "code": "HP:0012448",
- "display": "Delayed myelination"
- },
- {
- "code": "HP:0001338",
- "display": "Partial agenesis of the corpus callosum"
- },
- {
- "code": "HP:0006879",
- "display": "Pontocerebellar atrophy"
- },
- {
- "code": "HP:0200101",
- "display": "Decreased/absent ankle reflexes"
- },
- {
- "code": "HP:0009020",
- "display": "Exercise-induced muscle fatigue"
- },
- {
- "code": "HP:0002067",
- "display": "Bradykinesia"
- },
- {
- "code": "HP:0012751",
- "display": "Abnormal basal ganglia MRI signal intensity"
- },
- {
- "code": "HP:0003355",
- "display": "Aminoaciduria"
- },
- {
- "code": "HP:0012450",
- "display": "Chronic constipation"
- },
- {
- "code": "HP:0011834",
- "display": "Moyamoya phenomenon"
- },
- {
- "code": "HP:0001297",
- "display": "Stroke"
- },
- {
- "code": "HP:0200049",
- "display": "Upper limb hypertonia"
- },
- {
- "code": "HP:0008981",
- "display": "Calf muscle hypertrophy"
- },
- {
- "code": "HP:0006785",
- "display": "Limb-girdle muscular dystrophy"
- },
- {
- "code": "HP:0006957",
- "display": "Loss of ability to walk"
- },
- {
- "code": "HP:0030098",
- "display": "Reduced muscle dystrophin expression"
- },
- {
- "code": "HP:0030115",
- "display": "Reduced muscle fiber dysferlin"
- },
- {
- "code": "HP:0002058",
- "display": "Myopathic facies"
- },
- {
- "code": "HP:0007858",
- "display": "Chorioretinal lacunae"
- },
- {
- "code": "HP:0006657",
- "display": "Hypoplasia of first ribs"
- },
- {
- "code": "HP:0007165",
- "display": "Periventricular heterotopia"
- },
- {
- "code": "HP:0009779",
- "display": "3-4 toe syndactyly"
- },
- {
- "code": "HP:0010665",
- "display": "Bilateral coxa valga"
- },
- {
- "code": "HP:0007598",
- "display": "Bilateral single transverse palmar creases"
- },
- {
- "code": "HP:0006101",
- "display": "Finger syndactyly"
- },
- {
- "code": "HP:0010511",
- "display": "Long toe"
- },
- {
- "code": "HP:0002370",
- "display": "Poor coordination"
- },
- {
- "code": "HP:0000480",
- "display": "Retinal coloboma"
- },
- {
- "code": "HP:0001770",
- "display": "Toe syndactyly"
- },
- {
- "code": "HP:0010851",
- "display": "EEG with burst suppression"
- },
- {
- "code": "HP:0002791",
- "display": "Hypoventilation"
- },
- {
- "code": "HP:0040075",
- "display": "Hypopituitarism"
- },
- {
- "code": "HP:0012506",
- "display": "Small pituitary gland"
- },
- {
- "code": "HP:0000538",
- "display": "Pseudopapilledema"
- },
- {
- "code": "HP:0012717",
- "display": "Severe conductive hearing impairment"
- },
- {
- "code": "HP:0001370",
- "display": "Rheumatoid arthritis"
- },
- {
- "code": "HP:0000016",
- "display": "Urinary retention"
- },
- {
- "code": "HP:0012537",
- "display": "Food intolerance"
- },
- {
- "code": "HP:0011297",
- "display": "Abnormal digit morphology"
- },
- {
- "code": "HP:0001273",
- "display": "Abnormal corpus callosum morphology"
- },
- {
- "code": "HP:0030148",
- "display": "Heart murmur"
- },
- {
- "code": "HP:0045018",
- "display": "Partial duplication of eyebrows"
- },
- {
- "code": "HP:0008998",
- "display": "Pectoralis hypoplasia"
- },
- {
- "code": "HP:0001707",
- "display": "Abnormal right ventricle morphology"
- },
- {
- "code": "HP:0001540",
- "display": "Diastasis recti"
- },
- {
- "code": "HP:0100693",
- "display": "Iridodonesis"
- },
- {
- "code": "HP:0002265",
- "display": "Large fleshy ears"
- },
- {
- "code": "HP:0001132",
- "display": "Lens subluxation"
- },
- {
- "code": "HP:0004927",
- "display": "Pulmonary artery dilatation"
- },
- {
- "code": "HP:0005619",
- "display": "Thoracolumbar kyphosis"
- },
- {
- "code": "HP:0008619",
- "display": "Bilateral sensorineural hearing impairment"
- },
- {
- "code": "HP:0001045",
- "display": "Vitiligo"
- },
- {
- "code": "HP:0009124",
- "display": "Abnormal adipose tissue morphology"
- },
- {
- "code": "HP:0002979",
- "display": "Bowing of the legs"
- },
- {
- "code": "HP:0000455",
- "display": "Broad nasal tip"
- },
- {
- "code": "HP:0001007",
- "display": "Hirsutism"
- },
- {
- "code": "HP:0010314",
- "display": "Premature thelarche"
- },
- {
- "code": "HP:0000075",
- "display": "Renal duplication"
- },
- {
- "code": "HP:0000368",
- "display": "Low-set, posteriorly rotated ears"
- },
- {
- "code": "HP:0001052",
- "display": "Nevus flammeus"
- },
- {
- "code": "HP:0200048",
- "display": "Cyanotic episode"
- },
- {
- "code": "HP:0001902",
- "display": "Giant platelets"
- },
- {
- "code": "HP:0030043",
- "display": "Hip subluxation"
- },
- {
- "code": "HP:0002938",
- "display": "Lumbar hyperlordosis"
- },
- {
- "code": "HP:0030084",
- "display": "Clinodactyly"
- },
- {
- "code": "HP:0005560",
- "display": "Imbalanced hemoglobin synthesis"
- },
- {
- "code": "HP:0001539",
- "display": "Omphalocele"
- },
- {
- "code": "HP:0009778",
- "display": "Short thumb"
- },
- {
- "code": "HP:0002277",
- "display": "Horner syndrome"
- },
- {
- "code": "HP:0011701",
- "display": "Multifocal atrial tachycardia"
- },
- {
- "code": "HP:0005274",
- "display": "Prominent nasal tip"
- },
- {
- "code": "HP:0001262",
- "display": "Excessive daytime somnolence"
- },
- {
- "code": "HP:0001285",
- "display": "Spastic tetraparesis"
- },
- {
- "code": "HP:0012171",
- "display": "Stereotypical hand wringing"
- },
- {
- "code": "HP:0002518",
- "display": "Abnormality of the periventricular white matter"
- },
- {
- "code": "HP:0005692",
- "display": "Joint hyperflexibility"
- },
- {
- "code": "HP:0007440",
- "display": "Generalized hyperpigmentation"
- },
- {
- "code": "HP:0001805",
- "display": "Onychogryposis"
- },
- {
- "code": "HP:0011945",
- "display": "Bronchiolitis obliterans organizing pneumonia"
- },
- {
- "code": "HP:0003763",
- "display": "Bruxism"
- },
- {
- "code": "HP:0010500",
- "display": "Hyperextensibility of the knee"
- },
- {
- "code": "HP:0040115",
- "display": "Abnormality of the Eustachian tube"
- },
- {
- "code": "HP:0008751",
- "display": "Laryngeal cleft"
- },
- {
- "code": "HP:0000403",
- "display": "Recurrent otitis media"
- },
- {
- "code": "HP:0001787",
- "display": "Abnormal delivery"
- },
- {
- "code": "HP:0002571",
- "display": "Achalasia"
- },
- {
- "code": "HP:0002615",
- "display": "Hypotension"
- },
- {
- "code": "HP:0003550",
- "display": "Predominantly lower limb lymphedema"
- },
- {
- "code": "HP:0030363",
- "display": "Primary Caesarian section"
- },
- {
- "code": "HP:0001727",
- "display": "Thromboembolic stroke"
- },
- {
- "code": "HP:0100603",
- "display": "Toxemia of pregnancy"
- },
- {
- "code": "HP:0010836",
- "display": "Abnormal circulating copper concentration"
- },
- {
- "code": "HP:0000356",
- "display": "Abnormality of the outer ear"
- },
- {
- "code": "HP:0002197",
- "display": "Generalized-onset seizure"
- },
- {
- "code": "HP:0011436",
- "display": "Abnormal maternal serum screening"
- },
- {
- "code": "HP:0003517",
- "display": "Birth length greater than 97th percentile"
- },
- {
- "code": "HP:0003561",
- "display": "Birth length less than 3rd percentile"
- },
- {
- "code": "HP:0012188",
- "display": "Hyperemesis gravidarum"
- },
- {
- "code": "HP:0010519",
- "display": "Increased fetal movement"
- },
- {
- "code": "HP:0030244",
- "display": "Maternal fever in pregnancy"
- },
- {
- "code": "HP:0008071",
- "display": "Maternal hypertension"
- },
- {
- "code": "HP:0100622",
- "display": "Maternal seizure"
- },
- {
- "code": "HP:0011438",
- "display": "Maternal teratogenic exposure"
- },
- {
- "code": "HP:0001998",
- "display": "Neonatal hypoglycemia"
- },
- {
- "code": "HP:0040187",
- "display": "Neonatal sepsis"
- },
- {
- "code": "HP:0002033",
- "display": "Poor suck"
- },
- {
- "code": "HP:0006579",
- "display": "Prolonged neonatal jaundice"
- },
- {
- "code": "HP:0001724",
- "display": "obsolete Aortic dilatation"
- },
- {
- "code": "HP:0010621",
- "display": "Cutaneous syndactyly of toes"
- },
- {
- "code": "HP:0001880",
- "display": "Eosinophilia"
- },
- {
- "code": "HP:0000162",
- "display": "Glossoptosis"
- },
- {
- "code": "HP:0100578",
- "display": "Lipoatrophy"
- },
- {
- "code": "HP:0002562",
- "display": "Low-set nipples"
- },
- {
- "code": "HP:0012893",
- "display": "Neck muscle hypertrophy"
- },
- {
- "code": "HP:0001027",
- "display": "Soft, doughy skin"
- },
- {
- "code": "HP:0100738",
- "display": "Abnormal eating behavior"
- },
- {
- "code": "HP:0007328",
- "display": "Impaired pain sensation"
- },
- {
- "code": "HP:0002878",
- "display": "Respiratory failure"
- },
- {
- "code": "HP:0001776",
- "display": "Bilateral talipes equinovarus"
- },
- {
- "code": "HP:0001360",
- "display": "Holoprosencephaly"
- },
- {
- "code": "HP:0001973",
- "display": "Autoimmune thrombocytopenia"
- },
- {
- "code": "HP:0100749",
- "display": "Chest pain"
- },
- {
- "code": "HP:0012531",
- "display": "Pain"
- },
- {
- "code": "HP:0007585",
- "display": "Skin fragility with non-scarring blistering"
- },
- {
- "code": "HP:0002108",
- "display": "Spontaneous pneumothorax"
- },
- {
- "code": "HP:0006562",
- "display": "Viral hepatitis"
- },
- {
- "code": "HP:0012647",
- "display": "Abnormal inflammatory response"
- },
- {
- "code": "HP:0012088",
- "display": "Abnormal urinary odor"
- },
- {
- "code": "HP:0011458",
- "display": "Abdominal symptom"
- },
- {
- "code": "HP:0002829",
- "display": "Arthralgia"
- },
- {
- "code": "HP:0010783",
- "display": "Erythema"
- },
- {
- "code": "HP:0010307",
- "display": "Stridor"
- },
- {
- "code": "HP:0001269",
- "display": "Hemiparesis"
- },
- {
- "code": "HP:0006532",
- "display": "Recurrent pneumonia"
- },
- {
- "code": "HP:0002580",
- "display": "Volvulus"
- },
- {
- "code": "HP:0012387",
- "display": "Bronchitis"
- },
- {
- "code": "HP:0001266",
- "display": "Choreoathetosis"
- },
- {
- "code": "HP:0001531",
- "display": "Failure to thrive in infancy"
- },
- {
- "code": "HP:0011470",
- "display": "Nasogastric tube feeding in infancy"
- },
- {
- "code": "HP:0001361",
- "display": "Nystagmus-induced head nodding"
- },
- {
- "code": "HP:0001997",
- "display": "Gout"
- },
- {
- "code": "HP:0000965",
- "display": "Cutis marmorata"
- },
- {
- "code": "HP:0010316",
- "display": "Ebstein anomaly of the tricuspid valve"
- },
- {
- "code": "HP:0010543",
- "display": "Opsoclonus"
- },
- {
- "code": "HP:0007704",
- "display": "Paroxysmal involuntary eye movements"
- },
- {
- "code": "HP:0030364",
- "display": "Secondary Caesarian section"
- },
- {
- "code": "HP:0007738",
- "display": "Uncontrolled eye movements"
- },
- {
- "code": "HP:0030366",
- "display": "Delivery by Odon device"
- },
- {
- "code": "HP:0011411",
- "display": "Forceps delivery"
- },
- {
- "code": "HP:0030369",
- "display": "Induced vaginal delivery"
- },
- {
- "code": "HP:0005268",
- "display": "Spontaneous abortion"
- },
- {
- "code": "HP:0030365",
- "display": "Vaginal birth after Caesarian"
- },
- {
- "code": "HP:0011412",
- "display": "Ventouse delivery"
- },
- {
- "code": "HP:0002572",
- "display": "Episodic vomiting"
- },
- {
- "code": "HP:0030350",
- "display": "Erythematous papule"
- },
- {
- "code": "HP:0001386",
- "display": "Joint swelling"
- },
- {
- "code": "HP:0000147",
- "display": "Polycystic ovaries"
- },
- {
- "code": "HP:0012412",
- "display": "Premature adrenarche"
- },
- {
- "code": "HP:0004411",
- "display": "Deviated nasal septum"
- },
- {
- "code": "HP:0040183",
- "display": "Encopresis"
- },
- {
- "code": "HP:0100507",
- "display": "Reduced blood folate concentration"
- },
- {
- "code": "HP:0007011",
- "display": "Fourth cranial nerve palsy"
- },
- {
- "code": "HP:0000375",
- "display": "Abnormal cochlea morphology"
- },
- {
- "code": "HP:0009911",
- "display": "Abnormal temporal bone morphology"
- },
- {
- "code": "HP:0000081",
- "display": "Duplicated collecting system"
- },
- {
- "code": "HP:0006894",
- "display": "Hypoplastic olfactory lobes"
- },
- {
- "code": "HP:0011380",
- "display": "Morphological abnormality of the semicircular canal"
- },
- {
- "code": "HP:0000110",
- "display": "Renal dysplasia"
- },
- {
- "code": "HP:0030025",
- "display": "Auricular pit"
- },
- {
- "code": "HP:0010044",
- "display": "Short 4th metacarpal"
- },
- {
- "code": "HP:0010047",
- "display": "Short 5th metacarpal"
- },
- {
- "code": "HP:0000201",
- "display": "Pierre-Robin sequence"
- },
- {
- "code": "HP:0100837",
- "display": "Atrophodermia vermiculata"
- },
- {
- "code": "HP:0002673",
- "display": "Coxa valga"
- },
- {
- "code": "HP:0001476",
- "display": "Delayed closure of the anterior fontanelle"
- },
- {
- "code": "HP:0011069",
- "display": "Increased number of teeth"
- },
- {
- "code": "HP:0009879",
- "display": "Simplified gyral pattern"
- },
- {
- "code": "HP:0006315",
- "display": "Single median maxillary incisor"
- },
- {
- "code": "HP:0001194",
- "display": "Abnormalities of placenta or umbilical cord"
- },
- {
- "code": "HP:0100767",
- "display": "Abnormal placenta morphology"
- },
- {
- "code": "HP:0006543",
- "display": "Cardiorespiratory arrest"
- },
- {
- "code": "HP:0003074",
- "display": "Hyperglycemia"
- },
- {
- "code": "HP:0000842",
- "display": "Hyperinsulinemia"
- },
- {
- "code": "HP:0011951",
- "display": "Aspiration pneumonia"
- },
- {
- "code": "HP:0006528",
- "display": "Chronic lung disease"
- },
- {
- "code": "HP:0002383",
- "display": "Encephalitis"
- },
- {
- "code": "HP:0000388",
- "display": "Otitis media"
- },
- {
- "code": "HP:0002530",
- "display": "Axial dystonia"
- },
- {
- "code": "HP:0002780",
- "display": "Bronchomalacia"
- },
- {
- "code": "HP:0008755",
- "display": "Laryngotracheomalacia"
- },
- {
- "code": "HP:0000308",
- "display": "Microretrognathia"
- },
- {
- "code": "HP:0002786",
- "display": "Tracheobronchomalacia"
- },
- {
- "code": "HP:0012389",
- "display": "Appendicular hypotonia"
- },
- {
- "code": "HP:0011323",
- "display": "Cleft of chin"
- },
- {
- "code": "HP:0000417",
- "display": "Slender nose"
- },
- {
- "code": "HP:0001863",
- "display": "Toe clinodactyly"
- },
- {
- "code": "HP:0008386",
- "display": "Aplasia/Hypoplasia of the nails"
- },
- {
- "code": "HP:0006989",
- "display": "Dysplastic corpus callosum"
- },
- {
- "code": "HP:0100954",
- "display": "Open operculum"
- },
- {
- "code": "HP:0004482",
- "display": "Relative macrocephaly"
- },
- {
- "code": "HP:3000033",
- "display": "Abnormal nasopharyngeal adenoid morphology"
- },
- {
- "code": "HP:0009062",
- "display": "Infantile axial hypotonia"
- },
- {
- "code": "HP:0002189",
- "display": "obsolete Excessive daytime sleepiness"
- },
- {
- "code": "HP:0002141",
- "display": "Gait imbalance"
- },
- {
- "code": "HP:0012734",
- "display": "Ketotic hypoglycemia"
- },
- {
- "code": "HP:0005968",
- "display": "Temperature instability"
- },
- {
- "code": "HP:0012538",
- "display": "Gluten intolerance"
- },
- {
- "code": "HP:0000979",
- "display": "Purpura"
- },
- {
- "code": "HP:0001988",
- "display": "Recurrent hypoglycemia"
- },
- {
- "code": "HP:0001488",
- "display": "Bilateral ptosis"
- },
- {
- "code": "HP:0011229",
- "display": "Broad eyebrow"
- },
- {
- "code": "HP:0004440",
- "display": "Coronal craniosynostosis"
- },
- {
- "code": "HP:0004453",
- "display": "Overfolding of the superior helices"
- },
- {
- "code": "HP:0012547",
- "display": "Abnormal involuntary eye movements"
- },
- {
- "code": "HP:0100814",
- "display": "Blue nevus"
- },
- {
- "code": "HP:0010751",
- "display": "Dimple chin"
- },
- {
- "code": "HP:0007087",
- "display": "obsolete Involuntary jerking movements"
- },
- {
- "code": "HP:0012498",
- "display": "Nuchal cord"
- },
- {
- "code": "HP:0002472",
- "display": "Small cerebral cortex"
- },
- {
- "code": "HP:0100307",
- "display": "Cerebellar hemisphere hypoplasia"
- },
- {
- "code": "HP:0002151",
- "display": "Increased serum lactate"
- },
- {
- "code": "HP:0001698",
- "display": "Pericardial effusion"
- },
- {
- "code": "HP:0006903",
- "display": "Congenital peripheral neuropathy"
- },
- {
- "code": "HP:0006895",
- "display": "Lower limb hypertonia"
- },
- {
- "code": "HP:0002744",
- "display": "Bilateral cleft lip and palate"
- },
- {
- "code": "HP:0010664",
- "display": "Fusion of the left and right thalami"
- },
- {
- "code": "HP:0000327",
- "display": "Hypoplasia of the maxilla"
- },
- {
- "code": "HP:0000474",
- "display": "Thickened nuchal skin fold"
- },
- {
- "code": "HP:0000105",
- "display": "Enlarged kidney"
- },
- {
- "code": "HP:0000113",
- "display": "Polycystic kidney dysplasia"
- },
- {
- "code": "HP:0000104",
- "display": "Renal agenesis"
- },
- {
- "code": "HP:0001362",
- "display": "Calvarial skull defect"
- },
- {
- "code": "HP:0008245",
- "display": "Pituitary hypothyroidism"
- },
- {
- "code": "HP:0001552",
- "display": "Barrel-shaped chest"
- },
- {
- "code": "HP:0006297",
- "display": "Hypoplasia of dental enamel"
- },
- {
- "code": "HP:0100023",
- "display": "Recurrent hand flapping"
- },
- {
- "code": "HP:0005518",
- "display": "Increased mean corpuscular volume"
- },
- {
- "code": "HP:0012418",
- "display": "Hypoxemia"
- },
- {
- "code": "HP:0100259",
- "display": "Postaxial polydactyly"
- },
- {
- "code": "HP:0010814",
- "display": "Abnormal position of hair whorl"
- },
- {
- "code": "HP:0003764",
- "display": "Nevus"
- },
- {
- "code": "HP:0000445",
- "display": "Wide nose"
- },
- {
- "code": "HP:0010677",
- "display": "Enuresis nocturna"
- },
- {
- "code": "HP:0001510",
- "display": "Growth delay"
- },
- {
- "code": "HP:0012428",
- "display": "Prominent calcaneus"
- },
- {
- "code": "HP:0012471",
- "display": "Thick vermilion border"
- },
- {
- "code": "HP:0007110",
- "display": "Central hypoventilation"
- },
- {
- "code": "HP:0010614",
- "display": "Fibroma"
- },
- {
- "code": "HP:0001034",
- "display": "Hypermelanotic macule"
- },
- {
- "code": "HP:0011365",
- "display": "Patchy hypopigmentation of hair"
- },
- {
- "code": "HP:0001920",
- "display": "Renal artery stenosis"
- },
- {
- "code": "HP:0002828",
- "display": "Multiple joint contractures"
- },
- {
- "code": "HP:0002144",
- "display": "Tethered cord"
- },
- {
- "code": "HP:0010964",
- "display": "Abnormal circulating long-chain fatty-acid concentration"
- },
- {
- "code": "HP:0010536",
- "display": "Central sleep apnea"
- },
- {
- "code": "HP:0011262",
- "display": "Crimped helix"
- },
- {
- "code": "HP:0040079",
- "display": "Irregular dentition"
- },
- {
- "code": "HP:0011481",
- "display": "Abnormal lacrimal duct morphology"
- },
- {
- "code": "HP:0000220",
- "display": "Velopharyngeal insufficiency"
- },
- {
- "code": "HP:0002153",
- "display": "Hyperkalemia"
- },
- {
- "code": "HP:0002148",
- "display": "Hypophosphatemia"
- },
- {
- "code": "HP:0012621",
- "display": "Persistent cloaca"
- },
- {
- "code": "HP:0000867",
- "display": "Secondary hyperparathyroidism"
- },
- {
- "code": "HP:0003762",
- "display": "Uterus didelphys"
- },
- {
- "code": "HP:0100512",
- "display": "Low levels of vitamin D"
- },
- {
- "code": "HP:0012156",
- "display": "Hemophagocytosis"
- },
- {
- "code": "HP:0008209",
- "display": "Premature ovarian insufficiency"
- },
- {
- "code": "HP:0004349",
- "display": "Reduced bone mineral density"
- },
- {
- "code": "HP:0001924",
- "display": "Sideroblastic anemia"
- },
- {
- "code": "HP:0011703",
- "display": "Sinus tachycardia"
- },
- {
- "code": "HP:0010609",
- "display": "Skin tags"
- },
- {
- "code": "HP:0002725",
- "display": "Systemic lupus erythematosus"
- },
- {
- "code": "HP:0003193",
- "display": "Allergic rhinitis"
- },
- {
- "code": "HP:0006896",
- "display": "Hypnopompic hallucinations"
- },
- {
- "code": "HP:0002524",
- "display": "Cataplexy"
- },
- {
- "code": "HP:0005227",
- "display": "Adenomatous colonic polyposis"
- },
- {
- "code": "HP:0012173",
- "display": "Orthostatic tachycardia"
- },
- {
- "code": "HP:0001271",
- "display": "Polyneuropathy"
- },
- {
- "code": "HP:0009120",
- "display": "Aplasia/Hypoplasia involving the sinuses"
- },
- {
- "code": "HP:0000625",
- "display": "Eyelid coloboma"
- },
- {
- "code": "HP:0009754",
- "display": "Fibrous syngnathia"
- },
- {
- "code": "HP:0012478",
- "display": "Temporomandibular joint ankylosis"
- },
- {
- "code": "HP:0001233",
- "display": "2-3 finger syndactyly"
- },
- {
- "code": "HP:0000811",
- "display": "Abnormal external genitalia"
- },
- {
- "code": "HP:0005120",
- "display": "Abnormal cardiac atrium morphology"
- },
- {
- "code": "HP:0008388",
- "display": "Abnormal toenail morphology"
- },
- {
- "code": "HP:0011467",
- "display": "Absent gallbladder"
- },
- {
- "code": "HP:0010760",
- "display": "Absent toe"
- },
- {
- "code": "HP:0001545",
- "display": "Anteriorly placed anus"
- },
- {
- "code": "HP:0001640",
- "display": "Cardiomegaly"
- },
- {
- "code": "HP:0002990",
- "display": "Fibular aplasia"
- },
- {
- "code": "HP:0004443",
- "display": "Lambdoidal craniosynostosis"
- },
- {
- "code": "HP:0008569",
- "display": "Microtia, second degree"
- },
- {
- "code": "HP:0006277",
- "display": "Pancreatic hyperplasia"
- },
- {
- "code": "HP:0010445",
- "display": "Primum atrial septal defect"
- },
- {
- "code": "HP:0011640",
- "display": "Single coronary artery origin"
- },
- {
- "code": "HP:0011608",
- "display": "Type II truncus arteriosus"
- },
- {
- "code": "HP:0011327",
- "display": "Posterior plagiocephaly"
- },
- {
- "code": "HP:0007655",
- "display": "Eversion of lateral third of lower eyelids"
- },
- {
- "code": "HP:0010747",
- "display": "Medial flaring of the eyebrow"
- },
- {
- "code": "HP:0005957",
- "display": "Breathing dysregulation"
- },
- {
- "code": "HP:0000992",
- "display": "Cutaneous photosensitivity"
- },
- {
- "code": "HP:0011995",
- "display": "Atrial septal dilatation"
- },
- {
- "code": "HP:0000377",
- "display": "Abnormality of the pinna"
- },
- {
- "code": "HP:0011266",
- "display": "Microtia, first degree"
- },
- {
- "code": "HP:0012650",
- "display": "Perisylvian polymicrogyria"
- },
- {
- "code": "HP:0004970",
- "display": "Ascending tubular aorta aneurysm"
- },
- {
- "code": "HP:0008348",
- "display": "Decreased circulating IgG2 level"
- },
- {
- "code": "HP:0012115",
- "display": "Hepatitis"
- },
- {
- "code": "HP:0006979",
- "display": "Sleep-wake cycle disturbance"
- },
- {
- "code": "HP:0008587",
- "display": "Mild neurosensory hearing impairment"
- },
- {
- "code": "HP:0006097",
- "display": "3-4 finger syndactyly"
- },
- {
- "code": "HP:0005263",
- "display": "Gastritis"
- },
- {
- "code": "HP:0200043",
- "display": "Verrucae"
- },
- {
- "code": "HP:0009600",
- "display": "Flexion contracture of thumb"
- },
- {
- "code": "HP:0010818",
- "display": "Generalized tonic seizure"
- },
- {
- "code": "HP:0002599",
- "display": "Head titubation"
- },
- {
- "code": "HP:0002090",
- "display": "Pneumonia"
- },
- {
- "code": "HP:0030423",
- "display": "Splenic cyst"
- },
- {
- "code": "HP:0030187",
- "display": "Titubation"
- },
- {
- "code": "HP:0002375",
- "display": "Hypokinesia"
- },
- {
- "code": "HP:0007166",
- "display": "Paroxysmal dyskinesia"
- },
- {
- "code": "HP:0003077",
- "display": "Hyperlipidemia"
- },
- {
- "code": "HP:0000017",
- "display": "Nocturia"
- },
- {
- "code": "HP:0100555",
- "display": "Asymmetric growth"
- },
- {
- "code": "HP:0011847",
- "display": "Giant cell tumor of bone"
- },
- {
- "code": "HP:0000112",
- "display": "Nephropathy"
- },
- {
- "code": "HP:0000246",
- "display": "Sinusitis"
- },
- {
- "code": "HP:0001012",
- "display": "Multiple lipomas"
- },
- {
- "code": "HP:0000851",
- "display": "Congenital hypothyroidism"
- },
- {
- "code": "HP:0002345",
- "display": "Action tremor"
- },
- {
- "code": "HP:0002677",
- "display": "Small foramen magnum"
- },
- {
- "code": "HP:0011947",
- "display": "Respiratory tract infection"
- },
- {
- "code": "HP:0012151",
- "display": "Hemothorax"
- },
- {
- "code": "HP:0005988",
- "display": "Congenital muscular torticollis"
- },
- {
- "code": "HP:0002329",
- "display": "Drowsiness"
- },
- {
- "code": "HP:0012395",
- "display": "Seasonal allergy"
- },
- {
- "code": "HP:0011679",
- "display": "Tetralogy of Fallot with pulmonary stenosis"
- },
- {
- "code": "HP:0001864",
- "display": "Clinodactyly of the 5th toe"
- },
- {
- "code": "HP:0006934",
- "display": "Congenital nystagmus"
- },
- {
- "code": "HP:0100355",
- "display": "Contractures of the distal interphalangeal joint of the 5th toe"
- },
- {
- "code": "HP:0007894",
- "display": "Hypopigmentation of the fundus"
- },
- {
- "code": "HP:0012377",
- "display": "Hemianopia"
- },
- {
- "code": "HP:0002354",
- "display": "Memory impairment"
- },
- {
- "code": "HP:0000872",
- "display": "Hashimoto thyroiditis"
- },
- {
- "code": "HP:0002519",
- "display": "Hypnagogic hallucinations"
- },
- {
- "code": "HP:0010647",
- "display": "Abnormal elasticity of skin"
- },
- {
- "code": "HP:0002592",
- "display": "Gastric ulcer"
- },
- {
- "code": "HP:0004938",
- "display": "Tortuous cerebral arteries"
- },
- {
- "code": "HP:0004948",
- "display": "Vascular tortuosity"
- },
- {
- "code": "HP:0002516",
- "display": "Increased intracranial pressure"
- },
- {
- "code": "HP:0006460",
- "display": "Increased laxity of ankles"
- },
- {
- "code": "HP:0002317",
- "display": "Unsteady gait"
- },
- {
- "code": "HP:0000182",
- "display": "Movement abnormality of the tongue"
- },
- {
- "code": "HP:0009887",
- "display": "Abnormality of hair pigmentation"
- },
- {
- "code": "HP:0005824",
- "display": "Clinodactyly of the 2nd toe"
- },
- {
- "code": "HP:0002212",
- "display": "Curly hair"
- },
- {
- "code": "HP:0009803",
- "display": "Short phalanx of finger"
- },
- {
- "code": "HP:0000572",
- "display": "Visual loss"
- },
- {
- "code": "HP:0005216",
- "display": "Impaired mastication"
- },
- {
- "code": "HP:0000619",
- "display": "Impaired convergence"
- },
- {
- "code": "HP:0002403",
- "display": "Positive Romberg sign"
- },
- {
- "code": "HP:0008744",
- "display": "Abnormal aryepiglottic fold morphology"
- },
- {
- "code": "HP:0002374",
- "display": "Diminished movement"
- },
- {
- "code": "HP:0008277",
- "display": "Abnormal blood zinc concentration"
- },
- {
- "code": "HP:0012781",
- "display": "Mid-frequency hearing loss"
- },
- {
- "code": "HP:0100758",
- "display": "Gangrene"
- },
- {
- "code": "HP:0003256",
- "display": "Abnormality of the coagulation cascade"
- },
- {
- "code": "HP:0004387",
- "display": "Enterocolitis"
- },
- {
- "code": "HP:0011029",
- "display": "Internal hemorrhage"
- },
- {
- "code": "HP:0011649",
- "display": "Patent ductus arteriosus after premature birth"
- },
- {
- "code": "HP:0012050",
- "display": "Anasarca"
- },
- {
- "code": "HP:0001683",
- "display": "Ectopia cordis"
- },
- {
- "code": "HP:0011682",
- "display": "Perimembranous ventricular septal defect"
- },
- {
- "code": "HP:0010624",
- "display": "Aplastic/hypoplastic toenail"
- },
- {
- "code": "HP:0002705",
- "display": "High, narrow palate"
- },
- {
- "code": "HP:0011340",
- "display": "Incomplete cleft of the upper lip"
- },
- {
- "code": "HP:0011613",
- "display": "Interrupted aortic arch type B"
- },
- {
- "code": "HP:0006167",
- "display": "Prominent proximal interphalangeal joints"
- },
- {
- "code": "HP:0002918",
- "display": "Hypermagnesemia"
- },
- {
- "code": "HP:0011937",
- "display": "Hypoplastic fifth toenail"
- },
- {
- "code": "HP:0001067",
- "display": "Neurofibromas"
- },
- {
- "code": "HP:0011403",
- "display": "Abnormal umbilical cord blood vessels"
- },
- {
- "code": "HP:0003316",
- "display": "Butterfly vertebrae"
- },
- {
- "code": "HP:0002247",
- "display": "Duodenal atresia"
- },
- {
- "code": "HP:0008439",
- "display": "Lumbar hemivertebrae"
- },
- {
- "code": "HP:0011599",
- "display": "Mesocardia"
- },
- {
- "code": "HP:0008467",
- "display": "Thoracic hemivertebrae"
- },
- {
- "code": "HP:0004626",
- "display": "Lumbar scoliosis"
- },
- {
- "code": "HP:0006808",
- "display": "Cerebral hypomyelination"
- },
- {
- "code": "HP:0002926",
- "display": "Abnormality of thyroid physiology"
- },
- {
- "code": "HP:0007970",
- "display": "Congenital ptosis"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "hpo",
+ "text" : {
+ "status" : "generated",
+ "div" : "Properties
Code | Type | Description |
parent | code | Parent codes. |
imported | boolean | Indicates if the concept is imported from another code system. |
root | boolean | Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent) |
deprecated | boolean | Indicates if this concept is deprecated. |
Filters
Code | Description | operator | Value |
root | | = | True or false. |
deprecated | | = | True or false. |
imported | | = | True or false |
This code system http://purl.obolibrary.org/obo/hp.owl
defines many codes, of which the following are a subset:
Code | Display |
HP:0000365 | Hearing impairment |
HP:0002564 | obsolete Malformation of the heart and great vessels |
HP:0001028 | Hemangioma |
HP:0000476 | Cystic hygroma |
HP:0000568 | Microphthalmia |
HP:0000518 | Cataract |
HP:0000612 | Iris coloboma |
HP:0000567 | Chorioretinal coloboma |
HP:0000316 | Hypertelorism |
HP:0000482 | Microcornea |
HP:0000588 | Optic nerve coloboma |
HP:0004426 | Abnormality of the cheek |
HP:0009125 | Lipodystrophy |
HP:0002023 | Anal atresia |
HP:0003468 | Abnormal vertebral morphology |
HP:0000545 | Myopia |
HP:0000122 | Unilateral renal agenesis |
HP:0002143 | Abnormality of the spinal cord |
HP:0003508 | Proportionate short stature |
HP:0000271 | Abnormality of the face |
HP:0000637 | Long palpebral fissure |
HP:0000492 | Abnormal eyelid morphology |
HP:0000389 | Chronic otitis media |
HP:0000400 | Macrotia |
HP:0000405 | Conductive hearing impairment |
HP:0012712 | Mild hearing impairment |
HP:0005280 | Depressed nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000319 | Smooth philtrum |
HP:0000175 | Cleft palate |
HP:0001611 | Nasal speech |
HP:0002099 | Asthma |
HP:0001397 | Hepatic steatosis |
HP:0001081 | Cholelithiasis |
HP:0002650 | Scoliosis |
HP:0001212 | Prominent fingertip pads |
HP:0001328 | Specific learning disability |
HP:0000824 | Growth hormone deficiency |
HP:0002607 | Bowel incontinence |
HP:0100731 | Transverse facial cleft |
HP:0000528 | Anophthalmia |
HP:0000601 | Hypotelorism |
HP:0000369 | Low-set ears |
HP:0001274 | Agenesis of corpus callosum |
HP:0002084 | Encephalocele |
HP:0007033 | Cerebellar dysplasia |
HP:0100336 | Bilateral cleft lip |
HP:0100337 | Bilateral cleft palate |
HP:0001511 | Intrauterine growth retardation |
HP:0011451 | Congenital microcephaly |
HP:0000324 | Facial asymmetry |
HP:0000581 | Blepharophimosis |
HP:0000508 | Ptosis |
HP:0008551 | Microtia |
HP:0001631 | Atrial septal defect |
HP:0000085 | Horseshoe kidney |
HP:0011927 | Short digit |
HP:0001156 | Brachydactyly |
HP:0002066 | Gait ataxia |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001562 | Oligohydramnios |
HP:0001195 | Single umbilical artery |
HP:0006349 | Agenesis of permanent teeth |
HP:0000668 | Hypodontia |
HP:0000677 | Oligodontia |
HP:0001252 | Muscular hypotonia |
HP:0003429 | CNS hypomyelination |
HP:0010864 | Intellectual disability, severe |
HP:0004325 | Decreased body weight |
HP:0000666 | Horizontal nystagmus |
HP:0000218 | High palate |
HP:0010809 | Broad uvula |
HP:0000767 | Pectus excavatum |
HP:0003691 | Scapular winging |
HP:0002616 | Aortic root aneurysm |
HP:0001601 | Laryngomalacia |
HP:0002021 | Pyloric stenosis |
HP:0001388 | Joint laxity |
HP:0001187 | Hyperextensibility of the finger joints |
HP:0000741 | Apathy |
HP:0000817 | Poor eye contact |
HP:0000821 | Hypothyroidism |
HP:0000002 | Abnormality of body height |
HP:0000079 | Abnormality of the urinary system |
HP:0000164 | Abnormality of the dentition |
HP:0000364 | Hearing abnormality |
HP:0000366 | Abnormality of the nose |
HP:0000464 | Abnormality of the neck |
HP:0000707 | Abnormality of the nervous system |
HP:0000708 | Behavioral abnormality |
HP:0000769 | Abnormality of the breast |
HP:0000772 | Abnormality of the ribs |
HP:0000775 | Abnormality of the diaphragm |
HP:0000889 | Abnormality of the clavicle |
HP:0000925 | Abnormality of the vertebral column |
HP:0001080 | Biliary tract abnormality |
HP:0001392 | Abnormality of the liver |
HP:0001438 | Abnormal abdomen morphology |
HP:0001608 | Abnormality of the voice |
HP:0001627 | Abnormal heart morphology |
HP:0001732 | Abnormality of the pancreas |
HP:0001739 | Abnormality of the nasopharynx |
HP:0001743 | Abnormality of the spleen |
HP:0001760 | Abnormal foot morphology |
HP:0001871 | Abnormality of blood and blood-forming tissues |
HP:0002031 | Abnormal esophagus morphology |
HP:0002244 | Abnormality of the small intestine |
HP:0002246 | Abnormality of the duodenum |
HP:0002250 | Abnormal large intestine morphology |
HP:0002644 | Abnormality of pelvic girdle bone morphology |
HP:0002664 | Neoplasm |
HP:0002715 | Abnormality of the immune system |
HP:0002814 | Abnormality of the lower limb |
HP:0002817 | Abnormality of the upper limb |
HP:0005483 | Abnormal epiglottis morphology |
HP:0008777 | Abnormal vocal cord morphology |
HP:0011844 | Abnormal appendicular skeleton morphology |
HP:0012732 | Anorectal anomaly |
HP:0001508 | Failure to thrive |
HP:0002902 | Hyponatremia |
HP:0012236 | Elevated sweat chloride |
HP:0000347 | Micrognathia |
HP:0000926 | Platyspondyly |
HP:0001371 | Flexion contracture |
HP:0001875 | Neutropenia |
HP:0001888 | Lymphopenia |
HP:0002857 | Genu valgum |
HP:0002986 | Radial bowing |
HP:0003015 | Flared metaphysis |
HP:0003025 | Metaphyseal irregularity |
HP:0003097 | Short femur |
HP:0003300 | Ovoid vertebral bodies |
HP:0003307 | Hyperlordosis |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004322 | Short stature |
HP:0005792 | Short humerus |
HP:0006248 | Limited wrist movement |
HP:0000944 | Abnormality of the metaphysis |
HP:0011921 | Exudative pleural effusion |
HP:0003043 | Abnormality of the shoulder |
HP:0000290 | Abnormality of the forehead |
HP:0005288 | Abnormality of the nares |
HP:0000234 | Abnormality of the head |
HP:0004323 | Abnormality of body weight |
HP:0000483 | Astigmatism |
HP:0011003 | High myopia |
HP:0000470 | Short neck |
HP:0030044 | Flexion contracture of digit |
HP:0100871 | Abnormality of the palm |
HP:0004334 | Dermal atrophy |
HP:0001845 | Overlapping toe |
HP:0000496 | Abnormality of eye movement |
HP:0001780 | Abnormality of toe |
HP:0001626 | Abnormality of the cardiovascular system |
HP:0002086 | Abnormality of the respiratory system |
HP:0000818 | Abnormality of the endocrine system |
HP:0012372 | Abnormal eye morphology |
HP:0009473 | Joint contracture of the hand |
HP:0003199 | Decreased muscle mass |
HP:0003202 | Skeletal muscle atrophy |
HP:0003551 | Difficulty climbing stairs |
HP:0002355 | Difficulty walking |
HP:0003546 | Exercise intolerance |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003701 | Proximal muscle weakness |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0007340 | Lower limb muscle weakness |
HP:0002168 | Scanning speech |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0003477 | Peripheral axonal neuropathy |
HP:0000924 | Abnormality of the skeletal system |
HP:0001291 | Abnormal cranial nerve morphology |
HP:0003687 | Centrally nucleated skeletal muscle fibers |
HP:0001324 | Muscle weakness |
HP:0002515 | Waddling gait |
HP:0100280 | Crohn's disease |
HP:0002631 | obsolete Dilatation of ascending aorta |
HP:0100026 | Arteriovenous malformation |
HP:0002637 | Cerebral ischemia |
HP:0002619 | Varicose veins |
HP:0001159 | Syndactyly |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0000977 | Soft skin |
HP:0010648 | Dermal translucency |
HP:0000978 | Bruising susceptibility |
HP:0001956 | Truncal obesity |
HP:0000189 | Narrow palate |
HP:0000678 | Dental crowding |
HP:0002870 | Obstructive sleep apnea |
HP:0001763 | Pes planus |
HP:0000782 | Abnormality of the scapula |
HP:0001600 | Abnormality of the larynx |
HP:0002088 | Abnormal lung morphology |
HP:0011407 | Proportionate tall stature |
HP:0000541 | Retinal detachment |
HP:0001373 | Joint dislocation |
HP:0000938 | Osteopenia |
HP:0002942 | Thoracic kyphosis |
HP:0001840 | Metatarsus adductus |
HP:0001844 | Abnormality of the hallux |
HP:0001765 | Hammertoe |
HP:0000606 | Abnormality of the periorbital region |
HP:0002757 | Recurrent fractures |
HP:0000647 | Sclerocornea |
HP:0001166 | Arachnodactyly |
HP:0005490 | Postnatal macrocephaly |
HP:0011363 | Abnormality of hair growth rate |
HP:0000276 | Long face |
HP:0000275 | Narrow face |
HP:0000337 | Broad forehead |
HP:0002267 | Exaggerated startle response |
HP:0002187 | Intellectual disability, profound |
HP:0000728 | Impaired ability to form peer relationships |
HP:0000733 | Stereotypy |
HP:0000739 | Anxiety |
HP:0000929 | Abnormal skull morphology |
HP:0001965 | Abnormal scalp morphology |
HP:0100538 | Abnormality of the supraorbital ridges |
HP:0000309 | Abnormality of the midface |
HP:0000277 | Abnormality of the mandible |
HP:0000765 | Abnormality of the thorax |
HP:0100008 | Schwannoma |
HP:0030038 | Enchondroma |
HP:0100777 | Exostoses |
HP:0011663 | Right ventricular cardiomyopathy |
HP:0011675 | Arrhythmia |
HP:0001962 | Palpitations |
HP:0001279 | Syncope |
HP:0004756 | Ventricular tachycardia |
HP:0000252 | Microcephaly |
HP:0000303 | Mandibular prognathia |
HP:0000664 | Synophrys |
HP:0001609 | Hoarse voice |
HP:0002558 | Supernumerary nipple |
HP:0001634 | Mitral valve prolapse |
HP:0000028 | Cryptorchidism |
HP:0000973 | Cutis laxa |
HP:0001518 | Small for gestational age |
HP:0000527 | Long eyelashes |
HP:0002808 | Kyphosis |
HP:0000248 | Brachycephaly |
HP:0000505 | Visual impairment |
HP:0000512 | Abnormal electroretinogram |
HP:0000517 | Abnormality of the lens |
HP:0000529 | Progressive visual loss |
HP:0000586 | Shallow orbits |
HP:0000603 | Central scotoma |
HP:0000939 | Osteoporosis |
HP:0001377 | Limited elbow extension |
HP:0001387 | Joint stiffness |
HP:0001822 | Hallux valgus |
HP:0002657 | Spondylometaphyseal dysplasia |
HP:0003026 | Short long bone |
HP:0006462 | Generalized bone demineralization |
HP:0008873 | Disproportionate short-limb short stature |
HP:0008905 | Rhizomelia |
HP:0008922 | Childhood-onset short-trunk short stature |
HP:0200020 | Corneal erosion |
HP:0001172 | Abnormal thumb morphology |
HP:0002286 | Fair hair |
HP:0010719 | Abnormality of hair texture |
HP:0010720 | Abnormal hair pattern |
HP:0001635 | Congestive heart failure |
HP:0001644 | Dilated cardiomyopathy |
HP:0001663 | Ventricular fibrillation |
HP:0011712 | Right bundle branch block |
HP:0000272 | Malar flattening |
HP:0000286 | Epicanthus |
HP:0000322 | Short philtrum |
HP:0000463 | Anteverted nares |
HP:0000494 | Downslanted palpebral fissures |
HP:0000543 | Optic disc pallor |
HP:0000699 | Diastema |
HP:0000773 | Short ribs |
HP:0000887 | Cupped ribs |
HP:0000946 | Hypoplastic ilia |
HP:0000954 | Single transverse palmar crease |
HP:0001182 | Tapered finger |
HP:0001537 | Umbilical hernia |
HP:0002007 | Frontal bossing |
HP:0002980 | Femoral bowing |
HP:0002982 | Tibial bowing |
HP:0003021 | Metaphyseal cupping |
HP:0005011 | Mesomelic arm shortening |
HP:0008803 | obsolete Narrow sacroiliac notch |
HP:0009117 | Aplasia/Hypoplasia of the maxilla |
HP:0011220 | Prominent forehead |
HP:0012801 | Narrow jaw |
HP:0000243 | Trigonocephaly |
HP:0000358 | Posteriorly rotated ears |
HP:0000411 | Protruding ear |
HP:0000646 | Amblyopia |
HP:0002812 | Coxa vara |
HP:0002970 | Genu varum |
HP:0012775 | Stellate iris |
HP:0000278 | Retrognathia |
HP:0009796 | Branchial cyst |
HP:0002474 | Expressive language delay |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0003198 | Myopathy |
HP:0003324 | Generalized muscle weakness |
HP:0003552 | Muscle stiffness |
HP:0003554 | Type 2 muscle fiber atrophy |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0009025 | Increased connective tissue |
HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
HP:0002597 | Abnormality of the vasculature |
HP:0001649 | Tachycardia |
HP:0001638 | Cardiomyopathy |
HP:0001654 | Abnormal heart valve morphology |
HP:0001671 | Abnormal cardiac septum morphology |
HP:0000103 | Polyuria |
HP:0000114 | Proximal tubulopathy |
HP:0001878 | Hemolytic anemia |
HP:0001931 | Hypochromic anemia |
HP:0001935 | Microcytic anemia |
HP:0001959 | Polydipsia |
HP:0001994 | Renal Fanconi syndrome |
HP:0002134 | Abnormality of the basal ganglia |
HP:0002188 | Delayed CNS myelination |
HP:0002908 | Conjugated hyperbilirubinemia |
HP:0003774 | Stage 5 chronic kidney disease |
HP:0010700 | obsolete Total cataract |
HP:0000193 | Bifid uvula |
HP:0000219 | Thin upper lip vermilion |
HP:0000426 | Prominent nasal bridge |
HP:0000452 | Choanal stenosis |
HP:0000490 | Deeply set eye |
HP:0000540 | Hypermetropia |
HP:0000579 | Nasolacrimal duct obstruction |
HP:0000684 | Delayed eruption of teeth |
HP:0000960 | Sacral dimple |
HP:0000998 | Hypertrichosis |
HP:0001643 | Patent ductus arteriosus |
HP:0010813 | Abnormal number of hair whorls |
HP:0012384 | Rhinitis |
HP:0012745 | Short palpebral fissure |
HP:0000359 | Abnormality of the inner ear |
HP:0000429 | Abnormality of the nasal alae |
HP:0000436 | Abnormality of the nasal tip |
HP:0000499 | Abnormal eyelash morphology |
HP:0000534 | Abnormal eyebrow morphology |
HP:0000951 | Abnormality of the skin |
HP:0001000 | Abnormality of skin pigmentation |
HP:0001597 | Abnormality of the nail |
HP:0006483 | Abnormal number of teeth |
HP:0009929 | Abnormality of the columella |
HP:0011119 | Abnormality of the nasal dorsum |
HP:0012808 | Abnormal nasal base |
HP:0100490 | Camptodactyly of finger |
HP:0000964 | Eczema |
HP:0004442 | Sagittal craniosynostosis |
HP:0000414 | Bulbous nose |
HP:0003180 | Flat acetabular roof |
HP:0000422 | Abnormality of the nasal bridge |
HP:0000614 | Abnormal nasolacrimal system morphology |
HP:0001167 | Abnormality of finger |
HP:0001595 | Abnormal hair morphology |
HP:0012373 | Abnormal eye physiology |
HP:0001655 | Patent foramen ovale |
HP:0001647 | Bicuspid aortic valve |
HP:0000574 | Thick eyebrow |
HP:0001169 | Broad palm |
HP:0006471 | Fixed elbow flexion |
HP:0008689 | Bilateral cryptorchidism |
HP:0011304 | Broad thumb |
HP:0005110 | Atrial fibrillation |
HP:0001633 | Abnormal mitral valve morphology |
HP:0001641 | Abnormal pulmonary valve morphology |
HP:0001702 | Abnormal tricuspid valve morphology |
HP:0000012 | Urinary urgency |
HP:0000020 | Urinary incontinence |
HP:0000131 | Uterine leiomyoma |
HP:0000132 | Menorrhagia |
HP:0000138 | Ovarian cyst |
HP:0000853 | Goiter |
HP:0000953 | Hyperpigmentation of the skin |
HP:0001061 | Acne |
HP:0002315 | Headache |
HP:0004324 | Increased body weight |
HP:0000069 | Abnormality of the ureter |
HP:0000077 | Abnormality of the kidney |
HP:0000759 | Abnormal peripheral nervous system morphology |
HP:0008069 | Neoplasm of the skin |
HP:0011276 | Vascular skin abnormality |
HP:0000705 | Amelogenesis imperfecta |
HP:0001256 | Intellectual disability, mild |
HP:0000325 | Triangular face |
HP:0000160 | Narrow mouth |
HP:0009487 | Ulnar deviation of the hand |
HP:0001249 | Intellectual disability |
HP:0008064 | Ichthyosis |
HP:0000311 | Round face |
HP:0001653 | Mitral regurgitation |
HP:0001771 | Achilles tendon contracture |
HP:0012032 | Lipoma |
HP:0012368 | Flat face |
HP:0030053 | Stiff skin |
HP:0011124 | Abnormality of epidermal morphology |
HP:0011097 | Epileptic spasm |
HP:0000407 | Sensorineural hearing impairment |
HP:0000331 | Short chin |
HP:0000340 | Sloping forehead |
HP:0000486 | Strabismus |
HP:0000713 | Agitation |
HP:0000802 | Impotence |
HP:0001272 | Cerebellar atrophy |
HP:0001276 | Hypertonia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001322 | obsolete Brain very small |
HP:0002061 | Lower limb spasticity |
HP:0002529 | Neuronal loss in central nervous system |
HP:0002540 | Inability to walk |
HP:0005484 | Postnatal microcephaly |
HP:0012850 | Small intestinal dysmotility |
HP:0000504 | Abnormality of vision |
HP:0002118 | Abnormality of the cerebral ventricles |
HP:0002363 | Abnormality of brainstem morphology |
HP:0010651 | Abnormal meningeal morphology |
HP:0100024 | Conspicuously happy disposition |
HP:0002538 | Abnormality of the cerebral cortex |
HP:0000054 | Micropenis |
HP:0000215 | Thick upper lip vermilion |
HP:0000293 | Full cheeks |
HP:0000349 | Widow's peak |
HP:0000444 | Convex nasal ridge |
HP:0000506 | Telecanthus |
HP:0000592 | Blue sclerae |
HP:0000691 | Microdontia |
HP:0000698 | Conical tooth |
HP:0002000 | Short columella |
HP:0002097 | Emphysema |
HP:0002209 | Sparse scalp hair |
HP:0002816 | Genu recurvatum |
HP:0005116 | Arterial tortuosity |
HP:0007957 | Corneal opacity |
HP:0008070 | Sparse hair |
HP:0009623 | Proximal placement of thumb |
HP:0010055 | Broad hallux |
HP:0011318 | Bicoronal synostosis |
HP:0011968 | Feeding difficulties |
HP:0200067 | Recurrent spontaneous abortion |
HP:0011819 | Submucous cleft soft palate |
HP:0000268 | Dolichocephaly |
HP:0003302 | Spondylolisthesis |
HP:0000582 | Upslanted palpebral fissure |
HP:0000952 | Jaundice |
HP:0001298 | Encephalopathy |
HP:0001396 | Cholestasis |
HP:0002059 | Cerebral atrophy |
HP:0002171 | Gliosis |
HP:0002240 | Hepatomegaly |
HP:0002353 | EEG abnormality |
HP:0002446 | Astrocytosis |
HP:0003287 | Abnormality of mitochondrial metabolism |
HP:0011449 | Knee clonus |
HP:0012852 | Hepatic bridging fibrosis |
HP:0100626 | Chronic hepatic failure |
HP:0000385 | Small earlobe |
HP:0009748 | Large earlobe |
HP:0000157 | Abnormality of the tongue |
HP:0000172 | Abnormality of the uvula |
HP:0000174 | Abnormal palate morphology |
HP:0000306 | Abnormality of the chin |
HP:0004408 | Abnormality of the sense of smell |
HP:0009912 | Abnormality of the tragus |
HP:0000537 | Epicanthus inversus |
HP:0000565 | Esotropia |
HP:0000752 | Hyperactivity |
HP:0003186 | Inverted nipples |
HP:0012503 | Abnormality of the pituitary gland |
HP:0100710 | Impulsivity |
HP:0000357 | Abnormal location of ears |
HP:0000820 | Abnormality of the thyroid gland |
HP:0000828 | Abnormality of the parathyroid gland |
HP:0000834 | Abnormality of the adrenal glands |
HP:0012093 | Abnormality of endocrine pancreas physiology |
HP:0000269 | Prominent occiput |
HP:0000535 | Sparse and thin eyebrow |
HP:0000639 | Nystagmus |
HP:0000718 | Aggressive behavior |
HP:0000957 | Cafe-au-lait spot |
HP:0000256 | Macrocephaly |
HP:0000750 | Delayed speech and language development |
HP:0000963 | Thin skin |
HP:0001260 | Dysarthria |
HP:0002194 | Delayed gross motor development |
HP:0003196 | Short nose |
HP:0001155 | Abnormality of the hand |
HP:0100022 | Abnormality of movement |
HP:0010862 | Delayed fine motor development |
HP:0000343 | Long philtrum |
HP:0000717 | Autism |
HP:0001883 | Talipes |
HP:0002553 | Highly arched eyebrow |
HP:0007488 | Diffuse skin atrophy |
HP:0000822 | Hypertension |
HP:0001278 | Orthostatic hypotension |
HP:0001944 | Dehydration |
HP:0001945 | Fever |
HP:0002019 | Constipation |
HP:0002020 | Gastroesophageal reflux |
HP:0002027 | Abdominal pain |
HP:0002718 | Recurrent bacterial infections |
HP:0002841 | Recurrent fungal infections |
HP:0004395 | Malnutrition |
HP:0009830 | Peripheral neuropathy |
HP:0000126 | Hydronephrosis |
HP:0000519 | Developmental cataract |
HP:0000648 | Optic atrophy |
HP:0001053 | Hypopigmented skin patches |
HP:0001087 | Developmental glaucoma |
HP:0002119 | Ventriculomegaly |
HP:0002280 | Enlarged cisterna magna |
HP:0003298 | Spina bifida occulta |
HP:0004467 | Preauricular pit |
HP:0008511 | Central posterior corneal opacity |
HP:0010780 | Hyperacusis |
HP:0030048 | Colpocephaly |
HP:0100335 | Non-midline cleft lip |
HP:0000525 | Abnormality iris morphology |
HP:0002719 | Recurrent infections |
HP:0000153 | Abnormality of the mouth |
HP:0001903 | Anemia |
HP:0002094 | Dyspnea |
HP:0002206 | Pulmonary fibrosis |
HP:0002789 | Tachypnea |
HP:0002793 | Abnormal pattern of respiration |
HP:0003565 | Elevated erythrocyte sedimentation rate |
HP:0006517 | Intraalveolar phospholipid accumulation |
HP:0006530 | Interstitial pulmonary abnormality |
HP:0100759 | Clubbing of fingers |
HP:0002103 | Abnormal pleura morphology |
HP:0001596 | Alopecia |
HP:0001882 | Leukopenia |
HP:0002013 | Vomiting |
HP:0002028 | Chronic diarrhea |
HP:0002573 | Hematochezia |
HP:0002960 | Autoimmunity |
HP:0005387 | Combined immunodeficiency |
HP:0011109 | Chronic sinusitis |
HP:0004429 | Recurrent viral infections |
HP:0000280 | Coarse facial features |
HP:0000294 | Low anterior hairline |
HP:0000577 | Exotropia |
HP:0001873 | Thrombocytopenia |
HP:0002011 | Morphological central nervous system abnormality |
HP:0006610 | Wide intermamillary distance |
HP:0011231 | Prominent eyelashes |
HP:0012718 | Morphological abnormality of the gastrointestinal tract |
HP:0002024 | Malabsorption |
HP:0001394 | Cirrhosis |
HP:0001414 | Microvesicular hepatic steatosis |
HP:0001403 | Macrovesicular hepatic steatosis |
HP:0001410 | Decreased liver function |
HP:0001409 | Portal hypertension |
HP:0001744 | Splenomegaly |
HP:0003394 | Muscle spasm |
HP:0003750 | Increased muscle fatiguability |
HP:0002123 | Generalized myoclonic seizure |
HP:0002219 | Facial hypertrichosis |
HP:0000831 | Insulin-resistant diabetes mellitus |
HP:0001891 | Iron deficiency anemia |
HP:0001264 | Spastic diplegia |
HP:0002313 | Spastic paraparesis |
HP:0001347 | Hyperreflexia |
HP:0002460 | Distal muscle weakness |
HP:0000763 | Sensory neuropathy |
HP:0001268 | Mental deterioration |
HP:0002169 | Clonus |
HP:0001332 | Dystonia |
HP:0100716 | Self-injurious behavior |
HP:0000602 | Ophthalmoplegia |
HP:0001251 | Ataxia |
HP:0000776 | Congenital diaphragmatic hernia |
HP:0000410 | Mixed hearing impairment |
HP:0000510 | Rod-cone dystrophy |
HP:0004437 | Cranial hyperostosis |
HP:0011001 | Increased bone mineral density |
HP:0000956 | Acanthosis nigricans |
HP:0000958 | Dry skin |
HP:0000580 | Pigmentary retinopathy |
HP:0000649 | Abnormality of visual evoked potentials |
HP:0000657 | Oculomotor apraxia |
HP:0000479 | Abnormal retinal morphology |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001533 | Slender build |
HP:0001629 | Ventricular septal defect |
HP:0000703 | Dentinogenesis imperfecta |
HP:0000914 | Shield chest |
HP:0001500 | Broad finger |
HP:0003086 | Acromesomelia |
HP:0003416 | Spinal canal stenosis |
HP:0002815 | Abnormality of the knee |
HP:0002992 | Abnormality of tibia morphology |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0003236 | Elevated serum creatine kinase |
HP:0001369 | Arthritis |
HP:0003560 | Muscular dystrophy |
HP:0003974 | Absent radius |
HP:0002818 | Abnormality of the radius |
HP:0001561 | Polyhydramnios |
HP:0002299 | Brittle hair |
HP:0002208 | Coarse hair |
HP:0002213 | Fine hair |
HP:0000522 | Alacrima |
HP:0100704 | Cerebral visual impairment |
HP:0012713 | Moderate hearing impairment |
HP:0002307 | Drooling |
HP:0002714 | Downturned corners of mouth |
HP:0000191 | Accessory oral frenulum |
HP:0000158 | Macroglossia |
HP:0012020 | Right aortic arch |
HP:0002104 | Apnea |
HP:0000598 | Abnormality of the ear |
HP:0007874 | Almond-shaped palpebral fissure |
HP:0010804 | Tented upper lip vermilion |
HP:0000885 | Broad ribs |
HP:0000768 | Pectus carinatum |
HP:0001680 | Coarctation of aorta |
HP:0000687 | Widely spaced teeth |
HP:0000047 | Hypospadias |
HP:0001943 | Hypoglycemia |
HP:0012369 | Abnormality of malar bones |
HP:0009900 | Unilateral deafness |
HP:0000023 | Inguinal hernia |
HP:0000074 | Ureteropelvic junction obstruction |
HP:0001800 | Hypoplastic toenails |
HP:0001804 | Hypoplastic fingernail |
HP:0002949 | Fused cervical vertebrae |
HP:0008050 | Abnormality of the palpebral fissures |
HP:0008577 | Underfolded helix |
HP:0008589 | Hypoplastic helices |
HP:0010863 | Receptive language delay |
HP:0002282 | Gray matter heterotopia |
HP:0002085 | Occipital encephalocele |
HP:0001057 | Aplasia cutis congenita |
HP:0000211 | Trismus |
HP:0008422 | Vertebral wedging |
HP:0003170 | Abnormality of the acetabulum |
HP:0003272 | Abnormality of the hip bone |
HP:0003028 | Abnormality of the ankles |
HP:0003301 | Irregular vertebral endplates |
HP:0010508 | Metatarsus valgus |
HP:0009811 | Abnormality of the elbow |
HP:0000736 | Short attention span |
HP:0002912 | Methylmalonic acidemia |
HP:0001941 | Acidosis |
HP:0001992 | Organic aciduria |
HP:0009027 | Foot dorsiflexor weakness |
HP:0002063 | Rigidity |
HP:0000384 | Preauricular skin tag |
HP:0200046 | Cat cry |
HP:0001357 | Plagiocephaly |
HP:0000670 | Carious teeth |
HP:0011090 | Fused teeth |
HP:0012810 | Wide nasal base |
HP:0010296 | Ankyloglossia |
HP:0001636 | Tetralogy of Fallot |
HP:0001305 | Dandy-Walker malformation |
HP:0000238 | Hydrocephalus |
HP:0005469 | Flat occiput |
HP:0000270 | Delayed cranial suture closure |
HP:0000239 | Large fontanelles |
HP:0010537 | Wide cranial sutures |
HP:0002217 | Slow-growing hair |
HP:0000587 | Abnormality of the optic nerve |
HP:0005989 | Redundant neck skin |
HP:0010775 | Vascular ring |
HP:0002779 | Tracheomalacia |
HP:0002827 | Hip dislocation |
HP:0001302 | Pachygyria |
HP:0007362 | Aplasia/Hypoplasia of the brainstem |
HP:0001558 | Decreased fetal movement |
HP:0010878 | Fetal cystic hygroma |
HP:0011398 | Central hypotonia |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0000826 | Precocious puberty |
HP:0000014 | Abnormality of the bladder |
HP:0005037 | Proximal radio-ulnar synostosis |
HP:0100543 | Cognitive impairment |
HP:0000481 | Abnormal cornea morphology |
HP:0000076 | Vesicoureteral reflux |
HP:0000297 | Facial hypotonia |
HP:0000391 | Thickened helices |
HP:0001162 | Postaxial hand polydactyly |
HP:0001385 | Hip dysplasia |
HP:0002342 | Intellectual disability, moderate |
HP:0003191 | Cleft ala nasi |
HP:0009765 | Low hanging columella |
HP:0010297 | Bifid tongue |
HP:0011330 | Metopic synostosis |
HP:0012804 | Corneal ulceration |
HP:0010485 | Hyperextensibility at elbow |
HP:0000609 | Optic nerve hypoplasia |
HP:0001176 | Large hands |
HP:0004233 | Advanced ossification of carpal bones |
HP:0100842 | Septo-optic dysplasia |
HP:0002034 | Abnormality of the rectum |
HP:0002283 | Global brain atrophy |
HP:0003115 | Abnormal EKG |
HP:0002577 | Abnormal stomach morphology |
HP:0002539 | Cortical dysplasia |
HP:0006818 | 4-layered lissencephaly |
HP:0000593 | Abnormal anterior chamber morphology |
HP:0000179 | Thick lower lip vermilion |
HP:0002002 | Deep philtrum |
HP:0009931 | Enlarged naris |
HP:0002948 | Vertebral fusion |
HP:0002937 | Hemivertebrae |
HP:0002308 | Arnold-Chiari malformation |
HP:0011320 | Unilambdoid synostosis |
HP:0002781 | Upper airway obstruction |
HP:0001363 | Craniosynostosis |
HP:0000204 | Cleft upper lip |
HP:0001738 | Exocrine pancreatic insufficiency |
HP:0002823 | Abnormality of femur morphology |
HP:0000823 | Delayed puberty |
HP:0100279 | Ulcerative colitis |
HP:0003834 | Shoulder dislocation |
HP:0001065 | Striae distensae |
HP:0000448 | Prominent nose |
HP:0000554 | Uveitis |
HP:0001006 | obsolete Hypotrichosis |
HP:0000501 | Glaucoma |
HP:0000262 | Turricephaly |
HP:0000729 | Autistic behavior |
HP:0010800 | Absent cupid's bow |
HP:0010808 | Protruding tongue |
HP:0009927 | Aplasia of the nose |
HP:0100539 | Periorbital edema |
HP:0000629 | Periorbital fullness |
HP:0000178 | Abnormality of lower lip |
HP:0000168 | Abnormality of the gingiva |
HP:0001022 | Albinism |
HP:0000177 | Abnormality of upper lip |
HP:0001337 | Tremor |
HP:0002135 | Basal ganglia calcification |
HP:0002352 | Leukoencephalopathy |
HP:0002514 | Cerebral calcification |
HP:0010576 | Intracranial cystic lesion |
HP:0001622 | Premature birth |
HP:0002415 | Leukodystrophy |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001773 | Short foot |
HP:0002750 | Delayed skeletal maturation |
HP:0004415 | Pulmonary artery stenosis |
HP:0012741 | Unilateral cryptorchidism |
HP:0000036 | Abnormality of the penis |
HP:0002408 | Cerebral arteriovenous malformation |
HP:0007457 | Prominent veins on trunk |
HP:0000378 | Cupped ear |
HP:0000396 | Overfolded helix |
HP:0000035 | Abnormal testis morphology |
HP:0009895 | Abnormality of the crus of the helix |
HP:0000034 | Hydrocele testis |
HP:0000722 | Obsessive-compulsive behavior |
HP:0000845 | Growth hormone excess |
HP:0100829 | Galactorrhea |
HP:0001578 | Increased circulating cortisol level |
HP:0000786 | Primary amenorrhea |
HP:0001701 | Pericarditis |
HP:0002076 | Migraine |
HP:0004755 | Supraventricular tachycardia |
HP:0010522 | Dyslexia |
HP:0004313 | Decreased circulating antibody level |
HP:0000011 | Neurogenic bladder |
HP:0000641 | Dysmetric saccades |
HP:0007772 | Impaired smooth pursuit |
HP:0001583 | Rotary nystagmus |
HP:0010544 | Vertical nystagmus |
HP:0012735 | Cough |
HP:0002075 | Dysdiadochokinesis |
HP:0007256 | Abnormal pyramidal sign |
HP:0001257 | Spasticity |
HP:0002321 | Vertigo |
HP:0002384 | Focal impaired awareness seizure |
HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
HP:0002326 | Transient ischemic attack |
HP:0005584 | Renal cell carcinoma |
HP:0003124 | Hypercholesterolemia |
HP:0003002 | Breast carcinoma |
HP:0004953 | obsolete Dilatation of abdominal aorta |
HP:0004944 | Dilatation of the cerebral artery |
HP:0000100 | Nephrotic syndrome |
HP:0002783 | Recurrent lower respiratory tract infections |
HP:0003470 | Paralysis |
HP:0006597 | Diaphragmatic paralysis |
HP:0008151 | Prolonged prothrombin time |
HP:0010628 | Facial palsy |
HP:0011892 | Low levels of vitamin K |
HP:0001075 | Atrophic scars |
HP:0001816 | Thin nail |
HP:0002216 | Premature graying of hair |
HP:0003401 | Paresthesia |
HP:0100134 | Abnormality of the axillary hair |
HP:0100797 | Toenail dysplasia |
HP:0010461 | Abnormality of the male genitalia |
HP:0000044 | Hypogonadotropic hypogonadism |
HP:0100568 | Neoplasm of the endocrine system |
HP:0001646 | Abnormal aortic valve morphology |
HP:0000813 | Bicornuate uterus |
HP:0004380 | Aortic valve calcification |
HP:0001650 | Aortic valve stenosis |
HP:0000073 | Ureteral duplication |
HP:0100651 | Type I diabetes mellitus |
HP:0000819 | Diabetes mellitus |
HP:0000573 | Retinal hemorrhage |
HP:0005264 | Abnormality of the gallbladder |
HP:0000475 | Broad neck |
HP:0000089 | Renal hypoplasia |
HP:0000921 | Missing ribs |
HP:0001789 | Hydrops fetalis |
HP:0002089 | Pulmonary hypoplasia |
HP:0003422 | Vertebral segmentation defect |
HP:0002323 | Anencephaly |
HP:0000341 | Narrow forehead |
HP:0002869 | Flared iliac wings |
HP:0003100 | Slender long bone |
HP:0003275 | Narrow pelvis bone |
HP:0009891 | Underdeveloped supraorbital ridges |
HP:0011039 | Abnormality of the helix |
HP:0008572 | External ear malformation |
HP:0009738 | Abnormality of the antihelix |
HP:0011328 | Abnormality of fontanelles |
HP:0012155 | Decreased corneal sensation |
HP:0004602 | Cervical C2/C3 vertebral fusion |
HP:0002997 | Abnormality of the ulna |
HP:0009777 | Absent thumb |
HP:0002893 | Pituitary adenoma |
HP:0040278 | Prolactinoma |
HP:0001555 | Asymmetry of the thorax |
HP:0000902 | Rib fusion |
HP:0002164 | Nail dysplasia |
HP:0011314 | Abnormality of long bone morphology |
HP:0002867 | Abnormality of the ilium |
HP:0000774 | Narrow chest |
HP:0006482 | Abnormality of dental morphology |
HP:0004383 | Hypoplastic left heart |
HP:0002015 | Dysphagia |
HP:0500093 | Food allergy |
HP:0001519 | Disproportionate tall stature |
HP:0003179 | Protrusio acetabuli |
HP:0007385 | Aplasia cutis congenita of scalp |
HP:0000716 | Depressivity |
HP:0012583 | Unilateral renal hypoplasia |
HP:0000618 | Blindness |
HP:0001004 | Lymphedema |
HP:0002652 | Skeletal dysplasia |
HP:0012520 | Perivascular spaces |
HP:0005293 | Venous insufficiency |
HP:0012432 | Chronic fatigue |
HP:0002578 | Gastroparesis |
HP:0001658 | Myocardial infarction |
HP:0001802 | Absent toenail |
HP:0001821 | Broad nail |
HP:0000807 | Glandular hypospadias |
HP:0100582 | Nasal polyposis |
HP:0002653 | Bone pain |
HP:0001073 | Cigarette-paper scars |
HP:0031913 | Rhombencephalosynapsis |
HP:0002617 | Dilatation |
HP:0005107 | Abnormal sacrum morphology |
HP:0002025 | Anal stenosis |
HP:0009099 | Median cleft palate |
HP:0003212 | Increased circulating IgE level |
HP:0001319 | Neonatal hypotonia |
HP:0002659 | Increased susceptibility to fractures |
HP:0025246 | Trichilemmal cyst |
HP:0002107 | Pneumothorax |
HP:0000107 | Renal cyst |
HP:0001025 | Urticaria |
HP:0002204 | Pulmonary embolism |
HP:0001058 | Poor wound healing |
HP:0003010 | Prolonged bleeding time |
HP:0100502 | Vitamin B12 deficiency |
HP:0100510 | Low levels of vitamin C |
HP:0030976 | Abnormal factor VIII activity |
HP:0100789 | Torus palatinus |
HP:0000108 | Renal corticomedullary cysts |
HP:0000072 | Hydroureter |
HP:0000019 | Urinary hesitancy |
HP:0100771 | Hypoperistalsis |
HP:0000021 | Megacystis |
HP:0004388 | Microcolon |
HP:0005247 | Hypoplasia of the abdominal wall musculature |
HP:0004794 | Malrotation of small bowel |
HP:0000045 | Abnormality of the scrotum |
HP:0002236 | Frontal upsweep of hair |
HP:0000212 | Gingival overgrowth |
HP:0001808 | Fragile nails |
HP:0000225 | Gingival bleeding |
HP:0006009 | Broad phalanx |
HP:0001837 | Broad toe |
HP:0001946 | Ketosis |
HP:0002490 | Increased CSF lactate |
HP:0002922 | Increased CSF protein |
HP:0003128 | Lactic acidosis |
HP:0003111 | Abnormal blood ion concentration |
HP:0032234 | Increased circulating creatine kinase MM isoform |
HP:0003348 | Hyperalaninemia |
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0000326 | Abnormality of the maxilla |
HP:0010758 | Abnormality of the premaxilla |
HP:0005681 | Juvenile rheumatoid arthritis |
HP:0000514 | Slow saccadic eye movements |
HP:0002788 | Recurrent upper respiratory tract infections |
HP:0003396 | Syringomyelia |
HP:0003011 | Abnormality of the musculature |
HP:0002098 | Respiratory distress |
HP:0002018 | Nausea |
HP:0002014 | Diarrhea |
HP:0025168 | Left ventricular diastolic dysfunction |
HP:0001679 | Abnormal aortic morphology |
HP:0000159 | Abnormal lip morphology |
HP:0011338 | Abnormality of mouth shape |
HP:0000478 | Abnormality of the eye |
HP:0000154 | Wide mouth |
HP:0001513 | Obesity |
HP:0002475 | Myelomeningocele |
HP:0003765 | Psoriasiform dermatitis |
HP:0010289 | Cleft of alveolar ridge of maxilla |
HP:0003908 | Corner fracture of metaphysis |
HP:0002190 | Choroid plexus cyst |
HP:0004370 | Abnormality of temperature regulation |
HP:0011611 | Interrupted aortic arch |
HP:0000737 | Irritability |
HP:0001344 | Absent speech |
HP:0002376 | Developmental regression |
HP:0002140 | Ischemic stroke |
HP:0001287 | Meningitis |
HP:0002721 | Immunodeficiency |
HP:0000041 | Chordee |
HP:0012854 | Midshaft hypospadias |
HP:0000808 | Penoscrotal hypospadias |
HP:0000048 | Bifid scrotum |
HP:0001047 | Atopic dermatitis |
HP:0001621 | Weak voice |
HP:0002372 | Normal interictal EEG |
HP:0012803 | Anisometropia |
HP:0011386 | Narrow internal auditory canal |
HP:0012714 | Severe hearing impairment |
HP:0006485 | Agenesis of incisor |
HP:0000787 | Nephrolithiasis |
HP:0011332 | Hemifacial hypoplasia |
HP:0001909 | Leukemia |
HP:0004808 | Acute myeloid leukemia |
HP:0006495 | Aplasia/Hypoplasia of the ulna |
HP:0001180 | Hand oligodactyly |
HP:0002991 | Abnormality of fibula morphology |
HP:0001849 | Foot oligodactyly |
HP:0006507 | Aplasia/hypoplasia of the humerus |
HP:0005613 | Aplasia/hypoplasia of the femur |
HP:0006492 | Aplasia/Hypoplasia of the fibula |
HP:0000098 | Tall stature |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0005752 | Flattened moderately deformed vertebrae |
HP:0030039 | Fused thoracic vertebrae |
HP:0003304 | Spondylolysis |
HP:0001659 | Aortic regurgitation |
HP:0002984 | Hypoplasia of the radius |
HP:0009944 | Partial duplication of thumb phalanx |
HP:0005819 | Short middle phalanx of finger |
HP:0002110 | Bronchiectasis |
HP:0001677 | Coronary artery atherosclerosis |
HP:0001737 | Pancreatic cysts |
HP:0005113 | Aortic arch aneurysm |
HP:0003022 | Hypoplasia of the ulna |
HP:0002205 | Recurrent respiratory infections |
HP:0001669 | Transposition of the great arteries |
HP:0001716 | Wolff-Parkinson-White syndrome |
HP:0002758 | Osteoarthritis |
HP:0002037 | Inflammation of the large intestine |
HP:0009892 | Anotia |
HP:0011331 | Hemifacial atrophy |
HP:0009118 | Aplasia/Hypoplasia of the mandible |
HP:0009940 | Asymmetry of the mandible |
HP:0000682 | Abnormality of dental enamel |
HP:0009908 | Anterior creases of earlobe |
HP:0001541 | Ascites |
HP:0006687 | Aortic tortuosity |
HP:0010535 | Sleep apnea |
HP:0100633 | Esophagitis |
HP:0002105 | Hemoptysis |
HP:0002613 | Biliary cirrhosis |
HP:0004469 | Chronic bronchitis |
HP:0002720 | Decreased circulating IgA level |
HP:0002904 | Hyperbilirubinemia |
HP:0003237 | Increased circulating IgG level |
HP:0003262 | Smooth muscle antibody positivity |
HP:0011227 | Elevated C-reactive protein level |
HP:0001852 | Sandal gap |
HP:0004381 | Supravalvular aortic stenosis |
HP:0100700 | Abnormal arachnoid mater morphology |
HP:0002624 | Abnormal venous morphology |
HP:0002289 | Alopecia universalis |
HP:0009588 | Vestibular Schwannoma |
HP:0001648 | Cor pulmonale |
HP:0002091 | Restrictive ventilatory defect |
HP:0002092 | Pulmonary arterial hypertension |
HP:0002113 | Pulmonary infiltrates |
HP:0003138 | Increased blood urea nitrogen |
HP:0003259 | Elevated serum creatinine |
HP:0005180 | Tricuspid regurgitation |
HP:0012585 | Renal atrophy |
HP:0005133 | Right ventricular dilatation |
HP:0005575 | Hemolytic-uremic syndrome |
HP:0001697 | Abnormal pericardium morphology |
HP:0012486 | Myelitis |
HP:0002385 | Paraparesis |
HP:0006706 | Cystic liver disease |
HP:0010880 | Increased nuchal translucency |
HP:0000457 | Depressed nasal ridge |
HP:0002263 | Exaggerated cupid's bow |
HP:0002500 | Abnormality of the cerebral white matter |
HP:0002835 | Aspiration |
HP:0000600 | Abnormality of the pharynx |
HP:0004327 | Abnormal vitreous humor morphology |
HP:0004378 | Abnormality of the anus |
HP:0012374 | obsolete Abnormal globe morphology |
HP:0100768 | Choriocarcinoma |
HP:0030991 | Sclerosing cholangitis |
HP:0006510 | Chronic pulmonary obstruction |
HP:0000710 | Hyperorality |
HP:0001270 | Motor delay |
HP:0001548 | Overgrowth |
HP:0002311 | Incoordination |
HP:0006288 | Advanced eruption of teeth |
HP:0006323 | Premature loss of primary teeth |
HP:0009890 | High anterior hairline |
HP:0100034 | Motor tics |
HP:0100035 | Phonic tics |
HP:0000348 | High forehead |
HP:0001520 | Large for gestational age |
HP:0001239 | Wrist flexion contracture |
HP:0007359 | Focal-onset seizure |
HP:0000430 | Underdeveloped nasal alae |
HP:0007400 | Irregular hyperpigmentation |
HP:0100495 | Mastocytosis |
HP:0012378 | Fatigue |
HP:0002046 | Heat intolerance |
HP:0003270 | Abdominal distention |
HP:0002180 | Neurodegeneration |
HP:0003493 | Antinuclear antibody positivity |
HP:0030057 | Autoimmune antibody positivity |
HP:0006802 | Abnormal anterior horn cell morphology |
HP:0000064 | Hypoplastic labia minora |
HP:0000338 | Hypomimic face |
HP:0001642 | Pulmonic stenosis |
HP:0011344 | Severe global developmental delay |
HP:0200007 | Abnormal size of the palpebral fissures |
HP:0004464 | Postauricular pit |
HP:0000130 | Abnormality of the uterus |
HP:0000137 | Abnormality of the ovary |
HP:0000142 | Abnormal vagina morphology |
HP:0000370 | Abnormality of the middle ear |
HP:0011787 | Central hypothyroidism |
HP:0000274 | Small face |
HP:0000446 | Narrow nasal bridge |
HP:0000622 | Blurred vision |
HP:0001245 | Small thenar eminence |
HP:0009601 | Aplasia/Hypoplasia of the thumb |
HP:0011343 | Moderate global developmental delay |
HP:0000419 | Abnormality of the nasal septum |
HP:0000502 | Abnormal conjunctiva morphology |
HP:0000591 | Abnormal sclera morphology |
HP:0000615 | Abnormal pupil morphology |
HP:0001163 | Abnormality of the metacarpal bones |
HP:0001832 | Abnormal metatarsal morphology |
HP:0001850 | Abnormality of the tarsal bones |
HP:0010490 | Abnormality of the palmar creases |
HP:0010881 | Abnormality of the umbilical cord |
HP:0009113 | Diaphragmatic weakness |
HP:0011664 | Left ventricular noncompaction cardiomyopathy |
HP:0100240 | Synostosis of joints |
HP:0001838 | Rocker bottom foot |
HP:0003717 | Minimal subcutaneous fat |
HP:0001339 | Lissencephaly |
HP:0001591 | Bell-shaped thorax |
HP:0002655 | Spondyloepiphyseal dysplasia |
HP:0002983 | Micromelia |
HP:0003016 | Metaphyseal widening |
HP:0009826 | Limb undergrowth |
HP:0004488 | Macrocephaly at birth |
HP:0001695 | Cardiac arrest |
HP:0001712 | Left ventricular hypertrophy |
HP:0100775 | Dural ectasia |
HP:0000846 | Adrenal insufficiency |
HP:0002925 | Increased thyroid-stimulating hormone level |
HP:0100646 | Thyroiditis |
HP:0000836 | Hyperthyroidism |
HP:0004414 | Abnormality of the pulmonary artery |
HP:0000465 | Webbed neck |
HP:0000723 | Restrictive behavior |
HP:0002253 | Colonic diverticula |
HP:0001310 | Dysmetria |
HP:0000093 | Proteinuria |
HP:0002907 | Microscopic hematuria |
HP:0003073 | Hypoalbuminemia |
HP:0004315 | Decreased circulating IgG level |
HP:0000795 | Abnormality of the urethra |
HP:0001015 | Prominent superficial veins |
HP:0004691 | 2-3 toe syndactyly |
HP:0005328 | Progeroid facial appearance |
HP:0005487 | Prominent metopic ridge |
HP:0007552 | Abnormal subcutaneous fat tissue distribution |
HP:0100678 | Premature skin wrinkling |
HP:0031137 | Storage in hepatocytes |
HP:0002521 | Hypsarrhythmia |
HP:0005390 | Recurrent opportunistic infections |
HP:0002716 | Lymphadenopathy |
HP:0005379 | obsolete Severe T lymphocytopenia |
HP:0004432 | Agammaglobulinemia |
HP:0006695 | Atrioventricular canal defect |
HP:0001733 | Pancreatitis |
HP:0002350 | Cerebellar cyst |
HP:0012110 | Hypoplasia of the pons |
HP:0001948 | Alkalosis |
HP:0003113 | Hypochloremia |
HP:0003155 | Elevated alkaline phosphatase |
HP:0003542 | Increased serum pyruvate |
HP:0000421 | Epistaxis |
HP:0200136 | Oral-pharyngeal dysphagia |
HP:0000805 | Enuresis |
HP:0005616 | Accelerated skeletal maturation |
HP:0002459 | obsolete Dysautonomia |
HP:0007302 | Bipolar affective disorder |
HP:0100602 | Preeclampsia |
HP:0100508 | Abnormality of vitamin metabolism |
HP:0001140 | Limbal dermoid |
HP:0000143 | Rectovaginal fistula |
HP:0001746 | Asplenia |
HP:0012715 | Profound hearing impairment |
HP:0001748 | Polysplenia |
HP:0003072 | Hypercalcemia |
HP:0002905 | Hyperphosphatemia |
HP:0002901 | Hypocalcemia |
HP:0001367 | Abnormal joint morphology |
HP:0010562 | Keloids |
HP:0004430 | Severe combined immunodeficiency |
HP:0000003 | Multicystic kidney dysplasia |
HP:0010980 | Hyperlipoproteinemia |
HP:0002155 | Hypertriglyceridemia |
HP:0000520 | Proptosis |
HP:0000180 | Lobulated tongue |
HP:0005486 | Small fontanelle |
HP:0000891 | Cervical ribs |
HP:0002557 | Hypoplastic nipples |
HP:0009112 | Aplasia of the left hemidiaphragm |
HP:0001719 | Double outlet right ventricle |
HP:0001682 | Subvalvular aortic stenosis |
HP:0001667 | Right ventricular hypertrophy |
HP:0002101 | Abnormal lung lobation |
HP:0002202 | Pleural effusion |
HP:0002566 | Intestinal malrotation |
HP:0004510 | Pancreatic islet-cell hyperplasia |
HP:0001747 | Accessory spleen |
HP:0002181 | Cerebral edema |
HP:0000967 | Petechiae |
HP:0009702 | Carpal synostosis |
HP:0000927 | Abnormality of skeletal maturation |
HP:0004348 | Abnormality of bone mineral density |
HP:0003019 | Abnormality of the wrist |
HP:0003063 | Abnormality of the humerus |
HP:0001059 | Pterygium |
HP:0001528 | Hemihypertrophy |
HP:0011228 | Horizontal eyebrow |
HP:0000766 | Abnormality of the sternum |
HP:0001254 | Lethargy |
HP:0002360 | Sleep disturbance |
HP:0001063 | Acrocyanosis |
HP:0001769 | Broad foot |
HP:0010280 | Stomatitis |
HP:0001288 | Gait disturbance |
HP:0008330 | Reduced von Willebrand factor activity |
HP:0001954 | Recurrent fever |
HP:0004311 | Abnormal macrophage morphology |
HP:0012539 | Non-Hodgkin lymphoma |
HP:0002074 | Increased neuronal autofluorescent lipopigment |
HP:0002973 | Abnormality of the forearm |
HP:0003203 | Impaired oxidative burst |
HP:0003027 | Mesomelia |
HP:0002754 | Osteomyelitis |
HP:0004431 | Complement deficiency |
HP:0001258 | Spastic paraplegia |
HP:0012811 | Wide nasal ridge |
HP:0011832 | Narrow nasal tip |
HP:0000288 | Abnormality of the philtrum |
HP:0002357 | Dysphasia |
HP:0000871 | Panhypopituitarism |
HP:0000233 | Thin vermilion border |
HP:0003281 | Increased serum ferritin |
HP:0010752 | Cleft mandible |
HP:0000437 | Depressed nasal tip |
HP:0000453 | Choanal atresia |
HP:0000863 | Central diabetes insipidus |
HP:0000058 | Abnormality of the labia |
HP:0007418 | Alopecia totalis |
HP:0100765 | Abnormality of the tonsils |
HP:0100747 | Macrodactyly of toe |
HP:0002109 | obsolete Abnormality of the bronchi |
HP:0011950 | Bronchiolitis |
HP:0002850 | Decreased circulating total IgM |
HP:0001395 | Hepatic fibrosis |
HP:0010701 | Abnormal immunoglobulin level |
HP:0009928 | Thick nasal alae |
HP:0010807 | Open bite |
HP:0002126 | Polymicrogyria |
HP:0002900 | Hypokalemia |
HP:0000155 | Oral ulcer |
HP:0000135 | Hypogonadism |
HP:0100783 | Breast aplasia |
HP:0000336 | Prominent supraorbital ridges |
HP:0010557 | Overlapping fingers |
HP:0005100 | Premature birth following premature rupture of fetal membranes |
HP:0002594 | Pancreatic hypoplasia |
HP:0010109 | Short hallux |
HP:0002334 | Abnormality of the cerebellar vermis |
HP:0003326 | Myalgia |
HP:0001645 | Sudden cardiac death |
HP:0001612 | Weak cry |
HP:0001618 | Dysphonia |
HP:0001336 | Myoclonus |
HP:0001283 | Bulbar palsy |
HP:0002080 | Intention tremor |
HP:0002174 | Postural tremor |
HP:0002064 | Spastic gait |
HP:0009800 | Maternal diabetes |
HP:0001662 | Bradycardia |
HP:0006595 | Scapulohumeral synostosis |
HP:0005815 | Supernumerary ribs |
HP:0000307 | Pointed chin |
HP:0012371 | Hyperplasia of midface |
HP:0002643 | Neonatal respiratory distress |
HP:0002093 | Respiratory insufficiency |
HP:0010310 | Chylothorax |
HP:0006376 | Limited elbow flexion |
HP:0006467 | Limited shoulder movement |
HP:0010505 | Limitation of movement at ankles |
HP:0010501 | Limitation of knee mobility |
HP:0009896 | Abnormality of the antitragus |
HP:0004404 | Abnormal nipple morphology |
HP:0011957 | Abnormal pectoral muscle morphology |
HP:0000777 | Abnormality of the thymus |
HP:0000418 | Narrow nasal ridge |
HP:0001572 | Macrodontia |
HP:0002967 | Cubitus valgus |
HP:0000988 | Skin rash |
HP:0009733 | Glioma |
HP:0012452 | Restless legs |
HP:0100031 | Neoplasm of the thyroid gland |
HP:0030127 | Endometriosis |
HP:0000123 | Nephritis |
HP:0001974 | Leukocytosis |
HP:0010976 | B lymphocytopenia |
HP:0000010 | Recurrent urinary tract infections |
HP:0100807 | Long fingers |
HP:0000653 | Sparse eyelashes |
HP:0000171 | Microglossia |
HP:0002575 | Tracheoesophageal fistula |
HP:0009933 | Narrow naris |
HP:0000883 | Thin ribs |
HP:0000121 | Nephrocalcinosis |
HP:0001349 | Facial diplegia |
HP:0012037 | Pectoralis amyotrophy |
HP:0100560 | Upper limb asymmetry |
HP:0005684 | Distal arthrogryposis |
HP:0010722 | Asymmetry of the ears |
HP:0009380 | Aplasia of the fingers |
HP:0001657 | Prolonged QT interval |
HP:0002040 | Esophageal varix |
HP:0000613 | Photophobia |
HP:0000561 | Absent eyelashes |
HP:0002223 | Absent eyebrow |
HP:0002591 | Polyphagia |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002419 | Molar tooth sign on MRI |
HP:0001010 | Hypopigmentation of the skin |
HP:0005772 | Aplasia/Hypoplasia of the tibia |
HP:0002211 | White forelock |
HP:0007126 | Proximal amyotrophy |
HP:0003798 | Nemaline bodies |
HP:0006533 | Bronchodysplasia |
HP:0003391 | Gowers sign |
HP:0000771 | Gynecomastia |
HP:0100785 | Insomnia |
HP:0010529 | Echolalia |
HP:0000363 | Abnormality of earlobe |
HP:0002612 | Congenital hepatic fibrosis |
HP:0006721 | Acute lymphoblastic leukemia |
HP:0001958 | Nonketotic hypoglycemia |
HP:0003457 | EMG abnormality |
HP:0010636 | Schizencephaly |
HP:0005266 | Intestinal polyp |
HP:0200063 | Colorectal polyposis |
HP:0001762 | Talipes equinovarus |
HP:0000056 | Abnormality of the clitoris |
HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
HP:0002072 | Chorea |
HP:0008734 | Decreased testicular size |
HP:0002136 | Broad-based gait |
HP:0010958 | Bilateral renal agenesis |
HP:0002510 | Spastic tetraplegia |
HP:0003234 | Decreased plasma carnitine |
HP:0000720 | Mood swings |
HP:0012638 | Abnormal nervous system physiology |
HP:0002803 | Congenital contracture |
HP:0000152 | Abnormality of head or neck |
HP:0004377 | Hematological neoplasm |
HP:0100006 | Neoplasm of the central nervous system |
HP:0012759 | Neurodevelopmental abnormality |
HP:0011805 | Abnormal skeletal muscle morphology |
HP:0003634 | Amyoplasia |
HP:0001507 | Growth abnormality |
HP:0001939 | Abnormality of metabolism/homeostasis |
HP:0011013 | Abnormal circulating carbohydrate concentration |
HP:0410008 | Abnormality of the peripheral nervous system |
HP:0200134 | Epileptic encephalopathy |
HP:0001881 | Abnormal leukocyte morphology |
HP:0005549 | obsolete Congenital neutropenia |
HP:0004439 | Craniofacial dysostosis |
HP:0012443 | Abnormality of brain morphology |
HP:0000202 | Oral cleft |
HP:0011842 | Abnormality of skeletal morphology |
HP:0003808 | Abnormal muscle tone |
HP:0001574 | Abnormality of the integument |
HP:0030056 | Uncombable hair |
HP:0003549 | Abnormality of connective tissue |
HP:0030875 | Abnormality of pulmonary circulation |
HP:0000118 | Phenotypic abnormality |
HP:0012469 | Infantile spasms |
HP:0032894 | Seizure precipitated by febrile infection |
HP:0100661 | Trigeminal neuralgia |
HP:0012207 | Reduced sperm motility |
HP:0000798 | Oligospermia |
HP:0012864 | Abnormal sperm morphology |
HP:0008232 | Elevated circulating follicle stimulating hormone level |
HP:0040306 | Decreased male libido |
HP:0012208 | Immotile sperm |
HP:0000027 | Azoospermia |
HP:0000870 | Increased circulating prolactin concentration |
HP:0008187 | Absence of secondary sex characteristics |
HP:0010469 | Absent testis |
HP:0011969 | Elevated circulating luteinizing hormone level |
HP:0040171 | Decreased serum testosterone level |
HP:0003251 | Male infertility |
HP:0009804 | Reduced number of teeth |
HP:0000548 | Cone/cone-rod dystrophy |
HP:0000546 | Retinal degeneration |
HP:0008002 | Abnormality of macular pigmentation |
HP:0000608 | Macular degeneration |
HP:0030611 | Retinal pigment epithelial loss on macular OCT |
HP:0001135 | Chorioretinal dystrophy |
HP:0030468 | Abnormal multifocal electroretinogram |
HP:00030532 | Visual acuity test abnormality |
HP:0007401 | Macular atrophy |
HP:0030466 | Abnormal full-field electroretinogram |
HP:007737 | Bone spicule pigmentation of the retina |
HP:0011342 | Mild global developmental delay |
HP:0030610 | Photoreceptor outer segment loss on macular OCT |
HP:0007722 | Retinal pigment epithelial atrophy |
HP:0030493 | Abnormality of foveal pigmentation |
HP:0007843 | Attenuation of retinal blood vessels |
HP:0007754 | Macular dystrophy |
HP:0011509 | Macular hyperpigmentation |
HP:0008527 | Congenital sensorineural hearing impairment |
HP:0200070 | Peripheral retinal atrophy |
HP:0007793 | Granular macular appearance |
HP:0007987 | Progressive visual field defects |
HP:0100817 | Renovascular hypertension |
HP:0007868 | obsolete Age-related macular degeneration |
HP:0030527 | Very severe constriction of peripheral visual field |
HP:0030551 | Visual acuity light perception with projection |
HP:0011505 | Cystoid macular edema |
HP:0010442 | Polydactyly |
HP:0007642 | Congenital stationary night blindness |
HP:0009073 | Progressive proximal muscle weakness |
HP:0003741 | Congenital muscular dystrophy |
HP:0100299 | Muscle fiber inclusion bodies |
HP:0003540 | Impaired platelet aggregation |
HP:0010489 | Absent palmar crease |
HP:0009824 | Upper limb undergrowth |
HP:0002395 | Lower limb hyperreflexia |
HP:0001138 | Optic neuropathy |
HP:0007103 | Hypointensity of cerebral white matter on MRI |
HP:0003458 | EMG: myopathic abnormalities |
HP:0002987 | Elbow flexion contracture |
HP:0006466 | Ankle flexion contracture |
HP:0008458 | Progressive congenital scoliosis |
HP:0000473 | Torticollis |
HP:0011800 | Midface retrusion |
HP:0000597 | Ophthalmoparesis |
HP:0005853 | Congenital foot contraction deformities |
HP:0007002 | Motor axonal neuropathy |
HP:0003327 | Axial muscle weakness |
HP:0003306 | Spinal rigidity |
HP:0002068 | Neuromuscular dysphagia |
HP:0001002 | obsolete Decreased subcutaneous fat |
HP:0002880 | obsolete Respiratory difficulties |
HP:0006829 | Severe muscular hypotonia |
HP:0011448 | Ankle clonus |
HP:0003487 | Babinski sign |
HP:0002378 | Hand tremor |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0002579 | Gastrointestinal dysmotility |
HP:0001041 | Facial erythema |
HP:0040180 | Hyperkeratosis pilaris |
HP:0001382 | Joint hypermobility |
HP:0003722 | Neck flexor weakness |
HP:0003323 | Progressive muscle weakness |
HP:0002380 | Fasciculations |
HP:0012785 | Flexion contracture of finger |
HP:0007936 | Restrictive external ophthalmoplegia |
HP:0030319 | Weakness of facial musculature |
HP:0008936 | Muscular hypotonia of the trunk |
HP:0030230 | Central core regions in muscle fibers |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0001290 | Generalized hypotonia |
HP:0002421 | Poor head control |
HP:0010301 | Spinal dysraphism |
HP:0004303 | Abnormal muscle fiber morphology |
HP:0009046 | Difficulty running |
HP:0003715 | Myofibrillar myopathy |
HP:0000467 | Neck muscle weakness |
HP:0001999 | Abnormal facial shape |
HP:0002751 | Kyphoscoliosis |
HP:0030223 | Perseveration |
HP:0002344 | Progressive neurologic deterioration |
HP:0002522 | Areflexia of lower limbs |
HP:0003805 | Rimmed vacuoles |
HP:0005781 | Contractures of the large joints |
HP:0040083 | Toe walking |
HP:0003749 | Pelvic girdle muscle weakness |
HP:0012444 | Brain atrophy |
HP:0003738 | Exercise-induced myalgia |
HP:0003756 | Skeletal myopathy |
HP:0002492 | Morphological abnormality of the corticospinal tract |
HP:0100302 | Muscle fiber tubuloreticular inclusions |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0003473 | Fatigable weakness |
HP:0002077 | Migraine with aura |
HP:0100559 | Lower limb asymmetry |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0011623 | Muscular ventricular septal defect |
HP:0002191 | Progressive spasticity |
HP:0003390 | Sensory axonal neuropathy |
HP:0006986 | Upper limb spasticity |
HP:0002464 | Spastic dysarthria |
HP:0001308 | Tongue fasciculations |
HP:0007010 | Poor fine motor coordination |
HP:0003737 | Mitochondrial myopathy |
HP:0008012 | obsolete Congenital myopia |
HP:0008872 | Feeding difficulties in infancy |
HP:0005750 | Contractures of the joints of the lower limbs |
HP:0009067 | Progressive spinal muscular atrophy |
HP:0001623 | Breech presentation |
HP:0001374 | Congenital hip dislocation |
HP:0002359 | Frequent falls |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0011410 | Caesarian section |
HP:0008947 | Infantile muscular hypotonia |
HP:0100501 | Recurrent bronchiolitis |
HP:0003789 | Minicore myopathy |
HP:0000544 | External ophthalmoplegia |
HP:0001605 | Vocal cord paralysis |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0012507 | Weakness of orbicularis oculi muscle |
HP:0009816 | Lower limb undergrowth |
HP:0008935 | Generalized neonatal hypotonia |
HP:0003484 | Upper limb muscle weakness |
HP:0008331 | Elevated creatine kinase after exercise |
HP:0001315 | Reduced tendon reflexes |
HP:0012473 | Tongue atrophy |
HP:0003273 | Hip contracture |
HP:0006380 | Knee flexion contracture |
HP:0003752 | Episodic flaccid weakness |
HP:0100298 | Motheaten muscle fibers |
HP:0003693 | Distal amyotrophy |
HP:0002167 | Neurological speech impairment |
HP:0003388 | Easy fatigability |
HP:0001348 | Brisk reflexes |
HP:0003445 | EMG: neuropathic changes |
HP:0009063 | Progressive distal muscle weakness |
HP:0003720 | Generalized muscle hypertrophy |
HP:0002493 | Upper motor neuron dysfunction |
HP:0012448 | Delayed myelination |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0006879 | Pontocerebellar atrophy |
HP:0200101 | Decreased/absent ankle reflexes |
HP:0009020 | Exercise-induced muscle fatigue |
HP:0002067 | Bradykinesia |
HP:0012751 | Abnormal basal ganglia MRI signal intensity |
HP:0003355 | Aminoaciduria |
HP:0012450 | Chronic constipation |
HP:0011834 | Moyamoya phenomenon |
HP:0001297 | Stroke |
HP:0200049 | Upper limb hypertonia |
HP:0008981 | Calf muscle hypertrophy |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0006957 | Loss of ability to walk |
HP:0030098 | Reduced muscle dystrophin expression |
HP:0030115 | Reduced muscle fiber dysferlin |
HP:0002058 | Myopathic facies |
HP:0007858 | Chorioretinal lacunae |
HP:0006657 | Hypoplasia of first ribs |
HP:0007165 | Periventricular heterotopia |
HP:0009779 | 3-4 toe syndactyly |
HP:0010665 | Bilateral coxa valga |
HP:0007598 | Bilateral single transverse palmar creases |
HP:0006101 | Finger syndactyly |
HP:0010511 | Long toe |
HP:0002370 | Poor coordination |
HP:0000480 | Retinal coloboma |
HP:0001770 | Toe syndactyly |
HP:0010851 | EEG with burst suppression |
HP:0002791 | Hypoventilation |
HP:0040075 | Hypopituitarism |
HP:0012506 | Small pituitary gland |
HP:0000538 | Pseudopapilledema |
HP:0012717 | Severe conductive hearing impairment |
HP:0001370 | Rheumatoid arthritis |
HP:0000016 | Urinary retention |
HP:0012537 | Food intolerance |
HP:0011297 | Abnormal digit morphology |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0030148 | Heart murmur |
HP:0045018 | Partial duplication of eyebrows |
HP:0008998 | Pectoralis hypoplasia |
HP:0001707 | Abnormal right ventricle morphology |
HP:0001540 | Diastasis recti |
HP:0100693 | Iridodonesis |
HP:0002265 | Large fleshy ears |
HP:0001132 | Lens subluxation |
HP:0004927 | Pulmonary artery dilatation |
HP:0005619 | Thoracolumbar kyphosis |
HP:0008619 | Bilateral sensorineural hearing impairment |
HP:0001045 | Vitiligo |
HP:0009124 | Abnormal adipose tissue morphology |
HP:0002979 | Bowing of the legs |
HP:0000455 | Broad nasal tip |
HP:0001007 | Hirsutism |
HP:0010314 | Premature thelarche |
HP:0000075 | Renal duplication |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0001052 | Nevus flammeus |
HP:0200048 | Cyanotic episode |
HP:0001902 | Giant platelets |
HP:0030043 | Hip subluxation |
HP:0002938 | Lumbar hyperlordosis |
HP:0030084 | Clinodactyly |
HP:0005560 | Imbalanced hemoglobin synthesis |
HP:0001539 | Omphalocele |
HP:0009778 | Short thumb |
HP:0002277 | Horner syndrome |
HP:0011701 | Multifocal atrial tachycardia |
HP:0005274 | Prominent nasal tip |
HP:0001262 | Excessive daytime somnolence |
HP:0001285 | Spastic tetraparesis |
HP:0012171 | Stereotypical hand wringing |
HP:0002518 | Abnormality of the periventricular white matter |
HP:0005692 | Joint hyperflexibility |
HP:0007440 | Generalized hyperpigmentation |
HP:0001805 | Onychogryposis |
HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
HP:0003763 | Bruxism |
HP:0010500 | Hyperextensibility of the knee |
HP:0040115 | Abnormality of the Eustachian tube |
HP:0008751 | Laryngeal cleft |
HP:0000403 | Recurrent otitis media |
HP:0001787 | Abnormal delivery |
HP:0002571 | Achalasia |
HP:0002615 | Hypotension |
HP:0003550 | Predominantly lower limb lymphedema |
HP:0030363 | Primary Caesarian section |
HP:0001727 | Thromboembolic stroke |
HP:0100603 | Toxemia of pregnancy |
HP:0010836 | Abnormal circulating copper concentration |
HP:0000356 | Abnormality of the outer ear |
HP:0002197 | Generalized-onset seizure |
HP:0011436 | Abnormal maternal serum screening |
HP:0003517 | Birth length greater than 97th percentile |
HP:0003561 | Birth length less than 3rd percentile |
HP:0012188 | Hyperemesis gravidarum |
HP:0010519 | Increased fetal movement |
HP:0030244 | Maternal fever in pregnancy |
HP:0008071 | Maternal hypertension |
HP:0100622 | Maternal seizure |
HP:0011438 | Maternal teratogenic exposure |
HP:0001998 | Neonatal hypoglycemia |
HP:0040187 | Neonatal sepsis |
HP:0002033 | Poor suck |
HP:0006579 | Prolonged neonatal jaundice |
HP:0001724 | obsolete Aortic dilatation |
HP:0010621 | Cutaneous syndactyly of toes |
HP:0001880 | Eosinophilia |
HP:0000162 | Glossoptosis |
HP:0100578 | Lipoatrophy |
HP:0002562 | Low-set nipples |
HP:0012893 | Neck muscle hypertrophy |
HP:0001027 | Soft, doughy skin |
HP:0100738 | Abnormal eating behavior |
HP:0007328 | Impaired pain sensation |
HP:0002878 | Respiratory failure |
HP:0001776 | Bilateral talipes equinovarus |
HP:0001360 | Holoprosencephaly |
HP:0001973 | Autoimmune thrombocytopenia |
HP:0100749 | Chest pain |
HP:0012531 | Pain |
HP:0007585 | Skin fragility with non-scarring blistering |
HP:0002108 | Spontaneous pneumothorax |
HP:0006562 | Viral hepatitis |
HP:0012647 | Abnormal inflammatory response |
HP:0012088 | Abnormal urinary odor |
HP:0011458 | Abdominal symptom |
HP:0002829 | Arthralgia |
HP:0010783 | Erythema |
HP:0010307 | Stridor |
HP:0001269 | Hemiparesis |
HP:0006532 | Recurrent pneumonia |
HP:0002580 | Volvulus |
HP:0012387 | Bronchitis |
HP:0001266 | Choreoathetosis |
HP:0001531 | Failure to thrive in infancy |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0001361 | Nystagmus-induced head nodding |
HP:0001997 | Gout |
HP:0000965 | Cutis marmorata |
HP:0010316 | Ebstein anomaly of the tricuspid valve |
HP:0010543 | Opsoclonus |
HP:0007704 | Paroxysmal involuntary eye movements |
HP:0030364 | Secondary Caesarian section |
HP:0007738 | Uncontrolled eye movements |
HP:0030366 | Delivery by Odon device |
HP:0011411 | Forceps delivery |
HP:0030369 | Induced vaginal delivery |
HP:0005268 | Spontaneous abortion |
HP:0030365 | Vaginal birth after Caesarian |
HP:0011412 | Ventouse delivery |
HP:0002572 | Episodic vomiting |
HP:0030350 | Erythematous papule |
HP:0001386 | Joint swelling |
HP:0000147 | Polycystic ovaries |
HP:0012412 | Premature adrenarche |
HP:0004411 | Deviated nasal septum |
HP:0040183 | Encopresis |
HP:0100507 | Reduced blood folate concentration |
HP:0007011 | Fourth cranial nerve palsy |
HP:0000375 | Abnormal cochlea morphology |
HP:0009911 | Abnormal temporal bone morphology |
HP:0000081 | Duplicated collecting system |
HP:0006894 | Hypoplastic olfactory lobes |
HP:0011380 | Morphological abnormality of the semicircular canal |
HP:0000110 | Renal dysplasia |
HP:0030025 | Auricular pit |
HP:0010044 | Short 4th metacarpal |
HP:0010047 | Short 5th metacarpal |
HP:0000201 | Pierre-Robin sequence |
HP:0100837 | Atrophodermia vermiculata |
HP:0002673 | Coxa valga |
HP:0001476 | Delayed closure of the anterior fontanelle |
HP:0011069 | Increased number of teeth |
HP:0009879 | Simplified gyral pattern |
HP:0006315 | Single median maxillary incisor |
HP:0001194 | Abnormalities of placenta or umbilical cord |
HP:0100767 | Abnormal placenta morphology |
HP:0006543 | Cardiorespiratory arrest |
HP:0003074 | Hyperglycemia |
HP:0000842 | Hyperinsulinemia |
HP:0011951 | Aspiration pneumonia |
HP:0006528 | Chronic lung disease |
HP:0002383 | Encephalitis |
HP:0000388 | Otitis media |
HP:0002530 | Axial dystonia |
HP:0002780 | Bronchomalacia |
HP:0008755 | Laryngotracheomalacia |
HP:0000308 | Microretrognathia |
HP:0002786 | Tracheobronchomalacia |
HP:0012389 | Appendicular hypotonia |
HP:0011323 | Cleft of chin |
HP:0000417 | Slender nose |
HP:0001863 | Toe clinodactyly |
HP:0008386 | Aplasia/Hypoplasia of the nails |
HP:0006989 | Dysplastic corpus callosum |
HP:0100954 | Open operculum |
HP:0004482 | Relative macrocephaly |
HP:3000033 | Abnormal nasopharyngeal adenoid morphology |
HP:0009062 | Infantile axial hypotonia |
HP:0002189 | obsolete Excessive daytime sleepiness |
HP:0002141 | Gait imbalance |
HP:0012734 | Ketotic hypoglycemia |
HP:0005968 | Temperature instability |
HP:0012538 | Gluten intolerance |
HP:0000979 | Purpura |
HP:0001988 | Recurrent hypoglycemia |
HP:0001488 | Bilateral ptosis |
HP:0011229 | Broad eyebrow |
HP:0004440 | Coronal craniosynostosis |
HP:0004453 | Overfolding of the superior helices |
HP:0012547 | Abnormal involuntary eye movements |
HP:0100814 | Blue nevus |
HP:0010751 | Dimple chin |
HP:0007087 | obsolete Involuntary jerking movements |
HP:0012498 | Nuchal cord |
HP:0002472 | Small cerebral cortex |
HP:0100307 | Cerebellar hemisphere hypoplasia |
HP:0002151 | Increased serum lactate |
HP:0001698 | Pericardial effusion |
HP:0006903 | Congenital peripheral neuropathy |
HP:0006895 | Lower limb hypertonia |
HP:0002744 | Bilateral cleft lip and palate |
HP:0010664 | Fusion of the left and right thalami |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000474 | Thickened nuchal skin fold |
HP:0000105 | Enlarged kidney |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000104 | Renal agenesis |
HP:0001362 | Calvarial skull defect |
HP:0008245 | Pituitary hypothyroidism |
HP:0001552 | Barrel-shaped chest |
HP:0006297 | Hypoplasia of dental enamel |
HP:0100023 | Recurrent hand flapping |
HP:0005518 | Increased mean corpuscular volume |
HP:0012418 | Hypoxemia |
HP:0100259 | Postaxial polydactyly |
HP:0010814 | Abnormal position of hair whorl |
HP:0003764 | Nevus |
HP:0000445 | Wide nose |
HP:0010677 | Enuresis nocturna |
HP:0001510 | Growth delay |
HP:0012428 | Prominent calcaneus |
HP:0012471 | Thick vermilion border |
HP:0007110 | Central hypoventilation |
HP:0010614 | Fibroma |
HP:0001034 | Hypermelanotic macule |
HP:0011365 | Patchy hypopigmentation of hair |
HP:0001920 | Renal artery stenosis |
HP:0002828 | Multiple joint contractures |
HP:0002144 | Tethered cord |
HP:0010964 | Abnormal circulating long-chain fatty-acid concentration |
HP:0010536 | Central sleep apnea |
HP:0011262 | Crimped helix |
HP:0040079 | Irregular dentition |
HP:0011481 | Abnormal lacrimal duct morphology |
HP:0000220 | Velopharyngeal insufficiency |
HP:0002153 | Hyperkalemia |
HP:0002148 | Hypophosphatemia |
HP:0012621 | Persistent cloaca |
HP:0000867 | Secondary hyperparathyroidism |
HP:0003762 | Uterus didelphys |
HP:0100512 | Low levels of vitamin D |
HP:0012156 | Hemophagocytosis |
HP:0008209 | Premature ovarian insufficiency |
HP:0004349 | Reduced bone mineral density |
HP:0001924 | Sideroblastic anemia |
HP:0011703 | Sinus tachycardia |
HP:0010609 | Skin tags |
HP:0002725 | Systemic lupus erythematosus |
HP:0003193 | Allergic rhinitis |
HP:0006896 | Hypnopompic hallucinations |
HP:0002524 | Cataplexy |
HP:0005227 | Adenomatous colonic polyposis |
HP:0012173 | Orthostatic tachycardia |
HP:0001271 | Polyneuropathy |
HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
HP:0000625 | Eyelid coloboma |
HP:0009754 | Fibrous syngnathia |
HP:0012478 | Temporomandibular joint ankylosis |
HP:0001233 | 2-3 finger syndactyly |
HP:0000811 | Abnormal external genitalia |
HP:0005120 | Abnormal cardiac atrium morphology |
HP:0008388 | Abnormal toenail morphology |
HP:0011467 | Absent gallbladder |
HP:0010760 | Absent toe |
HP:0001545 | Anteriorly placed anus |
HP:0001640 | Cardiomegaly |
HP:0002990 | Fibular aplasia |
HP:0004443 | Lambdoidal craniosynostosis |
HP:0008569 | Microtia, second degree |
HP:0006277 | Pancreatic hyperplasia |
HP:0010445 | Primum atrial septal defect |
HP:0011640 | Single coronary artery origin |
HP:0011608 | Type II truncus arteriosus |
HP:0011327 | Posterior plagiocephaly |
HP:0007655 | Eversion of lateral third of lower eyelids |
HP:0010747 | Medial flaring of the eyebrow |
HP:0005957 | Breathing dysregulation |
HP:0000992 | Cutaneous photosensitivity |
HP:0011995 | Atrial septal dilatation |
HP:0000377 | Abnormality of the pinna |
HP:0011266 | Microtia, first degree |
HP:0012650 | Perisylvian polymicrogyria |
HP:0004970 | Ascending tubular aorta aneurysm |
HP:0008348 | Decreased circulating IgG2 level |
HP:0012115 | Hepatitis |
HP:0006979 | Sleep-wake cycle disturbance |
HP:0008587 | Mild neurosensory hearing impairment |
HP:0006097 | 3-4 finger syndactyly |
HP:0005263 | Gastritis |
HP:0200043 | Verrucae |
HP:0009600 | Flexion contracture of thumb |
HP:0010818 | Generalized tonic seizure |
HP:0002599 | Head titubation |
HP:0002090 | Pneumonia |
HP:0030423 | Splenic cyst |
HP:0030187 | Titubation |
HP:0002375 | Hypokinesia |
HP:0007166 | Paroxysmal dyskinesia |
HP:0003077 | Hyperlipidemia |
HP:0000017 | Nocturia |
HP:0100555 | Asymmetric growth |
HP:0011847 | Giant cell tumor of bone |
HP:0000112 | Nephropathy |
HP:0000246 | Sinusitis |
HP:0001012 | Multiple lipomas |
HP:0000851 | Congenital hypothyroidism |
HP:0002345 | Action tremor |
HP:0002677 | Small foramen magnum |
HP:0011947 | Respiratory tract infection |
HP:0012151 | Hemothorax |
HP:0005988 | Congenital muscular torticollis |
HP:0002329 | Drowsiness |
HP:0012395 | Seasonal allergy |
HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
HP:0001864 | Clinodactyly of the 5th toe |
HP:0006934 | Congenital nystagmus |
HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
HP:0007894 | Hypopigmentation of the fundus |
HP:0012377 | Hemianopia |
HP:0002354 | Memory impairment |
HP:0000872 | Hashimoto thyroiditis |
HP:0002519 | Hypnagogic hallucinations |
HP:0010647 | Abnormal elasticity of skin |
HP:0002592 | Gastric ulcer |
HP:0004938 | Tortuous cerebral arteries |
HP:0004948 | Vascular tortuosity |
HP:0002516 | Increased intracranial pressure |
HP:0006460 | Increased laxity of ankles |
HP:0002317 | Unsteady gait |
HP:0000182 | Movement abnormality of the tongue |
HP:0009887 | Abnormality of hair pigmentation |
HP:0005824 | Clinodactyly of the 2nd toe |
HP:0002212 | Curly hair |
HP:0009803 | Short phalanx of finger |
HP:0000572 | Visual loss |
HP:0005216 | Impaired mastication |
HP:0000619 | Impaired convergence |
HP:0002403 | Positive Romberg sign |
HP:0008744 | Abnormal aryepiglottic fold morphology |
HP:0002374 | Diminished movement |
HP:0008277 | Abnormal blood zinc concentration |
HP:0012781 | Mid-frequency hearing loss |
HP:0100758 | Gangrene |
HP:0003256 | Abnormality of the coagulation cascade |
HP:0004387 | Enterocolitis |
HP:0011029 | Internal hemorrhage |
HP:0011649 | Patent ductus arteriosus after premature birth |
HP:0012050 | Anasarca |
HP:0001683 | Ectopia cordis |
HP:0011682 | Perimembranous ventricular septal defect |
HP:0010624 | Aplastic/hypoplastic toenail |
HP:0002705 | High, narrow palate |
HP:0011340 | Incomplete cleft of the upper lip |
HP:0011613 | Interrupted aortic arch type B |
HP:0006167 | Prominent proximal interphalangeal joints |
HP:0002918 | Hypermagnesemia |
HP:0011937 | Hypoplastic fifth toenail |
HP:0001067 | Neurofibromas |
HP:0011403 | Abnormal umbilical cord blood vessels |
HP:0003316 | Butterfly vertebrae |
HP:0002247 | Duodenal atresia |
HP:0008439 | Lumbar hemivertebrae |
HP:0011599 | Mesocardia |
HP:0008467 | Thoracic hemivertebrae |
HP:0004626 | Lumbar scoliosis |
HP:0006808 | Cerebral hypomyelination |
HP:0002926 | Abnormality of thyroid physiology |
HP:0007970 | Congenital ptosis |
"
+ },
+ "url" : "http://purl.obolibrary.org/obo/hp.owl",
+ "version" : "0.2.0",
+ "name" : "HPO",
+ "title" : "Human Phenotype Ontology",
+ "status" : "draft",
+ "experimental" : false,
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org",
+ "valueSet" : "http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes",
+ "hierarchyMeaning" : "is-a",
+ "compositional" : false,
+ "versionNeeded" : false,
+ "content" : "fragment",
+ "count" : 1880,
+ "filter" : [{
+ "code" : "root",
+ "operator" : ["="],
+ "value" : "True or false."
+ },
+ {
+ "code" : "deprecated",
+ "operator" : ["="],
+ "value" : "True or false."
+ },
+ {
+ "code" : "imported",
+ "operator" : ["="],
+ "value" : "True or false"
+ }],
+ "property" : [{
+ "code" : "parent",
+ "description" : "Parent codes.",
+ "type" : "code"
+ },
+ {
+ "code" : "imported",
+ "description" : "Indicates if the concept is imported from another code system.",
+ "type" : "boolean"
+ },
+ {
+ "code" : "root",
+ "description" : "Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)",
+ "type" : "boolean"
+ },
+ {
+ "code" : "deprecated",
+ "description" : "Indicates if this concept is deprecated.",
+ "type" : "boolean"
+ }],
+ "concept" : [{
+ "code" : "HP:0000365",
+ "display" : "Hearing impairment"
+ },
+ {
+ "code" : "HP:0002564",
+ "display" : "obsolete Malformation of the heart and great vessels"
+ },
+ {
+ "code" : "HP:0001028",
+ "display" : "Hemangioma"
+ },
+ {
+ "code" : "HP:0000476",
+ "display" : "Cystic hygroma"
+ },
+ {
+ "code" : "HP:0000568",
+ "display" : "Microphthalmia"
+ },
+ {
+ "code" : "HP:0000518",
+ "display" : "Cataract"
+ },
+ {
+ "code" : "HP:0000612",
+ "display" : "Iris coloboma"
+ },
+ {
+ "code" : "HP:0000567",
+ "display" : "Chorioretinal coloboma"
+ },
+ {
+ "code" : "HP:0000316",
+ "display" : "Hypertelorism"
+ },
+ {
+ "code" : "HP:0000482",
+ "display" : "Microcornea"
+ },
+ {
+ "code" : "HP:0000588",
+ "display" : "Optic nerve coloboma"
+ },
+ {
+ "code" : "HP:0004426",
+ "display" : "Abnormality of the cheek"
+ },
+ {
+ "code" : "HP:0009125",
+ "display" : "Lipodystrophy"
+ },
+ {
+ "code" : "HP:0002023",
+ "display" : "Anal atresia"
+ },
+ {
+ "code" : "HP:0003468",
+ "display" : "Abnormal vertebral morphology"
+ },
+ {
+ "code" : "HP:0000545",
+ "display" : "Myopia"
+ },
+ {
+ "code" : "HP:0000122",
+ "display" : "Unilateral renal agenesis"
+ },
+ {
+ "code" : "HP:0002143",
+ "display" : "Abnormality of the spinal cord"
+ },
+ {
+ "code" : "HP:0003508",
+ "display" : "Proportionate short stature"
+ },
+ {
+ "code" : "HP:0000271",
+ "display" : "Abnormality of the face"
+ },
+ {
+ "code" : "HP:0000637",
+ "display" : "Long palpebral fissure"
+ },
+ {
+ "code" : "HP:0000492",
+ "display" : "Abnormal eyelid morphology"
+ },
+ {
+ "code" : "HP:0000389",
+ "display" : "Chronic otitis media"
+ },
+ {
+ "code" : "HP:0000400",
+ "display" : "Macrotia"
+ },
+ {
+ "code" : "HP:0000405",
+ "display" : "Conductive hearing impairment"
+ },
+ {
+ "code" : "HP:0012712",
+ "display" : "Mild hearing impairment"
+ },
+ {
+ "code" : "HP:0005280",
+ "display" : "Depressed nasal bridge"
+ },
+ {
+ "code" : "HP:0000431",
+ "display" : "Wide nasal bridge"
+ },
+ {
+ "code" : "HP:0000319",
+ "display" : "Smooth philtrum"
+ },
+ {
+ "code" : "HP:0000175",
+ "display" : "Cleft palate"
+ },
+ {
+ "code" : "HP:0001611",
+ "display" : "Nasal speech"
+ },
+ {
+ "code" : "HP:0002099",
+ "display" : "Asthma"
+ },
+ {
+ "code" : "HP:0001397",
+ "display" : "Hepatic steatosis"
+ },
+ {
+ "code" : "HP:0001081",
+ "display" : "Cholelithiasis"
+ },
+ {
+ "code" : "HP:0002650",
+ "display" : "Scoliosis"
+ },
+ {
+ "code" : "HP:0001212",
+ "display" : "Prominent fingertip pads"
+ },
+ {
+ "code" : "HP:0001328",
+ "display" : "Specific learning disability"
+ },
+ {
+ "code" : "HP:0000824",
+ "display" : "Growth hormone deficiency"
+ },
+ {
+ "code" : "HP:0002607",
+ "display" : "Bowel incontinence"
+ },
+ {
+ "code" : "HP:0100731",
+ "display" : "Transverse facial cleft"
+ },
+ {
+ "code" : "HP:0000528",
+ "display" : "Anophthalmia"
+ },
+ {
+ "code" : "HP:0000601",
+ "display" : "Hypotelorism"
+ },
+ {
+ "code" : "HP:0000369",
+ "display" : "Low-set ears"
+ },
+ {
+ "code" : "HP:0001274",
+ "display" : "Agenesis of corpus callosum"
+ },
+ {
+ "code" : "HP:0002084",
+ "display" : "Encephalocele"
+ },
+ {
+ "code" : "HP:0007033",
+ "display" : "Cerebellar dysplasia"
+ },
+ {
+ "code" : "HP:0100336",
+ "display" : "Bilateral cleft lip"
+ },
+ {
+ "code" : "HP:0100337",
+ "display" : "Bilateral cleft palate"
+ },
+ {
+ "code" : "HP:0001511",
+ "display" : "Intrauterine growth retardation"
+ },
+ {
+ "code" : "HP:0011451",
+ "display" : "Congenital microcephaly"
+ },
+ {
+ "code" : "HP:0000324",
+ "display" : "Facial asymmetry"
+ },
+ {
+ "code" : "HP:0000581",
+ "display" : "Blepharophimosis"
+ },
+ {
+ "code" : "HP:0000508",
+ "display" : "Ptosis"
+ },
+ {
+ "code" : "HP:0008551",
+ "display" : "Microtia"
+ },
+ {
+ "code" : "HP:0001631",
+ "display" : "Atrial septal defect"
+ },
+ {
+ "code" : "HP:0000085",
+ "display" : "Horseshoe kidney"
+ },
+ {
+ "code" : "HP:0011927",
+ "display" : "Short digit"
+ },
+ {
+ "code" : "HP:0001156",
+ "display" : "Brachydactyly"
+ },
+ {
+ "code" : "HP:0002066",
+ "display" : "Gait ataxia"
+ },
+ {
+ "code" : "HP:0001250",
+ "display" : "Seizure"
+ },
+ {
+ "code" : "HP:0001263",
+ "display" : "Global developmental delay"
+ },
+ {
+ "code" : "HP:0001562",
+ "display" : "Oligohydramnios"
+ },
+ {
+ "code" : "HP:0001195",
+ "display" : "Single umbilical artery"
+ },
+ {
+ "code" : "HP:0006349",
+ "display" : "Agenesis of permanent teeth"
+ },
+ {
+ "code" : "HP:0000668",
+ "display" : "Hypodontia"
+ },
+ {
+ "code" : "HP:0000677",
+ "display" : "Oligodontia"
+ },
+ {
+ "code" : "HP:0001252",
+ "display" : "Muscular hypotonia"
+ },
+ {
+ "code" : "HP:0003429",
+ "display" : "CNS hypomyelination"
+ },
+ {
+ "code" : "HP:0010864",
+ "display" : "Intellectual disability, severe"
+ },
+ {
+ "code" : "HP:0004325",
+ "display" : "Decreased body weight"
+ },
+ {
+ "code" : "HP:0000666",
+ "display" : "Horizontal nystagmus"
+ },
+ {
+ "code" : "HP:0000218",
+ "display" : "High palate"
+ },
+ {
+ "code" : "HP:0010809",
+ "display" : "Broad uvula"
+ },
+ {
+ "code" : "HP:0000767",
+ "display" : "Pectus excavatum"
+ },
+ {
+ "code" : "HP:0003691",
+ "display" : "Scapular winging"
+ },
+ {
+ "code" : "HP:0002616",
+ "display" : "Aortic root aneurysm"
+ },
+ {
+ "code" : "HP:0001601",
+ "display" : "Laryngomalacia"
+ },
+ {
+ "code" : "HP:0002021",
+ "display" : "Pyloric stenosis"
+ },
+ {
+ "code" : "HP:0001388",
+ "display" : "Joint laxity"
+ },
+ {
+ "code" : "HP:0001187",
+ "display" : "Hyperextensibility of the finger joints"
+ },
+ {
+ "code" : "HP:0000741",
+ "display" : "Apathy"
+ },
+ {
+ "code" : "HP:0000817",
+ "display" : "Poor eye contact"
+ },
+ {
+ "code" : "HP:0000821",
+ "display" : "Hypothyroidism"
+ },
+ {
+ "code" : "HP:0000002",
+ "display" : "Abnormality of body height"
+ },
+ {
+ "code" : "HP:0000079",
+ "display" : "Abnormality of the urinary system"
+ },
+ {
+ "code" : "HP:0000164",
+ "display" : "Abnormality of the dentition"
+ },
+ {
+ "code" : "HP:0000364",
+ "display" : "Hearing abnormality"
+ },
+ {
+ "code" : "HP:0000366",
+ "display" : "Abnormality of the nose"
+ },
+ {
+ "code" : "HP:0000464",
+ "display" : "Abnormality of the neck"
+ },
+ {
+ "code" : "HP:0000707",
+ "display" : "Abnormality of the nervous system"
+ },
+ {
+ "code" : "HP:0000708",
+ "display" : "Behavioral abnormality"
+ },
+ {
+ "code" : "HP:0000769",
+ "display" : "Abnormality of the breast"
+ },
+ {
+ "code" : "HP:0000772",
+ "display" : "Abnormality of the ribs"
+ },
+ {
+ "code" : "HP:0000775",
+ "display" : "Abnormality of the diaphragm"
+ },
+ {
+ "code" : "HP:0000889",
+ "display" : "Abnormality of the clavicle"
+ },
+ {
+ "code" : "HP:0000925",
+ "display" : "Abnormality of the vertebral column"
+ },
+ {
+ "code" : "HP:0001080",
+ "display" : "Biliary tract abnormality"
+ },
+ {
+ "code" : "HP:0001392",
+ "display" : "Abnormality of the liver"
+ },
+ {
+ "code" : "HP:0001438",
+ "display" : "Abnormal abdomen morphology"
+ },
+ {
+ "code" : "HP:0001608",
+ "display" : "Abnormality of the voice"
+ },
+ {
+ "code" : "HP:0001627",
+ "display" : "Abnormal heart morphology"
+ },
+ {
+ "code" : "HP:0001732",
+ "display" : "Abnormality of the pancreas"
+ },
+ {
+ "code" : "HP:0001739",
+ "display" : "Abnormality of the nasopharynx"
+ },
+ {
+ "code" : "HP:0001743",
+ "display" : "Abnormality of the spleen"
+ },
+ {
+ "code" : "HP:0001760",
+ "display" : "Abnormal foot morphology"
+ },
+ {
+ "code" : "HP:0001871",
+ "display" : "Abnormality of blood and blood-forming tissues"
+ },
+ {
+ "code" : "HP:0002031",
+ "display" : "Abnormal esophagus morphology"
+ },
+ {
+ "code" : "HP:0002244",
+ "display" : "Abnormality of the small intestine"
+ },
+ {
+ "code" : "HP:0002246",
+ "display" : "Abnormality of the duodenum"
+ },
+ {
+ "code" : "HP:0002250",
+ "display" : "Abnormal large intestine morphology"
+ },
+ {
+ "code" : "HP:0002644",
+ "display" : "Abnormality of pelvic girdle bone morphology"
+ },
+ {
+ "code" : "HP:0002664",
+ "display" : "Neoplasm"
+ },
+ {
+ "code" : "HP:0002715",
+ "display" : "Abnormality of the immune system"
+ },
+ {
+ "code" : "HP:0002814",
+ "display" : "Abnormality of the lower limb"
+ },
+ {
+ "code" : "HP:0002817",
+ "display" : "Abnormality of the upper limb"
+ },
+ {
+ "code" : "HP:0005483",
+ "display" : "Abnormal epiglottis morphology"
+ },
+ {
+ "code" : "HP:0008777",
+ "display" : "Abnormal vocal cord morphology"
+ },
+ {
+ "code" : "HP:0011844",
+ "display" : "Abnormal appendicular skeleton morphology"
+ },
+ {
+ "code" : "HP:0012732",
+ "display" : "Anorectal anomaly"
+ },
+ {
+ "code" : "HP:0001508",
+ "display" : "Failure to thrive"
+ },
+ {
+ "code" : "HP:0002902",
+ "display" : "Hyponatremia"
+ },
+ {
+ "code" : "HP:0012236",
+ "display" : "Elevated sweat chloride"
+ },
+ {
+ "code" : "HP:0000347",
+ "display" : "Micrognathia"
+ },
+ {
+ "code" : "HP:0000926",
+ "display" : "Platyspondyly"
+ },
+ {
+ "code" : "HP:0001371",
+ "display" : "Flexion contracture"
+ },
+ {
+ "code" : "HP:0001875",
+ "display" : "Neutropenia"
+ },
+ {
+ "code" : "HP:0001888",
+ "display" : "Lymphopenia"
+ },
+ {
+ "code" : "HP:0002857",
+ "display" : "Genu valgum"
+ },
+ {
+ "code" : "HP:0002986",
+ "display" : "Radial bowing"
+ },
+ {
+ "code" : "HP:0003015",
+ "display" : "Flared metaphysis"
+ },
+ {
+ "code" : "HP:0003025",
+ "display" : "Metaphyseal irregularity"
+ },
+ {
+ "code" : "HP:0003097",
+ "display" : "Short femur"
+ },
+ {
+ "code" : "HP:0003300",
+ "display" : "Ovoid vertebral bodies"
+ },
+ {
+ "code" : "HP:0003307",
+ "display" : "Hyperlordosis"
+ },
+ {
+ "code" : "HP:0004209",
+ "display" : "Clinodactyly of the 5th finger"
+ },
+ {
+ "code" : "HP:0004322",
+ "display" : "Short stature"
+ },
+ {
+ "code" : "HP:0005792",
+ "display" : "Short humerus"
+ },
+ {
+ "code" : "HP:0006248",
+ "display" : "Limited wrist movement"
+ },
+ {
+ "code" : "HP:0000944",
+ "display" : "Abnormality of the metaphysis"
+ },
+ {
+ "code" : "HP:0011921",
+ "display" : "Exudative pleural effusion"
+ },
+ {
+ "code" : "HP:0003043",
+ "display" : "Abnormality of the shoulder"
+ },
+ {
+ "code" : "HP:0000290",
+ "display" : "Abnormality of the forehead"
+ },
+ {
+ "code" : "HP:0005288",
+ "display" : "Abnormality of the nares"
+ },
+ {
+ "code" : "HP:0000234",
+ "display" : "Abnormality of the head"
+ },
+ {
+ "code" : "HP:0004323",
+ "display" : "Abnormality of body weight"
+ },
+ {
+ "code" : "HP:0000483",
+ "display" : "Astigmatism"
+ },
+ {
+ "code" : "HP:0011003",
+ "display" : "High myopia"
+ },
+ {
+ "code" : "HP:0000470",
+ "display" : "Short neck"
+ },
+ {
+ "code" : "HP:0030044",
+ "display" : "Flexion contracture of digit"
+ },
+ {
+ "code" : "HP:0100871",
+ "display" : "Abnormality of the palm"
+ },
+ {
+ "code" : "HP:0004334",
+ "display" : "Dermal atrophy"
+ },
+ {
+ "code" : "HP:0001845",
+ "display" : "Overlapping toe"
+ },
+ {
+ "code" : "HP:0000496",
+ "display" : "Abnormality of eye movement"
+ },
+ {
+ "code" : "HP:0001780",
+ "display" : "Abnormality of toe"
+ },
+ {
+ "code" : "HP:0001626",
+ "display" : "Abnormality of the cardiovascular system"
+ },
+ {
+ "code" : "HP:0002086",
+ "display" : "Abnormality of the respiratory system"
+ },
+ {
+ "code" : "HP:0000818",
+ "display" : "Abnormality of the endocrine system"
+ },
+ {
+ "code" : "HP:0012372",
+ "display" : "Abnormal eye morphology"
+ },
+ {
+ "code" : "HP:0009473",
+ "display" : "Joint contracture of the hand"
+ },
+ {
+ "code" : "HP:0003199",
+ "display" : "Decreased muscle mass"
+ },
+ {
+ "code" : "HP:0003202",
+ "display" : "Skeletal muscle atrophy"
+ },
+ {
+ "code" : "HP:0003551",
+ "display" : "Difficulty climbing stairs"
+ },
+ {
+ "code" : "HP:0002355",
+ "display" : "Difficulty walking"
+ },
+ {
+ "code" : "HP:0003546",
+ "display" : "Exercise intolerance"
+ },
+ {
+ "code" : "HP:0003325",
+ "display" : "Limb-girdle muscle weakness"
+ },
+ {
+ "code" : "HP:0003701",
+ "display" : "Proximal muscle weakness"
+ },
+ {
+ "code" : "HP:0003547",
+ "display" : "Shoulder girdle muscle weakness"
+ },
+ {
+ "code" : "HP:0007340",
+ "display" : "Lower limb muscle weakness"
+ },
+ {
+ "code" : "HP:0002168",
+ "display" : "Scanning speech"
+ },
+ {
+ "code" : "HP:0001265",
+ "display" : "Hyporeflexia"
+ },
+ {
+ "code" : "HP:0001284",
+ "display" : "Areflexia"
+ },
+ {
+ "code" : "HP:0003477",
+ "display" : "Peripheral axonal neuropathy"
+ },
+ {
+ "code" : "HP:0000924",
+ "display" : "Abnormality of the skeletal system"
+ },
+ {
+ "code" : "HP:0001291",
+ "display" : "Abnormal cranial nerve morphology"
+ },
+ {
+ "code" : "HP:0003687",
+ "display" : "Centrally nucleated skeletal muscle fibers"
+ },
+ {
+ "code" : "HP:0001324",
+ "display" : "Muscle weakness"
+ },
+ {
+ "code" : "HP:0002515",
+ "display" : "Waddling gait"
+ },
+ {
+ "code" : "HP:0100280",
+ "display" : "Crohn's disease"
+ },
+ {
+ "code" : "HP:0002631",
+ "display" : "obsolete Dilatation of ascending aorta"
+ },
+ {
+ "code" : "HP:0100026",
+ "display" : "Arteriovenous malformation"
+ },
+ {
+ "code" : "HP:0002637",
+ "display" : "Cerebral ischemia"
+ },
+ {
+ "code" : "HP:0002619",
+ "display" : "Varicose veins"
+ },
+ {
+ "code" : "HP:0001159",
+ "display" : "Syndactyly"
+ },
+ {
+ "code" : "HP:0002069",
+ "display" : "Bilateral tonic-clonic seizure"
+ },
+ {
+ "code" : "HP:0000977",
+ "display" : "Soft skin"
+ },
+ {
+ "code" : "HP:0010648",
+ "display" : "Dermal translucency"
+ },
+ {
+ "code" : "HP:0000978",
+ "display" : "Bruising susceptibility"
+ },
+ {
+ "code" : "HP:0001956",
+ "display" : "Truncal obesity"
+ },
+ {
+ "code" : "HP:0000189",
+ "display" : "Narrow palate"
+ },
+ {
+ "code" : "HP:0000678",
+ "display" : "Dental crowding"
+ },
+ {
+ "code" : "HP:0002870",
+ "display" : "Obstructive sleep apnea"
+ },
+ {
+ "code" : "HP:0001763",
+ "display" : "Pes planus"
+ },
+ {
+ "code" : "HP:0000782",
+ "display" : "Abnormality of the scapula"
+ },
+ {
+ "code" : "HP:0001600",
+ "display" : "Abnormality of the larynx"
+ },
+ {
+ "code" : "HP:0002088",
+ "display" : "Abnormal lung morphology"
+ },
+ {
+ "code" : "HP:0011407",
+ "display" : "Proportionate tall stature"
+ },
+ {
+ "code" : "HP:0000541",
+ "display" : "Retinal detachment"
+ },
+ {
+ "code" : "HP:0001373",
+ "display" : "Joint dislocation"
+ },
+ {
+ "code" : "HP:0000938",
+ "display" : "Osteopenia"
+ },
+ {
+ "code" : "HP:0002942",
+ "display" : "Thoracic kyphosis"
+ },
+ {
+ "code" : "HP:0001840",
+ "display" : "Metatarsus adductus"
+ },
+ {
+ "code" : "HP:0001844",
+ "display" : "Abnormality of the hallux"
+ },
+ {
+ "code" : "HP:0001765",
+ "display" : "Hammertoe"
+ },
+ {
+ "code" : "HP:0000606",
+ "display" : "Abnormality of the periorbital region"
+ },
+ {
+ "code" : "HP:0002757",
+ "display" : "Recurrent fractures"
+ },
+ {
+ "code" : "HP:0000647",
+ "display" : "Sclerocornea"
+ },
+ {
+ "code" : "HP:0001166",
+ "display" : "Arachnodactyly"
+ },
+ {
+ "code" : "HP:0005490",
+ "display" : "Postnatal macrocephaly"
+ },
+ {
+ "code" : "HP:0011363",
+ "display" : "Abnormality of hair growth rate"
+ },
+ {
+ "code" : "HP:0000276",
+ "display" : "Long face"
+ },
+ {
+ "code" : "HP:0000275",
+ "display" : "Narrow face"
+ },
+ {
+ "code" : "HP:0000337",
+ "display" : "Broad forehead"
+ },
+ {
+ "code" : "HP:0002267",
+ "display" : "Exaggerated startle response"
+ },
+ {
+ "code" : "HP:0002187",
+ "display" : "Intellectual disability, profound"
+ },
+ {
+ "code" : "HP:0000728",
+ "display" : "Impaired ability to form peer relationships"
+ },
+ {
+ "code" : "HP:0000733",
+ "display" : "Stereotypy"
+ },
+ {
+ "code" : "HP:0000739",
+ "display" : "Anxiety"
+ },
+ {
+ "code" : "HP:0000929",
+ "display" : "Abnormal skull morphology"
+ },
+ {
+ "code" : "HP:0001965",
+ "display" : "Abnormal scalp morphology"
+ },
+ {
+ "code" : "HP:0100538",
+ "display" : "Abnormality of the supraorbital ridges"
+ },
+ {
+ "code" : "HP:0000309",
+ "display" : "Abnormality of the midface"
+ },
+ {
+ "code" : "HP:0000277",
+ "display" : "Abnormality of the mandible"
+ },
+ {
+ "code" : "HP:0000765",
+ "display" : "Abnormality of the thorax"
+ },
+ {
+ "code" : "HP:0100008",
+ "display" : "Schwannoma"
+ },
+ {
+ "code" : "HP:0030038",
+ "display" : "Enchondroma"
+ },
+ {
+ "code" : "HP:0100777",
+ "display" : "Exostoses"
+ },
+ {
+ "code" : "HP:0011663",
+ "display" : "Right ventricular cardiomyopathy"
+ },
+ {
+ "code" : "HP:0011675",
+ "display" : "Arrhythmia"
+ },
+ {
+ "code" : "HP:0001962",
+ "display" : "Palpitations"
+ },
+ {
+ "code" : "HP:0001279",
+ "display" : "Syncope"
+ },
+ {
+ "code" : "HP:0004756",
+ "display" : "Ventricular tachycardia"
+ },
+ {
+ "code" : "HP:0000252",
+ "display" : "Microcephaly"
+ },
+ {
+ "code" : "HP:0000303",
+ "display" : "Mandibular prognathia"
+ },
+ {
+ "code" : "HP:0000664",
+ "display" : "Synophrys"
+ },
+ {
+ "code" : "HP:0001609",
+ "display" : "Hoarse voice"
+ },
+ {
+ "code" : "HP:0002558",
+ "display" : "Supernumerary nipple"
+ },
+ {
+ "code" : "HP:0001634",
+ "display" : "Mitral valve prolapse"
+ },
+ {
+ "code" : "HP:0000028",
+ "display" : "Cryptorchidism"
+ },
+ {
+ "code" : "HP:0000973",
+ "display" : "Cutis laxa"
+ },
+ {
+ "code" : "HP:0001518",
+ "display" : "Small for gestational age"
+ },
+ {
+ "code" : "HP:0000527",
+ "display" : "Long eyelashes"
+ },
+ {
+ "code" : "HP:0002808",
+ "display" : "Kyphosis"
+ },
+ {
+ "code" : "HP:0000248",
+ "display" : "Brachycephaly"
+ },
+ {
+ "code" : "HP:0000505",
+ "display" : "Visual impairment"
+ },
+ {
+ "code" : "HP:0000512",
+ "display" : "Abnormal electroretinogram"
+ },
+ {
+ "code" : "HP:0000517",
+ "display" : "Abnormality of the lens"
+ },
+ {
+ "code" : "HP:0000529",
+ "display" : "Progressive visual loss"
+ },
+ {
+ "code" : "HP:0000586",
+ "display" : "Shallow orbits"
+ },
+ {
+ "code" : "HP:0000603",
+ "display" : "Central scotoma"
+ },
+ {
+ "code" : "HP:0000939",
+ "display" : "Osteoporosis"
+ },
+ {
+ "code" : "HP:0001377",
+ "display" : "Limited elbow extension"
+ },
+ {
+ "code" : "HP:0001387",
+ "display" : "Joint stiffness"
+ },
+ {
+ "code" : "HP:0001822",
+ "display" : "Hallux valgus"
+ },
+ {
+ "code" : "HP:0002657",
+ "display" : "Spondylometaphyseal dysplasia"
+ },
+ {
+ "code" : "HP:0003026",
+ "display" : "Short long bone"
+ },
+ {
+ "code" : "HP:0006462",
+ "display" : "Generalized bone demineralization"
+ },
+ {
+ "code" : "HP:0008873",
+ "display" : "Disproportionate short-limb short stature"
+ },
+ {
+ "code" : "HP:0008905",
+ "display" : "Rhizomelia"
+ },
+ {
+ "code" : "HP:0008922",
+ "display" : "Childhood-onset short-trunk short stature"
+ },
+ {
+ "code" : "HP:0200020",
+ "display" : "Corneal erosion"
+ },
+ {
+ "code" : "HP:0001172",
+ "display" : "Abnormal thumb morphology"
+ },
+ {
+ "code" : "HP:0002286",
+ "display" : "Fair hair"
+ },
+ {
+ "code" : "HP:0010719",
+ "display" : "Abnormality of hair texture"
+ },
+ {
+ "code" : "HP:0010720",
+ "display" : "Abnormal hair pattern"
+ },
+ {
+ "code" : "HP:0001635",
+ "display" : "Congestive heart failure"
+ },
+ {
+ "code" : "HP:0001644",
+ "display" : "Dilated cardiomyopathy"
+ },
+ {
+ "code" : "HP:0001663",
+ "display" : "Ventricular fibrillation"
+ },
+ {
+ "code" : "HP:0011712",
+ "display" : "Right bundle branch block"
+ },
+ {
+ "code" : "HP:0000272",
+ "display" : "Malar flattening"
+ },
+ {
+ "code" : "HP:0000286",
+ "display" : "Epicanthus"
+ },
+ {
+ "code" : "HP:0000322",
+ "display" : "Short philtrum"
+ },
+ {
+ "code" : "HP:0000463",
+ "display" : "Anteverted nares"
+ },
+ {
+ "code" : "HP:0000494",
+ "display" : "Downslanted palpebral fissures"
+ },
+ {
+ "code" : "HP:0000543",
+ "display" : "Optic disc pallor"
+ },
+ {
+ "code" : "HP:0000699",
+ "display" : "Diastema"
+ },
+ {
+ "code" : "HP:0000773",
+ "display" : "Short ribs"
+ },
+ {
+ "code" : "HP:0000887",
+ "display" : "Cupped ribs"
+ },
+ {
+ "code" : "HP:0000946",
+ "display" : "Hypoplastic ilia"
+ },
+ {
+ "code" : "HP:0000954",
+ "display" : "Single transverse palmar crease"
+ },
+ {
+ "code" : "HP:0001182",
+ "display" : "Tapered finger"
+ },
+ {
+ "code" : "HP:0001537",
+ "display" : "Umbilical hernia"
+ },
+ {
+ "code" : "HP:0002007",
+ "display" : "Frontal bossing"
+ },
+ {
+ "code" : "HP:0002980",
+ "display" : "Femoral bowing"
+ },
+ {
+ "code" : "HP:0002982",
+ "display" : "Tibial bowing"
+ },
+ {
+ "code" : "HP:0003021",
+ "display" : "Metaphyseal cupping"
+ },
+ {
+ "code" : "HP:0005011",
+ "display" : "Mesomelic arm shortening"
+ },
+ {
+ "code" : "HP:0008803",
+ "display" : "obsolete Narrow sacroiliac notch"
+ },
+ {
+ "code" : "HP:0009117",
+ "display" : "Aplasia/Hypoplasia of the maxilla"
+ },
+ {
+ "code" : "HP:0011220",
+ "display" : "Prominent forehead"
+ },
+ {
+ "code" : "HP:0012801",
+ "display" : "Narrow jaw"
+ },
+ {
+ "code" : "HP:0000243",
+ "display" : "Trigonocephaly"
+ },
+ {
+ "code" : "HP:0000358",
+ "display" : "Posteriorly rotated ears"
+ },
+ {
+ "code" : "HP:0000411",
+ "display" : "Protruding ear"
+ },
+ {
+ "code" : "HP:0000646",
+ "display" : "Amblyopia"
+ },
+ {
+ "code" : "HP:0002812",
+ "display" : "Coxa vara"
+ },
+ {
+ "code" : "HP:0002970",
+ "display" : "Genu varum"
+ },
+ {
+ "code" : "HP:0012775",
+ "display" : "Stellate iris"
+ },
+ {
+ "code" : "HP:0000278",
+ "display" : "Retrognathia"
+ },
+ {
+ "code" : "HP:0009796",
+ "display" : "Branchial cyst"
+ },
+ {
+ "code" : "HP:0002474",
+ "display" : "Expressive language delay"
+ },
+ {
+ "code" : "HP:0007018",
+ "display" : "Attention deficit hyperactivity disorder"
+ },
+ {
+ "code" : "HP:0003198",
+ "display" : "Myopathy"
+ },
+ {
+ "code" : "HP:0003324",
+ "display" : "Generalized muscle weakness"
+ },
+ {
+ "code" : "HP:0003552",
+ "display" : "Muscle stiffness"
+ },
+ {
+ "code" : "HP:0003554",
+ "display" : "Type 2 muscle fiber atrophy"
+ },
+ {
+ "code" : "HP:0003557",
+ "display" : "Increased variability in muscle fiber diameter"
+ },
+ {
+ "code" : "HP:0009025",
+ "display" : "Increased connective tissue"
+ },
+ {
+ "code" : "HP:0003635",
+ "display" : "Loss of subcutaneous adipose tissue in limbs"
+ },
+ {
+ "code" : "HP:0002597",
+ "display" : "Abnormality of the vasculature"
+ },
+ {
+ "code" : "HP:0001649",
+ "display" : "Tachycardia"
+ },
+ {
+ "code" : "HP:0001638",
+ "display" : "Cardiomyopathy"
+ },
+ {
+ "code" : "HP:0001654",
+ "display" : "Abnormal heart valve morphology"
+ },
+ {
+ "code" : "HP:0001671",
+ "display" : "Abnormal cardiac septum morphology"
+ },
+ {
+ "code" : "HP:0000103",
+ "display" : "Polyuria"
+ },
+ {
+ "code" : "HP:0000114",
+ "display" : "Proximal tubulopathy"
+ },
+ {
+ "code" : "HP:0001878",
+ "display" : "Hemolytic anemia"
+ },
+ {
+ "code" : "HP:0001931",
+ "display" : "Hypochromic anemia"
+ },
+ {
+ "code" : "HP:0001935",
+ "display" : "Microcytic anemia"
+ },
+ {
+ "code" : "HP:0001959",
+ "display" : "Polydipsia"
+ },
+ {
+ "code" : "HP:0001994",
+ "display" : "Renal Fanconi syndrome"
+ },
+ {
+ "code" : "HP:0002134",
+ "display" : "Abnormality of the basal ganglia"
+ },
+ {
+ "code" : "HP:0002188",
+ "display" : "Delayed CNS myelination"
+ },
+ {
+ "code" : "HP:0002908",
+ "display" : "Conjugated hyperbilirubinemia"
+ },
+ {
+ "code" : "HP:0003774",
+ "display" : "Stage 5 chronic kidney disease"
+ },
+ {
+ "code" : "HP:0010700",
+ "display" : "obsolete Total cataract"
+ },
+ {
+ "code" : "HP:0000193",
+ "display" : "Bifid uvula"
+ },
+ {
+ "code" : "HP:0000219",
+ "display" : "Thin upper lip vermilion"
+ },
+ {
+ "code" : "HP:0000426",
+ "display" : "Prominent nasal bridge"
+ },
+ {
+ "code" : "HP:0000452",
+ "display" : "Choanal stenosis"
+ },
+ {
+ "code" : "HP:0000490",
+ "display" : "Deeply set eye"
+ },
+ {
+ "code" : "HP:0000540",
+ "display" : "Hypermetropia"
+ },
+ {
+ "code" : "HP:0000579",
+ "display" : "Nasolacrimal duct obstruction"
+ },
+ {
+ "code" : "HP:0000684",
+ "display" : "Delayed eruption of teeth"
+ },
+ {
+ "code" : "HP:0000960",
+ "display" : "Sacral dimple"
+ },
+ {
+ "code" : "HP:0000998",
+ "display" : "Hypertrichosis"
+ },
+ {
+ "code" : "HP:0001643",
+ "display" : "Patent ductus arteriosus"
+ },
+ {
+ "code" : "HP:0010813",
+ "display" : "Abnormal number of hair whorls"
+ },
+ {
+ "code" : "HP:0012384",
+ "display" : "Rhinitis"
+ },
+ {
+ "code" : "HP:0012745",
+ "display" : "Short palpebral fissure"
+ },
+ {
+ "code" : "HP:0000359",
+ "display" : "Abnormality of the inner ear"
+ },
+ {
+ "code" : "HP:0000429",
+ "display" : "Abnormality of the nasal alae"
+ },
+ {
+ "code" : "HP:0000436",
+ "display" : "Abnormality of the nasal tip"
+ },
+ {
+ "code" : "HP:0000499",
+ "display" : "Abnormal eyelash morphology"
+ },
+ {
+ "code" : "HP:0000534",
+ "display" : "Abnormal eyebrow morphology"
+ },
+ {
+ "code" : "HP:0000951",
+ "display" : "Abnormality of the skin"
+ },
+ {
+ "code" : "HP:0001000",
+ "display" : "Abnormality of skin pigmentation"
+ },
+ {
+ "code" : "HP:0001597",
+ "display" : "Abnormality of the nail"
+ },
+ {
+ "code" : "HP:0006483",
+ "display" : "Abnormal number of teeth"
+ },
+ {
+ "code" : "HP:0009929",
+ "display" : "Abnormality of the columella"
+ },
+ {
+ "code" : "HP:0011119",
+ "display" : "Abnormality of the nasal dorsum"
+ },
+ {
+ "code" : "HP:0012808",
+ "display" : "Abnormal nasal base"
+ },
+ {
+ "code" : "HP:0100490",
+ "display" : "Camptodactyly of finger"
+ },
+ {
+ "code" : "HP:0000964",
+ "display" : "Eczema"
+ },
+ {
+ "code" : "HP:0004442",
+ "display" : "Sagittal craniosynostosis"
+ },
+ {
+ "code" : "HP:0000414",
+ "display" : "Bulbous nose"
+ },
+ {
+ "code" : "HP:0003180",
+ "display" : "Flat acetabular roof"
+ },
+ {
+ "code" : "HP:0000422",
+ "display" : "Abnormality of the nasal bridge"
+ },
+ {
+ "code" : "HP:0000614",
+ "display" : "Abnormal nasolacrimal system morphology"
+ },
+ {
+ "code" : "HP:0001167",
+ "display" : "Abnormality of finger"
+ },
+ {
+ "code" : "HP:0001595",
+ "display" : "Abnormal hair morphology"
+ },
+ {
+ "code" : "HP:0012373",
+ "display" : "Abnormal eye physiology"
+ },
+ {
+ "code" : "HP:0001655",
+ "display" : "Patent foramen ovale"
+ },
+ {
+ "code" : "HP:0001647",
+ "display" : "Bicuspid aortic valve"
+ },
+ {
+ "code" : "HP:0000574",
+ "display" : "Thick eyebrow"
+ },
+ {
+ "code" : "HP:0001169",
+ "display" : "Broad palm"
+ },
+ {
+ "code" : "HP:0006471",
+ "display" : "Fixed elbow flexion"
+ },
+ {
+ "code" : "HP:0008689",
+ "display" : "Bilateral cryptorchidism"
+ },
+ {
+ "code" : "HP:0011304",
+ "display" : "Broad thumb"
+ },
+ {
+ "code" : "HP:0005110",
+ "display" : "Atrial fibrillation"
+ },
+ {
+ "code" : "HP:0001633",
+ "display" : "Abnormal mitral valve morphology"
+ },
+ {
+ "code" : "HP:0001641",
+ "display" : "Abnormal pulmonary valve morphology"
+ },
+ {
+ "code" : "HP:0001702",
+ "display" : "Abnormal tricuspid valve morphology"
+ },
+ {
+ "code" : "HP:0000012",
+ "display" : "Urinary urgency"
+ },
+ {
+ "code" : "HP:0000020",
+ "display" : "Urinary incontinence"
+ },
+ {
+ "code" : "HP:0000131",
+ "display" : "Uterine leiomyoma"
+ },
+ {
+ "code" : "HP:0000132",
+ "display" : "Menorrhagia"
+ },
+ {
+ "code" : "HP:0000138",
+ "display" : "Ovarian cyst"
+ },
+ {
+ "code" : "HP:0000853",
+ "display" : "Goiter"
+ },
+ {
+ "code" : "HP:0000953",
+ "display" : "Hyperpigmentation of the skin"
+ },
+ {
+ "code" : "HP:0001061",
+ "display" : "Acne"
+ },
+ {
+ "code" : "HP:0002315",
+ "display" : "Headache"
+ },
+ {
+ "code" : "HP:0004324",
+ "display" : "Increased body weight"
+ },
+ {
+ "code" : "HP:0000069",
+ "display" : "Abnormality of the ureter"
+ },
+ {
+ "code" : "HP:0000077",
+ "display" : "Abnormality of the kidney"
+ },
+ {
+ "code" : "HP:0000759",
+ "display" : "Abnormal peripheral nervous system morphology"
+ },
+ {
+ "code" : "HP:0008069",
+ "display" : "Neoplasm of the skin"
+ },
+ {
+ "code" : "HP:0011276",
+ "display" : "Vascular skin abnormality"
+ },
+ {
+ "code" : "HP:0000705",
+ "display" : "Amelogenesis imperfecta"
+ },
+ {
+ "code" : "HP:0001256",
+ "display" : "Intellectual disability, mild"
+ },
+ {
+ "code" : "HP:0000325",
+ "display" : "Triangular face"
+ },
+ {
+ "code" : "HP:0000160",
+ "display" : "Narrow mouth"
+ },
+ {
+ "code" : "HP:0009487",
+ "display" : "Ulnar deviation of the hand"
+ },
+ {
+ "code" : "HP:0001249",
+ "display" : "Intellectual disability"
+ },
+ {
+ "code" : "HP:0008064",
+ "display" : "Ichthyosis"
+ },
+ {
+ "code" : "HP:0000311",
+ "display" : "Round face"
+ },
+ {
+ "code" : "HP:0001653",
+ "display" : "Mitral regurgitation"
+ },
+ {
+ "code" : "HP:0001771",
+ "display" : "Achilles tendon contracture"
+ },
+ {
+ "code" : "HP:0012032",
+ "display" : "Lipoma"
+ },
+ {
+ "code" : "HP:0012368",
+ "display" : "Flat face"
+ },
+ {
+ "code" : "HP:0030053",
+ "display" : "Stiff skin"
+ },
+ {
+ "code" : "HP:0011124",
+ "display" : "Abnormality of epidermal morphology"
+ },
+ {
+ "code" : "HP:0011097",
+ "display" : "Epileptic spasm"
+ },
+ {
+ "code" : "HP:0000407",
+ "display" : "Sensorineural hearing impairment"
+ },
+ {
+ "code" : "HP:0000331",
+ "display" : "Short chin"
+ },
+ {
+ "code" : "HP:0000340",
+ "display" : "Sloping forehead"
+ },
+ {
+ "code" : "HP:0000486",
+ "display" : "Strabismus"
+ },
+ {
+ "code" : "HP:0000713",
+ "display" : "Agitation"
+ },
+ {
+ "code" : "HP:0000802",
+ "display" : "Impotence"
+ },
+ {
+ "code" : "HP:0001272",
+ "display" : "Cerebellar atrophy"
+ },
+ {
+ "code" : "HP:0001276",
+ "display" : "Hypertonia"
+ },
+ {
+ "code" : "HP:0001321",
+ "display" : "Cerebellar hypoplasia"
+ },
+ {
+ "code" : "HP:0001322",
+ "display" : "obsolete Brain very small"
+ },
+ {
+ "code" : "HP:0002061",
+ "display" : "Lower limb spasticity"
+ },
+ {
+ "code" : "HP:0002529",
+ "display" : "Neuronal loss in central nervous system"
+ },
+ {
+ "code" : "HP:0002540",
+ "display" : "Inability to walk"
+ },
+ {
+ "code" : "HP:0005484",
+ "display" : "Postnatal microcephaly"
+ },
+ {
+ "code" : "HP:0012850",
+ "display" : "Small intestinal dysmotility"
+ },
+ {
+ "code" : "HP:0000504",
+ "display" : "Abnormality of vision"
+ },
+ {
+ "code" : "HP:0002118",
+ "display" : "Abnormality of the cerebral ventricles"
+ },
+ {
+ "code" : "HP:0002363",
+ "display" : "Abnormality of brainstem morphology"
+ },
+ {
+ "code" : "HP:0010651",
+ "display" : "Abnormal meningeal morphology"
+ },
+ {
+ "code" : "HP:0100024",
+ "display" : "Conspicuously happy disposition"
+ },
+ {
+ "code" : "HP:0002538",
+ "display" : "Abnormality of the cerebral cortex"
+ },
+ {
+ "code" : "HP:0000054",
+ "display" : "Micropenis"
+ },
+ {
+ "code" : "HP:0000215",
+ "display" : "Thick upper lip vermilion"
+ },
+ {
+ "code" : "HP:0000293",
+ "display" : "Full cheeks"
+ },
+ {
+ "code" : "HP:0000349",
+ "display" : "Widow's peak"
+ },
+ {
+ "code" : "HP:0000444",
+ "display" : "Convex nasal ridge"
+ },
+ {
+ "code" : "HP:0000506",
+ "display" : "Telecanthus"
+ },
+ {
+ "code" : "HP:0000592",
+ "display" : "Blue sclerae"
+ },
+ {
+ "code" : "HP:0000691",
+ "display" : "Microdontia"
+ },
+ {
+ "code" : "HP:0000698",
+ "display" : "Conical tooth"
+ },
+ {
+ "code" : "HP:0002000",
+ "display" : "Short columella"
+ },
+ {
+ "code" : "HP:0002097",
+ "display" : "Emphysema"
+ },
+ {
+ "code" : "HP:0002209",
+ "display" : "Sparse scalp hair"
+ },
+ {
+ "code" : "HP:0002816",
+ "display" : "Genu recurvatum"
+ },
+ {
+ "code" : "HP:0005116",
+ "display" : "Arterial tortuosity"
+ },
+ {
+ "code" : "HP:0007957",
+ "display" : "Corneal opacity"
+ },
+ {
+ "code" : "HP:0008070",
+ "display" : "Sparse hair"
+ },
+ {
+ "code" : "HP:0009623",
+ "display" : "Proximal placement of thumb"
+ },
+ {
+ "code" : "HP:0010055",
+ "display" : "Broad hallux"
+ },
+ {
+ "code" : "HP:0011318",
+ "display" : "Bicoronal synostosis"
+ },
+ {
+ "code" : "HP:0011968",
+ "display" : "Feeding difficulties"
+ },
+ {
+ "code" : "HP:0200067",
+ "display" : "Recurrent spontaneous abortion"
+ },
+ {
+ "code" : "HP:0011819",
+ "display" : "Submucous cleft soft palate"
+ },
+ {
+ "code" : "HP:0000268",
+ "display" : "Dolichocephaly"
+ },
+ {
+ "code" : "HP:0003302",
+ "display" : "Spondylolisthesis"
+ },
+ {
+ "code" : "HP:0000582",
+ "display" : "Upslanted palpebral fissure"
+ },
+ {
+ "code" : "HP:0000952",
+ "display" : "Jaundice"
+ },
+ {
+ "code" : "HP:0001298",
+ "display" : "Encephalopathy"
+ },
+ {
+ "code" : "HP:0001396",
+ "display" : "Cholestasis"
+ },
+ {
+ "code" : "HP:0002059",
+ "display" : "Cerebral atrophy"
+ },
+ {
+ "code" : "HP:0002171",
+ "display" : "Gliosis"
+ },
+ {
+ "code" : "HP:0002240",
+ "display" : "Hepatomegaly"
+ },
+ {
+ "code" : "HP:0002353",
+ "display" : "EEG abnormality"
+ },
+ {
+ "code" : "HP:0002446",
+ "display" : "Astrocytosis"
+ },
+ {
+ "code" : "HP:0003287",
+ "display" : "Abnormality of mitochondrial metabolism"
+ },
+ {
+ "code" : "HP:0011449",
+ "display" : "Knee clonus"
+ },
+ {
+ "code" : "HP:0012852",
+ "display" : "Hepatic bridging fibrosis"
+ },
+ {
+ "code" : "HP:0100626",
+ "display" : "Chronic hepatic failure"
+ },
+ {
+ "code" : "HP:0000385",
+ "display" : "Small earlobe"
+ },
+ {
+ "code" : "HP:0009748",
+ "display" : "Large earlobe"
+ },
+ {
+ "code" : "HP:0000157",
+ "display" : "Abnormality of the tongue"
+ },
+ {
+ "code" : "HP:0000172",
+ "display" : "Abnormality of the uvula"
+ },
+ {
+ "code" : "HP:0000174",
+ "display" : "Abnormal palate morphology"
+ },
+ {
+ "code" : "HP:0000306",
+ "display" : "Abnormality of the chin"
+ },
+ {
+ "code" : "HP:0004408",
+ "display" : "Abnormality of the sense of smell"
+ },
+ {
+ "code" : "HP:0009912",
+ "display" : "Abnormality of the tragus"
+ },
+ {
+ "code" : "HP:0000537",
+ "display" : "Epicanthus inversus"
+ },
+ {
+ "code" : "HP:0000565",
+ "display" : "Esotropia"
+ },
+ {
+ "code" : "HP:0000752",
+ "display" : "Hyperactivity"
+ },
+ {
+ "code" : "HP:0003186",
+ "display" : "Inverted nipples"
+ },
+ {
+ "code" : "HP:0012503",
+ "display" : "Abnormality of the pituitary gland"
+ },
+ {
+ "code" : "HP:0100710",
+ "display" : "Impulsivity"
+ },
+ {
+ "code" : "HP:0000357",
+ "display" : "Abnormal location of ears"
+ },
+ {
+ "code" : "HP:0000820",
+ "display" : "Abnormality of the thyroid gland"
+ },
+ {
+ "code" : "HP:0000828",
+ "display" : "Abnormality of the parathyroid gland"
+ },
+ {
+ "code" : "HP:0000834",
+ "display" : "Abnormality of the adrenal glands"
+ },
+ {
+ "code" : "HP:0012093",
+ "display" : "Abnormality of endocrine pancreas physiology"
+ },
+ {
+ "code" : "HP:0000269",
+ "display" : "Prominent occiput"
+ },
+ {
+ "code" : "HP:0000535",
+ "display" : "Sparse and thin eyebrow"
+ },
+ {
+ "code" : "HP:0000639",
+ "display" : "Nystagmus"
+ },
+ {
+ "code" : "HP:0000718",
+ "display" : "Aggressive behavior"
+ },
+ {
+ "code" : "HP:0000957",
+ "display" : "Cafe-au-lait spot"
+ },
+ {
+ "code" : "HP:0000256",
+ "display" : "Macrocephaly"
+ },
+ {
+ "code" : "HP:0000750",
+ "display" : "Delayed speech and language development"
+ },
+ {
+ "code" : "HP:0000963",
+ "display" : "Thin skin"
+ },
+ {
+ "code" : "HP:0001260",
+ "display" : "Dysarthria"
+ },
+ {
+ "code" : "HP:0002194",
+ "display" : "Delayed gross motor development"
+ },
+ {
+ "code" : "HP:0003196",
+ "display" : "Short nose"
+ },
+ {
+ "code" : "HP:0001155",
+ "display" : "Abnormality of the hand"
+ },
+ {
+ "code" : "HP:0100022",
+ "display" : "Abnormality of movement"
+ },
+ {
+ "code" : "HP:0010862",
+ "display" : "Delayed fine motor development"
+ },
+ {
+ "code" : "HP:0000343",
+ "display" : "Long philtrum"
+ },
+ {
+ "code" : "HP:0000717",
+ "display" : "Autism"
+ },
+ {
+ "code" : "HP:0001883",
+ "display" : "Talipes"
+ },
+ {
+ "code" : "HP:0002553",
+ "display" : "Highly arched eyebrow"
+ },
+ {
+ "code" : "HP:0007488",
+ "display" : "Diffuse skin atrophy"
+ },
+ {
+ "code" : "HP:0000822",
+ "display" : "Hypertension"
+ },
+ {
+ "code" : "HP:0001278",
+ "display" : "Orthostatic hypotension"
+ },
+ {
+ "code" : "HP:0001944",
+ "display" : "Dehydration"
+ },
+ {
+ "code" : "HP:0001945",
+ "display" : "Fever"
+ },
+ {
+ "code" : "HP:0002019",
+ "display" : "Constipation"
+ },
+ {
+ "code" : "HP:0002020",
+ "display" : "Gastroesophageal reflux"
+ },
+ {
+ "code" : "HP:0002027",
+ "display" : "Abdominal pain"
+ },
+ {
+ "code" : "HP:0002718",
+ "display" : "Recurrent bacterial infections"
+ },
+ {
+ "code" : "HP:0002841",
+ "display" : "Recurrent fungal infections"
+ },
+ {
+ "code" : "HP:0004395",
+ "display" : "Malnutrition"
+ },
+ {
+ "code" : "HP:0009830",
+ "display" : "Peripheral neuropathy"
+ },
+ {
+ "code" : "HP:0000126",
+ "display" : "Hydronephrosis"
+ },
+ {
+ "code" : "HP:0000519",
+ "display" : "Developmental cataract"
+ },
+ {
+ "code" : "HP:0000648",
+ "display" : "Optic atrophy"
+ },
+ {
+ "code" : "HP:0001053",
+ "display" : "Hypopigmented skin patches"
+ },
+ {
+ "code" : "HP:0001087",
+ "display" : "Developmental glaucoma"
+ },
+ {
+ "code" : "HP:0002119",
+ "display" : "Ventriculomegaly"
+ },
+ {
+ "code" : "HP:0002280",
+ "display" : "Enlarged cisterna magna"
+ },
+ {
+ "code" : "HP:0003298",
+ "display" : "Spina bifida occulta"
+ },
+ {
+ "code" : "HP:0004467",
+ "display" : "Preauricular pit"
+ },
+ {
+ "code" : "HP:0008511",
+ "display" : "Central posterior corneal opacity"
+ },
+ {
+ "code" : "HP:0010780",
+ "display" : "Hyperacusis"
+ },
+ {
+ "code" : "HP:0030048",
+ "display" : "Colpocephaly"
+ },
+ {
+ "code" : "HP:0100335",
+ "display" : "Non-midline cleft lip"
+ },
+ {
+ "code" : "HP:0000525",
+ "display" : "Abnormality iris morphology"
+ },
+ {
+ "code" : "HP:0002719",
+ "display" : "Recurrent infections"
+ },
+ {
+ "code" : "HP:0000153",
+ "display" : "Abnormality of the mouth"
+ },
+ {
+ "code" : "HP:0001903",
+ "display" : "Anemia"
+ },
+ {
+ "code" : "HP:0002094",
+ "display" : "Dyspnea"
+ },
+ {
+ "code" : "HP:0002206",
+ "display" : "Pulmonary fibrosis"
+ },
+ {
+ "code" : "HP:0002789",
+ "display" : "Tachypnea"
+ },
+ {
+ "code" : "HP:0002793",
+ "display" : "Abnormal pattern of respiration"
+ },
+ {
+ "code" : "HP:0003565",
+ "display" : "Elevated erythrocyte sedimentation rate"
+ },
+ {
+ "code" : "HP:0006517",
+ "display" : "Intraalveolar phospholipid accumulation"
+ },
+ {
+ "code" : "HP:0006530",
+ "display" : "Interstitial pulmonary abnormality"
+ },
+ {
+ "code" : "HP:0100759",
+ "display" : "Clubbing of fingers"
+ },
+ {
+ "code" : "HP:0002103",
+ "display" : "Abnormal pleura morphology"
+ },
+ {
+ "code" : "HP:0001596",
+ "display" : "Alopecia"
+ },
+ {
+ "code" : "HP:0001882",
+ "display" : "Leukopenia"
+ },
+ {
+ "code" : "HP:0002013",
+ "display" : "Vomiting"
+ },
+ {
+ "code" : "HP:0002028",
+ "display" : "Chronic diarrhea"
+ },
+ {
+ "code" : "HP:0002573",
+ "display" : "Hematochezia"
+ },
+ {
+ "code" : "HP:0002960",
+ "display" : "Autoimmunity"
+ },
+ {
+ "code" : "HP:0005387",
+ "display" : "Combined immunodeficiency"
+ },
+ {
+ "code" : "HP:0011109",
+ "display" : "Chronic sinusitis"
+ },
+ {
+ "code" : "HP:0004429",
+ "display" : "Recurrent viral infections"
+ },
+ {
+ "code" : "HP:0000280",
+ "display" : "Coarse facial features"
+ },
+ {
+ "code" : "HP:0000294",
+ "display" : "Low anterior hairline"
+ },
+ {
+ "code" : "HP:0000577",
+ "display" : "Exotropia"
+ },
+ {
+ "code" : "HP:0001873",
+ "display" : "Thrombocytopenia"
+ },
+ {
+ "code" : "HP:0002011",
+ "display" : "Morphological central nervous system abnormality"
+ },
+ {
+ "code" : "HP:0006610",
+ "display" : "Wide intermamillary distance"
+ },
+ {
+ "code" : "HP:0011231",
+ "display" : "Prominent eyelashes"
+ },
+ {
+ "code" : "HP:0012718",
+ "display" : "Morphological abnormality of the gastrointestinal tract"
+ },
+ {
+ "code" : "HP:0002024",
+ "display" : "Malabsorption"
+ },
+ {
+ "code" : "HP:0001394",
+ "display" : "Cirrhosis"
+ },
+ {
+ "code" : "HP:0001414",
+ "display" : "Microvesicular hepatic steatosis"
+ },
+ {
+ "code" : "HP:0001403",
+ "display" : "Macrovesicular hepatic steatosis"
+ },
+ {
+ "code" : "HP:0001410",
+ "display" : "Decreased liver function"
+ },
+ {
+ "code" : "HP:0001409",
+ "display" : "Portal hypertension"
+ },
+ {
+ "code" : "HP:0001744",
+ "display" : "Splenomegaly"
+ },
+ {
+ "code" : "HP:0003394",
+ "display" : "Muscle spasm"
+ },
+ {
+ "code" : "HP:0003750",
+ "display" : "Increased muscle fatiguability"
+ },
+ {
+ "code" : "HP:0002123",
+ "display" : "Generalized myoclonic seizure"
+ },
+ {
+ "code" : "HP:0002219",
+ "display" : "Facial hypertrichosis"
+ },
+ {
+ "code" : "HP:0000831",
+ "display" : "Insulin-resistant diabetes mellitus"
+ },
+ {
+ "code" : "HP:0001891",
+ "display" : "Iron deficiency anemia"
+ },
+ {
+ "code" : "HP:0001264",
+ "display" : "Spastic diplegia"
+ },
+ {
+ "code" : "HP:0002313",
+ "display" : "Spastic paraparesis"
+ },
+ {
+ "code" : "HP:0001347",
+ "display" : "Hyperreflexia"
+ },
+ {
+ "code" : "HP:0002460",
+ "display" : "Distal muscle weakness"
+ },
+ {
+ "code" : "HP:0000763",
+ "display" : "Sensory neuropathy"
+ },
+ {
+ "code" : "HP:0001268",
+ "display" : "Mental deterioration"
+ },
+ {
+ "code" : "HP:0002169",
+ "display" : "Clonus"
+ },
+ {
+ "code" : "HP:0001332",
+ "display" : "Dystonia"
+ },
+ {
+ "code" : "HP:0100716",
+ "display" : "Self-injurious behavior"
+ },
+ {
+ "code" : "HP:0000602",
+ "display" : "Ophthalmoplegia"
+ },
+ {
+ "code" : "HP:0001251",
+ "display" : "Ataxia"
+ },
+ {
+ "code" : "HP:0000776",
+ "display" : "Congenital diaphragmatic hernia"
+ },
+ {
+ "code" : "HP:0000410",
+ "display" : "Mixed hearing impairment"
+ },
+ {
+ "code" : "HP:0000510",
+ "display" : "Rod-cone dystrophy"
+ },
+ {
+ "code" : "HP:0004437",
+ "display" : "Cranial hyperostosis"
+ },
+ {
+ "code" : "HP:0011001",
+ "display" : "Increased bone mineral density"
+ },
+ {
+ "code" : "HP:0000956",
+ "display" : "Acanthosis nigricans"
+ },
+ {
+ "code" : "HP:0000958",
+ "display" : "Dry skin"
+ },
+ {
+ "code" : "HP:0000580",
+ "display" : "Pigmentary retinopathy"
+ },
+ {
+ "code" : "HP:0000649",
+ "display" : "Abnormality of visual evoked potentials"
+ },
+ {
+ "code" : "HP:0000657",
+ "display" : "Oculomotor apraxia"
+ },
+ {
+ "code" : "HP:0000479",
+ "display" : "Abnormal retinal morphology"
+ },
+ {
+ "code" : "HP:0001317",
+ "display" : "Abnormal cerebellum morphology"
+ },
+ {
+ "code" : "HP:0001533",
+ "display" : "Slender build"
+ },
+ {
+ "code" : "HP:0001629",
+ "display" : "Ventricular septal defect"
+ },
+ {
+ "code" : "HP:0000703",
+ "display" : "Dentinogenesis imperfecta"
+ },
+ {
+ "code" : "HP:0000914",
+ "display" : "Shield chest"
+ },
+ {
+ "code" : "HP:0001500",
+ "display" : "Broad finger"
+ },
+ {
+ "code" : "HP:0003086",
+ "display" : "Acromesomelia"
+ },
+ {
+ "code" : "HP:0003416",
+ "display" : "Spinal canal stenosis"
+ },
+ {
+ "code" : "HP:0002815",
+ "display" : "Abnormality of the knee"
+ },
+ {
+ "code" : "HP:0002992",
+ "display" : "Abnormality of tibia morphology"
+ },
+ {
+ "code" : "HP:0001639",
+ "display" : "Hypertrophic cardiomyopathy"
+ },
+ {
+ "code" : "HP:0003236",
+ "display" : "Elevated serum creatine kinase"
+ },
+ {
+ "code" : "HP:0001369",
+ "display" : "Arthritis"
+ },
+ {
+ "code" : "HP:0003560",
+ "display" : "Muscular dystrophy"
+ },
+ {
+ "code" : "HP:0003974",
+ "display" : "Absent radius"
+ },
+ {
+ "code" : "HP:0002818",
+ "display" : "Abnormality of the radius"
+ },
+ {
+ "code" : "HP:0001561",
+ "display" : "Polyhydramnios"
+ },
+ {
+ "code" : "HP:0002299",
+ "display" : "Brittle hair"
+ },
+ {
+ "code" : "HP:0002208",
+ "display" : "Coarse hair"
+ },
+ {
+ "code" : "HP:0002213",
+ "display" : "Fine hair"
+ },
+ {
+ "code" : "HP:0000522",
+ "display" : "Alacrima"
+ },
+ {
+ "code" : "HP:0100704",
+ "display" : "Cerebral visual impairment"
+ },
+ {
+ "code" : "HP:0012713",
+ "display" : "Moderate hearing impairment"
+ },
+ {
+ "code" : "HP:0002307",
+ "display" : "Drooling"
+ },
+ {
+ "code" : "HP:0002714",
+ "display" : "Downturned corners of mouth"
+ },
+ {
+ "code" : "HP:0000191",
+ "display" : "Accessory oral frenulum"
+ },
+ {
+ "code" : "HP:0000158",
+ "display" : "Macroglossia"
+ },
+ {
+ "code" : "HP:0012020",
+ "display" : "Right aortic arch"
+ },
+ {
+ "code" : "HP:0002104",
+ "display" : "Apnea"
+ },
+ {
+ "code" : "HP:0000598",
+ "display" : "Abnormality of the ear"
+ },
+ {
+ "code" : "HP:0007874",
+ "display" : "Almond-shaped palpebral fissure"
+ },
+ {
+ "code" : "HP:0010804",
+ "display" : "Tented upper lip vermilion"
+ },
+ {
+ "code" : "HP:0000885",
+ "display" : "Broad ribs"
+ },
+ {
+ "code" : "HP:0000768",
+ "display" : "Pectus carinatum"
+ },
+ {
+ "code" : "HP:0001680",
+ "display" : "Coarctation of aorta"
+ },
+ {
+ "code" : "HP:0000687",
+ "display" : "Widely spaced teeth"
+ },
+ {
+ "code" : "HP:0000047",
+ "display" : "Hypospadias"
+ },
+ {
+ "code" : "HP:0001943",
+ "display" : "Hypoglycemia"
+ },
+ {
+ "code" : "HP:0012369",
+ "display" : "Abnormality of malar bones"
+ },
+ {
+ "code" : "HP:0009900",
+ "display" : "Unilateral deafness"
+ },
+ {
+ "code" : "HP:0000023",
+ "display" : "Inguinal hernia"
+ },
+ {
+ "code" : "HP:0000074",
+ "display" : "Ureteropelvic junction obstruction"
+ },
+ {
+ "code" : "HP:0001800",
+ "display" : "Hypoplastic toenails"
+ },
+ {
+ "code" : "HP:0001804",
+ "display" : "Hypoplastic fingernail"
+ },
+ {
+ "code" : "HP:0002949",
+ "display" : "Fused cervical vertebrae"
+ },
+ {
+ "code" : "HP:0008050",
+ "display" : "Abnormality of the palpebral fissures"
+ },
+ {
+ "code" : "HP:0008577",
+ "display" : "Underfolded helix"
+ },
+ {
+ "code" : "HP:0008589",
+ "display" : "Hypoplastic helices"
+ },
+ {
+ "code" : "HP:0010863",
+ "display" : "Receptive language delay"
+ },
+ {
+ "code" : "HP:0002282",
+ "display" : "Gray matter heterotopia"
+ },
+ {
+ "code" : "HP:0002085",
+ "display" : "Occipital encephalocele"
+ },
+ {
+ "code" : "HP:0001057",
+ "display" : "Aplasia cutis congenita"
+ },
+ {
+ "code" : "HP:0000211",
+ "display" : "Trismus"
+ },
+ {
+ "code" : "HP:0008422",
+ "display" : "Vertebral wedging"
+ },
+ {
+ "code" : "HP:0003170",
+ "display" : "Abnormality of the acetabulum"
+ },
+ {
+ "code" : "HP:0003272",
+ "display" : "Abnormality of the hip bone"
+ },
+ {
+ "code" : "HP:0003028",
+ "display" : "Abnormality of the ankles"
+ },
+ {
+ "code" : "HP:0003301",
+ "display" : "Irregular vertebral endplates"
+ },
+ {
+ "code" : "HP:0010508",
+ "display" : "Metatarsus valgus"
+ },
+ {
+ "code" : "HP:0009811",
+ "display" : "Abnormality of the elbow"
+ },
+ {
+ "code" : "HP:0000736",
+ "display" : "Short attention span"
+ },
+ {
+ "code" : "HP:0002912",
+ "display" : "Methylmalonic acidemia"
+ },
+ {
+ "code" : "HP:0001941",
+ "display" : "Acidosis"
+ },
+ {
+ "code" : "HP:0001992",
+ "display" : "Organic aciduria"
+ },
+ {
+ "code" : "HP:0009027",
+ "display" : "Foot dorsiflexor weakness"
+ },
+ {
+ "code" : "HP:0002063",
+ "display" : "Rigidity"
+ },
+ {
+ "code" : "HP:0000384",
+ "display" : "Preauricular skin tag"
+ },
+ {
+ "code" : "HP:0200046",
+ "display" : "Cat cry"
+ },
+ {
+ "code" : "HP:0001357",
+ "display" : "Plagiocephaly"
+ },
+ {
+ "code" : "HP:0000670",
+ "display" : "Carious teeth"
+ },
+ {
+ "code" : "HP:0011090",
+ "display" : "Fused teeth"
+ },
+ {
+ "code" : "HP:0012810",
+ "display" : "Wide nasal base"
+ },
+ {
+ "code" : "HP:0010296",
+ "display" : "Ankyloglossia"
+ },
+ {
+ "code" : "HP:0001636",
+ "display" : "Tetralogy of Fallot"
+ },
+ {
+ "code" : "HP:0001305",
+ "display" : "Dandy-Walker malformation"
+ },
+ {
+ "code" : "HP:0000238",
+ "display" : "Hydrocephalus"
+ },
+ {
+ "code" : "HP:0005469",
+ "display" : "Flat occiput"
+ },
+ {
+ "code" : "HP:0000270",
+ "display" : "Delayed cranial suture closure"
+ },
+ {
+ "code" : "HP:0000239",
+ "display" : "Large fontanelles"
+ },
+ {
+ "code" : "HP:0010537",
+ "display" : "Wide cranial sutures"
+ },
+ {
+ "code" : "HP:0002217",
+ "display" : "Slow-growing hair"
+ },
+ {
+ "code" : "HP:0000587",
+ "display" : "Abnormality of the optic nerve"
+ },
+ {
+ "code" : "HP:0005989",
+ "display" : "Redundant neck skin"
+ },
+ {
+ "code" : "HP:0010775",
+ "display" : "Vascular ring"
+ },
+ {
+ "code" : "HP:0002779",
+ "display" : "Tracheomalacia"
+ },
+ {
+ "code" : "HP:0002827",
+ "display" : "Hip dislocation"
+ },
+ {
+ "code" : "HP:0001302",
+ "display" : "Pachygyria"
+ },
+ {
+ "code" : "HP:0007362",
+ "display" : "Aplasia/Hypoplasia of the brainstem"
+ },
+ {
+ "code" : "HP:0001558",
+ "display" : "Decreased fetal movement"
+ },
+ {
+ "code" : "HP:0010878",
+ "display" : "Fetal cystic hygroma"
+ },
+ {
+ "code" : "HP:0011398",
+ "display" : "Central hypotonia"
+ },
+ {
+ "code" : "HP:0002071",
+ "display" : "Abnormality of extrapyramidal motor function"
+ },
+ {
+ "code" : "HP:0000826",
+ "display" : "Precocious puberty"
+ },
+ {
+ "code" : "HP:0000014",
+ "display" : "Abnormality of the bladder"
+ },
+ {
+ "code" : "HP:0005037",
+ "display" : "Proximal radio-ulnar synostosis"
+ },
+ {
+ "code" : "HP:0100543",
+ "display" : "Cognitive impairment"
+ },
+ {
+ "code" : "HP:0000481",
+ "display" : "Abnormal cornea morphology"
+ },
+ {
+ "code" : "HP:0000076",
+ "display" : "Vesicoureteral reflux"
+ },
+ {
+ "code" : "HP:0000297",
+ "display" : "Facial hypotonia"
+ },
+ {
+ "code" : "HP:0000391",
+ "display" : "Thickened helices"
+ },
+ {
+ "code" : "HP:0001162",
+ "display" : "Postaxial hand polydactyly"
+ },
+ {
+ "code" : "HP:0001385",
+ "display" : "Hip dysplasia"
+ },
+ {
+ "code" : "HP:0002342",
+ "display" : "Intellectual disability, moderate"
+ },
+ {
+ "code" : "HP:0003191",
+ "display" : "Cleft ala nasi"
+ },
+ {
+ "code" : "HP:0009765",
+ "display" : "Low hanging columella"
+ },
+ {
+ "code" : "HP:0010297",
+ "display" : "Bifid tongue"
+ },
+ {
+ "code" : "HP:0011330",
+ "display" : "Metopic synostosis"
+ },
+ {
+ "code" : "HP:0012804",
+ "display" : "Corneal ulceration"
+ },
+ {
+ "code" : "HP:0010485",
+ "display" : "Hyperextensibility at elbow"
+ },
+ {
+ "code" : "HP:0000609",
+ "display" : "Optic nerve hypoplasia"
+ },
+ {
+ "code" : "HP:0001176",
+ "display" : "Large hands"
+ },
+ {
+ "code" : "HP:0004233",
+ "display" : "Advanced ossification of carpal bones"
+ },
+ {
+ "code" : "HP:0100842",
+ "display" : "Septo-optic dysplasia"
+ },
+ {
+ "code" : "HP:0002034",
+ "display" : "Abnormality of the rectum"
+ },
+ {
+ "code" : "HP:0002283",
+ "display" : "Global brain atrophy"
+ },
+ {
+ "code" : "HP:0003115",
+ "display" : "Abnormal EKG"
+ },
+ {
+ "code" : "HP:0002577",
+ "display" : "Abnormal stomach morphology"
+ },
+ {
+ "code" : "HP:0002539",
+ "display" : "Cortical dysplasia"
+ },
+ {
+ "code" : "HP:0006818",
+ "display" : "4-layered lissencephaly"
+ },
+ {
+ "code" : "HP:0000593",
+ "display" : "Abnormal anterior chamber morphology"
+ },
+ {
+ "code" : "HP:0000179",
+ "display" : "Thick lower lip vermilion"
+ },
+ {
+ "code" : "HP:0002002",
+ "display" : "Deep philtrum"
+ },
+ {
+ "code" : "HP:0009931",
+ "display" : "Enlarged naris"
+ },
+ {
+ "code" : "HP:0002948",
+ "display" : "Vertebral fusion"
+ },
+ {
+ "code" : "HP:0002937",
+ "display" : "Hemivertebrae"
+ },
+ {
+ "code" : "HP:0002308",
+ "display" : "Arnold-Chiari malformation"
+ },
+ {
+ "code" : "HP:0011320",
+ "display" : "Unilambdoid synostosis"
+ },
+ {
+ "code" : "HP:0002781",
+ "display" : "Upper airway obstruction"
+ },
+ {
+ "code" : "HP:0001363",
+ "display" : "Craniosynostosis"
+ },
+ {
+ "code" : "HP:0000204",
+ "display" : "Cleft upper lip"
+ },
+ {
+ "code" : "HP:0001738",
+ "display" : "Exocrine pancreatic insufficiency"
+ },
+ {
+ "code" : "HP:0002823",
+ "display" : "Abnormality of femur morphology"
+ },
+ {
+ "code" : "HP:0000823",
+ "display" : "Delayed puberty"
+ },
+ {
+ "code" : "HP:0100279",
+ "display" : "Ulcerative colitis"
+ },
+ {
+ "code" : "HP:0003834",
+ "display" : "Shoulder dislocation"
+ },
+ {
+ "code" : "HP:0001065",
+ "display" : "Striae distensae"
+ },
+ {
+ "code" : "HP:0000448",
+ "display" : "Prominent nose"
+ },
+ {
+ "code" : "HP:0000554",
+ "display" : "Uveitis"
+ },
+ {
+ "code" : "HP:0001006",
+ "display" : "obsolete Hypotrichosis"
+ },
+ {
+ "code" : "HP:0000501",
+ "display" : "Glaucoma"
+ },
+ {
+ "code" : "HP:0000262",
+ "display" : "Turricephaly"
+ },
+ {
+ "code" : "HP:0000729",
+ "display" : "Autistic behavior"
+ },
+ {
+ "code" : "HP:0010800",
+ "display" : "Absent cupid's bow"
+ },
+ {
+ "code" : "HP:0010808",
+ "display" : "Protruding tongue"
+ },
+ {
+ "code" : "HP:0009927",
+ "display" : "Aplasia of the nose"
+ },
+ {
+ "code" : "HP:0100539",
+ "display" : "Periorbital edema"
+ },
+ {
+ "code" : "HP:0000629",
+ "display" : "Periorbital fullness"
+ },
+ {
+ "code" : "HP:0000178",
+ "display" : "Abnormality of lower lip"
+ },
+ {
+ "code" : "HP:0000168",
+ "display" : "Abnormality of the gingiva"
+ },
+ {
+ "code" : "HP:0001022",
+ "display" : "Albinism"
+ },
+ {
+ "code" : "HP:0000177",
+ "display" : "Abnormality of upper lip"
+ },
+ {
+ "code" : "HP:0001337",
+ "display" : "Tremor"
+ },
+ {
+ "code" : "HP:0002135",
+ "display" : "Basal ganglia calcification"
+ },
+ {
+ "code" : "HP:0002352",
+ "display" : "Leukoencephalopathy"
+ },
+ {
+ "code" : "HP:0002514",
+ "display" : "Cerebral calcification"
+ },
+ {
+ "code" : "HP:0010576",
+ "display" : "Intracranial cystic lesion"
+ },
+ {
+ "code" : "HP:0001622",
+ "display" : "Premature birth"
+ },
+ {
+ "code" : "HP:0002415",
+ "display" : "Leukodystrophy"
+ },
+ {
+ "code" : "HP:0001320",
+ "display" : "Cerebellar vermis hypoplasia"
+ },
+ {
+ "code" : "HP:0001773",
+ "display" : "Short foot"
+ },
+ {
+ "code" : "HP:0002750",
+ "display" : "Delayed skeletal maturation"
+ },
+ {
+ "code" : "HP:0004415",
+ "display" : "Pulmonary artery stenosis"
+ },
+ {
+ "code" : "HP:0012741",
+ "display" : "Unilateral cryptorchidism"
+ },
+ {
+ "code" : "HP:0000036",
+ "display" : "Abnormality of the penis"
+ },
+ {
+ "code" : "HP:0002408",
+ "display" : "Cerebral arteriovenous malformation"
+ },
+ {
+ "code" : "HP:0007457",
+ "display" : "Prominent veins on trunk"
+ },
+ {
+ "code" : "HP:0000378",
+ "display" : "Cupped ear"
+ },
+ {
+ "code" : "HP:0000396",
+ "display" : "Overfolded helix"
+ },
+ {
+ "code" : "HP:0000035",
+ "display" : "Abnormal testis morphology"
+ },
+ {
+ "code" : "HP:0009895",
+ "display" : "Abnormality of the crus of the helix"
+ },
+ {
+ "code" : "HP:0000034",
+ "display" : "Hydrocele testis"
+ },
+ {
+ "code" : "HP:0000722",
+ "display" : "Obsessive-compulsive behavior"
+ },
+ {
+ "code" : "HP:0000845",
+ "display" : "Growth hormone excess"
+ },
+ {
+ "code" : "HP:0100829",
+ "display" : "Galactorrhea"
+ },
+ {
+ "code" : "HP:0001578",
+ "display" : "Increased circulating cortisol level"
+ },
+ {
+ "code" : "HP:0000786",
+ "display" : "Primary amenorrhea"
+ },
+ {
+ "code" : "HP:0001701",
+ "display" : "Pericarditis"
+ },
+ {
+ "code" : "HP:0002076",
+ "display" : "Migraine"
+ },
+ {
+ "code" : "HP:0004755",
+ "display" : "Supraventricular tachycardia"
+ },
+ {
+ "code" : "HP:0010522",
+ "display" : "Dyslexia"
+ },
+ {
+ "code" : "HP:0004313",
+ "display" : "Decreased circulating antibody level"
+ },
+ {
+ "code" : "HP:0000011",
+ "display" : "Neurogenic bladder"
+ },
+ {
+ "code" : "HP:0000641",
+ "display" : "Dysmetric saccades"
+ },
+ {
+ "code" : "HP:0007772",
+ "display" : "Impaired smooth pursuit"
+ },
+ {
+ "code" : "HP:0001583",
+ "display" : "Rotary nystagmus"
+ },
+ {
+ "code" : "HP:0010544",
+ "display" : "Vertical nystagmus"
+ },
+ {
+ "code" : "HP:0012735",
+ "display" : "Cough"
+ },
+ {
+ "code" : "HP:0002075",
+ "display" : "Dysdiadochokinesis"
+ },
+ {
+ "code" : "HP:0007256",
+ "display" : "Abnormal pyramidal sign"
+ },
+ {
+ "code" : "HP:0001257",
+ "display" : "Spasticity"
+ },
+ {
+ "code" : "HP:0002321",
+ "display" : "Vertigo"
+ },
+ {
+ "code" : "HP:0002384",
+ "display" : "Focal impaired awareness seizure"
+ },
+ {
+ "code" : "HP:0011376",
+ "display" : "Morphological abnormality of the vestibule of the inner ear"
+ },
+ {
+ "code" : "HP:0002326",
+ "display" : "Transient ischemic attack"
+ },
+ {
+ "code" : "HP:0005584",
+ "display" : "Renal cell carcinoma"
+ },
+ {
+ "code" : "HP:0003124",
+ "display" : "Hypercholesterolemia"
+ },
+ {
+ "code" : "HP:0003002",
+ "display" : "Breast carcinoma"
+ },
+ {
+ "code" : "HP:0004953",
+ "display" : "obsolete Dilatation of abdominal aorta"
+ },
+ {
+ "code" : "HP:0004944",
+ "display" : "Dilatation of the cerebral artery"
+ },
+ {
+ "code" : "HP:0000100",
+ "display" : "Nephrotic syndrome"
+ },
+ {
+ "code" : "HP:0002783",
+ "display" : "Recurrent lower respiratory tract infections"
+ },
+ {
+ "code" : "HP:0003470",
+ "display" : "Paralysis"
+ },
+ {
+ "code" : "HP:0006597",
+ "display" : "Diaphragmatic paralysis"
+ },
+ {
+ "code" : "HP:0008151",
+ "display" : "Prolonged prothrombin time"
+ },
+ {
+ "code" : "HP:0010628",
+ "display" : "Facial palsy"
+ },
+ {
+ "code" : "HP:0011892",
+ "display" : "Low levels of vitamin K"
+ },
+ {
+ "code" : "HP:0001075",
+ "display" : "Atrophic scars"
+ },
+ {
+ "code" : "HP:0001816",
+ "display" : "Thin nail"
+ },
+ {
+ "code" : "HP:0002216",
+ "display" : "Premature graying of hair"
+ },
+ {
+ "code" : "HP:0003401",
+ "display" : "Paresthesia"
+ },
+ {
+ "code" : "HP:0100134",
+ "display" : "Abnormality of the axillary hair"
+ },
+ {
+ "code" : "HP:0100797",
+ "display" : "Toenail dysplasia"
+ },
+ {
+ "code" : "HP:0010461",
+ "display" : "Abnormality of the male genitalia"
+ },
+ {
+ "code" : "HP:0000044",
+ "display" : "Hypogonadotropic hypogonadism"
+ },
+ {
+ "code" : "HP:0100568",
+ "display" : "Neoplasm of the endocrine system"
+ },
+ {
+ "code" : "HP:0001646",
+ "display" : "Abnormal aortic valve morphology"
+ },
+ {
+ "code" : "HP:0000813",
+ "display" : "Bicornuate uterus"
+ },
+ {
+ "code" : "HP:0004380",
+ "display" : "Aortic valve calcification"
+ },
+ {
+ "code" : "HP:0001650",
+ "display" : "Aortic valve stenosis"
+ },
+ {
+ "code" : "HP:0000073",
+ "display" : "Ureteral duplication"
+ },
+ {
+ "code" : "HP:0100651",
+ "display" : "Type I diabetes mellitus"
+ },
+ {
+ "code" : "HP:0000819",
+ "display" : "Diabetes mellitus"
+ },
+ {
+ "code" : "HP:0000573",
+ "display" : "Retinal hemorrhage"
+ },
+ {
+ "code" : "HP:0005264",
+ "display" : "Abnormality of the gallbladder"
+ },
+ {
+ "code" : "HP:0000475",
+ "display" : "Broad neck"
+ },
+ {
+ "code" : "HP:0000089",
+ "display" : "Renal hypoplasia"
+ },
+ {
+ "code" : "HP:0000921",
+ "display" : "Missing ribs"
+ },
+ {
+ "code" : "HP:0001789",
+ "display" : "Hydrops fetalis"
+ },
+ {
+ "code" : "HP:0002089",
+ "display" : "Pulmonary hypoplasia"
+ },
+ {
+ "code" : "HP:0003422",
+ "display" : "Vertebral segmentation defect"
+ },
+ {
+ "code" : "HP:0002323",
+ "display" : "Anencephaly"
+ },
+ {
+ "code" : "HP:0000341",
+ "display" : "Narrow forehead"
+ },
+ {
+ "code" : "HP:0002869",
+ "display" : "Flared iliac wings"
+ },
+ {
+ "code" : "HP:0003100",
+ "display" : "Slender long bone"
+ },
+ {
+ "code" : "HP:0003275",
+ "display" : "Narrow pelvis bone"
+ },
+ {
+ "code" : "HP:0009891",
+ "display" : "Underdeveloped supraorbital ridges"
+ },
+ {
+ "code" : "HP:0011039",
+ "display" : "Abnormality of the helix"
+ },
+ {
+ "code" : "HP:0008572",
+ "display" : "External ear malformation"
+ },
+ {
+ "code" : "HP:0009738",
+ "display" : "Abnormality of the antihelix"
+ },
+ {
+ "code" : "HP:0011328",
+ "display" : "Abnormality of fontanelles"
+ },
+ {
+ "code" : "HP:0012155",
+ "display" : "Decreased corneal sensation"
+ },
+ {
+ "code" : "HP:0004602",
+ "display" : "Cervical C2/C3 vertebral fusion"
+ },
+ {
+ "code" : "HP:0002997",
+ "display" : "Abnormality of the ulna"
+ },
+ {
+ "code" : "HP:0009777",
+ "display" : "Absent thumb"
+ },
+ {
+ "code" : "HP:0002893",
+ "display" : "Pituitary adenoma"
+ },
+ {
+ "code" : "HP:0040278",
+ "display" : "Prolactinoma"
+ },
+ {
+ "code" : "HP:0001555",
+ "display" : "Asymmetry of the thorax"
+ },
+ {
+ "code" : "HP:0000902",
+ "display" : "Rib fusion"
+ },
+ {
+ "code" : "HP:0002164",
+ "display" : "Nail dysplasia"
+ },
+ {
+ "code" : "HP:0011314",
+ "display" : "Abnormality of long bone morphology"
+ },
+ {
+ "code" : "HP:0002867",
+ "display" : "Abnormality of the ilium"
+ },
+ {
+ "code" : "HP:0000774",
+ "display" : "Narrow chest"
+ },
+ {
+ "code" : "HP:0006482",
+ "display" : "Abnormality of dental morphology"
+ },
+ {
+ "code" : "HP:0004383",
+ "display" : "Hypoplastic left heart"
+ },
+ {
+ "code" : "HP:0002015",
+ "display" : "Dysphagia"
+ },
+ {
+ "code" : "HP:0500093",
+ "display" : "Food allergy"
+ },
+ {
+ "code" : "HP:0001519",
+ "display" : "Disproportionate tall stature"
+ },
+ {
+ "code" : "HP:0003179",
+ "display" : "Protrusio acetabuli"
+ },
+ {
+ "code" : "HP:0007385",
+ "display" : "Aplasia cutis congenita of scalp"
+ },
+ {
+ "code" : "HP:0000716",
+ "display" : "Depressivity"
+ },
+ {
+ "code" : "HP:0012583",
+ "display" : "Unilateral renal hypoplasia"
+ },
+ {
+ "code" : "HP:0000618",
+ "display" : "Blindness"
+ },
+ {
+ "code" : "HP:0001004",
+ "display" : "Lymphedema"
+ },
+ {
+ "code" : "HP:0002652",
+ "display" : "Skeletal dysplasia"
+ },
+ {
+ "code" : "HP:0012520",
+ "display" : "Perivascular spaces"
+ },
+ {
+ "code" : "HP:0005293",
+ "display" : "Venous insufficiency"
+ },
+ {
+ "code" : "HP:0012432",
+ "display" : "Chronic fatigue"
+ },
+ {
+ "code" : "HP:0002578",
+ "display" : "Gastroparesis"
+ },
+ {
+ "code" : "HP:0001658",
+ "display" : "Myocardial infarction"
+ },
+ {
+ "code" : "HP:0001802",
+ "display" : "Absent toenail"
+ },
+ {
+ "code" : "HP:0001821",
+ "display" : "Broad nail"
+ },
+ {
+ "code" : "HP:0000807",
+ "display" : "Glandular hypospadias"
+ },
+ {
+ "code" : "HP:0100582",
+ "display" : "Nasal polyposis"
+ },
+ {
+ "code" : "HP:0002653",
+ "display" : "Bone pain"
+ },
+ {
+ "code" : "HP:0001073",
+ "display" : "Cigarette-paper scars"
+ },
+ {
+ "code" : "HP:0031913",
+ "display" : "Rhombencephalosynapsis"
+ },
+ {
+ "code" : "HP:0002617",
+ "display" : "Dilatation"
+ },
+ {
+ "code" : "HP:0005107",
+ "display" : "Abnormal sacrum morphology"
+ },
+ {
+ "code" : "HP:0002025",
+ "display" : "Anal stenosis"
+ },
+ {
+ "code" : "HP:0009099",
+ "display" : "Median cleft palate"
+ },
+ {
+ "code" : "HP:0003212",
+ "display" : "Increased circulating IgE level"
+ },
+ {
+ "code" : "HP:0001319",
+ "display" : "Neonatal hypotonia"
+ },
+ {
+ "code" : "HP:0002659",
+ "display" : "Increased susceptibility to fractures"
+ },
+ {
+ "code" : "HP:0025246",
+ "display" : "Trichilemmal cyst"
+ },
+ {
+ "code" : "HP:0002107",
+ "display" : "Pneumothorax"
+ },
+ {
+ "code" : "HP:0000107",
+ "display" : "Renal cyst"
+ },
+ {
+ "code" : "HP:0001025",
+ "display" : "Urticaria"
+ },
+ {
+ "code" : "HP:0002204",
+ "display" : "Pulmonary embolism"
+ },
+ {
+ "code" : "HP:0001058",
+ "display" : "Poor wound healing"
+ },
+ {
+ "code" : "HP:0003010",
+ "display" : "Prolonged bleeding time"
+ },
+ {
+ "code" : "HP:0100502",
+ "display" : "Vitamin B12 deficiency"
+ },
+ {
+ "code" : "HP:0100510",
+ "display" : "Low levels of vitamin C"
+ },
+ {
+ "code" : "HP:0030976",
+ "display" : "Abnormal factor VIII activity"
+ },
+ {
+ "code" : "HP:0100789",
+ "display" : "Torus palatinus"
+ },
+ {
+ "code" : "HP:0000108",
+ "display" : "Renal corticomedullary cysts"
+ },
+ {
+ "code" : "HP:0000072",
+ "display" : "Hydroureter"
+ },
+ {
+ "code" : "HP:0000019",
+ "display" : "Urinary hesitancy"
+ },
+ {
+ "code" : "HP:0100771",
+ "display" : "Hypoperistalsis"
+ },
+ {
+ "code" : "HP:0000021",
+ "display" : "Megacystis"
+ },
+ {
+ "code" : "HP:0004388",
+ "display" : "Microcolon"
+ },
+ {
+ "code" : "HP:0005247",
+ "display" : "Hypoplasia of the abdominal wall musculature"
+ },
+ {
+ "code" : "HP:0004794",
+ "display" : "Malrotation of small bowel"
+ },
+ {
+ "code" : "HP:0000045",
+ "display" : "Abnormality of the scrotum"
+ },
+ {
+ "code" : "HP:0002236",
+ "display" : "Frontal upsweep of hair"
+ },
+ {
+ "code" : "HP:0000212",
+ "display" : "Gingival overgrowth"
+ },
+ {
+ "code" : "HP:0001808",
+ "display" : "Fragile nails"
+ },
+ {
+ "code" : "HP:0000225",
+ "display" : "Gingival bleeding"
+ },
+ {
+ "code" : "HP:0006009",
+ "display" : "Broad phalanx"
+ },
+ {
+ "code" : "HP:0001837",
+ "display" : "Broad toe"
+ },
+ {
+ "code" : "HP:0001946",
+ "display" : "Ketosis"
+ },
+ {
+ "code" : "HP:0002490",
+ "display" : "Increased CSF lactate"
+ },
+ {
+ "code" : "HP:0002922",
+ "display" : "Increased CSF protein"
+ },
+ {
+ "code" : "HP:0003128",
+ "display" : "Lactic acidosis"
+ },
+ {
+ "code" : "HP:0003111",
+ "display" : "Abnormal blood ion concentration"
+ },
+ {
+ "code" : "HP:0032234",
+ "display" : "Increased circulating creatine kinase MM isoform"
+ },
+ {
+ "code" : "HP:0003348",
+ "display" : "Hyperalaninemia"
+ },
+ {
+ "code" : "HP:0008347",
+ "display" : "Decreased activity of mitochondrial complex IV"
+ },
+ {
+ "code" : "HP:0000326",
+ "display" : "Abnormality of the maxilla"
+ },
+ {
+ "code" : "HP:0010758",
+ "display" : "Abnormality of the premaxilla"
+ },
+ {
+ "code" : "HP:0005681",
+ "display" : "Juvenile rheumatoid arthritis"
+ },
+ {
+ "code" : "HP:0000514",
+ "display" : "Slow saccadic eye movements"
+ },
+ {
+ "code" : "HP:0002788",
+ "display" : "Recurrent upper respiratory tract infections"
+ },
+ {
+ "code" : "HP:0003396",
+ "display" : "Syringomyelia"
+ },
+ {
+ "code" : "HP:0003011",
+ "display" : "Abnormality of the musculature"
+ },
+ {
+ "code" : "HP:0002098",
+ "display" : "Respiratory distress"
+ },
+ {
+ "code" : "HP:0002018",
+ "display" : "Nausea"
+ },
+ {
+ "code" : "HP:0002014",
+ "display" : "Diarrhea"
+ },
+ {
+ "code" : "HP:0025168",
+ "display" : "Left ventricular diastolic dysfunction"
+ },
+ {
+ "code" : "HP:0001679",
+ "display" : "Abnormal aortic morphology"
+ },
+ {
+ "code" : "HP:0000159",
+ "display" : "Abnormal lip morphology"
+ },
+ {
+ "code" : "HP:0011338",
+ "display" : "Abnormality of mouth shape"
+ },
+ {
+ "code" : "HP:0000478",
+ "display" : "Abnormality of the eye"
+ },
+ {
+ "code" : "HP:0000154",
+ "display" : "Wide mouth"
+ },
+ {
+ "code" : "HP:0001513",
+ "display" : "Obesity"
+ },
+ {
+ "code" : "HP:0002475",
+ "display" : "Myelomeningocele"
+ },
+ {
+ "code" : "HP:0003765",
+ "display" : "Psoriasiform dermatitis"
+ },
+ {
+ "code" : "HP:0010289",
+ "display" : "Cleft of alveolar ridge of maxilla"
+ },
+ {
+ "code" : "HP:0003908",
+ "display" : "Corner fracture of metaphysis"
+ },
+ {
+ "code" : "HP:0002190",
+ "display" : "Choroid plexus cyst"
+ },
+ {
+ "code" : "HP:0004370",
+ "display" : "Abnormality of temperature regulation"
+ },
+ {
+ "code" : "HP:0011611",
+ "display" : "Interrupted aortic arch"
+ },
+ {
+ "code" : "HP:0000737",
+ "display" : "Irritability"
+ },
+ {
+ "code" : "HP:0001344",
+ "display" : "Absent speech"
+ },
+ {
+ "code" : "HP:0002376",
+ "display" : "Developmental regression"
+ },
+ {
+ "code" : "HP:0002140",
+ "display" : "Ischemic stroke"
+ },
+ {
+ "code" : "HP:0001287",
+ "display" : "Meningitis"
+ },
+ {
+ "code" : "HP:0002721",
+ "display" : "Immunodeficiency"
+ },
+ {
+ "code" : "HP:0000041",
+ "display" : "Chordee"
+ },
+ {
+ "code" : "HP:0012854",
+ "display" : "Midshaft hypospadias"
+ },
+ {
+ "code" : "HP:0000808",
+ "display" : "Penoscrotal hypospadias"
+ },
+ {
+ "code" : "HP:0000048",
+ "display" : "Bifid scrotum"
+ },
+ {
+ "code" : "HP:0001047",
+ "display" : "Atopic dermatitis"
+ },
+ {
+ "code" : "HP:0001621",
+ "display" : "Weak voice"
+ },
+ {
+ "code" : "HP:0002372",
+ "display" : "Normal interictal EEG"
+ },
+ {
+ "code" : "HP:0012803",
+ "display" : "Anisometropia"
+ },
+ {
+ "code" : "HP:0011386",
+ "display" : "Narrow internal auditory canal"
+ },
+ {
+ "code" : "HP:0012714",
+ "display" : "Severe hearing impairment"
+ },
+ {
+ "code" : "HP:0006485",
+ "display" : "Agenesis of incisor"
+ },
+ {
+ "code" : "HP:0000787",
+ "display" : "Nephrolithiasis"
+ },
+ {
+ "code" : "HP:0011332",
+ "display" : "Hemifacial hypoplasia"
+ },
+ {
+ "code" : "HP:0001909",
+ "display" : "Leukemia"
+ },
+ {
+ "code" : "HP:0004808",
+ "display" : "Acute myeloid leukemia"
+ },
+ {
+ "code" : "HP:0006495",
+ "display" : "Aplasia/Hypoplasia of the ulna"
+ },
+ {
+ "code" : "HP:0001180",
+ "display" : "Hand oligodactyly"
+ },
+ {
+ "code" : "HP:0002991",
+ "display" : "Abnormality of fibula morphology"
+ },
+ {
+ "code" : "HP:0001849",
+ "display" : "Foot oligodactyly"
+ },
+ {
+ "code" : "HP:0006507",
+ "display" : "Aplasia/hypoplasia of the humerus"
+ },
+ {
+ "code" : "HP:0005613",
+ "display" : "Aplasia/hypoplasia of the femur"
+ },
+ {
+ "code" : "HP:0006492",
+ "display" : "Aplasia/Hypoplasia of the fibula"
+ },
+ {
+ "code" : "HP:0000098",
+ "display" : "Tall stature"
+ },
+ {
+ "code" : "HP:0003311",
+ "display" : "Hypoplasia of the odontoid process"
+ },
+ {
+ "code" : "HP:0005752",
+ "display" : "Flattened moderately deformed vertebrae"
+ },
+ {
+ "code" : "HP:0030039",
+ "display" : "Fused thoracic vertebrae"
+ },
+ {
+ "code" : "HP:0003304",
+ "display" : "Spondylolysis"
+ },
+ {
+ "code" : "HP:0001659",
+ "display" : "Aortic regurgitation"
+ },
+ {
+ "code" : "HP:0002984",
+ "display" : "Hypoplasia of the radius"
+ },
+ {
+ "code" : "HP:0009944",
+ "display" : "Partial duplication of thumb phalanx"
+ },
+ {
+ "code" : "HP:0005819",
+ "display" : "Short middle phalanx of finger"
+ },
+ {
+ "code" : "HP:0002110",
+ "display" : "Bronchiectasis"
+ },
+ {
+ "code" : "HP:0001677",
+ "display" : "Coronary artery atherosclerosis"
+ },
+ {
+ "code" : "HP:0001737",
+ "display" : "Pancreatic cysts"
+ },
+ {
+ "code" : "HP:0005113",
+ "display" : "Aortic arch aneurysm"
+ },
+ {
+ "code" : "HP:0003022",
+ "display" : "Hypoplasia of the ulna"
+ },
+ {
+ "code" : "HP:0002205",
+ "display" : "Recurrent respiratory infections"
+ },
+ {
+ "code" : "HP:0001669",
+ "display" : "Transposition of the great arteries"
+ },
+ {
+ "code" : "HP:0001716",
+ "display" : "Wolff-Parkinson-White syndrome"
+ },
+ {
+ "code" : "HP:0002758",
+ "display" : "Osteoarthritis"
+ },
+ {
+ "code" : "HP:0002037",
+ "display" : "Inflammation of the large intestine"
+ },
+ {
+ "code" : "HP:0009892",
+ "display" : "Anotia"
+ },
+ {
+ "code" : "HP:0011331",
+ "display" : "Hemifacial atrophy"
+ },
+ {
+ "code" : "HP:0009118",
+ "display" : "Aplasia/Hypoplasia of the mandible"
+ },
+ {
+ "code" : "HP:0009940",
+ "display" : "Asymmetry of the mandible"
+ },
+ {
+ "code" : "HP:0000682",
+ "display" : "Abnormality of dental enamel"
+ },
+ {
+ "code" : "HP:0009908",
+ "display" : "Anterior creases of earlobe"
+ },
+ {
+ "code" : "HP:0001541",
+ "display" : "Ascites"
+ },
+ {
+ "code" : "HP:0006687",
+ "display" : "Aortic tortuosity"
+ },
+ {
+ "code" : "HP:0010535",
+ "display" : "Sleep apnea"
+ },
+ {
+ "code" : "HP:0100633",
+ "display" : "Esophagitis"
+ },
+ {
+ "code" : "HP:0002105",
+ "display" : "Hemoptysis"
+ },
+ {
+ "code" : "HP:0002613",
+ "display" : "Biliary cirrhosis"
+ },
+ {
+ "code" : "HP:0004469",
+ "display" : "Chronic bronchitis"
+ },
+ {
+ "code" : "HP:0002720",
+ "display" : "Decreased circulating IgA level"
+ },
+ {
+ "code" : "HP:0002904",
+ "display" : "Hyperbilirubinemia"
+ },
+ {
+ "code" : "HP:0003237",
+ "display" : "Increased circulating IgG level"
+ },
+ {
+ "code" : "HP:0003262",
+ "display" : "Smooth muscle antibody positivity"
+ },
+ {
+ "code" : "HP:0011227",
+ "display" : "Elevated C-reactive protein level"
+ },
+ {
+ "code" : "HP:0001852",
+ "display" : "Sandal gap"
+ },
+ {
+ "code" : "HP:0004381",
+ "display" : "Supravalvular aortic stenosis"
+ },
+ {
+ "code" : "HP:0100700",
+ "display" : "Abnormal arachnoid mater morphology"
+ },
+ {
+ "code" : "HP:0002624",
+ "display" : "Abnormal venous morphology"
+ },
+ {
+ "code" : "HP:0002289",
+ "display" : "Alopecia universalis"
+ },
+ {
+ "code" : "HP:0009588",
+ "display" : "Vestibular Schwannoma"
+ },
+ {
+ "code" : "HP:0001648",
+ "display" : "Cor pulmonale"
+ },
+ {
+ "code" : "HP:0002091",
+ "display" : "Restrictive ventilatory defect"
+ },
+ {
+ "code" : "HP:0002092",
+ "display" : "Pulmonary arterial hypertension"
+ },
+ {
+ "code" : "HP:0002113",
+ "display" : "Pulmonary infiltrates"
+ },
+ {
+ "code" : "HP:0003138",
+ "display" : "Increased blood urea nitrogen"
+ },
+ {
+ "code" : "HP:0003259",
+ "display" : "Elevated serum creatinine"
+ },
+ {
+ "code" : "HP:0005180",
+ "display" : "Tricuspid regurgitation"
+ },
+ {
+ "code" : "HP:0012585",
+ "display" : "Renal atrophy"
+ },
+ {
+ "code" : "HP:0005133",
+ "display" : "Right ventricular dilatation"
+ },
+ {
+ "code" : "HP:0005575",
+ "display" : "Hemolytic-uremic syndrome"
+ },
+ {
+ "code" : "HP:0001697",
+ "display" : "Abnormal pericardium morphology"
+ },
+ {
+ "code" : "HP:0012486",
+ "display" : "Myelitis"
+ },
+ {
+ "code" : "HP:0002385",
+ "display" : "Paraparesis"
+ },
+ {
+ "code" : "HP:0006706",
+ "display" : "Cystic liver disease"
+ },
+ {
+ "code" : "HP:0010880",
+ "display" : "Increased nuchal translucency"
+ },
+ {
+ "code" : "HP:0000457",
+ "display" : "Depressed nasal ridge"
+ },
+ {
+ "code" : "HP:0002263",
+ "display" : "Exaggerated cupid's bow"
+ },
+ {
+ "code" : "HP:0002500",
+ "display" : "Abnormality of the cerebral white matter"
+ },
+ {
+ "code" : "HP:0002835",
+ "display" : "Aspiration"
+ },
+ {
+ "code" : "HP:0000600",
+ "display" : "Abnormality of the pharynx"
+ },
+ {
+ "code" : "HP:0004327",
+ "display" : "Abnormal vitreous humor morphology"
+ },
+ {
+ "code" : "HP:0004378",
+ "display" : "Abnormality of the anus"
+ },
+ {
+ "code" : "HP:0012374",
+ "display" : "obsolete Abnormal globe morphology"
+ },
+ {
+ "code" : "HP:0100768",
+ "display" : "Choriocarcinoma"
+ },
+ {
+ "code" : "HP:0030991",
+ "display" : "Sclerosing cholangitis"
+ },
+ {
+ "code" : "HP:0006510",
+ "display" : "Chronic pulmonary obstruction"
+ },
+ {
+ "code" : "HP:0000710",
+ "display" : "Hyperorality"
+ },
+ {
+ "code" : "HP:0001270",
+ "display" : "Motor delay"
+ },
+ {
+ "code" : "HP:0001548",
+ "display" : "Overgrowth"
+ },
+ {
+ "code" : "HP:0002311",
+ "display" : "Incoordination"
+ },
+ {
+ "code" : "HP:0006288",
+ "display" : "Advanced eruption of teeth"
+ },
+ {
+ "code" : "HP:0006323",
+ "display" : "Premature loss of primary teeth"
+ },
+ {
+ "code" : "HP:0009890",
+ "display" : "High anterior hairline"
+ },
+ {
+ "code" : "HP:0100034",
+ "display" : "Motor tics"
+ },
+ {
+ "code" : "HP:0100035",
+ "display" : "Phonic tics"
+ },
+ {
+ "code" : "HP:0000348",
+ "display" : "High forehead"
+ },
+ {
+ "code" : "HP:0001520",
+ "display" : "Large for gestational age"
+ },
+ {
+ "code" : "HP:0001239",
+ "display" : "Wrist flexion contracture"
+ },
+ {
+ "code" : "HP:0007359",
+ "display" : "Focal-onset seizure"
+ },
+ {
+ "code" : "HP:0000430",
+ "display" : "Underdeveloped nasal alae"
+ },
+ {
+ "code" : "HP:0007400",
+ "display" : "Irregular hyperpigmentation"
+ },
+ {
+ "code" : "HP:0100495",
+ "display" : "Mastocytosis"
+ },
+ {
+ "code" : "HP:0012378",
+ "display" : "Fatigue"
+ },
+ {
+ "code" : "HP:0002046",
+ "display" : "Heat intolerance"
+ },
+ {
+ "code" : "HP:0003270",
+ "display" : "Abdominal distention"
+ },
+ {
+ "code" : "HP:0002180",
+ "display" : "Neurodegeneration"
+ },
+ {
+ "code" : "HP:0003493",
+ "display" : "Antinuclear antibody positivity"
+ },
+ {
+ "code" : "HP:0030057",
+ "display" : "Autoimmune antibody positivity"
+ },
+ {
+ "code" : "HP:0006802",
+ "display" : "Abnormal anterior horn cell morphology"
+ },
+ {
+ "code" : "HP:0000064",
+ "display" : "Hypoplastic labia minora"
+ },
+ {
+ "code" : "HP:0000338",
+ "display" : "Hypomimic face"
+ },
+ {
+ "code" : "HP:0001642",
+ "display" : "Pulmonic stenosis"
+ },
+ {
+ "code" : "HP:0011344",
+ "display" : "Severe global developmental delay"
+ },
+ {
+ "code" : "HP:0200007",
+ "display" : "Abnormal size of the palpebral fissures"
+ },
+ {
+ "code" : "HP:0004464",
+ "display" : "Postauricular pit"
+ },
+ {
+ "code" : "HP:0000130",
+ "display" : "Abnormality of the uterus"
+ },
+ {
+ "code" : "HP:0000137",
+ "display" : "Abnormality of the ovary"
+ },
+ {
+ "code" : "HP:0000142",
+ "display" : "Abnormal vagina morphology"
+ },
+ {
+ "code" : "HP:0000370",
+ "display" : "Abnormality of the middle ear"
+ },
+ {
+ "code" : "HP:0011787",
+ "display" : "Central hypothyroidism"
+ },
+ {
+ "code" : "HP:0000274",
+ "display" : "Small face"
+ },
+ {
+ "code" : "HP:0000446",
+ "display" : "Narrow nasal bridge"
+ },
+ {
+ "code" : "HP:0000622",
+ "display" : "Blurred vision"
+ },
+ {
+ "code" : "HP:0001245",
+ "display" : "Small thenar eminence"
+ },
+ {
+ "code" : "HP:0009601",
+ "display" : "Aplasia/Hypoplasia of the thumb"
+ },
+ {
+ "code" : "HP:0011343",
+ "display" : "Moderate global developmental delay"
+ },
+ {
+ "code" : "HP:0000419",
+ "display" : "Abnormality of the nasal septum"
+ },
+ {
+ "code" : "HP:0000502",
+ "display" : "Abnormal conjunctiva morphology"
+ },
+ {
+ "code" : "HP:0000591",
+ "display" : "Abnormal sclera morphology"
+ },
+ {
+ "code" : "HP:0000615",
+ "display" : "Abnormal pupil morphology"
+ },
+ {
+ "code" : "HP:0001163",
+ "display" : "Abnormality of the metacarpal bones"
+ },
+ {
+ "code" : "HP:0001832",
+ "display" : "Abnormal metatarsal morphology"
+ },
+ {
+ "code" : "HP:0001850",
+ "display" : "Abnormality of the tarsal bones"
+ },
+ {
+ "code" : "HP:0010490",
+ "display" : "Abnormality of the palmar creases"
+ },
+ {
+ "code" : "HP:0010881",
+ "display" : "Abnormality of the umbilical cord"
+ },
+ {
+ "code" : "HP:0009113",
+ "display" : "Diaphragmatic weakness"
+ },
+ {
+ "code" : "HP:0011664",
+ "display" : "Left ventricular noncompaction cardiomyopathy"
+ },
+ {
+ "code" : "HP:0100240",
+ "display" : "Synostosis of joints"
+ },
+ {
+ "code" : "HP:0001838",
+ "display" : "Rocker bottom foot"
+ },
+ {
+ "code" : "HP:0003717",
+ "display" : "Minimal subcutaneous fat"
+ },
+ {
+ "code" : "HP:0001339",
+ "display" : "Lissencephaly"
+ },
+ {
+ "code" : "HP:0001591",
+ "display" : "Bell-shaped thorax"
+ },
+ {
+ "code" : "HP:0002655",
+ "display" : "Spondyloepiphyseal dysplasia"
+ },
+ {
+ "code" : "HP:0002983",
+ "display" : "Micromelia"
+ },
+ {
+ "code" : "HP:0003016",
+ "display" : "Metaphyseal widening"
+ },
+ {
+ "code" : "HP:0009826",
+ "display" : "Limb undergrowth"
+ },
+ {
+ "code" : "HP:0004488",
+ "display" : "Macrocephaly at birth"
+ },
+ {
+ "code" : "HP:0001695",
+ "display" : "Cardiac arrest"
+ },
+ {
+ "code" : "HP:0001712",
+ "display" : "Left ventricular hypertrophy"
+ },
+ {
+ "code" : "HP:0100775",
+ "display" : "Dural ectasia"
+ },
+ {
+ "code" : "HP:0000846",
+ "display" : "Adrenal insufficiency"
+ },
+ {
+ "code" : "HP:0002925",
+ "display" : "Increased thyroid-stimulating hormone level"
+ },
+ {
+ "code" : "HP:0100646",
+ "display" : "Thyroiditis"
+ },
+ {
+ "code" : "HP:0000836",
+ "display" : "Hyperthyroidism"
+ },
+ {
+ "code" : "HP:0004414",
+ "display" : "Abnormality of the pulmonary artery"
+ },
+ {
+ "code" : "HP:0000465",
+ "display" : "Webbed neck"
+ },
+ {
+ "code" : "HP:0000723",
+ "display" : "Restrictive behavior"
+ },
+ {
+ "code" : "HP:0002253",
+ "display" : "Colonic diverticula"
+ },
+ {
+ "code" : "HP:0001310",
+ "display" : "Dysmetria"
+ },
+ {
+ "code" : "HP:0000093",
+ "display" : "Proteinuria"
+ },
+ {
+ "code" : "HP:0002907",
+ "display" : "Microscopic hematuria"
+ },
+ {
+ "code" : "HP:0003073",
+ "display" : "Hypoalbuminemia"
+ },
+ {
+ "code" : "HP:0004315",
+ "display" : "Decreased circulating IgG level"
+ },
+ {
+ "code" : "HP:0000795",
+ "display" : "Abnormality of the urethra"
+ },
+ {
+ "code" : "HP:0001015",
+ "display" : "Prominent superficial veins"
+ },
+ {
+ "code" : "HP:0004691",
+ "display" : "2-3 toe syndactyly"
+ },
+ {
+ "code" : "HP:0005328",
+ "display" : "Progeroid facial appearance"
+ },
+ {
+ "code" : "HP:0005487",
+ "display" : "Prominent metopic ridge"
+ },
+ {
+ "code" : "HP:0007552",
+ "display" : "Abnormal subcutaneous fat tissue distribution"
+ },
+ {
+ "code" : "HP:0100678",
+ "display" : "Premature skin wrinkling"
+ },
+ {
+ "code" : "HP:0031137",
+ "display" : "Storage in hepatocytes"
+ },
+ {
+ "code" : "HP:0002521",
+ "display" : "Hypsarrhythmia"
+ },
+ {
+ "code" : "HP:0005390",
+ "display" : "Recurrent opportunistic infections"
+ },
+ {
+ "code" : "HP:0002716",
+ "display" : "Lymphadenopathy"
+ },
+ {
+ "code" : "HP:0005379",
+ "display" : "obsolete Severe T lymphocytopenia"
+ },
+ {
+ "code" : "HP:0004432",
+ "display" : "Agammaglobulinemia"
+ },
+ {
+ "code" : "HP:0006695",
+ "display" : "Atrioventricular canal defect"
+ },
+ {
+ "code" : "HP:0001733",
+ "display" : "Pancreatitis"
+ },
+ {
+ "code" : "HP:0002350",
+ "display" : "Cerebellar cyst"
+ },
+ {
+ "code" : "HP:0012110",
+ "display" : "Hypoplasia of the pons"
+ },
+ {
+ "code" : "HP:0001948",
+ "display" : "Alkalosis"
+ },
+ {
+ "code" : "HP:0003113",
+ "display" : "Hypochloremia"
+ },
+ {
+ "code" : "HP:0003155",
+ "display" : "Elevated alkaline phosphatase"
+ },
+ {
+ "code" : "HP:0003542",
+ "display" : "Increased serum pyruvate"
+ },
+ {
+ "code" : "HP:0000421",
+ "display" : "Epistaxis"
+ },
+ {
+ "code" : "HP:0200136",
+ "display" : "Oral-pharyngeal dysphagia"
+ },
+ {
+ "code" : "HP:0000805",
+ "display" : "Enuresis"
+ },
+ {
+ "code" : "HP:0005616",
+ "display" : "Accelerated skeletal maturation"
+ },
+ {
+ "code" : "HP:0002459",
+ "display" : "obsolete Dysautonomia"
+ },
+ {
+ "code" : "HP:0007302",
+ "display" : "Bipolar affective disorder"
+ },
+ {
+ "code" : "HP:0100602",
+ "display" : "Preeclampsia"
+ },
+ {
+ "code" : "HP:0100508",
+ "display" : "Abnormality of vitamin metabolism"
+ },
+ {
+ "code" : "HP:0001140",
+ "display" : "Limbal dermoid"
+ },
+ {
+ "code" : "HP:0000143",
+ "display" : "Rectovaginal fistula"
+ },
+ {
+ "code" : "HP:0001746",
+ "display" : "Asplenia"
+ },
+ {
+ "code" : "HP:0012715",
+ "display" : "Profound hearing impairment"
+ },
+ {
+ "code" : "HP:0001748",
+ "display" : "Polysplenia"
+ },
+ {
+ "code" : "HP:0003072",
+ "display" : "Hypercalcemia"
+ },
+ {
+ "code" : "HP:0002905",
+ "display" : "Hyperphosphatemia"
+ },
+ {
+ "code" : "HP:0002901",
+ "display" : "Hypocalcemia"
+ },
+ {
+ "code" : "HP:0001367",
+ "display" : "Abnormal joint morphology"
+ },
+ {
+ "code" : "HP:0010562",
+ "display" : "Keloids"
+ },
+ {
+ "code" : "HP:0004430",
+ "display" : "Severe combined immunodeficiency"
+ },
+ {
+ "code" : "HP:0000003",
+ "display" : "Multicystic kidney dysplasia"
+ },
+ {
+ "code" : "HP:0010980",
+ "display" : "Hyperlipoproteinemia"
+ },
+ {
+ "code" : "HP:0002155",
+ "display" : "Hypertriglyceridemia"
+ },
+ {
+ "code" : "HP:0000520",
+ "display" : "Proptosis"
+ },
+ {
+ "code" : "HP:0000180",
+ "display" : "Lobulated tongue"
+ },
+ {
+ "code" : "HP:0005486",
+ "display" : "Small fontanelle"
+ },
+ {
+ "code" : "HP:0000891",
+ "display" : "Cervical ribs"
+ },
+ {
+ "code" : "HP:0002557",
+ "display" : "Hypoplastic nipples"
+ },
+ {
+ "code" : "HP:0009112",
+ "display" : "Aplasia of the left hemidiaphragm"
+ },
+ {
+ "code" : "HP:0001719",
+ "display" : "Double outlet right ventricle"
+ },
+ {
+ "code" : "HP:0001682",
+ "display" : "Subvalvular aortic stenosis"
+ },
+ {
+ "code" : "HP:0001667",
+ "display" : "Right ventricular hypertrophy"
+ },
+ {
+ "code" : "HP:0002101",
+ "display" : "Abnormal lung lobation"
+ },
+ {
+ "code" : "HP:0002202",
+ "display" : "Pleural effusion"
+ },
+ {
+ "code" : "HP:0002566",
+ "display" : "Intestinal malrotation"
+ },
+ {
+ "code" : "HP:0004510",
+ "display" : "Pancreatic islet-cell hyperplasia"
+ },
+ {
+ "code" : "HP:0001747",
+ "display" : "Accessory spleen"
+ },
+ {
+ "code" : "HP:0002181",
+ "display" : "Cerebral edema"
+ },
+ {
+ "code" : "HP:0000967",
+ "display" : "Petechiae"
+ },
+ {
+ "code" : "HP:0009702",
+ "display" : "Carpal synostosis"
+ },
+ {
+ "code" : "HP:0000927",
+ "display" : "Abnormality of skeletal maturation"
+ },
+ {
+ "code" : "HP:0004348",
+ "display" : "Abnormality of bone mineral density"
+ },
+ {
+ "code" : "HP:0003019",
+ "display" : "Abnormality of the wrist"
+ },
+ {
+ "code" : "HP:0003063",
+ "display" : "Abnormality of the humerus"
+ },
+ {
+ "code" : "HP:0001059",
+ "display" : "Pterygium"
+ },
+ {
+ "code" : "HP:0001528",
+ "display" : "Hemihypertrophy"
+ },
+ {
+ "code" : "HP:0011228",
+ "display" : "Horizontal eyebrow"
+ },
+ {
+ "code" : "HP:0000766",
+ "display" : "Abnormality of the sternum"
+ },
+ {
+ "code" : "HP:0001254",
+ "display" : "Lethargy"
+ },
+ {
+ "code" : "HP:0002360",
+ "display" : "Sleep disturbance"
+ },
+ {
+ "code" : "HP:0001063",
+ "display" : "Acrocyanosis"
+ },
+ {
+ "code" : "HP:0001769",
+ "display" : "Broad foot"
+ },
+ {
+ "code" : "HP:0010280",
+ "display" : "Stomatitis"
+ },
+ {
+ "code" : "HP:0001288",
+ "display" : "Gait disturbance"
+ },
+ {
+ "code" : "HP:0008330",
+ "display" : "Reduced von Willebrand factor activity"
+ },
+ {
+ "code" : "HP:0001954",
+ "display" : "Recurrent fever"
+ },
+ {
+ "code" : "HP:0004311",
+ "display" : "Abnormal macrophage morphology"
+ },
+ {
+ "code" : "HP:0012539",
+ "display" : "Non-Hodgkin lymphoma"
+ },
+ {
+ "code" : "HP:0002074",
+ "display" : "Increased neuronal autofluorescent lipopigment"
+ },
+ {
+ "code" : "HP:0002973",
+ "display" : "Abnormality of the forearm"
+ },
+ {
+ "code" : "HP:0003203",
+ "display" : "Impaired oxidative burst"
+ },
+ {
+ "code" : "HP:0003027",
+ "display" : "Mesomelia"
+ },
+ {
+ "code" : "HP:0002754",
+ "display" : "Osteomyelitis"
+ },
+ {
+ "code" : "HP:0004431",
+ "display" : "Complement deficiency"
+ },
+ {
+ "code" : "HP:0001258",
+ "display" : "Spastic paraplegia"
+ },
+ {
+ "code" : "HP:0012811",
+ "display" : "Wide nasal ridge"
+ },
+ {
+ "code" : "HP:0011832",
+ "display" : "Narrow nasal tip"
+ },
+ {
+ "code" : "HP:0000288",
+ "display" : "Abnormality of the philtrum"
+ },
+ {
+ "code" : "HP:0002357",
+ "display" : "Dysphasia"
+ },
+ {
+ "code" : "HP:0000871",
+ "display" : "Panhypopituitarism"
+ },
+ {
+ "code" : "HP:0000233",
+ "display" : "Thin vermilion border"
+ },
+ {
+ "code" : "HP:0003281",
+ "display" : "Increased serum ferritin"
+ },
+ {
+ "code" : "HP:0010752",
+ "display" : "Cleft mandible"
+ },
+ {
+ "code" : "HP:0000437",
+ "display" : "Depressed nasal tip"
+ },
+ {
+ "code" : "HP:0000453",
+ "display" : "Choanal atresia"
+ },
+ {
+ "code" : "HP:0000863",
+ "display" : "Central diabetes insipidus"
+ },
+ {
+ "code" : "HP:0000058",
+ "display" : "Abnormality of the labia"
+ },
+ {
+ "code" : "HP:0007418",
+ "display" : "Alopecia totalis"
+ },
+ {
+ "code" : "HP:0100765",
+ "display" : "Abnormality of the tonsils"
+ },
+ {
+ "code" : "HP:0100747",
+ "display" : "Macrodactyly of toe"
+ },
+ {
+ "code" : "HP:0002109",
+ "display" : "obsolete Abnormality of the bronchi"
+ },
+ {
+ "code" : "HP:0011950",
+ "display" : "Bronchiolitis"
+ },
+ {
+ "code" : "HP:0002850",
+ "display" : "Decreased circulating total IgM"
+ },
+ {
+ "code" : "HP:0001395",
+ "display" : "Hepatic fibrosis"
+ },
+ {
+ "code" : "HP:0010701",
+ "display" : "Abnormal immunoglobulin level"
+ },
+ {
+ "code" : "HP:0009928",
+ "display" : "Thick nasal alae"
+ },
+ {
+ "code" : "HP:0010807",
+ "display" : "Open bite"
+ },
+ {
+ "code" : "HP:0002126",
+ "display" : "Polymicrogyria"
+ },
+ {
+ "code" : "HP:0002900",
+ "display" : "Hypokalemia"
+ },
+ {
+ "code" : "HP:0000155",
+ "display" : "Oral ulcer"
+ },
+ {
+ "code" : "HP:0000135",
+ "display" : "Hypogonadism"
+ },
+ {
+ "code" : "HP:0100783",
+ "display" : "Breast aplasia"
+ },
+ {
+ "code" : "HP:0000336",
+ "display" : "Prominent supraorbital ridges"
+ },
+ {
+ "code" : "HP:0010557",
+ "display" : "Overlapping fingers"
+ },
+ {
+ "code" : "HP:0005100",
+ "display" : "Premature birth following premature rupture of fetal membranes"
+ },
+ {
+ "code" : "HP:0002594",
+ "display" : "Pancreatic hypoplasia"
+ },
+ {
+ "code" : "HP:0010109",
+ "display" : "Short hallux"
+ },
+ {
+ "code" : "HP:0002334",
+ "display" : "Abnormality of the cerebellar vermis"
+ },
+ {
+ "code" : "HP:0003326",
+ "display" : "Myalgia"
+ },
+ {
+ "code" : "HP:0001645",
+ "display" : "Sudden cardiac death"
+ },
+ {
+ "code" : "HP:0001612",
+ "display" : "Weak cry"
+ },
+ {
+ "code" : "HP:0001618",
+ "display" : "Dysphonia"
+ },
+ {
+ "code" : "HP:0001336",
+ "display" : "Myoclonus"
+ },
+ {
+ "code" : "HP:0001283",
+ "display" : "Bulbar palsy"
+ },
+ {
+ "code" : "HP:0002080",
+ "display" : "Intention tremor"
+ },
+ {
+ "code" : "HP:0002174",
+ "display" : "Postural tremor"
+ },
+ {
+ "code" : "HP:0002064",
+ "display" : "Spastic gait"
+ },
+ {
+ "code" : "HP:0009800",
+ "display" : "Maternal diabetes"
+ },
+ {
+ "code" : "HP:0001662",
+ "display" : "Bradycardia"
+ },
+ {
+ "code" : "HP:0006595",
+ "display" : "Scapulohumeral synostosis"
+ },
+ {
+ "code" : "HP:0005815",
+ "display" : "Supernumerary ribs"
+ },
+ {
+ "code" : "HP:0000307",
+ "display" : "Pointed chin"
+ },
+ {
+ "code" : "HP:0012371",
+ "display" : "Hyperplasia of midface"
+ },
+ {
+ "code" : "HP:0002643",
+ "display" : "Neonatal respiratory distress"
+ },
+ {
+ "code" : "HP:0002093",
+ "display" : "Respiratory insufficiency"
+ },
+ {
+ "code" : "HP:0010310",
+ "display" : "Chylothorax"
+ },
+ {
+ "code" : "HP:0006376",
+ "display" : "Limited elbow flexion"
+ },
+ {
+ "code" : "HP:0006467",
+ "display" : "Limited shoulder movement"
+ },
+ {
+ "code" : "HP:0010505",
+ "display" : "Limitation of movement at ankles"
+ },
+ {
+ "code" : "HP:0010501",
+ "display" : "Limitation of knee mobility"
+ },
+ {
+ "code" : "HP:0009896",
+ "display" : "Abnormality of the antitragus"
+ },
+ {
+ "code" : "HP:0004404",
+ "display" : "Abnormal nipple morphology"
+ },
+ {
+ "code" : "HP:0011957",
+ "display" : "Abnormal pectoral muscle morphology"
+ },
+ {
+ "code" : "HP:0000777",
+ "display" : "Abnormality of the thymus"
+ },
+ {
+ "code" : "HP:0000418",
+ "display" : "Narrow nasal ridge"
+ },
+ {
+ "code" : "HP:0001572",
+ "display" : "Macrodontia"
+ },
+ {
+ "code" : "HP:0002967",
+ "display" : "Cubitus valgus"
+ },
+ {
+ "code" : "HP:0000988",
+ "display" : "Skin rash"
+ },
+ {
+ "code" : "HP:0009733",
+ "display" : "Glioma"
+ },
+ {
+ "code" : "HP:0012452",
+ "display" : "Restless legs"
+ },
+ {
+ "code" : "HP:0100031",
+ "display" : "Neoplasm of the thyroid gland"
+ },
+ {
+ "code" : "HP:0030127",
+ "display" : "Endometriosis"
+ },
+ {
+ "code" : "HP:0000123",
+ "display" : "Nephritis"
+ },
+ {
+ "code" : "HP:0001974",
+ "display" : "Leukocytosis"
+ },
+ {
+ "code" : "HP:0010976",
+ "display" : "B lymphocytopenia"
+ },
+ {
+ "code" : "HP:0000010",
+ "display" : "Recurrent urinary tract infections"
+ },
+ {
+ "code" : "HP:0100807",
+ "display" : "Long fingers"
+ },
+ {
+ "code" : "HP:0000653",
+ "display" : "Sparse eyelashes"
+ },
+ {
+ "code" : "HP:0000171",
+ "display" : "Microglossia"
+ },
+ {
+ "code" : "HP:0002575",
+ "display" : "Tracheoesophageal fistula"
+ },
+ {
+ "code" : "HP:0009933",
+ "display" : "Narrow naris"
+ },
+ {
+ "code" : "HP:0000883",
+ "display" : "Thin ribs"
+ },
+ {
+ "code" : "HP:0000121",
+ "display" : "Nephrocalcinosis"
+ },
+ {
+ "code" : "HP:0001349",
+ "display" : "Facial diplegia"
+ },
+ {
+ "code" : "HP:0012037",
+ "display" : "Pectoralis amyotrophy"
+ },
+ {
+ "code" : "HP:0100560",
+ "display" : "Upper limb asymmetry"
+ },
+ {
+ "code" : "HP:0005684",
+ "display" : "Distal arthrogryposis"
+ },
+ {
+ "code" : "HP:0010722",
+ "display" : "Asymmetry of the ears"
+ },
+ {
+ "code" : "HP:0009380",
+ "display" : "Aplasia of the fingers"
+ },
+ {
+ "code" : "HP:0001657",
+ "display" : "Prolonged QT interval"
+ },
+ {
+ "code" : "HP:0002040",
+ "display" : "Esophageal varix"
+ },
+ {
+ "code" : "HP:0000613",
+ "display" : "Photophobia"
+ },
+ {
+ "code" : "HP:0000561",
+ "display" : "Absent eyelashes"
+ },
+ {
+ "code" : "HP:0002223",
+ "display" : "Absent eyebrow"
+ },
+ {
+ "code" : "HP:0002591",
+ "display" : "Polyphagia"
+ },
+ {
+ "code" : "HP:0002373",
+ "display" : "Febrile seizure (within the age range of 3 months to 6 years)"
+ },
+ {
+ "code" : "HP:0002419",
+ "display" : "Molar tooth sign on MRI"
+ },
+ {
+ "code" : "HP:0001010",
+ "display" : "Hypopigmentation of the skin"
+ },
+ {
+ "code" : "HP:0005772",
+ "display" : "Aplasia/Hypoplasia of the tibia"
+ },
+ {
+ "code" : "HP:0002211",
+ "display" : "White forelock"
+ },
+ {
+ "code" : "HP:0007126",
+ "display" : "Proximal amyotrophy"
+ },
+ {
+ "code" : "HP:0003798",
+ "display" : "Nemaline bodies"
+ },
+ {
+ "code" : "HP:0006533",
+ "display" : "Bronchodysplasia"
+ },
+ {
+ "code" : "HP:0003391",
+ "display" : "Gowers sign"
+ },
+ {
+ "code" : "HP:0000771",
+ "display" : "Gynecomastia"
+ },
+ {
+ "code" : "HP:0100785",
+ "display" : "Insomnia"
+ },
+ {
+ "code" : "HP:0010529",
+ "display" : "Echolalia"
+ },
+ {
+ "code" : "HP:0000363",
+ "display" : "Abnormality of earlobe"
+ },
+ {
+ "code" : "HP:0002612",
+ "display" : "Congenital hepatic fibrosis"
+ },
+ {
+ "code" : "HP:0006721",
+ "display" : "Acute lymphoblastic leukemia"
+ },
+ {
+ "code" : "HP:0001958",
+ "display" : "Nonketotic hypoglycemia"
+ },
+ {
+ "code" : "HP:0003457",
+ "display" : "EMG abnormality"
+ },
+ {
+ "code" : "HP:0010636",
+ "display" : "Schizencephaly"
+ },
+ {
+ "code" : "HP:0005266",
+ "display" : "Intestinal polyp"
+ },
+ {
+ "code" : "HP:0200063",
+ "display" : "Colorectal polyposis"
+ },
+ {
+ "code" : "HP:0001762",
+ "display" : "Talipes equinovarus"
+ },
+ {
+ "code" : "HP:0000056",
+ "display" : "Abnormality of the clitoris"
+ },
+ {
+ "code" : "HP:0008655",
+ "display" : "Aplasia/Hypoplasia of the fallopian tube"
+ },
+ {
+ "code" : "HP:0002072",
+ "display" : "Chorea"
+ },
+ {
+ "code" : "HP:0008734",
+ "display" : "Decreased testicular size"
+ },
+ {
+ "code" : "HP:0002136",
+ "display" : "Broad-based gait"
+ },
+ {
+ "code" : "HP:0010958",
+ "display" : "Bilateral renal agenesis"
+ },
+ {
+ "code" : "HP:0002510",
+ "display" : "Spastic tetraplegia"
+ },
+ {
+ "code" : "HP:0003234",
+ "display" : "Decreased plasma carnitine"
+ },
+ {
+ "code" : "HP:0000720",
+ "display" : "Mood swings"
+ },
+ {
+ "code" : "HP:0012638",
+ "display" : "Abnormal nervous system physiology"
+ },
+ {
+ "code" : "HP:0002803",
+ "display" : "Congenital contracture"
+ },
+ {
+ "code" : "HP:0000152",
+ "display" : "Abnormality of head or neck"
+ },
+ {
+ "code" : "HP:0004377",
+ "display" : "Hematological neoplasm"
+ },
+ {
+ "code" : "HP:0100006",
+ "display" : "Neoplasm of the central nervous system"
+ },
+ {
+ "code" : "HP:0012759",
+ "display" : "Neurodevelopmental abnormality"
+ },
+ {
+ "code" : "HP:0011805",
+ "display" : "Abnormal skeletal muscle morphology"
+ },
+ {
+ "code" : "HP:0003634",
+ "display" : "Amyoplasia"
+ },
+ {
+ "code" : "HP:0001507",
+ "display" : "Growth abnormality"
+ },
+ {
+ "code" : "HP:0001939",
+ "display" : "Abnormality of metabolism/homeostasis"
+ },
+ {
+ "code" : "HP:0011013",
+ "display" : "Abnormal circulating carbohydrate concentration"
+ },
+ {
+ "code" : "HP:0410008",
+ "display" : "Abnormality of the peripheral nervous system"
+ },
+ {
+ "code" : "HP:0200134",
+ "display" : "Epileptic encephalopathy"
+ },
+ {
+ "code" : "HP:0001881",
+ "display" : "Abnormal leukocyte morphology"
+ },
+ {
+ "code" : "HP:0005549",
+ "display" : "obsolete Congenital neutropenia"
+ },
+ {
+ "code" : "HP:0004439",
+ "display" : "Craniofacial dysostosis"
+ },
+ {
+ "code" : "HP:0012443",
+ "display" : "Abnormality of brain morphology"
+ },
+ {
+ "code" : "HP:0000202",
+ "display" : "Oral cleft"
+ },
+ {
+ "code" : "HP:0011842",
+ "display" : "Abnormality of skeletal morphology"
+ },
+ {
+ "code" : "HP:0003808",
+ "display" : "Abnormal muscle tone"
+ },
+ {
+ "code" : "HP:0001574",
+ "display" : "Abnormality of the integument"
+ },
+ {
+ "code" : "HP:0030056",
+ "display" : "Uncombable hair"
+ },
+ {
+ "code" : "HP:0003549",
+ "display" : "Abnormality of connective tissue"
+ },
+ {
+ "code" : "HP:0030875",
+ "display" : "Abnormality of pulmonary circulation"
+ },
+ {
+ "code" : "HP:0000118",
+ "display" : "Phenotypic abnormality"
+ },
+ {
+ "code" : "HP:0012469",
+ "display" : "Infantile spasms"
+ },
+ {
+ "code" : "HP:0032894",
+ "display" : "Seizure precipitated by febrile infection"
+ },
+ {
+ "code" : "HP:0100661",
+ "display" : "Trigeminal neuralgia"
+ },
+ {
+ "code" : "HP:0012207",
+ "display" : "Reduced sperm motility"
+ },
+ {
+ "code" : "HP:0000798",
+ "display" : "Oligospermia"
+ },
+ {
+ "code" : "HP:0012864",
+ "display" : "Abnormal sperm morphology"
+ },
+ {
+ "code" : "HP:0008232",
+ "display" : "Elevated circulating follicle stimulating hormone level"
+ },
+ {
+ "code" : "HP:0040306",
+ "display" : "Decreased male libido"
+ },
+ {
+ "code" : "HP:0012208",
+ "display" : "Immotile sperm"
+ },
+ {
+ "code" : "HP:0000027",
+ "display" : "Azoospermia"
+ },
+ {
+ "code" : "HP:0000870",
+ "display" : "Increased circulating prolactin concentration"
+ },
+ {
+ "code" : "HP:0008187",
+ "display" : "Absence of secondary sex characteristics"
+ },
+ {
+ "code" : "HP:0010469",
+ "display" : "Absent testis"
+ },
+ {
+ "code" : "HP:0011969",
+ "display" : "Elevated circulating luteinizing hormone level"
+ },
+ {
+ "code" : "HP:0040171",
+ "display" : "Decreased serum testosterone level"
+ },
+ {
+ "code" : "HP:0003251",
+ "display" : "Male infertility"
+ },
+ {
+ "code" : "HP:0009804",
+ "display" : "Reduced number of teeth"
+ },
+ {
+ "code" : "HP:0000548",
+ "display" : "Cone/cone-rod dystrophy"
+ },
+ {
+ "code" : "HP:0000546",
+ "display" : "Retinal degeneration"
+ },
+ {
+ "code" : "HP:0008002",
+ "display" : "Abnormality of macular pigmentation"
+ },
+ {
+ "code" : "HP:0000608",
+ "display" : "Macular degeneration"
+ },
+ {
+ "code" : "HP:0030611",
+ "display" : "Retinal pigment epithelial loss on macular OCT"
+ },
+ {
+ "code" : "HP:0001135",
+ "display" : "Chorioretinal dystrophy"
+ },
+ {
+ "code" : "HP:0030468",
+ "display" : "Abnormal multifocal electroretinogram"
+ },
+ {
+ "code" : "HP:00030532",
+ "display" : "Visual acuity test abnormality"
+ },
+ {
+ "code" : "HP:0007401",
+ "display" : "Macular atrophy"
+ },
+ {
+ "code" : "HP:0030466",
+ "display" : "Abnormal full-field electroretinogram"
+ },
+ {
+ "code" : "HP:007737",
+ "display" : "Bone spicule pigmentation of the retina"
+ },
+ {
+ "code" : "HP:0011342",
+ "display" : "Mild global developmental delay"
+ },
+ {
+ "code" : "HP:0030610",
+ "display" : "Photoreceptor outer segment loss on macular OCT"
+ },
+ {
+ "code" : "HP:0007722",
+ "display" : "Retinal pigment epithelial atrophy"
+ },
+ {
+ "code" : "HP:0030493",
+ "display" : "Abnormality of foveal pigmentation"
+ },
+ {
+ "code" : "HP:0007843",
+ "display" : "Attenuation of retinal blood vessels"
+ },
+ {
+ "code" : "HP:0007754",
+ "display" : "Macular dystrophy"
+ },
+ {
+ "code" : "HP:0011509",
+ "display" : "Macular hyperpigmentation"
+ },
+ {
+ "code" : "HP:0008527",
+ "display" : "Congenital sensorineural hearing impairment"
+ },
+ {
+ "code" : "HP:0200070",
+ "display" : "Peripheral retinal atrophy"
+ },
+ {
+ "code" : "HP:0007793",
+ "display" : "Granular macular appearance"
+ },
+ {
+ "code" : "HP:0007987",
+ "display" : "Progressive visual field defects"
+ },
+ {
+ "code" : "HP:0100817",
+ "display" : "Renovascular hypertension"
+ },
+ {
+ "code" : "HP:0007868",
+ "display" : "obsolete Age-related macular degeneration"
+ },
+ {
+ "code" : "HP:0030527",
+ "display" : "Very severe constriction of peripheral visual field"
+ },
+ {
+ "code" : "HP:0030551",
+ "display" : "Visual acuity light perception with projection"
+ },
+ {
+ "code" : "HP:0011505",
+ "display" : "Cystoid macular edema"
+ },
+ {
+ "code" : "HP:0010442",
+ "display" : "Polydactyly"
+ },
+ {
+ "code" : "HP:0007642",
+ "display" : "Congenital stationary night blindness"
+ },
+ {
+ "code" : "HP:0009073",
+ "display" : "Progressive proximal muscle weakness"
+ },
+ {
+ "code" : "HP:0003741",
+ "display" : "Congenital muscular dystrophy"
+ },
+ {
+ "code" : "HP:0100299",
+ "display" : "Muscle fiber inclusion bodies"
+ },
+ {
+ "code" : "HP:0003540",
+ "display" : "Impaired platelet aggregation"
+ },
+ {
+ "code" : "HP:0010489",
+ "display" : "Absent palmar crease"
+ },
+ {
+ "code" : "HP:0009824",
+ "display" : "Upper limb undergrowth"
+ },
+ {
+ "code" : "HP:0002395",
+ "display" : "Lower limb hyperreflexia"
+ },
+ {
+ "code" : "HP:0001138",
+ "display" : "Optic neuropathy"
+ },
+ {
+ "code" : "HP:0007103",
+ "display" : "Hypointensity of cerebral white matter on MRI"
+ },
+ {
+ "code" : "HP:0003458",
+ "display" : "EMG: myopathic abnormalities"
+ },
+ {
+ "code" : "HP:0002987",
+ "display" : "Elbow flexion contracture"
+ },
+ {
+ "code" : "HP:0006466",
+ "display" : "Ankle flexion contracture"
+ },
+ {
+ "code" : "HP:0008458",
+ "display" : "Progressive congenital scoliosis"
+ },
+ {
+ "code" : "HP:0000473",
+ "display" : "Torticollis"
+ },
+ {
+ "code" : "HP:0011800",
+ "display" : "Midface retrusion"
+ },
+ {
+ "code" : "HP:0000597",
+ "display" : "Ophthalmoparesis"
+ },
+ {
+ "code" : "HP:0005853",
+ "display" : "Congenital foot contraction deformities"
+ },
+ {
+ "code" : "HP:0007002",
+ "display" : "Motor axonal neuropathy"
+ },
+ {
+ "code" : "HP:0003327",
+ "display" : "Axial muscle weakness"
+ },
+ {
+ "code" : "HP:0003306",
+ "display" : "Spinal rigidity"
+ },
+ {
+ "code" : "HP:0002068",
+ "display" : "Neuromuscular dysphagia"
+ },
+ {
+ "code" : "HP:0001002",
+ "display" : "obsolete Decreased subcutaneous fat"
+ },
+ {
+ "code" : "HP:0002880",
+ "display" : "obsolete Respiratory difficulties"
+ },
+ {
+ "code" : "HP:0006829",
+ "display" : "Severe muscular hypotonia"
+ },
+ {
+ "code" : "HP:0011448",
+ "display" : "Ankle clonus"
+ },
+ {
+ "code" : "HP:0003487",
+ "display" : "Babinski sign"
+ },
+ {
+ "code" : "HP:0002378",
+ "display" : "Hand tremor"
+ },
+ {
+ "code" : "HP:0002747",
+ "display" : "Respiratory insufficiency due to muscle weakness"
+ },
+ {
+ "code" : "HP:0002579",
+ "display" : "Gastrointestinal dysmotility"
+ },
+ {
+ "code" : "HP:0001041",
+ "display" : "Facial erythema"
+ },
+ {
+ "code" : "HP:0040180",
+ "display" : "Hyperkeratosis pilaris"
+ },
+ {
+ "code" : "HP:0001382",
+ "display" : "Joint hypermobility"
+ },
+ {
+ "code" : "HP:0003722",
+ "display" : "Neck flexor weakness"
+ },
+ {
+ "code" : "HP:0003323",
+ "display" : "Progressive muscle weakness"
+ },
+ {
+ "code" : "HP:0002380",
+ "display" : "Fasciculations"
+ },
+ {
+ "code" : "HP:0012785",
+ "display" : "Flexion contracture of finger"
+ },
+ {
+ "code" : "HP:0007936",
+ "display" : "Restrictive external ophthalmoplegia"
+ },
+ {
+ "code" : "HP:0030319",
+ "display" : "Weakness of facial musculature"
+ },
+ {
+ "code" : "HP:0008936",
+ "display" : "Muscular hypotonia of the trunk"
+ },
+ {
+ "code" : "HP:0030230",
+ "display" : "Central core regions in muscle fibers"
+ },
+ {
+ "code" : "HP:0011471",
+ "display" : "Gastrostomy tube feeding in infancy"
+ },
+ {
+ "code" : "HP:0001290",
+ "display" : "Generalized hypotonia"
+ },
+ {
+ "code" : "HP:0002421",
+ "display" : "Poor head control"
+ },
+ {
+ "code" : "HP:0010301",
+ "display" : "Spinal dysraphism"
+ },
+ {
+ "code" : "HP:0004303",
+ "display" : "Abnormal muscle fiber morphology"
+ },
+ {
+ "code" : "HP:0009046",
+ "display" : "Difficulty running"
+ },
+ {
+ "code" : "HP:0003715",
+ "display" : "Myofibrillar myopathy"
+ },
+ {
+ "code" : "HP:0000467",
+ "display" : "Neck muscle weakness"
+ },
+ {
+ "code" : "HP:0001999",
+ "display" : "Abnormal facial shape"
+ },
+ {
+ "code" : "HP:0002751",
+ "display" : "Kyphoscoliosis"
+ },
+ {
+ "code" : "HP:0030223",
+ "display" : "Perseveration"
+ },
+ {
+ "code" : "HP:0002344",
+ "display" : "Progressive neurologic deterioration"
+ },
+ {
+ "code" : "HP:0002522",
+ "display" : "Areflexia of lower limbs"
+ },
+ {
+ "code" : "HP:0003805",
+ "display" : "Rimmed vacuoles"
+ },
+ {
+ "code" : "HP:0005781",
+ "display" : "Contractures of the large joints"
+ },
+ {
+ "code" : "HP:0040083",
+ "display" : "Toe walking"
+ },
+ {
+ "code" : "HP:0003749",
+ "display" : "Pelvic girdle muscle weakness"
+ },
+ {
+ "code" : "HP:0012444",
+ "display" : "Brain atrophy"
+ },
+ {
+ "code" : "HP:0003738",
+ "display" : "Exercise-induced myalgia"
+ },
+ {
+ "code" : "HP:0003756",
+ "display" : "Skeletal myopathy"
+ },
+ {
+ "code" : "HP:0002492",
+ "display" : "Morphological abnormality of the corticospinal tract"
+ },
+ {
+ "code" : "HP:0100302",
+ "display" : "Muscle fiber tubuloreticular inclusions"
+ },
+ {
+ "code" : "HP:0006817",
+ "display" : "Aplasia/Hypoplasia of the cerebellar vermis"
+ },
+ {
+ "code" : "HP:0003473",
+ "display" : "Fatigable weakness"
+ },
+ {
+ "code" : "HP:0002077",
+ "display" : "Migraine with aura"
+ },
+ {
+ "code" : "HP:0100559",
+ "display" : "Lower limb asymmetry"
+ },
+ {
+ "code" : "HP:0002079",
+ "display" : "Hypoplasia of the corpus callosum"
+ },
+ {
+ "code" : "HP:0002804",
+ "display" : "Arthrogryposis multiplex congenita"
+ },
+ {
+ "code" : "HP:0011623",
+ "display" : "Muscular ventricular septal defect"
+ },
+ {
+ "code" : "HP:0002191",
+ "display" : "Progressive spasticity"
+ },
+ {
+ "code" : "HP:0003390",
+ "display" : "Sensory axonal neuropathy"
+ },
+ {
+ "code" : "HP:0006986",
+ "display" : "Upper limb spasticity"
+ },
+ {
+ "code" : "HP:0002464",
+ "display" : "Spastic dysarthria"
+ },
+ {
+ "code" : "HP:0001308",
+ "display" : "Tongue fasciculations"
+ },
+ {
+ "code" : "HP:0007010",
+ "display" : "Poor fine motor coordination"
+ },
+ {
+ "code" : "HP:0003737",
+ "display" : "Mitochondrial myopathy"
+ },
+ {
+ "code" : "HP:0008012",
+ "display" : "obsolete Congenital myopia"
+ },
+ {
+ "code" : "HP:0008872",
+ "display" : "Feeding difficulties in infancy"
+ },
+ {
+ "code" : "HP:0005750",
+ "display" : "Contractures of the joints of the lower limbs"
+ },
+ {
+ "code" : "HP:0009067",
+ "display" : "Progressive spinal muscular atrophy"
+ },
+ {
+ "code" : "HP:0001623",
+ "display" : "Breech presentation"
+ },
+ {
+ "code" : "HP:0001374",
+ "display" : "Congenital hip dislocation"
+ },
+ {
+ "code" : "HP:0002359",
+ "display" : "Frequent falls"
+ },
+ {
+ "code" : "HP:0003803",
+ "display" : "Type 1 muscle fiber predominance"
+ },
+ {
+ "code" : "HP:0011410",
+ "display" : "Caesarian section"
+ },
+ {
+ "code" : "HP:0008947",
+ "display" : "Infantile muscular hypotonia"
+ },
+ {
+ "code" : "HP:0100501",
+ "display" : "Recurrent bronchiolitis"
+ },
+ {
+ "code" : "HP:0003789",
+ "display" : "Minicore myopathy"
+ },
+ {
+ "code" : "HP:0000544",
+ "display" : "External ophthalmoplegia"
+ },
+ {
+ "code" : "HP:0001605",
+ "display" : "Vocal cord paralysis"
+ },
+ {
+ "code" : "HP:0003712",
+ "display" : "Skeletal muscle hypertrophy"
+ },
+ {
+ "code" : "HP:0012507",
+ "display" : "Weakness of orbicularis oculi muscle"
+ },
+ {
+ "code" : "HP:0009816",
+ "display" : "Lower limb undergrowth"
+ },
+ {
+ "code" : "HP:0008935",
+ "display" : "Generalized neonatal hypotonia"
+ },
+ {
+ "code" : "HP:0003484",
+ "display" : "Upper limb muscle weakness"
+ },
+ {
+ "code" : "HP:0008331",
+ "display" : "Elevated creatine kinase after exercise"
+ },
+ {
+ "code" : "HP:0001315",
+ "display" : "Reduced tendon reflexes"
+ },
+ {
+ "code" : "HP:0012473",
+ "display" : "Tongue atrophy"
+ },
+ {
+ "code" : "HP:0003273",
+ "display" : "Hip contracture"
+ },
+ {
+ "code" : "HP:0006380",
+ "display" : "Knee flexion contracture"
+ },
+ {
+ "code" : "HP:0003752",
+ "display" : "Episodic flaccid weakness"
+ },
+ {
+ "code" : "HP:0100298",
+ "display" : "Motheaten muscle fibers"
+ },
+ {
+ "code" : "HP:0003693",
+ "display" : "Distal amyotrophy"
+ },
+ {
+ "code" : "HP:0002167",
+ "display" : "Neurological speech impairment"
+ },
+ {
+ "code" : "HP:0003388",
+ "display" : "Easy fatigability"
+ },
+ {
+ "code" : "HP:0001348",
+ "display" : "Brisk reflexes"
+ },
+ {
+ "code" : "HP:0003445",
+ "display" : "EMG: neuropathic changes"
+ },
+ {
+ "code" : "HP:0009063",
+ "display" : "Progressive distal muscle weakness"
+ },
+ {
+ "code" : "HP:0003720",
+ "display" : "Generalized muscle hypertrophy"
+ },
+ {
+ "code" : "HP:0002493",
+ "display" : "Upper motor neuron dysfunction"
+ },
+ {
+ "code" : "HP:0012448",
+ "display" : "Delayed myelination"
+ },
+ {
+ "code" : "HP:0001338",
+ "display" : "Partial agenesis of the corpus callosum"
+ },
+ {
+ "code" : "HP:0006879",
+ "display" : "Pontocerebellar atrophy"
+ },
+ {
+ "code" : "HP:0200101",
+ "display" : "Decreased/absent ankle reflexes"
+ },
+ {
+ "code" : "HP:0009020",
+ "display" : "Exercise-induced muscle fatigue"
+ },
+ {
+ "code" : "HP:0002067",
+ "display" : "Bradykinesia"
+ },
+ {
+ "code" : "HP:0012751",
+ "display" : "Abnormal basal ganglia MRI signal intensity"
+ },
+ {
+ "code" : "HP:0003355",
+ "display" : "Aminoaciduria"
+ },
+ {
+ "code" : "HP:0012450",
+ "display" : "Chronic constipation"
+ },
+ {
+ "code" : "HP:0011834",
+ "display" : "Moyamoya phenomenon"
+ },
+ {
+ "code" : "HP:0001297",
+ "display" : "Stroke"
+ },
+ {
+ "code" : "HP:0200049",
+ "display" : "Upper limb hypertonia"
+ },
+ {
+ "code" : "HP:0008981",
+ "display" : "Calf muscle hypertrophy"
+ },
+ {
+ "code" : "HP:0006785",
+ "display" : "Limb-girdle muscular dystrophy"
+ },
+ {
+ "code" : "HP:0006957",
+ "display" : "Loss of ability to walk"
+ },
+ {
+ "code" : "HP:0030098",
+ "display" : "Reduced muscle dystrophin expression"
+ },
+ {
+ "code" : "HP:0030115",
+ "display" : "Reduced muscle fiber dysferlin"
+ },
+ {
+ "code" : "HP:0002058",
+ "display" : "Myopathic facies"
+ },
+ {
+ "code" : "HP:0007858",
+ "display" : "Chorioretinal lacunae"
+ },
+ {
+ "code" : "HP:0006657",
+ "display" : "Hypoplasia of first ribs"
+ },
+ {
+ "code" : "HP:0007165",
+ "display" : "Periventricular heterotopia"
+ },
+ {
+ "code" : "HP:0009779",
+ "display" : "3-4 toe syndactyly"
+ },
+ {
+ "code" : "HP:0010665",
+ "display" : "Bilateral coxa valga"
+ },
+ {
+ "code" : "HP:0007598",
+ "display" : "Bilateral single transverse palmar creases"
+ },
+ {
+ "code" : "HP:0006101",
+ "display" : "Finger syndactyly"
+ },
+ {
+ "code" : "HP:0010511",
+ "display" : "Long toe"
+ },
+ {
+ "code" : "HP:0002370",
+ "display" : "Poor coordination"
+ },
+ {
+ "code" : "HP:0000480",
+ "display" : "Retinal coloboma"
+ },
+ {
+ "code" : "HP:0001770",
+ "display" : "Toe syndactyly"
+ },
+ {
+ "code" : "HP:0010851",
+ "display" : "EEG with burst suppression"
+ },
+ {
+ "code" : "HP:0002791",
+ "display" : "Hypoventilation"
+ },
+ {
+ "code" : "HP:0040075",
+ "display" : "Hypopituitarism"
+ },
+ {
+ "code" : "HP:0012506",
+ "display" : "Small pituitary gland"
+ },
+ {
+ "code" : "HP:0000538",
+ "display" : "Pseudopapilledema"
+ },
+ {
+ "code" : "HP:0012717",
+ "display" : "Severe conductive hearing impairment"
+ },
+ {
+ "code" : "HP:0001370",
+ "display" : "Rheumatoid arthritis"
+ },
+ {
+ "code" : "HP:0000016",
+ "display" : "Urinary retention"
+ },
+ {
+ "code" : "HP:0012537",
+ "display" : "Food intolerance"
+ },
+ {
+ "code" : "HP:0011297",
+ "display" : "Abnormal digit morphology"
+ },
+ {
+ "code" : "HP:0001273",
+ "display" : "Abnormal corpus callosum morphology"
+ },
+ {
+ "code" : "HP:0030148",
+ "display" : "Heart murmur"
+ },
+ {
+ "code" : "HP:0045018",
+ "display" : "Partial duplication of eyebrows"
+ },
+ {
+ "code" : "HP:0008998",
+ "display" : "Pectoralis hypoplasia"
+ },
+ {
+ "code" : "HP:0001707",
+ "display" : "Abnormal right ventricle morphology"
+ },
+ {
+ "code" : "HP:0001540",
+ "display" : "Diastasis recti"
+ },
+ {
+ "code" : "HP:0100693",
+ "display" : "Iridodonesis"
+ },
+ {
+ "code" : "HP:0002265",
+ "display" : "Large fleshy ears"
+ },
+ {
+ "code" : "HP:0001132",
+ "display" : "Lens subluxation"
+ },
+ {
+ "code" : "HP:0004927",
+ "display" : "Pulmonary artery dilatation"
+ },
+ {
+ "code" : "HP:0005619",
+ "display" : "Thoracolumbar kyphosis"
+ },
+ {
+ "code" : "HP:0008619",
+ "display" : "Bilateral sensorineural hearing impairment"
+ },
+ {
+ "code" : "HP:0001045",
+ "display" : "Vitiligo"
+ },
+ {
+ "code" : "HP:0009124",
+ "display" : "Abnormal adipose tissue morphology"
+ },
+ {
+ "code" : "HP:0002979",
+ "display" : "Bowing of the legs"
+ },
+ {
+ "code" : "HP:0000455",
+ "display" : "Broad nasal tip"
+ },
+ {
+ "code" : "HP:0001007",
+ "display" : "Hirsutism"
+ },
+ {
+ "code" : "HP:0010314",
+ "display" : "Premature thelarche"
+ },
+ {
+ "code" : "HP:0000075",
+ "display" : "Renal duplication"
+ },
+ {
+ "code" : "HP:0000368",
+ "display" : "Low-set, posteriorly rotated ears"
+ },
+ {
+ "code" : "HP:0001052",
+ "display" : "Nevus flammeus"
+ },
+ {
+ "code" : "HP:0200048",
+ "display" : "Cyanotic episode"
+ },
+ {
+ "code" : "HP:0001902",
+ "display" : "Giant platelets"
+ },
+ {
+ "code" : "HP:0030043",
+ "display" : "Hip subluxation"
+ },
+ {
+ "code" : "HP:0002938",
+ "display" : "Lumbar hyperlordosis"
+ },
+ {
+ "code" : "HP:0030084",
+ "display" : "Clinodactyly"
+ },
+ {
+ "code" : "HP:0005560",
+ "display" : "Imbalanced hemoglobin synthesis"
+ },
+ {
+ "code" : "HP:0001539",
+ "display" : "Omphalocele"
+ },
+ {
+ "code" : "HP:0009778",
+ "display" : "Short thumb"
+ },
+ {
+ "code" : "HP:0002277",
+ "display" : "Horner syndrome"
+ },
+ {
+ "code" : "HP:0011701",
+ "display" : "Multifocal atrial tachycardia"
+ },
+ {
+ "code" : "HP:0005274",
+ "display" : "Prominent nasal tip"
+ },
+ {
+ "code" : "HP:0001262",
+ "display" : "Excessive daytime somnolence"
+ },
+ {
+ "code" : "HP:0001285",
+ "display" : "Spastic tetraparesis"
+ },
+ {
+ "code" : "HP:0012171",
+ "display" : "Stereotypical hand wringing"
+ },
+ {
+ "code" : "HP:0002518",
+ "display" : "Abnormality of the periventricular white matter"
+ },
+ {
+ "code" : "HP:0005692",
+ "display" : "Joint hyperflexibility"
+ },
+ {
+ "code" : "HP:0007440",
+ "display" : "Generalized hyperpigmentation"
+ },
+ {
+ "code" : "HP:0001805",
+ "display" : "Onychogryposis"
+ },
+ {
+ "code" : "HP:0011945",
+ "display" : "Bronchiolitis obliterans organizing pneumonia"
+ },
+ {
+ "code" : "HP:0003763",
+ "display" : "Bruxism"
+ },
+ {
+ "code" : "HP:0010500",
+ "display" : "Hyperextensibility of the knee"
+ },
+ {
+ "code" : "HP:0040115",
+ "display" : "Abnormality of the Eustachian tube"
+ },
+ {
+ "code" : "HP:0008751",
+ "display" : "Laryngeal cleft"
+ },
+ {
+ "code" : "HP:0000403",
+ "display" : "Recurrent otitis media"
+ },
+ {
+ "code" : "HP:0001787",
+ "display" : "Abnormal delivery"
+ },
+ {
+ "code" : "HP:0002571",
+ "display" : "Achalasia"
+ },
+ {
+ "code" : "HP:0002615",
+ "display" : "Hypotension"
+ },
+ {
+ "code" : "HP:0003550",
+ "display" : "Predominantly lower limb lymphedema"
+ },
+ {
+ "code" : "HP:0030363",
+ "display" : "Primary Caesarian section"
+ },
+ {
+ "code" : "HP:0001727",
+ "display" : "Thromboembolic stroke"
+ },
+ {
+ "code" : "HP:0100603",
+ "display" : "Toxemia of pregnancy"
+ },
+ {
+ "code" : "HP:0010836",
+ "display" : "Abnormal circulating copper concentration"
+ },
+ {
+ "code" : "HP:0000356",
+ "display" : "Abnormality of the outer ear"
+ },
+ {
+ "code" : "HP:0002197",
+ "display" : "Generalized-onset seizure"
+ },
+ {
+ "code" : "HP:0011436",
+ "display" : "Abnormal maternal serum screening"
+ },
+ {
+ "code" : "HP:0003517",
+ "display" : "Birth length greater than 97th percentile"
+ },
+ {
+ "code" : "HP:0003561",
+ "display" : "Birth length less than 3rd percentile"
+ },
+ {
+ "code" : "HP:0012188",
+ "display" : "Hyperemesis gravidarum"
+ },
+ {
+ "code" : "HP:0010519",
+ "display" : "Increased fetal movement"
+ },
+ {
+ "code" : "HP:0030244",
+ "display" : "Maternal fever in pregnancy"
+ },
+ {
+ "code" : "HP:0008071",
+ "display" : "Maternal hypertension"
+ },
+ {
+ "code" : "HP:0100622",
+ "display" : "Maternal seizure"
+ },
+ {
+ "code" : "HP:0011438",
+ "display" : "Maternal teratogenic exposure"
+ },
+ {
+ "code" : "HP:0001998",
+ "display" : "Neonatal hypoglycemia"
+ },
+ {
+ "code" : "HP:0040187",
+ "display" : "Neonatal sepsis"
+ },
+ {
+ "code" : "HP:0002033",
+ "display" : "Poor suck"
+ },
+ {
+ "code" : "HP:0006579",
+ "display" : "Prolonged neonatal jaundice"
+ },
+ {
+ "code" : "HP:0001724",
+ "display" : "obsolete Aortic dilatation"
+ },
+ {
+ "code" : "HP:0010621",
+ "display" : "Cutaneous syndactyly of toes"
+ },
+ {
+ "code" : "HP:0001880",
+ "display" : "Eosinophilia"
+ },
+ {
+ "code" : "HP:0000162",
+ "display" : "Glossoptosis"
+ },
+ {
+ "code" : "HP:0100578",
+ "display" : "Lipoatrophy"
+ },
+ {
+ "code" : "HP:0002562",
+ "display" : "Low-set nipples"
+ },
+ {
+ "code" : "HP:0012893",
+ "display" : "Neck muscle hypertrophy"
+ },
+ {
+ "code" : "HP:0001027",
+ "display" : "Soft, doughy skin"
+ },
+ {
+ "code" : "HP:0100738",
+ "display" : "Abnormal eating behavior"
+ },
+ {
+ "code" : "HP:0007328",
+ "display" : "Impaired pain sensation"
+ },
+ {
+ "code" : "HP:0002878",
+ "display" : "Respiratory failure"
+ },
+ {
+ "code" : "HP:0001776",
+ "display" : "Bilateral talipes equinovarus"
+ },
+ {
+ "code" : "HP:0001360",
+ "display" : "Holoprosencephaly"
+ },
+ {
+ "code" : "HP:0001973",
+ "display" : "Autoimmune thrombocytopenia"
+ },
+ {
+ "code" : "HP:0100749",
+ "display" : "Chest pain"
+ },
+ {
+ "code" : "HP:0012531",
+ "display" : "Pain"
+ },
+ {
+ "code" : "HP:0007585",
+ "display" : "Skin fragility with non-scarring blistering"
+ },
+ {
+ "code" : "HP:0002108",
+ "display" : "Spontaneous pneumothorax"
+ },
+ {
+ "code" : "HP:0006562",
+ "display" : "Viral hepatitis"
+ },
+ {
+ "code" : "HP:0012647",
+ "display" : "Abnormal inflammatory response"
+ },
+ {
+ "code" : "HP:0012088",
+ "display" : "Abnormal urinary odor"
+ },
+ {
+ "code" : "HP:0011458",
+ "display" : "Abdominal symptom"
+ },
+ {
+ "code" : "HP:0002829",
+ "display" : "Arthralgia"
+ },
+ {
+ "code" : "HP:0010783",
+ "display" : "Erythema"
+ },
+ {
+ "code" : "HP:0010307",
+ "display" : "Stridor"
+ },
+ {
+ "code" : "HP:0001269",
+ "display" : "Hemiparesis"
+ },
+ {
+ "code" : "HP:0006532",
+ "display" : "Recurrent pneumonia"
+ },
+ {
+ "code" : "HP:0002580",
+ "display" : "Volvulus"
+ },
+ {
+ "code" : "HP:0012387",
+ "display" : "Bronchitis"
+ },
+ {
+ "code" : "HP:0001266",
+ "display" : "Choreoathetosis"
+ },
+ {
+ "code" : "HP:0001531",
+ "display" : "Failure to thrive in infancy"
+ },
+ {
+ "code" : "HP:0011470",
+ "display" : "Nasogastric tube feeding in infancy"
+ },
+ {
+ "code" : "HP:0001361",
+ "display" : "Nystagmus-induced head nodding"
+ },
+ {
+ "code" : "HP:0001997",
+ "display" : "Gout"
+ },
+ {
+ "code" : "HP:0000965",
+ "display" : "Cutis marmorata"
+ },
+ {
+ "code" : "HP:0010316",
+ "display" : "Ebstein anomaly of the tricuspid valve"
+ },
+ {
+ "code" : "HP:0010543",
+ "display" : "Opsoclonus"
+ },
+ {
+ "code" : "HP:0007704",
+ "display" : "Paroxysmal involuntary eye movements"
+ },
+ {
+ "code" : "HP:0030364",
+ "display" : "Secondary Caesarian section"
+ },
+ {
+ "code" : "HP:0007738",
+ "display" : "Uncontrolled eye movements"
+ },
+ {
+ "code" : "HP:0030366",
+ "display" : "Delivery by Odon device"
+ },
+ {
+ "code" : "HP:0011411",
+ "display" : "Forceps delivery"
+ },
+ {
+ "code" : "HP:0030369",
+ "display" : "Induced vaginal delivery"
+ },
+ {
+ "code" : "HP:0005268",
+ "display" : "Spontaneous abortion"
+ },
+ {
+ "code" : "HP:0030365",
+ "display" : "Vaginal birth after Caesarian"
+ },
+ {
+ "code" : "HP:0011412",
+ "display" : "Ventouse delivery"
+ },
+ {
+ "code" : "HP:0002572",
+ "display" : "Episodic vomiting"
+ },
+ {
+ "code" : "HP:0030350",
+ "display" : "Erythematous papule"
+ },
+ {
+ "code" : "HP:0001386",
+ "display" : "Joint swelling"
+ },
+ {
+ "code" : "HP:0000147",
+ "display" : "Polycystic ovaries"
+ },
+ {
+ "code" : "HP:0012412",
+ "display" : "Premature adrenarche"
+ },
+ {
+ "code" : "HP:0004411",
+ "display" : "Deviated nasal septum"
+ },
+ {
+ "code" : "HP:0040183",
+ "display" : "Encopresis"
+ },
+ {
+ "code" : "HP:0100507",
+ "display" : "Reduced blood folate concentration"
+ },
+ {
+ "code" : "HP:0007011",
+ "display" : "Fourth cranial nerve palsy"
+ },
+ {
+ "code" : "HP:0000375",
+ "display" : "Abnormal cochlea morphology"
+ },
+ {
+ "code" : "HP:0009911",
+ "display" : "Abnormal temporal bone morphology"
+ },
+ {
+ "code" : "HP:0000081",
+ "display" : "Duplicated collecting system"
+ },
+ {
+ "code" : "HP:0006894",
+ "display" : "Hypoplastic olfactory lobes"
+ },
+ {
+ "code" : "HP:0011380",
+ "display" : "Morphological abnormality of the semicircular canal"
+ },
+ {
+ "code" : "HP:0000110",
+ "display" : "Renal dysplasia"
+ },
+ {
+ "code" : "HP:0030025",
+ "display" : "Auricular pit"
+ },
+ {
+ "code" : "HP:0010044",
+ "display" : "Short 4th metacarpal"
+ },
+ {
+ "code" : "HP:0010047",
+ "display" : "Short 5th metacarpal"
+ },
+ {
+ "code" : "HP:0000201",
+ "display" : "Pierre-Robin sequence"
+ },
+ {
+ "code" : "HP:0100837",
+ "display" : "Atrophodermia vermiculata"
+ },
+ {
+ "code" : "HP:0002673",
+ "display" : "Coxa valga"
+ },
+ {
+ "code" : "HP:0001476",
+ "display" : "Delayed closure of the anterior fontanelle"
+ },
+ {
+ "code" : "HP:0011069",
+ "display" : "Increased number of teeth"
+ },
+ {
+ "code" : "HP:0009879",
+ "display" : "Simplified gyral pattern"
+ },
+ {
+ "code" : "HP:0006315",
+ "display" : "Single median maxillary incisor"
+ },
+ {
+ "code" : "HP:0001194",
+ "display" : "Abnormalities of placenta or umbilical cord"
+ },
+ {
+ "code" : "HP:0100767",
+ "display" : "Abnormal placenta morphology"
+ },
+ {
+ "code" : "HP:0006543",
+ "display" : "Cardiorespiratory arrest"
+ },
+ {
+ "code" : "HP:0003074",
+ "display" : "Hyperglycemia"
+ },
+ {
+ "code" : "HP:0000842",
+ "display" : "Hyperinsulinemia"
+ },
+ {
+ "code" : "HP:0011951",
+ "display" : "Aspiration pneumonia"
+ },
+ {
+ "code" : "HP:0006528",
+ "display" : "Chronic lung disease"
+ },
+ {
+ "code" : "HP:0002383",
+ "display" : "Encephalitis"
+ },
+ {
+ "code" : "HP:0000388",
+ "display" : "Otitis media"
+ },
+ {
+ "code" : "HP:0002530",
+ "display" : "Axial dystonia"
+ },
+ {
+ "code" : "HP:0002780",
+ "display" : "Bronchomalacia"
+ },
+ {
+ "code" : "HP:0008755",
+ "display" : "Laryngotracheomalacia"
+ },
+ {
+ "code" : "HP:0000308",
+ "display" : "Microretrognathia"
+ },
+ {
+ "code" : "HP:0002786",
+ "display" : "Tracheobronchomalacia"
+ },
+ {
+ "code" : "HP:0012389",
+ "display" : "Appendicular hypotonia"
+ },
+ {
+ "code" : "HP:0011323",
+ "display" : "Cleft of chin"
+ },
+ {
+ "code" : "HP:0000417",
+ "display" : "Slender nose"
+ },
+ {
+ "code" : "HP:0001863",
+ "display" : "Toe clinodactyly"
+ },
+ {
+ "code" : "HP:0008386",
+ "display" : "Aplasia/Hypoplasia of the nails"
+ },
+ {
+ "code" : "HP:0006989",
+ "display" : "Dysplastic corpus callosum"
+ },
+ {
+ "code" : "HP:0100954",
+ "display" : "Open operculum"
+ },
+ {
+ "code" : "HP:0004482",
+ "display" : "Relative macrocephaly"
+ },
+ {
+ "code" : "HP:3000033",
+ "display" : "Abnormal nasopharyngeal adenoid morphology"
+ },
+ {
+ "code" : "HP:0009062",
+ "display" : "Infantile axial hypotonia"
+ },
+ {
+ "code" : "HP:0002189",
+ "display" : "obsolete Excessive daytime sleepiness"
+ },
+ {
+ "code" : "HP:0002141",
+ "display" : "Gait imbalance"
+ },
+ {
+ "code" : "HP:0012734",
+ "display" : "Ketotic hypoglycemia"
+ },
+ {
+ "code" : "HP:0005968",
+ "display" : "Temperature instability"
+ },
+ {
+ "code" : "HP:0012538",
+ "display" : "Gluten intolerance"
+ },
+ {
+ "code" : "HP:0000979",
+ "display" : "Purpura"
+ },
+ {
+ "code" : "HP:0001988",
+ "display" : "Recurrent hypoglycemia"
+ },
+ {
+ "code" : "HP:0001488",
+ "display" : "Bilateral ptosis"
+ },
+ {
+ "code" : "HP:0011229",
+ "display" : "Broad eyebrow"
+ },
+ {
+ "code" : "HP:0004440",
+ "display" : "Coronal craniosynostosis"
+ },
+ {
+ "code" : "HP:0004453",
+ "display" : "Overfolding of the superior helices"
+ },
+ {
+ "code" : "HP:0012547",
+ "display" : "Abnormal involuntary eye movements"
+ },
+ {
+ "code" : "HP:0100814",
+ "display" : "Blue nevus"
+ },
+ {
+ "code" : "HP:0010751",
+ "display" : "Dimple chin"
+ },
+ {
+ "code" : "HP:0007087",
+ "display" : "obsolete Involuntary jerking movements"
+ },
+ {
+ "code" : "HP:0012498",
+ "display" : "Nuchal cord"
+ },
+ {
+ "code" : "HP:0002472",
+ "display" : "Small cerebral cortex"
+ },
+ {
+ "code" : "HP:0100307",
+ "display" : "Cerebellar hemisphere hypoplasia"
+ },
+ {
+ "code" : "HP:0002151",
+ "display" : "Increased serum lactate"
+ },
+ {
+ "code" : "HP:0001698",
+ "display" : "Pericardial effusion"
+ },
+ {
+ "code" : "HP:0006903",
+ "display" : "Congenital peripheral neuropathy"
+ },
+ {
+ "code" : "HP:0006895",
+ "display" : "Lower limb hypertonia"
+ },
+ {
+ "code" : "HP:0002744",
+ "display" : "Bilateral cleft lip and palate"
+ },
+ {
+ "code" : "HP:0010664",
+ "display" : "Fusion of the left and right thalami"
+ },
+ {
+ "code" : "HP:0000327",
+ "display" : "Hypoplasia of the maxilla"
+ },
+ {
+ "code" : "HP:0000474",
+ "display" : "Thickened nuchal skin fold"
+ },
+ {
+ "code" : "HP:0000105",
+ "display" : "Enlarged kidney"
+ },
+ {
+ "code" : "HP:0000113",
+ "display" : "Polycystic kidney dysplasia"
+ },
+ {
+ "code" : "HP:0000104",
+ "display" : "Renal agenesis"
+ },
+ {
+ "code" : "HP:0001362",
+ "display" : "Calvarial skull defect"
+ },
+ {
+ "code" : "HP:0008245",
+ "display" : "Pituitary hypothyroidism"
+ },
+ {
+ "code" : "HP:0001552",
+ "display" : "Barrel-shaped chest"
+ },
+ {
+ "code" : "HP:0006297",
+ "display" : "Hypoplasia of dental enamel"
+ },
+ {
+ "code" : "HP:0100023",
+ "display" : "Recurrent hand flapping"
+ },
+ {
+ "code" : "HP:0005518",
+ "display" : "Increased mean corpuscular volume"
+ },
+ {
+ "code" : "HP:0012418",
+ "display" : "Hypoxemia"
+ },
+ {
+ "code" : "HP:0100259",
+ "display" : "Postaxial polydactyly"
+ },
+ {
+ "code" : "HP:0010814",
+ "display" : "Abnormal position of hair whorl"
+ },
+ {
+ "code" : "HP:0003764",
+ "display" : "Nevus"
+ },
+ {
+ "code" : "HP:0000445",
+ "display" : "Wide nose"
+ },
+ {
+ "code" : "HP:0010677",
+ "display" : "Enuresis nocturna"
+ },
+ {
+ "code" : "HP:0001510",
+ "display" : "Growth delay"
+ },
+ {
+ "code" : "HP:0012428",
+ "display" : "Prominent calcaneus"
+ },
+ {
+ "code" : "HP:0012471",
+ "display" : "Thick vermilion border"
+ },
+ {
+ "code" : "HP:0007110",
+ "display" : "Central hypoventilation"
+ },
+ {
+ "code" : "HP:0010614",
+ "display" : "Fibroma"
+ },
+ {
+ "code" : "HP:0001034",
+ "display" : "Hypermelanotic macule"
+ },
+ {
+ "code" : "HP:0011365",
+ "display" : "Patchy hypopigmentation of hair"
+ },
+ {
+ "code" : "HP:0001920",
+ "display" : "Renal artery stenosis"
+ },
+ {
+ "code" : "HP:0002828",
+ "display" : "Multiple joint contractures"
+ },
+ {
+ "code" : "HP:0002144",
+ "display" : "Tethered cord"
+ },
+ {
+ "code" : "HP:0010964",
+ "display" : "Abnormal circulating long-chain fatty-acid concentration"
+ },
+ {
+ "code" : "HP:0010536",
+ "display" : "Central sleep apnea"
+ },
+ {
+ "code" : "HP:0011262",
+ "display" : "Crimped helix"
+ },
+ {
+ "code" : "HP:0040079",
+ "display" : "Irregular dentition"
+ },
+ {
+ "code" : "HP:0011481",
+ "display" : "Abnormal lacrimal duct morphology"
+ },
+ {
+ "code" : "HP:0000220",
+ "display" : "Velopharyngeal insufficiency"
+ },
+ {
+ "code" : "HP:0002153",
+ "display" : "Hyperkalemia"
+ },
+ {
+ "code" : "HP:0002148",
+ "display" : "Hypophosphatemia"
+ },
+ {
+ "code" : "HP:0012621",
+ "display" : "Persistent cloaca"
+ },
+ {
+ "code" : "HP:0000867",
+ "display" : "Secondary hyperparathyroidism"
+ },
+ {
+ "code" : "HP:0003762",
+ "display" : "Uterus didelphys"
+ },
+ {
+ "code" : "HP:0100512",
+ "display" : "Low levels of vitamin D"
+ },
+ {
+ "code" : "HP:0012156",
+ "display" : "Hemophagocytosis"
+ },
+ {
+ "code" : "HP:0008209",
+ "display" : "Premature ovarian insufficiency"
+ },
+ {
+ "code" : "HP:0004349",
+ "display" : "Reduced bone mineral density"
+ },
+ {
+ "code" : "HP:0001924",
+ "display" : "Sideroblastic anemia"
+ },
+ {
+ "code" : "HP:0011703",
+ "display" : "Sinus tachycardia"
+ },
+ {
+ "code" : "HP:0010609",
+ "display" : "Skin tags"
+ },
+ {
+ "code" : "HP:0002725",
+ "display" : "Systemic lupus erythematosus"
+ },
+ {
+ "code" : "HP:0003193",
+ "display" : "Allergic rhinitis"
+ },
+ {
+ "code" : "HP:0006896",
+ "display" : "Hypnopompic hallucinations"
+ },
+ {
+ "code" : "HP:0002524",
+ "display" : "Cataplexy"
+ },
+ {
+ "code" : "HP:0005227",
+ "display" : "Adenomatous colonic polyposis"
+ },
+ {
+ "code" : "HP:0012173",
+ "display" : "Orthostatic tachycardia"
+ },
+ {
+ "code" : "HP:0001271",
+ "display" : "Polyneuropathy"
+ },
+ {
+ "code" : "HP:0009120",
+ "display" : "Aplasia/Hypoplasia involving the sinuses"
+ },
+ {
+ "code" : "HP:0000625",
+ "display" : "Eyelid coloboma"
+ },
+ {
+ "code" : "HP:0009754",
+ "display" : "Fibrous syngnathia"
+ },
+ {
+ "code" : "HP:0012478",
+ "display" : "Temporomandibular joint ankylosis"
+ },
+ {
+ "code" : "HP:0001233",
+ "display" : "2-3 finger syndactyly"
+ },
+ {
+ "code" : "HP:0000811",
+ "display" : "Abnormal external genitalia"
+ },
+ {
+ "code" : "HP:0005120",
+ "display" : "Abnormal cardiac atrium morphology"
+ },
+ {
+ "code" : "HP:0008388",
+ "display" : "Abnormal toenail morphology"
+ },
+ {
+ "code" : "HP:0011467",
+ "display" : "Absent gallbladder"
+ },
+ {
+ "code" : "HP:0010760",
+ "display" : "Absent toe"
+ },
+ {
+ "code" : "HP:0001545",
+ "display" : "Anteriorly placed anus"
+ },
+ {
+ "code" : "HP:0001640",
+ "display" : "Cardiomegaly"
+ },
+ {
+ "code" : "HP:0002990",
+ "display" : "Fibular aplasia"
+ },
+ {
+ "code" : "HP:0004443",
+ "display" : "Lambdoidal craniosynostosis"
+ },
+ {
+ "code" : "HP:0008569",
+ "display" : "Microtia, second degree"
+ },
+ {
+ "code" : "HP:0006277",
+ "display" : "Pancreatic hyperplasia"
+ },
+ {
+ "code" : "HP:0010445",
+ "display" : "Primum atrial septal defect"
+ },
+ {
+ "code" : "HP:0011640",
+ "display" : "Single coronary artery origin"
+ },
+ {
+ "code" : "HP:0011608",
+ "display" : "Type II truncus arteriosus"
+ },
+ {
+ "code" : "HP:0011327",
+ "display" : "Posterior plagiocephaly"
+ },
+ {
+ "code" : "HP:0007655",
+ "display" : "Eversion of lateral third of lower eyelids"
+ },
+ {
+ "code" : "HP:0010747",
+ "display" : "Medial flaring of the eyebrow"
+ },
+ {
+ "code" : "HP:0005957",
+ "display" : "Breathing dysregulation"
+ },
+ {
+ "code" : "HP:0000992",
+ "display" : "Cutaneous photosensitivity"
+ },
+ {
+ "code" : "HP:0011995",
+ "display" : "Atrial septal dilatation"
+ },
+ {
+ "code" : "HP:0000377",
+ "display" : "Abnormality of the pinna"
+ },
+ {
+ "code" : "HP:0011266",
+ "display" : "Microtia, first degree"
+ },
+ {
+ "code" : "HP:0012650",
+ "display" : "Perisylvian polymicrogyria"
+ },
+ {
+ "code" : "HP:0004970",
+ "display" : "Ascending tubular aorta aneurysm"
+ },
+ {
+ "code" : "HP:0008348",
+ "display" : "Decreased circulating IgG2 level"
+ },
+ {
+ "code" : "HP:0012115",
+ "display" : "Hepatitis"
+ },
+ {
+ "code" : "HP:0006979",
+ "display" : "Sleep-wake cycle disturbance"
+ },
+ {
+ "code" : "HP:0008587",
+ "display" : "Mild neurosensory hearing impairment"
+ },
+ {
+ "code" : "HP:0006097",
+ "display" : "3-4 finger syndactyly"
+ },
+ {
+ "code" : "HP:0005263",
+ "display" : "Gastritis"
+ },
+ {
+ "code" : "HP:0200043",
+ "display" : "Verrucae"
+ },
+ {
+ "code" : "HP:0009600",
+ "display" : "Flexion contracture of thumb"
+ },
+ {
+ "code" : "HP:0010818",
+ "display" : "Generalized tonic seizure"
+ },
+ {
+ "code" : "HP:0002599",
+ "display" : "Head titubation"
+ },
+ {
+ "code" : "HP:0002090",
+ "display" : "Pneumonia"
+ },
+ {
+ "code" : "HP:0030423",
+ "display" : "Splenic cyst"
+ },
+ {
+ "code" : "HP:0030187",
+ "display" : "Titubation"
+ },
+ {
+ "code" : "HP:0002375",
+ "display" : "Hypokinesia"
+ },
+ {
+ "code" : "HP:0007166",
+ "display" : "Paroxysmal dyskinesia"
+ },
+ {
+ "code" : "HP:0003077",
+ "display" : "Hyperlipidemia"
+ },
+ {
+ "code" : "HP:0000017",
+ "display" : "Nocturia"
+ },
+ {
+ "code" : "HP:0100555",
+ "display" : "Asymmetric growth"
+ },
+ {
+ "code" : "HP:0011847",
+ "display" : "Giant cell tumor of bone"
+ },
+ {
+ "code" : "HP:0000112",
+ "display" : "Nephropathy"
+ },
+ {
+ "code" : "HP:0000246",
+ "display" : "Sinusitis"
+ },
+ {
+ "code" : "HP:0001012",
+ "display" : "Multiple lipomas"
+ },
+ {
+ "code" : "HP:0000851",
+ "display" : "Congenital hypothyroidism"
+ },
+ {
+ "code" : "HP:0002345",
+ "display" : "Action tremor"
+ },
+ {
+ "code" : "HP:0002677",
+ "display" : "Small foramen magnum"
+ },
+ {
+ "code" : "HP:0011947",
+ "display" : "Respiratory tract infection"
+ },
+ {
+ "code" : "HP:0012151",
+ "display" : "Hemothorax"
+ },
+ {
+ "code" : "HP:0005988",
+ "display" : "Congenital muscular torticollis"
+ },
+ {
+ "code" : "HP:0002329",
+ "display" : "Drowsiness"
+ },
+ {
+ "code" : "HP:0012395",
+ "display" : "Seasonal allergy"
+ },
+ {
+ "code" : "HP:0011679",
+ "display" : "Tetralogy of Fallot with pulmonary stenosis"
+ },
+ {
+ "code" : "HP:0001864",
+ "display" : "Clinodactyly of the 5th toe"
+ },
+ {
+ "code" : "HP:0006934",
+ "display" : "Congenital nystagmus"
+ },
+ {
+ "code" : "HP:0100355",
+ "display" : "Contractures of the distal interphalangeal joint of the 5th toe"
+ },
+ {
+ "code" : "HP:0007894",
+ "display" : "Hypopigmentation of the fundus"
+ },
+ {
+ "code" : "HP:0012377",
+ "display" : "Hemianopia"
+ },
+ {
+ "code" : "HP:0002354",
+ "display" : "Memory impairment"
+ },
+ {
+ "code" : "HP:0000872",
+ "display" : "Hashimoto thyroiditis"
+ },
+ {
+ "code" : "HP:0002519",
+ "display" : "Hypnagogic hallucinations"
+ },
+ {
+ "code" : "HP:0010647",
+ "display" : "Abnormal elasticity of skin"
+ },
+ {
+ "code" : "HP:0002592",
+ "display" : "Gastric ulcer"
+ },
+ {
+ "code" : "HP:0004938",
+ "display" : "Tortuous cerebral arteries"
+ },
+ {
+ "code" : "HP:0004948",
+ "display" : "Vascular tortuosity"
+ },
+ {
+ "code" : "HP:0002516",
+ "display" : "Increased intracranial pressure"
+ },
+ {
+ "code" : "HP:0006460",
+ "display" : "Increased laxity of ankles"
+ },
+ {
+ "code" : "HP:0002317",
+ "display" : "Unsteady gait"
+ },
+ {
+ "code" : "HP:0000182",
+ "display" : "Movement abnormality of the tongue"
+ },
+ {
+ "code" : "HP:0009887",
+ "display" : "Abnormality of hair pigmentation"
+ },
+ {
+ "code" : "HP:0005824",
+ "display" : "Clinodactyly of the 2nd toe"
+ },
+ {
+ "code" : "HP:0002212",
+ "display" : "Curly hair"
+ },
+ {
+ "code" : "HP:0009803",
+ "display" : "Short phalanx of finger"
+ },
+ {
+ "code" : "HP:0000572",
+ "display" : "Visual loss"
+ },
+ {
+ "code" : "HP:0005216",
+ "display" : "Impaired mastication"
+ },
+ {
+ "code" : "HP:0000619",
+ "display" : "Impaired convergence"
+ },
+ {
+ "code" : "HP:0002403",
+ "display" : "Positive Romberg sign"
+ },
+ {
+ "code" : "HP:0008744",
+ "display" : "Abnormal aryepiglottic fold morphology"
+ },
+ {
+ "code" : "HP:0002374",
+ "display" : "Diminished movement"
+ },
+ {
+ "code" : "HP:0008277",
+ "display" : "Abnormal blood zinc concentration"
+ },
+ {
+ "code" : "HP:0012781",
+ "display" : "Mid-frequency hearing loss"
+ },
+ {
+ "code" : "HP:0100758",
+ "display" : "Gangrene"
+ },
+ {
+ "code" : "HP:0003256",
+ "display" : "Abnormality of the coagulation cascade"
+ },
+ {
+ "code" : "HP:0004387",
+ "display" : "Enterocolitis"
+ },
+ {
+ "code" : "HP:0011029",
+ "display" : "Internal hemorrhage"
+ },
+ {
+ "code" : "HP:0011649",
+ "display" : "Patent ductus arteriosus after premature birth"
+ },
+ {
+ "code" : "HP:0012050",
+ "display" : "Anasarca"
+ },
+ {
+ "code" : "HP:0001683",
+ "display" : "Ectopia cordis"
+ },
+ {
+ "code" : "HP:0011682",
+ "display" : "Perimembranous ventricular septal defect"
+ },
+ {
+ "code" : "HP:0010624",
+ "display" : "Aplastic/hypoplastic toenail"
+ },
+ {
+ "code" : "HP:0002705",
+ "display" : "High, narrow palate"
+ },
+ {
+ "code" : "HP:0011340",
+ "display" : "Incomplete cleft of the upper lip"
+ },
+ {
+ "code" : "HP:0011613",
+ "display" : "Interrupted aortic arch type B"
+ },
+ {
+ "code" : "HP:0006167",
+ "display" : "Prominent proximal interphalangeal joints"
+ },
+ {
+ "code" : "HP:0002918",
+ "display" : "Hypermagnesemia"
+ },
+ {
+ "code" : "HP:0011937",
+ "display" : "Hypoplastic fifth toenail"
+ },
+ {
+ "code" : "HP:0001067",
+ "display" : "Neurofibromas"
+ },
+ {
+ "code" : "HP:0011403",
+ "display" : "Abnormal umbilical cord blood vessels"
+ },
+ {
+ "code" : "HP:0003316",
+ "display" : "Butterfly vertebrae"
+ },
+ {
+ "code" : "HP:0002247",
+ "display" : "Duodenal atresia"
+ },
+ {
+ "code" : "HP:0008439",
+ "display" : "Lumbar hemivertebrae"
+ },
+ {
+ "code" : "HP:0011599",
+ "display" : "Mesocardia"
+ },
+ {
+ "code" : "HP:0008467",
+ "display" : "Thoracic hemivertebrae"
+ },
+ {
+ "code" : "HP:0004626",
+ "display" : "Lumbar scoliosis"
+ },
+ {
+ "code" : "HP:0006808",
+ "display" : "Cerebral hypomyelination"
+ },
+ {
+ "code" : "HP:0002926",
+ "display" : "Abnormality of thyroid physiology"
+ },
+ {
+ "code" : "HP:0007970",
+ "display" : "Congenital ptosis"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-hpo.json.html b/CodeSystem-hpo.json.html
index 756b5e60..77ff08b3 100644
--- a/CodeSystem-hpo.json.html
+++ b/CodeSystem-hpo.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Human Phenotype Ontology - JSON Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Human Phenotype Ontology - JSON Representation
"title" : "Human Phenotype Ontology",
"status" : "draft",
"experimental" : false,
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -7925,7 +7925,7 @@ : Human Phenotype Ontology - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo.ttl b/CodeSystem-hpo.ttl
index 7b6ca728..63f90370 100644
--- a/CodeSystem-hpo.ttl
+++ b/CodeSystem-hpo.ttl
@@ -7,19 +7,19 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "hpo"];
+ fhir:Resource.id [ fhir:value "hpo"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "Properties
Code | Type | Description |
parent | code | Parent codes. |
imported | boolean | Indicates if the concept is imported from another code system. |
root | boolean | Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent) |
deprecated | boolean | Indicates if this concept is deprecated. |
Filters
Code | Description | operator | Value |
root | | = | True or false. |
deprecated | | = | True or false. |
imported | | = | True or false |
This code system http://purl.obolibrary.org/obo/hp.owl
defines many codes, of which the following are a subset:
Code | Display |
HP:0000365 | Hearing impairment |
HP:0002564 | obsolete Malformation of the heart and great vessels |
HP:0001028 | Hemangioma |
HP:0000476 | Cystic hygroma |
HP:0000568 | Microphthalmia |
HP:0000518 | Cataract |
HP:0000612 | Iris coloboma |
HP:0000567 | Chorioretinal coloboma |
HP:0000316 | Hypertelorism |
HP:0000482 | Microcornea |
HP:0000588 | Optic nerve coloboma |
HP:0004426 | Abnormality of the cheek |
HP:0009125 | Lipodystrophy |
HP:0002023 | Anal atresia |
HP:0003468 | Abnormal vertebral morphology |
HP:0000545 | Myopia |
HP:0000122 | Unilateral renal agenesis |
HP:0002143 | Abnormality of the spinal cord |
HP:0003508 | Proportionate short stature |
HP:0000271 | Abnormality of the face |
HP:0000637 | Long palpebral fissure |
HP:0000492 | Abnormal eyelid morphology |
HP:0000389 | Chronic otitis media |
HP:0000400 | Macrotia |
HP:0000405 | Conductive hearing impairment |
HP:0012712 | Mild hearing impairment |
HP:0005280 | Depressed nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000319 | Smooth philtrum |
HP:0000175 | Cleft palate |
HP:0001611 | Nasal speech |
HP:0002099 | Asthma |
HP:0001397 | Hepatic steatosis |
HP:0001081 | Cholelithiasis |
HP:0002650 | Scoliosis |
HP:0001212 | Prominent fingertip pads |
HP:0001328 | Specific learning disability |
HP:0000824 | Growth hormone deficiency |
HP:0002607 | Bowel incontinence |
HP:0100731 | Transverse facial cleft |
HP:0000528 | Anophthalmia |
HP:0000601 | Hypotelorism |
HP:0000369 | Low-set ears |
HP:0001274 | Agenesis of corpus callosum |
HP:0002084 | Encephalocele |
HP:0007033 | Cerebellar dysplasia |
HP:0100336 | Bilateral cleft lip |
HP:0100337 | Bilateral cleft palate |
HP:0001511 | Intrauterine growth retardation |
HP:0011451 | Congenital microcephaly |
HP:0000324 | Facial asymmetry |
HP:0000581 | Blepharophimosis |
HP:0000508 | Ptosis |
HP:0008551 | Microtia |
HP:0001631 | Atrial septal defect |
HP:0000085 | Horseshoe kidney |
HP:0011927 | Short digit |
HP:0001156 | Brachydactyly |
HP:0002066 | Gait ataxia |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001562 | Oligohydramnios |
HP:0001195 | Single umbilical artery |
HP:0006349 | Agenesis of permanent teeth |
HP:0000668 | Hypodontia |
HP:0000677 | Oligodontia |
HP:0001252 | Muscular hypotonia |
HP:0003429 | CNS hypomyelination |
HP:0010864 | Intellectual disability, severe |
HP:0004325 | Decreased body weight |
HP:0000666 | Horizontal nystagmus |
HP:0000218 | High palate |
HP:0010809 | Broad uvula |
HP:0000767 | Pectus excavatum |
HP:0003691 | Scapular winging |
HP:0002616 | Aortic root aneurysm |
HP:0001601 | Laryngomalacia |
HP:0002021 | Pyloric stenosis |
HP:0001388 | Joint laxity |
HP:0001187 | Hyperextensibility of the finger joints |
HP:0000741 | Apathy |
HP:0000817 | Poor eye contact |
HP:0000821 | Hypothyroidism |
HP:0000002 | Abnormality of body height |
HP:0000079 | Abnormality of the urinary system |
HP:0000164 | Abnormality of the dentition |
HP:0000364 | Hearing abnormality |
HP:0000366 | Abnormality of the nose |
HP:0000464 | Abnormality of the neck |
HP:0000707 | Abnormality of the nervous system |
HP:0000708 | Behavioral abnormality |
HP:0000769 | Abnormality of the breast |
HP:0000772 | Abnormality of the ribs |
HP:0000775 | Abnormality of the diaphragm |
HP:0000889 | Abnormality of the clavicle |
HP:0000925 | Abnormality of the vertebral column |
HP:0001080 | Biliary tract abnormality |
HP:0001392 | Abnormality of the liver |
HP:0001438 | Abnormal abdomen morphology |
HP:0001608 | Abnormality of the voice |
HP:0001627 | Abnormal heart morphology |
HP:0001732 | Abnormality of the pancreas |
HP:0001739 | Abnormality of the nasopharynx |
HP:0001743 | Abnormality of the spleen |
HP:0001760 | Abnormal foot morphology |
HP:0001871 | Abnormality of blood and blood-forming tissues |
HP:0002031 | Abnormal esophagus morphology |
HP:0002244 | Abnormality of the small intestine |
HP:0002246 | Abnormality of the duodenum |
HP:0002250 | Abnormal large intestine morphology |
HP:0002644 | Abnormality of pelvic girdle bone morphology |
HP:0002664 | Neoplasm |
HP:0002715 | Abnormality of the immune system |
HP:0002814 | Abnormality of the lower limb |
HP:0002817 | Abnormality of the upper limb |
HP:0005483 | Abnormal epiglottis morphology |
HP:0008777 | Abnormal vocal cord morphology |
HP:0011844 | Abnormal appendicular skeleton morphology |
HP:0012732 | Anorectal anomaly |
HP:0001508 | Failure to thrive |
HP:0002902 | Hyponatremia |
HP:0012236 | Elevated sweat chloride |
HP:0000347 | Micrognathia |
HP:0000926 | Platyspondyly |
HP:0001371 | Flexion contracture |
HP:0001875 | Neutropenia |
HP:0001888 | Lymphopenia |
HP:0002857 | Genu valgum |
HP:0002986 | Radial bowing |
HP:0003015 | Flared metaphysis |
HP:0003025 | Metaphyseal irregularity |
HP:0003097 | Short femur |
HP:0003300 | Ovoid vertebral bodies |
HP:0003307 | Hyperlordosis |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004322 | Short stature |
HP:0005792 | Short humerus |
HP:0006248 | Limited wrist movement |
HP:0000944 | Abnormality of the metaphysis |
HP:0011921 | Exudative pleural effusion |
HP:0003043 | Abnormality of the shoulder |
HP:0000290 | Abnormality of the forehead |
HP:0005288 | Abnormality of the nares |
HP:0000234 | Abnormality of the head |
HP:0004323 | Abnormality of body weight |
HP:0000483 | Astigmatism |
HP:0011003 | High myopia |
HP:0000470 | Short neck |
HP:0030044 | Flexion contracture of digit |
HP:0100871 | Abnormality of the palm |
HP:0004334 | Dermal atrophy |
HP:0001845 | Overlapping toe |
HP:0000496 | Abnormality of eye movement |
HP:0001780 | Abnormality of toe |
HP:0001626 | Abnormality of the cardiovascular system |
HP:0002086 | Abnormality of the respiratory system |
HP:0000818 | Abnormality of the endocrine system |
HP:0012372 | Abnormal eye morphology |
HP:0009473 | Joint contracture of the hand |
HP:0003199 | Decreased muscle mass |
HP:0003202 | Skeletal muscle atrophy |
HP:0003551 | Difficulty climbing stairs |
HP:0002355 | Difficulty walking |
HP:0003546 | Exercise intolerance |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003701 | Proximal muscle weakness |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0007340 | Lower limb muscle weakness |
HP:0002168 | Scanning speech |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0003477 | Peripheral axonal neuropathy |
HP:0000924 | Abnormality of the skeletal system |
HP:0001291 | Abnormal cranial nerve morphology |
HP:0003687 | Centrally nucleated skeletal muscle fibers |
HP:0001324 | Muscle weakness |
HP:0002515 | Waddling gait |
HP:0100280 | Crohn's disease |
HP:0002631 | obsolete Dilatation of ascending aorta |
HP:0100026 | Arteriovenous malformation |
HP:0002637 | Cerebral ischemia |
HP:0002619 | Varicose veins |
HP:0001159 | Syndactyly |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0000977 | Soft skin |
HP:0010648 | Dermal translucency |
HP:0000978 | Bruising susceptibility |
HP:0001956 | Truncal obesity |
HP:0000189 | Narrow palate |
HP:0000678 | Dental crowding |
HP:0002870 | Obstructive sleep apnea |
HP:0001763 | Pes planus |
HP:0000782 | Abnormality of the scapula |
HP:0001600 | Abnormality of the larynx |
HP:0002088 | Abnormal lung morphology |
HP:0011407 | Proportionate tall stature |
HP:0000541 | Retinal detachment |
HP:0001373 | Joint dislocation |
HP:0000938 | Osteopenia |
HP:0002942 | Thoracic kyphosis |
HP:0001840 | Metatarsus adductus |
HP:0001844 | Abnormality of the hallux |
HP:0001765 | Hammertoe |
HP:0000606 | Abnormality of the periorbital region |
HP:0002757 | Recurrent fractures |
HP:0000647 | Sclerocornea |
HP:0001166 | Arachnodactyly |
HP:0005490 | Postnatal macrocephaly |
HP:0011363 | Abnormality of hair growth rate |
HP:0000276 | Long face |
HP:0000275 | Narrow face |
HP:0000337 | Broad forehead |
HP:0002267 | Exaggerated startle response |
HP:0002187 | Intellectual disability, profound |
HP:0000728 | Impaired ability to form peer relationships |
HP:0000733 | Stereotypy |
HP:0000739 | Anxiety |
HP:0000929 | Abnormal skull morphology |
HP:0001965 | Abnormal scalp morphology |
HP:0100538 | Abnormality of the supraorbital ridges |
HP:0000309 | Abnormality of the midface |
HP:0000277 | Abnormality of the mandible |
HP:0000765 | Abnormality of the thorax |
HP:0100008 | Schwannoma |
HP:0030038 | Enchondroma |
HP:0100777 | Exostoses |
HP:0011663 | Right ventricular cardiomyopathy |
HP:0011675 | Arrhythmia |
HP:0001962 | Palpitations |
HP:0001279 | Syncope |
HP:0004756 | Ventricular tachycardia |
HP:0000252 | Microcephaly |
HP:0000303 | Mandibular prognathia |
HP:0000664 | Synophrys |
HP:0001609 | Hoarse voice |
HP:0002558 | Supernumerary nipple |
HP:0001634 | Mitral valve prolapse |
HP:0000028 | Cryptorchidism |
HP:0000973 | Cutis laxa |
HP:0001518 | Small for gestational age |
HP:0000527 | Long eyelashes |
HP:0002808 | Kyphosis |
HP:0000248 | Brachycephaly |
HP:0000505 | Visual impairment |
HP:0000512 | Abnormal electroretinogram |
HP:0000517 | Abnormality of the lens |
HP:0000529 | Progressive visual loss |
HP:0000586 | Shallow orbits |
HP:0000603 | Central scotoma |
HP:0000939 | Osteoporosis |
HP:0001377 | Limited elbow extension |
HP:0001387 | Joint stiffness |
HP:0001822 | Hallux valgus |
HP:0002657 | Spondylometaphyseal dysplasia |
HP:0003026 | Short long bone |
HP:0006462 | Generalized bone demineralization |
HP:0008873 | Disproportionate short-limb short stature |
HP:0008905 | Rhizomelia |
HP:0008922 | Childhood-onset short-trunk short stature |
HP:0200020 | Corneal erosion |
HP:0001172 | Abnormal thumb morphology |
HP:0002286 | Fair hair |
HP:0010719 | Abnormality of hair texture |
HP:0010720 | Abnormal hair pattern |
HP:0001635 | Congestive heart failure |
HP:0001644 | Dilated cardiomyopathy |
HP:0001663 | Ventricular fibrillation |
HP:0011712 | Right bundle branch block |
HP:0000272 | Malar flattening |
HP:0000286 | Epicanthus |
HP:0000322 | Short philtrum |
HP:0000463 | Anteverted nares |
HP:0000494 | Downslanted palpebral fissures |
HP:0000543 | Optic disc pallor |
HP:0000699 | Diastema |
HP:0000773 | Short ribs |
HP:0000887 | Cupped ribs |
HP:0000946 | Hypoplastic ilia |
HP:0000954 | Single transverse palmar crease |
HP:0001182 | Tapered finger |
HP:0001537 | Umbilical hernia |
HP:0002007 | Frontal bossing |
HP:0002980 | Femoral bowing |
HP:0002982 | Tibial bowing |
HP:0003021 | Metaphyseal cupping |
HP:0005011 | Mesomelic arm shortening |
HP:0008803 | obsolete Narrow sacroiliac notch |
HP:0009117 | Aplasia/Hypoplasia of the maxilla |
HP:0011220 | Prominent forehead |
HP:0012801 | Narrow jaw |
HP:0000243 | Trigonocephaly |
HP:0000358 | Posteriorly rotated ears |
HP:0000411 | Protruding ear |
HP:0000646 | Amblyopia |
HP:0002812 | Coxa vara |
HP:0002970 | Genu varum |
HP:0012775 | Stellate iris |
HP:0000278 | Retrognathia |
HP:0009796 | Branchial cyst |
HP:0002474 | Expressive language delay |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0003198 | Myopathy |
HP:0003324 | Generalized muscle weakness |
HP:0003552 | Muscle stiffness |
HP:0003554 | Type 2 muscle fiber atrophy |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0009025 | Increased connective tissue |
HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
HP:0002597 | Abnormality of the vasculature |
HP:0001649 | Tachycardia |
HP:0001638 | Cardiomyopathy |
HP:0001654 | Abnormal heart valve morphology |
HP:0001671 | Abnormal cardiac septum morphology |
HP:0000103 | Polyuria |
HP:0000114 | Proximal tubulopathy |
HP:0001878 | Hemolytic anemia |
HP:0001931 | Hypochromic anemia |
HP:0001935 | Microcytic anemia |
HP:0001959 | Polydipsia |
HP:0001994 | Renal Fanconi syndrome |
HP:0002134 | Abnormality of the basal ganglia |
HP:0002188 | Delayed CNS myelination |
HP:0002908 | Conjugated hyperbilirubinemia |
HP:0003774 | Stage 5 chronic kidney disease |
HP:0010700 | obsolete Total cataract |
HP:0000193 | Bifid uvula |
HP:0000219 | Thin upper lip vermilion |
HP:0000426 | Prominent nasal bridge |
HP:0000452 | Choanal stenosis |
HP:0000490 | Deeply set eye |
HP:0000540 | Hypermetropia |
HP:0000579 | Nasolacrimal duct obstruction |
HP:0000684 | Delayed eruption of teeth |
HP:0000960 | Sacral dimple |
HP:0000998 | Hypertrichosis |
HP:0001643 | Patent ductus arteriosus |
HP:0010813 | Abnormal number of hair whorls |
HP:0012384 | Rhinitis |
HP:0012745 | Short palpebral fissure |
HP:0000359 | Abnormality of the inner ear |
HP:0000429 | Abnormality of the nasal alae |
HP:0000436 | Abnormality of the nasal tip |
HP:0000499 | Abnormal eyelash morphology |
HP:0000534 | Abnormal eyebrow morphology |
HP:0000951 | Abnormality of the skin |
HP:0001000 | Abnormality of skin pigmentation |
HP:0001597 | Abnormality of the nail |
HP:0006483 | Abnormal number of teeth |
HP:0009929 | Abnormality of the columella |
HP:0011119 | Abnormality of the nasal dorsum |
HP:0012808 | Abnormal nasal base |
HP:0100490 | Camptodactyly of finger |
HP:0000964 | Eczema |
HP:0004442 | Sagittal craniosynostosis |
HP:0000414 | Bulbous nose |
HP:0003180 | Flat acetabular roof |
HP:0000422 | Abnormality of the nasal bridge |
HP:0000614 | Abnormal nasolacrimal system morphology |
HP:0001167 | Abnormality of finger |
HP:0001595 | Abnormal hair morphology |
HP:0012373 | Abnormal eye physiology |
HP:0001655 | Patent foramen ovale |
HP:0001647 | Bicuspid aortic valve |
HP:0000574 | Thick eyebrow |
HP:0001169 | Broad palm |
HP:0006471 | Fixed elbow flexion |
HP:0008689 | Bilateral cryptorchidism |
HP:0011304 | Broad thumb |
HP:0005110 | Atrial fibrillation |
HP:0001633 | Abnormal mitral valve morphology |
HP:0001641 | Abnormal pulmonary valve morphology |
HP:0001702 | Abnormal tricuspid valve morphology |
HP:0000012 | Urinary urgency |
HP:0000020 | Urinary incontinence |
HP:0000131 | Uterine leiomyoma |
HP:0000132 | Menorrhagia |
HP:0000138 | Ovarian cyst |
HP:0000853 | Goiter |
HP:0000953 | Hyperpigmentation of the skin |
HP:0001061 | Acne |
HP:0002315 | Headache |
HP:0004324 | Increased body weight |
HP:0000069 | Abnormality of the ureter |
HP:0000077 | Abnormality of the kidney |
HP:0000759 | Abnormal peripheral nervous system morphology |
HP:0008069 | Neoplasm of the skin |
HP:0011276 | Vascular skin abnormality |
HP:0000705 | Amelogenesis imperfecta |
HP:0001256 | Intellectual disability, mild |
HP:0000325 | Triangular face |
HP:0000160 | Narrow mouth |
HP:0009487 | Ulnar deviation of the hand |
HP:0001249 | Intellectual disability |
HP:0008064 | Ichthyosis |
HP:0000311 | Round face |
HP:0001653 | Mitral regurgitation |
HP:0001771 | Achilles tendon contracture |
HP:0012032 | Lipoma |
HP:0012368 | Flat face |
HP:0030053 | Stiff skin |
HP:0011124 | Abnormality of epidermal morphology |
HP:0011097 | Epileptic spasm |
HP:0000407 | Sensorineural hearing impairment |
HP:0000331 | Short chin |
HP:0000340 | Sloping forehead |
HP:0000486 | Strabismus |
HP:0000713 | Agitation |
HP:0000802 | Impotence |
HP:0001272 | Cerebellar atrophy |
HP:0001276 | Hypertonia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001322 | obsolete Brain very small |
HP:0002061 | Lower limb spasticity |
HP:0002529 | Neuronal loss in central nervous system |
HP:0002540 | Inability to walk |
HP:0005484 | Postnatal microcephaly |
HP:0012850 | Small intestinal dysmotility |
HP:0000504 | Abnormality of vision |
HP:0002118 | Abnormality of the cerebral ventricles |
HP:0002363 | Abnormality of brainstem morphology |
HP:0010651 | Abnormal meningeal morphology |
HP:0100024 | Conspicuously happy disposition |
HP:0002538 | Abnormality of the cerebral cortex |
HP:0000054 | Micropenis |
HP:0000215 | Thick upper lip vermilion |
HP:0000293 | Full cheeks |
HP:0000349 | Widow's peak |
HP:0000444 | Convex nasal ridge |
HP:0000506 | Telecanthus |
HP:0000592 | Blue sclerae |
HP:0000691 | Microdontia |
HP:0000698 | Conical tooth |
HP:0002000 | Short columella |
HP:0002097 | Emphysema |
HP:0002209 | Sparse scalp hair |
HP:0002816 | Genu recurvatum |
HP:0005116 | Arterial tortuosity |
HP:0007957 | Corneal opacity |
HP:0008070 | Sparse hair |
HP:0009623 | Proximal placement of thumb |
HP:0010055 | Broad hallux |
HP:0011318 | Bicoronal synostosis |
HP:0011968 | Feeding difficulties |
HP:0200067 | Recurrent spontaneous abortion |
HP:0011819 | Submucous cleft soft palate |
HP:0000268 | Dolichocephaly |
HP:0003302 | Spondylolisthesis |
HP:0000582 | Upslanted palpebral fissure |
HP:0000952 | Jaundice |
HP:0001298 | Encephalopathy |
HP:0001396 | Cholestasis |
HP:0002059 | Cerebral atrophy |
HP:0002171 | Gliosis |
HP:0002240 | Hepatomegaly |
HP:0002353 | EEG abnormality |
HP:0002446 | Astrocytosis |
HP:0003287 | Abnormality of mitochondrial metabolism |
HP:0011449 | Knee clonus |
HP:0012852 | Hepatic bridging fibrosis |
HP:0100626 | Chronic hepatic failure |
HP:0000385 | Small earlobe |
HP:0009748 | Large earlobe |
HP:0000157 | Abnormality of the tongue |
HP:0000172 | Abnormality of the uvula |
HP:0000174 | Abnormal palate morphology |
HP:0000306 | Abnormality of the chin |
HP:0004408 | Abnormality of the sense of smell |
HP:0009912 | Abnormality of the tragus |
HP:0000537 | Epicanthus inversus |
HP:0000565 | Esotropia |
HP:0000752 | Hyperactivity |
HP:0003186 | Inverted nipples |
HP:0012503 | Abnormality of the pituitary gland |
HP:0100710 | Impulsivity |
HP:0000357 | Abnormal location of ears |
HP:0000820 | Abnormality of the thyroid gland |
HP:0000828 | Abnormality of the parathyroid gland |
HP:0000834 | Abnormality of the adrenal glands |
HP:0012093 | Abnormality of endocrine pancreas physiology |
HP:0000269 | Prominent occiput |
HP:0000535 | Sparse and thin eyebrow |
HP:0000639 | Nystagmus |
HP:0000718 | Aggressive behavior |
HP:0000957 | Cafe-au-lait spot |
HP:0000256 | Macrocephaly |
HP:0000750 | Delayed speech and language development |
HP:0000963 | Thin skin |
HP:0001260 | Dysarthria |
HP:0002194 | Delayed gross motor development |
HP:0003196 | Short nose |
HP:0001155 | Abnormality of the hand |
HP:0100022 | Abnormality of movement |
HP:0010862 | Delayed fine motor development |
HP:0000343 | Long philtrum |
HP:0000717 | Autism |
HP:0001883 | Talipes |
HP:0002553 | Highly arched eyebrow |
HP:0007488 | Diffuse skin atrophy |
HP:0000822 | Hypertension |
HP:0001278 | Orthostatic hypotension |
HP:0001944 | Dehydration |
HP:0001945 | Fever |
HP:0002019 | Constipation |
HP:0002020 | Gastroesophageal reflux |
HP:0002027 | Abdominal pain |
HP:0002718 | Recurrent bacterial infections |
HP:0002841 | Recurrent fungal infections |
HP:0004395 | Malnutrition |
HP:0009830 | Peripheral neuropathy |
HP:0000126 | Hydronephrosis |
HP:0000519 | Developmental cataract |
HP:0000648 | Optic atrophy |
HP:0001053 | Hypopigmented skin patches |
HP:0001087 | Developmental glaucoma |
HP:0002119 | Ventriculomegaly |
HP:0002280 | Enlarged cisterna magna |
HP:0003298 | Spina bifida occulta |
HP:0004467 | Preauricular pit |
HP:0008511 | Central posterior corneal opacity |
HP:0010780 | Hyperacusis |
HP:0030048 | Colpocephaly |
HP:0100335 | Non-midline cleft lip |
HP:0000525 | Abnormality iris morphology |
HP:0002719 | Recurrent infections |
HP:0000153 | Abnormality of the mouth |
HP:0001903 | Anemia |
HP:0002094 | Dyspnea |
HP:0002206 | Pulmonary fibrosis |
HP:0002789 | Tachypnea |
HP:0002793 | Abnormal pattern of respiration |
HP:0003565 | Elevated erythrocyte sedimentation rate |
HP:0006517 | Intraalveolar phospholipid accumulation |
HP:0006530 | Interstitial pulmonary abnormality |
HP:0100759 | Clubbing of fingers |
HP:0002103 | Abnormal pleura morphology |
HP:0001596 | Alopecia |
HP:0001882 | Leukopenia |
HP:0002013 | Vomiting |
HP:0002028 | Chronic diarrhea |
HP:0002573 | Hematochezia |
HP:0002960 | Autoimmunity |
HP:0005387 | Combined immunodeficiency |
HP:0011109 | Chronic sinusitis |
HP:0004429 | Recurrent viral infections |
HP:0000280 | Coarse facial features |
HP:0000294 | Low anterior hairline |
HP:0000577 | Exotropia |
HP:0001873 | Thrombocytopenia |
HP:0002011 | Morphological central nervous system abnormality |
HP:0006610 | Wide intermamillary distance |
HP:0011231 | Prominent eyelashes |
HP:0012718 | Morphological abnormality of the gastrointestinal tract |
HP:0002024 | Malabsorption |
HP:0001394 | Cirrhosis |
HP:0001414 | Microvesicular hepatic steatosis |
HP:0001403 | Macrovesicular hepatic steatosis |
HP:0001410 | Decreased liver function |
HP:0001409 | Portal hypertension |
HP:0001744 | Splenomegaly |
HP:0003394 | Muscle spasm |
HP:0003750 | Increased muscle fatiguability |
HP:0002123 | Generalized myoclonic seizure |
HP:0002219 | Facial hypertrichosis |
HP:0000831 | Insulin-resistant diabetes mellitus |
HP:0001891 | Iron deficiency anemia |
HP:0001264 | Spastic diplegia |
HP:0002313 | Spastic paraparesis |
HP:0001347 | Hyperreflexia |
HP:0002460 | Distal muscle weakness |
HP:0000763 | Sensory neuropathy |
HP:0001268 | Mental deterioration |
HP:0002169 | Clonus |
HP:0001332 | Dystonia |
HP:0100716 | Self-injurious behavior |
HP:0000602 | Ophthalmoplegia |
HP:0001251 | Ataxia |
HP:0000776 | Congenital diaphragmatic hernia |
HP:0000410 | Mixed hearing impairment |
HP:0000510 | Rod-cone dystrophy |
HP:0004437 | Cranial hyperostosis |
HP:0011001 | Increased bone mineral density |
HP:0000956 | Acanthosis nigricans |
HP:0000958 | Dry skin |
HP:0000580 | Pigmentary retinopathy |
HP:0000649 | Abnormality of visual evoked potentials |
HP:0000657 | Oculomotor apraxia |
HP:0000479 | Abnormal retinal morphology |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001533 | Slender build |
HP:0001629 | Ventricular septal defect |
HP:0000703 | Dentinogenesis imperfecta |
HP:0000914 | Shield chest |
HP:0001500 | Broad finger |
HP:0003086 | Acromesomelia |
HP:0003416 | Spinal canal stenosis |
HP:0002815 | Abnormality of the knee |
HP:0002992 | Abnormality of tibia morphology |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0003236 | Elevated serum creatine kinase |
HP:0001369 | Arthritis |
HP:0003560 | Muscular dystrophy |
HP:0003974 | Absent radius |
HP:0002818 | Abnormality of the radius |
HP:0001561 | Polyhydramnios |
HP:0002299 | Brittle hair |
HP:0002208 | Coarse hair |
HP:0002213 | Fine hair |
HP:0000522 | Alacrima |
HP:0100704 | Cerebral visual impairment |
HP:0012713 | Moderate hearing impairment |
HP:0002307 | Drooling |
HP:0002714 | Downturned corners of mouth |
HP:0000191 | Accessory oral frenulum |
HP:0000158 | Macroglossia |
HP:0012020 | Right aortic arch |
HP:0002104 | Apnea |
HP:0000598 | Abnormality of the ear |
HP:0007874 | Almond-shaped palpebral fissure |
HP:0010804 | Tented upper lip vermilion |
HP:0000885 | Broad ribs |
HP:0000768 | Pectus carinatum |
HP:0001680 | Coarctation of aorta |
HP:0000687 | Widely spaced teeth |
HP:0000047 | Hypospadias |
HP:0001943 | Hypoglycemia |
HP:0012369 | Abnormality of malar bones |
HP:0009900 | Unilateral deafness |
HP:0000023 | Inguinal hernia |
HP:0000074 | Ureteropelvic junction obstruction |
HP:0001800 | Hypoplastic toenails |
HP:0001804 | Hypoplastic fingernail |
HP:0002949 | Fused cervical vertebrae |
HP:0008050 | Abnormality of the palpebral fissures |
HP:0008577 | Underfolded helix |
HP:0008589 | Hypoplastic helices |
HP:0010863 | Receptive language delay |
HP:0002282 | Gray matter heterotopia |
HP:0002085 | Occipital encephalocele |
HP:0001057 | Aplasia cutis congenita |
HP:0000211 | Trismus |
HP:0008422 | Vertebral wedging |
HP:0003170 | Abnormality of the acetabulum |
HP:0003272 | Abnormality of the hip bone |
HP:0003028 | Abnormality of the ankles |
HP:0003301 | Irregular vertebral endplates |
HP:0010508 | Metatarsus valgus |
HP:0009811 | Abnormality of the elbow |
HP:0000736 | Short attention span |
HP:0002912 | Methylmalonic acidemia |
HP:0001941 | Acidosis |
HP:0001992 | Organic aciduria |
HP:0009027 | Foot dorsiflexor weakness |
HP:0002063 | Rigidity |
HP:0000384 | Preauricular skin tag |
HP:0200046 | Cat cry |
HP:0001357 | Plagiocephaly |
HP:0000670 | Carious teeth |
HP:0011090 | Fused teeth |
HP:0012810 | Wide nasal base |
HP:0010296 | Ankyloglossia |
HP:0001636 | Tetralogy of Fallot |
HP:0001305 | Dandy-Walker malformation |
HP:0000238 | Hydrocephalus |
HP:0005469 | Flat occiput |
HP:0000270 | Delayed cranial suture closure |
HP:0000239 | Large fontanelles |
HP:0010537 | Wide cranial sutures |
HP:0002217 | Slow-growing hair |
HP:0000587 | Abnormality of the optic nerve |
HP:0005989 | Redundant neck skin |
HP:0010775 | Vascular ring |
HP:0002779 | Tracheomalacia |
HP:0002827 | Hip dislocation |
HP:0001302 | Pachygyria |
HP:0007362 | Aplasia/Hypoplasia of the brainstem |
HP:0001558 | Decreased fetal movement |
HP:0010878 | Fetal cystic hygroma |
HP:0011398 | Central hypotonia |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0000826 | Precocious puberty |
HP:0000014 | Abnormality of the bladder |
HP:0005037 | Proximal radio-ulnar synostosis |
HP:0100543 | Cognitive impairment |
HP:0000481 | Abnormal cornea morphology |
HP:0000076 | Vesicoureteral reflux |
HP:0000297 | Facial hypotonia |
HP:0000391 | Thickened helices |
HP:0001162 | Postaxial hand polydactyly |
HP:0001385 | Hip dysplasia |
HP:0002342 | Intellectual disability, moderate |
HP:0003191 | Cleft ala nasi |
HP:0009765 | Low hanging columella |
HP:0010297 | Bifid tongue |
HP:0011330 | Metopic synostosis |
HP:0012804 | Corneal ulceration |
HP:0010485 | Hyperextensibility at elbow |
HP:0000609 | Optic nerve hypoplasia |
HP:0001176 | Large hands |
HP:0004233 | Advanced ossification of carpal bones |
HP:0100842 | Septo-optic dysplasia |
HP:0002034 | Abnormality of the rectum |
HP:0002283 | Global brain atrophy |
HP:0003115 | Abnormal EKG |
HP:0002577 | Abnormal stomach morphology |
HP:0002539 | Cortical dysplasia |
HP:0006818 | 4-layered lissencephaly |
HP:0000593 | Abnormal anterior chamber morphology |
HP:0000179 | Thick lower lip vermilion |
HP:0002002 | Deep philtrum |
HP:0009931 | Enlarged naris |
HP:0002948 | Vertebral fusion |
HP:0002937 | Hemivertebrae |
HP:0002308 | Arnold-Chiari malformation |
HP:0011320 | Unilambdoid synostosis |
HP:0002781 | Upper airway obstruction |
HP:0001363 | Craniosynostosis |
HP:0000204 | Cleft upper lip |
HP:0001738 | Exocrine pancreatic insufficiency |
HP:0002823 | Abnormality of femur morphology |
HP:0000823 | Delayed puberty |
HP:0100279 | Ulcerative colitis |
HP:0003834 | Shoulder dislocation |
HP:0001065 | Striae distensae |
HP:0000448 | Prominent nose |
HP:0000554 | Uveitis |
HP:0001006 | obsolete Hypotrichosis |
HP:0000501 | Glaucoma |
HP:0000262 | Turricephaly |
HP:0000729 | Autistic behavior |
HP:0010800 | Absent cupid's bow |
HP:0010808 | Protruding tongue |
HP:0009927 | Aplasia of the nose |
HP:0100539 | Periorbital edema |
HP:0000629 | Periorbital fullness |
HP:0000178 | Abnormality of lower lip |
HP:0000168 | Abnormality of the gingiva |
HP:0001022 | Albinism |
HP:0000177 | Abnormality of upper lip |
HP:0001337 | Tremor |
HP:0002135 | Basal ganglia calcification |
HP:0002352 | Leukoencephalopathy |
HP:0002514 | Cerebral calcification |
HP:0010576 | Intracranial cystic lesion |
HP:0001622 | Premature birth |
HP:0002415 | Leukodystrophy |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001773 | Short foot |
HP:0002750 | Delayed skeletal maturation |
HP:0004415 | Pulmonary artery stenosis |
HP:0012741 | Unilateral cryptorchidism |
HP:0000036 | Abnormality of the penis |
HP:0002408 | Cerebral arteriovenous malformation |
HP:0007457 | Prominent veins on trunk |
HP:0000378 | Cupped ear |
HP:0000396 | Overfolded helix |
HP:0000035 | Abnormal testis morphology |
HP:0009895 | Abnormality of the crus of the helix |
HP:0000034 | Hydrocele testis |
HP:0000722 | Obsessive-compulsive behavior |
HP:0000845 | Growth hormone excess |
HP:0100829 | Galactorrhea |
HP:0001578 | Increased circulating cortisol level |
HP:0000786 | Primary amenorrhea |
HP:0001701 | Pericarditis |
HP:0002076 | Migraine |
HP:0004755 | Supraventricular tachycardia |
HP:0010522 | Dyslexia |
HP:0004313 | Decreased circulating antibody level |
HP:0000011 | Neurogenic bladder |
HP:0000641 | Dysmetric saccades |
HP:0007772 | Impaired smooth pursuit |
HP:0001583 | Rotary nystagmus |
HP:0010544 | Vertical nystagmus |
HP:0012735 | Cough |
HP:0002075 | Dysdiadochokinesis |
HP:0007256 | Abnormal pyramidal sign |
HP:0001257 | Spasticity |
HP:0002321 | Vertigo |
HP:0002384 | Focal impaired awareness seizure |
HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
HP:0002326 | Transient ischemic attack |
HP:0005584 | Renal cell carcinoma |
HP:0003124 | Hypercholesterolemia |
HP:0003002 | Breast carcinoma |
HP:0004953 | obsolete Dilatation of abdominal aorta |
HP:0004944 | Dilatation of the cerebral artery |
HP:0000100 | Nephrotic syndrome |
HP:0002783 | Recurrent lower respiratory tract infections |
HP:0003470 | Paralysis |
HP:0006597 | Diaphragmatic paralysis |
HP:0008151 | Prolonged prothrombin time |
HP:0010628 | Facial palsy |
HP:0011892 | Low levels of vitamin K |
HP:0001075 | Atrophic scars |
HP:0001816 | Thin nail |
HP:0002216 | Premature graying of hair |
HP:0003401 | Paresthesia |
HP:0100134 | Abnormality of the axillary hair |
HP:0100797 | Toenail dysplasia |
HP:0010461 | Abnormality of the male genitalia |
HP:0000044 | Hypogonadotropic hypogonadism |
HP:0100568 | Neoplasm of the endocrine system |
HP:0001646 | Abnormal aortic valve morphology |
HP:0000813 | Bicornuate uterus |
HP:0004380 | Aortic valve calcification |
HP:0001650 | Aortic valve stenosis |
HP:0000073 | Ureteral duplication |
HP:0100651 | Type I diabetes mellitus |
HP:0000819 | Diabetes mellitus |
HP:0000573 | Retinal hemorrhage |
HP:0005264 | Abnormality of the gallbladder |
HP:0000475 | Broad neck |
HP:0000089 | Renal hypoplasia |
HP:0000921 | Missing ribs |
HP:0001789 | Hydrops fetalis |
HP:0002089 | Pulmonary hypoplasia |
HP:0003422 | Vertebral segmentation defect |
HP:0002323 | Anencephaly |
HP:0000341 | Narrow forehead |
HP:0002869 | Flared iliac wings |
HP:0003100 | Slender long bone |
HP:0003275 | Narrow pelvis bone |
HP:0009891 | Underdeveloped supraorbital ridges |
HP:0011039 | Abnormality of the helix |
HP:0008572 | External ear malformation |
HP:0009738 | Abnormality of the antihelix |
HP:0011328 | Abnormality of fontanelles |
HP:0012155 | Decreased corneal sensation |
HP:0004602 | Cervical C2/C3 vertebral fusion |
HP:0002997 | Abnormality of the ulna |
HP:0009777 | Absent thumb |
HP:0002893 | Pituitary adenoma |
HP:0040278 | Prolactinoma |
HP:0001555 | Asymmetry of the thorax |
HP:0000902 | Rib fusion |
HP:0002164 | Nail dysplasia |
HP:0011314 | Abnormality of long bone morphology |
HP:0002867 | Abnormality of the ilium |
HP:0000774 | Narrow chest |
HP:0006482 | Abnormality of dental morphology |
HP:0004383 | Hypoplastic left heart |
HP:0002015 | Dysphagia |
HP:0500093 | Food allergy |
HP:0001519 | Disproportionate tall stature |
HP:0003179 | Protrusio acetabuli |
HP:0007385 | Aplasia cutis congenita of scalp |
HP:0000716 | Depressivity |
HP:0012583 | Unilateral renal hypoplasia |
HP:0000618 | Blindness |
HP:0001004 | Lymphedema |
HP:0002652 | Skeletal dysplasia |
HP:0012520 | Perivascular spaces |
HP:0005293 | Venous insufficiency |
HP:0012432 | Chronic fatigue |
HP:0002578 | Gastroparesis |
HP:0001658 | Myocardial infarction |
HP:0001802 | Absent toenail |
HP:0001821 | Broad nail |
HP:0000807 | Glandular hypospadias |
HP:0100582 | Nasal polyposis |
HP:0002653 | Bone pain |
HP:0001073 | Cigarette-paper scars |
HP:0031913 | Rhombencephalosynapsis |
HP:0002617 | Dilatation |
HP:0005107 | Abnormal sacrum morphology |
HP:0002025 | Anal stenosis |
HP:0009099 | Median cleft palate |
HP:0003212 | Increased circulating IgE level |
HP:0001319 | Neonatal hypotonia |
HP:0002659 | Increased susceptibility to fractures |
HP:0025246 | Trichilemmal cyst |
HP:0002107 | Pneumothorax |
HP:0000107 | Renal cyst |
HP:0001025 | Urticaria |
HP:0002204 | Pulmonary embolism |
HP:0001058 | Poor wound healing |
HP:0003010 | Prolonged bleeding time |
HP:0100502 | Vitamin B12 deficiency |
HP:0100510 | Low levels of vitamin C |
HP:0030976 | Abnormal factor VIII activity |
HP:0100789 | Torus palatinus |
HP:0000108 | Renal corticomedullary cysts |
HP:0000072 | Hydroureter |
HP:0000019 | Urinary hesitancy |
HP:0100771 | Hypoperistalsis |
HP:0000021 | Megacystis |
HP:0004388 | Microcolon |
HP:0005247 | Hypoplasia of the abdominal wall musculature |
HP:0004794 | Malrotation of small bowel |
HP:0000045 | Abnormality of the scrotum |
HP:0002236 | Frontal upsweep of hair |
HP:0000212 | Gingival overgrowth |
HP:0001808 | Fragile nails |
HP:0000225 | Gingival bleeding |
HP:0006009 | Broad phalanx |
HP:0001837 | Broad toe |
HP:0001946 | Ketosis |
HP:0002490 | Increased CSF lactate |
HP:0002922 | Increased CSF protein |
HP:0003128 | Lactic acidosis |
HP:0003111 | Abnormal blood ion concentration |
HP:0032234 | Increased circulating creatine kinase MM isoform |
HP:0003348 | Hyperalaninemia |
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0000326 | Abnormality of the maxilla |
HP:0010758 | Abnormality of the premaxilla |
HP:0005681 | Juvenile rheumatoid arthritis |
HP:0000514 | Slow saccadic eye movements |
HP:0002788 | Recurrent upper respiratory tract infections |
HP:0003396 | Syringomyelia |
HP:0003011 | Abnormality of the musculature |
HP:0002098 | Respiratory distress |
HP:0002018 | Nausea |
HP:0002014 | Diarrhea |
HP:0025168 | Left ventricular diastolic dysfunction |
HP:0001679 | Abnormal aortic morphology |
HP:0000159 | Abnormal lip morphology |
HP:0011338 | Abnormality of mouth shape |
HP:0000478 | Abnormality of the eye |
HP:0000154 | Wide mouth |
HP:0001513 | Obesity |
HP:0002475 | Myelomeningocele |
HP:0003765 | Psoriasiform dermatitis |
HP:0010289 | Cleft of alveolar ridge of maxilla |
HP:0003908 | Corner fracture of metaphysis |
HP:0002190 | Choroid plexus cyst |
HP:0004370 | Abnormality of temperature regulation |
HP:0011611 | Interrupted aortic arch |
HP:0000737 | Irritability |
HP:0001344 | Absent speech |
HP:0002376 | Developmental regression |
HP:0002140 | Ischemic stroke |
HP:0001287 | Meningitis |
HP:0002721 | Immunodeficiency |
HP:0000041 | Chordee |
HP:0012854 | Midshaft hypospadias |
HP:0000808 | Penoscrotal hypospadias |
HP:0000048 | Bifid scrotum |
HP:0001047 | Atopic dermatitis |
HP:0001621 | Weak voice |
HP:0002372 | Normal interictal EEG |
HP:0012803 | Anisometropia |
HP:0011386 | Narrow internal auditory canal |
HP:0012714 | Severe hearing impairment |
HP:0006485 | Agenesis of incisor |
HP:0000787 | Nephrolithiasis |
HP:0011332 | Hemifacial hypoplasia |
HP:0001909 | Leukemia |
HP:0004808 | Acute myeloid leukemia |
HP:0006495 | Aplasia/Hypoplasia of the ulna |
HP:0001180 | Hand oligodactyly |
HP:0002991 | Abnormality of fibula morphology |
HP:0001849 | Foot oligodactyly |
HP:0006507 | Aplasia/hypoplasia of the humerus |
HP:0005613 | Aplasia/hypoplasia of the femur |
HP:0006492 | Aplasia/Hypoplasia of the fibula |
HP:0000098 | Tall stature |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0005752 | Flattened moderately deformed vertebrae |
HP:0030039 | Fused thoracic vertebrae |
HP:0003304 | Spondylolysis |
HP:0001659 | Aortic regurgitation |
HP:0002984 | Hypoplasia of the radius |
HP:0009944 | Partial duplication of thumb phalanx |
HP:0005819 | Short middle phalanx of finger |
HP:0002110 | Bronchiectasis |
HP:0001677 | Coronary artery atherosclerosis |
HP:0001737 | Pancreatic cysts |
HP:0005113 | Aortic arch aneurysm |
HP:0003022 | Hypoplasia of the ulna |
HP:0002205 | Recurrent respiratory infections |
HP:0001669 | Transposition of the great arteries |
HP:0001716 | Wolff-Parkinson-White syndrome |
HP:0002758 | Osteoarthritis |
HP:0002037 | Inflammation of the large intestine |
HP:0009892 | Anotia |
HP:0011331 | Hemifacial atrophy |
HP:0009118 | Aplasia/Hypoplasia of the mandible |
HP:0009940 | Asymmetry of the mandible |
HP:0000682 | Abnormality of dental enamel |
HP:0009908 | Anterior creases of earlobe |
HP:0001541 | Ascites |
HP:0006687 | Aortic tortuosity |
HP:0010535 | Sleep apnea |
HP:0100633 | Esophagitis |
HP:0002105 | Hemoptysis |
HP:0002613 | Biliary cirrhosis |
HP:0004469 | Chronic bronchitis |
HP:0002720 | Decreased circulating IgA level |
HP:0002904 | Hyperbilirubinemia |
HP:0003237 | Increased circulating IgG level |
HP:0003262 | Smooth muscle antibody positivity |
HP:0011227 | Elevated C-reactive protein level |
HP:0001852 | Sandal gap |
HP:0004381 | Supravalvular aortic stenosis |
HP:0100700 | Abnormal arachnoid mater morphology |
HP:0002624 | Abnormal venous morphology |
HP:0002289 | Alopecia universalis |
HP:0009588 | Vestibular Schwannoma |
HP:0001648 | Cor pulmonale |
HP:0002091 | Restrictive ventilatory defect |
HP:0002092 | Pulmonary arterial hypertension |
HP:0002113 | Pulmonary infiltrates |
HP:0003138 | Increased blood urea nitrogen |
HP:0003259 | Elevated serum creatinine |
HP:0005180 | Tricuspid regurgitation |
HP:0012585 | Renal atrophy |
HP:0005133 | Right ventricular dilatation |
HP:0005575 | Hemolytic-uremic syndrome |
HP:0001697 | Abnormal pericardium morphology |
HP:0012486 | Myelitis |
HP:0002385 | Paraparesis |
HP:0006706 | Cystic liver disease |
HP:0010880 | Increased nuchal translucency |
HP:0000457 | Depressed nasal ridge |
HP:0002263 | Exaggerated cupid's bow |
HP:0002500 | Abnormality of the cerebral white matter |
HP:0002835 | Aspiration |
HP:0000600 | Abnormality of the pharynx |
HP:0004327 | Abnormal vitreous humor morphology |
HP:0004378 | Abnormality of the anus |
HP:0012374 | obsolete Abnormal globe morphology |
HP:0100768 | Choriocarcinoma |
HP:0030991 | Sclerosing cholangitis |
HP:0006510 | Chronic pulmonary obstruction |
HP:0000710 | Hyperorality |
HP:0001270 | Motor delay |
HP:0001548 | Overgrowth |
HP:0002311 | Incoordination |
HP:0006288 | Advanced eruption of teeth |
HP:0006323 | Premature loss of primary teeth |
HP:0009890 | High anterior hairline |
HP:0100034 | Motor tics |
HP:0100035 | Phonic tics |
HP:0000348 | High forehead |
HP:0001520 | Large for gestational age |
HP:0001239 | Wrist flexion contracture |
HP:0007359 | Focal-onset seizure |
HP:0000430 | Underdeveloped nasal alae |
HP:0007400 | Irregular hyperpigmentation |
HP:0100495 | Mastocytosis |
HP:0012378 | Fatigue |
HP:0002046 | Heat intolerance |
HP:0003270 | Abdominal distention |
HP:0002180 | Neurodegeneration |
HP:0003493 | Antinuclear antibody positivity |
HP:0030057 | Autoimmune antibody positivity |
HP:0006802 | Abnormal anterior horn cell morphology |
HP:0000064 | Hypoplastic labia minora |
HP:0000338 | Hypomimic face |
HP:0001642 | Pulmonic stenosis |
HP:0011344 | Severe global developmental delay |
HP:0200007 | Abnormal size of the palpebral fissures |
HP:0004464 | Postauricular pit |
HP:0000130 | Abnormality of the uterus |
HP:0000137 | Abnormality of the ovary |
HP:0000142 | Abnormal vagina morphology |
HP:0000370 | Abnormality of the middle ear |
HP:0011787 | Central hypothyroidism |
HP:0000274 | Small face |
HP:0000446 | Narrow nasal bridge |
HP:0000622 | Blurred vision |
HP:0001245 | Small thenar eminence |
HP:0009601 | Aplasia/Hypoplasia of the thumb |
HP:0011343 | Moderate global developmental delay |
HP:0000419 | Abnormality of the nasal septum |
HP:0000502 | Abnormal conjunctiva morphology |
HP:0000591 | Abnormal sclera morphology |
HP:0000615 | Abnormal pupil morphology |
HP:0001163 | Abnormality of the metacarpal bones |
HP:0001832 | Abnormal metatarsal morphology |
HP:0001850 | Abnormality of the tarsal bones |
HP:0010490 | Abnormality of the palmar creases |
HP:0010881 | Abnormality of the umbilical cord |
HP:0009113 | Diaphragmatic weakness |
HP:0011664 | Left ventricular noncompaction cardiomyopathy |
HP:0100240 | Synostosis of joints |
HP:0001838 | Rocker bottom foot |
HP:0003717 | Minimal subcutaneous fat |
HP:0001339 | Lissencephaly |
HP:0001591 | Bell-shaped thorax |
HP:0002655 | Spondyloepiphyseal dysplasia |
HP:0002983 | Micromelia |
HP:0003016 | Metaphyseal widening |
HP:0009826 | Limb undergrowth |
HP:0004488 | Macrocephaly at birth |
HP:0001695 | Cardiac arrest |
HP:0001712 | Left ventricular hypertrophy |
HP:0100775 | Dural ectasia |
HP:0000846 | Adrenal insufficiency |
HP:0002925 | Increased thyroid-stimulating hormone level |
HP:0100646 | Thyroiditis |
HP:0000836 | Hyperthyroidism |
HP:0004414 | Abnormality of the pulmonary artery |
HP:0000465 | Webbed neck |
HP:0000723 | Restrictive behavior |
HP:0002253 | Colonic diverticula |
HP:0001310 | Dysmetria |
HP:0000093 | Proteinuria |
HP:0002907 | Microscopic hematuria |
HP:0003073 | Hypoalbuminemia |
HP:0004315 | Decreased circulating IgG level |
HP:0000795 | Abnormality of the urethra |
HP:0001015 | Prominent superficial veins |
HP:0004691 | 2-3 toe syndactyly |
HP:0005328 | Progeroid facial appearance |
HP:0005487 | Prominent metopic ridge |
HP:0007552 | Abnormal subcutaneous fat tissue distribution |
HP:0100678 | Premature skin wrinkling |
HP:0031137 | Storage in hepatocytes |
HP:0002521 | Hypsarrhythmia |
HP:0005390 | Recurrent opportunistic infections |
HP:0002716 | Lymphadenopathy |
HP:0005379 | obsolete Severe T lymphocytopenia |
HP:0004432 | Agammaglobulinemia |
HP:0006695 | Atrioventricular canal defect |
HP:0001733 | Pancreatitis |
HP:0002350 | Cerebellar cyst |
HP:0012110 | Hypoplasia of the pons |
HP:0001948 | Alkalosis |
HP:0003113 | Hypochloremia |
HP:0003155 | Elevated alkaline phosphatase |
HP:0003542 | Increased serum pyruvate |
HP:0000421 | Epistaxis |
HP:0200136 | Oral-pharyngeal dysphagia |
HP:0000805 | Enuresis |
HP:0005616 | Accelerated skeletal maturation |
HP:0002459 | obsolete Dysautonomia |
HP:0007302 | Bipolar affective disorder |
HP:0100602 | Preeclampsia |
HP:0100508 | Abnormality of vitamin metabolism |
HP:0001140 | Limbal dermoid |
HP:0000143 | Rectovaginal fistula |
HP:0001746 | Asplenia |
HP:0012715 | Profound hearing impairment |
HP:0001748 | Polysplenia |
HP:0003072 | Hypercalcemia |
HP:0002905 | Hyperphosphatemia |
HP:0002901 | Hypocalcemia |
HP:0001367 | Abnormal joint morphology |
HP:0010562 | Keloids |
HP:0004430 | Severe combined immunodeficiency |
HP:0000003 | Multicystic kidney dysplasia |
HP:0010980 | Hyperlipoproteinemia |
HP:0002155 | Hypertriglyceridemia |
HP:0000520 | Proptosis |
HP:0000180 | Lobulated tongue |
HP:0005486 | Small fontanelle |
HP:0000891 | Cervical ribs |
HP:0002557 | Hypoplastic nipples |
HP:0009112 | Aplasia of the left hemidiaphragm |
HP:0001719 | Double outlet right ventricle |
HP:0001682 | Subvalvular aortic stenosis |
HP:0001667 | Right ventricular hypertrophy |
HP:0002101 | Abnormal lung lobation |
HP:0002202 | Pleural effusion |
HP:0002566 | Intestinal malrotation |
HP:0004510 | Pancreatic islet-cell hyperplasia |
HP:0001747 | Accessory spleen |
HP:0002181 | Cerebral edema |
HP:0000967 | Petechiae |
HP:0009702 | Carpal synostosis |
HP:0000927 | Abnormality of skeletal maturation |
HP:0004348 | Abnormality of bone mineral density |
HP:0003019 | Abnormality of the wrist |
HP:0003063 | Abnormality of the humerus |
HP:0001059 | Pterygium |
HP:0001528 | Hemihypertrophy |
HP:0011228 | Horizontal eyebrow |
HP:0000766 | Abnormality of the sternum |
HP:0001254 | Lethargy |
HP:0002360 | Sleep disturbance |
HP:0001063 | Acrocyanosis |
HP:0001769 | Broad foot |
HP:0010280 | Stomatitis |
HP:0001288 | Gait disturbance |
HP:0008330 | Reduced von Willebrand factor activity |
HP:0001954 | Recurrent fever |
HP:0004311 | Abnormal macrophage morphology |
HP:0012539 | Non-Hodgkin lymphoma |
HP:0002074 | Increased neuronal autofluorescent lipopigment |
HP:0002973 | Abnormality of the forearm |
HP:0003203 | Impaired oxidative burst |
HP:0003027 | Mesomelia |
HP:0002754 | Osteomyelitis |
HP:0004431 | Complement deficiency |
HP:0001258 | Spastic paraplegia |
HP:0012811 | Wide nasal ridge |
HP:0011832 | Narrow nasal tip |
HP:0000288 | Abnormality of the philtrum |
HP:0002357 | Dysphasia |
HP:0000871 | Panhypopituitarism |
HP:0000233 | Thin vermilion border |
HP:0003281 | Increased serum ferritin |
HP:0010752 | Cleft mandible |
HP:0000437 | Depressed nasal tip |
HP:0000453 | Choanal atresia |
HP:0000863 | Central diabetes insipidus |
HP:0000058 | Abnormality of the labia |
HP:0007418 | Alopecia totalis |
HP:0100765 | Abnormality of the tonsils |
HP:0100747 | Macrodactyly of toe |
HP:0002109 | obsolete Abnormality of the bronchi |
HP:0011950 | Bronchiolitis |
HP:0002850 | Decreased circulating total IgM |
HP:0001395 | Hepatic fibrosis |
HP:0010701 | Abnormal immunoglobulin level |
HP:0009928 | Thick nasal alae |
HP:0010807 | Open bite |
HP:0002126 | Polymicrogyria |
HP:0002900 | Hypokalemia |
HP:0000155 | Oral ulcer |
HP:0000135 | Hypogonadism |
HP:0100783 | Breast aplasia |
HP:0000336 | Prominent supraorbital ridges |
HP:0010557 | Overlapping fingers |
HP:0005100 | Premature birth following premature rupture of fetal membranes |
HP:0002594 | Pancreatic hypoplasia |
HP:0010109 | Short hallux |
HP:0002334 | Abnormality of the cerebellar vermis |
HP:0003326 | Myalgia |
HP:0001645 | Sudden cardiac death |
HP:0001612 | Weak cry |
HP:0001618 | Dysphonia |
HP:0001336 | Myoclonus |
HP:0001283 | Bulbar palsy |
HP:0002080 | Intention tremor |
HP:0002174 | Postural tremor |
HP:0002064 | Spastic gait |
HP:0009800 | Maternal diabetes |
HP:0001662 | Bradycardia |
HP:0006595 | Scapulohumeral synostosis |
HP:0005815 | Supernumerary ribs |
HP:0000307 | Pointed chin |
HP:0012371 | Hyperplasia of midface |
HP:0002643 | Neonatal respiratory distress |
HP:0002093 | Respiratory insufficiency |
HP:0010310 | Chylothorax |
HP:0006376 | Limited elbow flexion |
HP:0006467 | Limited shoulder movement |
HP:0010505 | Limitation of movement at ankles |
HP:0010501 | Limitation of knee mobility |
HP:0009896 | Abnormality of the antitragus |
HP:0004404 | Abnormal nipple morphology |
HP:0011957 | Abnormal pectoral muscle morphology |
HP:0000777 | Abnormality of the thymus |
HP:0000418 | Narrow nasal ridge |
HP:0001572 | Macrodontia |
HP:0002967 | Cubitus valgus |
HP:0000988 | Skin rash |
HP:0009733 | Glioma |
HP:0012452 | Restless legs |
HP:0100031 | Neoplasm of the thyroid gland |
HP:0030127 | Endometriosis |
HP:0000123 | Nephritis |
HP:0001974 | Leukocytosis |
HP:0010976 | B lymphocytopenia |
HP:0000010 | Recurrent urinary tract infections |
HP:0100807 | Long fingers |
HP:0000653 | Sparse eyelashes |
HP:0000171 | Microglossia |
HP:0002575 | Tracheoesophageal fistula |
HP:0009933 | Narrow naris |
HP:0000883 | Thin ribs |
HP:0000121 | Nephrocalcinosis |
HP:0001349 | Facial diplegia |
HP:0012037 | Pectoralis amyotrophy |
HP:0100560 | Upper limb asymmetry |
HP:0005684 | Distal arthrogryposis |
HP:0010722 | Asymmetry of the ears |
HP:0009380 | Aplasia of the fingers |
HP:0001657 | Prolonged QT interval |
HP:0002040 | Esophageal varix |
HP:0000613 | Photophobia |
HP:0000561 | Absent eyelashes |
HP:0002223 | Absent eyebrow |
HP:0002591 | Polyphagia |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002419 | Molar tooth sign on MRI |
HP:0001010 | Hypopigmentation of the skin |
HP:0005772 | Aplasia/Hypoplasia of the tibia |
HP:0002211 | White forelock |
HP:0007126 | Proximal amyotrophy |
HP:0003798 | Nemaline bodies |
HP:0006533 | Bronchodysplasia |
HP:0003391 | Gowers sign |
HP:0000771 | Gynecomastia |
HP:0100785 | Insomnia |
HP:0010529 | Echolalia |
HP:0000363 | Abnormality of earlobe |
HP:0002612 | Congenital hepatic fibrosis |
HP:0006721 | Acute lymphoblastic leukemia |
HP:0001958 | Nonketotic hypoglycemia |
HP:0003457 | EMG abnormality |
HP:0010636 | Schizencephaly |
HP:0005266 | Intestinal polyp |
HP:0200063 | Colorectal polyposis |
HP:0001762 | Talipes equinovarus |
HP:0000056 | Abnormality of the clitoris |
HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
HP:0002072 | Chorea |
HP:0008734 | Decreased testicular size |
HP:0002136 | Broad-based gait |
HP:0010958 | Bilateral renal agenesis |
HP:0002510 | Spastic tetraplegia |
HP:0003234 | Decreased plasma carnitine |
HP:0000720 | Mood swings |
HP:0012638 | Abnormal nervous system physiology |
HP:0002803 | Congenital contracture |
HP:0000152 | Abnormality of head or neck |
HP:0004377 | Hematological neoplasm |
HP:0100006 | Neoplasm of the central nervous system |
HP:0012759 | Neurodevelopmental abnormality |
HP:0011805 | Abnormal skeletal muscle morphology |
HP:0003634 | Amyoplasia |
HP:0001507 | Growth abnormality |
HP:0001939 | Abnormality of metabolism/homeostasis |
HP:0011013 | Abnormal circulating carbohydrate concentration |
HP:0410008 | Abnormality of the peripheral nervous system |
HP:0200134 | Epileptic encephalopathy |
HP:0001881 | Abnormal leukocyte morphology |
HP:0005549 | obsolete Congenital neutropenia |
HP:0004439 | Craniofacial dysostosis |
HP:0012443 | Abnormality of brain morphology |
HP:0000202 | Oral cleft |
HP:0011842 | Abnormality of skeletal morphology |
HP:0003808 | Abnormal muscle tone |
HP:0001574 | Abnormality of the integument |
HP:0030056 | Uncombable hair |
HP:0003549 | Abnormality of connective tissue |
HP:0030875 | Abnormality of pulmonary circulation |
HP:0000118 | Phenotypic abnormality |
HP:0012469 | Infantile spasms |
HP:0032894 | Seizure precipitated by febrile infection |
HP:0100661 | Trigeminal neuralgia |
HP:0012207 | Reduced sperm motility |
HP:0000798 | Oligospermia |
HP:0012864 | Abnormal sperm morphology |
HP:0008232 | Elevated circulating follicle stimulating hormone level |
HP:0040306 | Decreased male libido |
HP:0012208 | Immotile sperm |
HP:0000027 | Azoospermia |
HP:0000870 | Increased circulating prolactin concentration |
HP:0008187 | Absence of secondary sex characteristics |
HP:0010469 | Absent testis |
HP:0011969 | Elevated circulating luteinizing hormone level |
HP:0040171 | Decreased serum testosterone level |
HP:0003251 | Male infertility |
HP:0009804 | Reduced number of teeth |
HP:0000548 | Cone/cone-rod dystrophy |
HP:0000546 | Retinal degeneration |
HP:0008002 | Abnormality of macular pigmentation |
HP:0000608 | Macular degeneration |
HP:0030611 | Retinal pigment epithelial loss on macular OCT |
HP:0001135 | Chorioretinal dystrophy |
HP:0030468 | Abnormal multifocal electroretinogram |
HP:00030532 | Visual acuity test abnormality |
HP:0007401 | Macular atrophy |
HP:0030466 | Abnormal full-field electroretinogram |
HP:007737 | Bone spicule pigmentation of the retina |
HP:0011342 | Mild global developmental delay |
HP:0030610 | Photoreceptor outer segment loss on macular OCT |
HP:0007722 | Retinal pigment epithelial atrophy |
HP:0030493 | Abnormality of foveal pigmentation |
HP:0007843 | Attenuation of retinal blood vessels |
HP:0007754 | Macular dystrophy |
HP:0011509 | Macular hyperpigmentation |
HP:0008527 | Congenital sensorineural hearing impairment |
HP:0200070 | Peripheral retinal atrophy |
HP:0007793 | Granular macular appearance |
HP:0007987 | Progressive visual field defects |
HP:0100817 | Renovascular hypertension |
HP:0007868 | obsolete Age-related macular degeneration |
HP:0030527 | Very severe constriction of peripheral visual field |
HP:0030551 | Visual acuity light perception with projection |
HP:0011505 | Cystoid macular edema |
HP:0010442 | Polydactyly |
HP:0007642 | Congenital stationary night blindness |
HP:0009073 | Progressive proximal muscle weakness |
HP:0003741 | Congenital muscular dystrophy |
HP:0100299 | Muscle fiber inclusion bodies |
HP:0003540 | Impaired platelet aggregation |
HP:0010489 | Absent palmar crease |
HP:0009824 | Upper limb undergrowth |
HP:0002395 | Lower limb hyperreflexia |
HP:0001138 | Optic neuropathy |
HP:0007103 | Hypointensity of cerebral white matter on MRI |
HP:0003458 | EMG: myopathic abnormalities |
HP:0002987 | Elbow flexion contracture |
HP:0006466 | Ankle flexion contracture |
HP:0008458 | Progressive congenital scoliosis |
HP:0000473 | Torticollis |
HP:0011800 | Midface retrusion |
HP:0000597 | Ophthalmoparesis |
HP:0005853 | Congenital foot contraction deformities |
HP:0007002 | Motor axonal neuropathy |
HP:0003327 | Axial muscle weakness |
HP:0003306 | Spinal rigidity |
HP:0002068 | Neuromuscular dysphagia |
HP:0001002 | obsolete Decreased subcutaneous fat |
HP:0002880 | obsolete Respiratory difficulties |
HP:0006829 | Severe muscular hypotonia |
HP:0011448 | Ankle clonus |
HP:0003487 | Babinski sign |
HP:0002378 | Hand tremor |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0002579 | Gastrointestinal dysmotility |
HP:0001041 | Facial erythema |
HP:0040180 | Hyperkeratosis pilaris |
HP:0001382 | Joint hypermobility |
HP:0003722 | Neck flexor weakness |
HP:0003323 | Progressive muscle weakness |
HP:0002380 | Fasciculations |
HP:0012785 | Flexion contracture of finger |
HP:0007936 | Restrictive external ophthalmoplegia |
HP:0030319 | Weakness of facial musculature |
HP:0008936 | Muscular hypotonia of the trunk |
HP:0030230 | Central core regions in muscle fibers |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0001290 | Generalized hypotonia |
HP:0002421 | Poor head control |
HP:0010301 | Spinal dysraphism |
HP:0004303 | Abnormal muscle fiber morphology |
HP:0009046 | Difficulty running |
HP:0003715 | Myofibrillar myopathy |
HP:0000467 | Neck muscle weakness |
HP:0001999 | Abnormal facial shape |
HP:0002751 | Kyphoscoliosis |
HP:0030223 | Perseveration |
HP:0002344 | Progressive neurologic deterioration |
HP:0002522 | Areflexia of lower limbs |
HP:0003805 | Rimmed vacuoles |
HP:0005781 | Contractures of the large joints |
HP:0040083 | Toe walking |
HP:0003749 | Pelvic girdle muscle weakness |
HP:0012444 | Brain atrophy |
HP:0003738 | Exercise-induced myalgia |
HP:0003756 | Skeletal myopathy |
HP:0002492 | Morphological abnormality of the corticospinal tract |
HP:0100302 | Muscle fiber tubuloreticular inclusions |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0003473 | Fatigable weakness |
HP:0002077 | Migraine with aura |
HP:0100559 | Lower limb asymmetry |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0011623 | Muscular ventricular septal defect |
HP:0002191 | Progressive spasticity |
HP:0003390 | Sensory axonal neuropathy |
HP:0006986 | Upper limb spasticity |
HP:0002464 | Spastic dysarthria |
HP:0001308 | Tongue fasciculations |
HP:0007010 | Poor fine motor coordination |
HP:0003737 | Mitochondrial myopathy |
HP:0008012 | obsolete Congenital myopia |
HP:0008872 | Feeding difficulties in infancy |
HP:0005750 | Contractures of the joints of the lower limbs |
HP:0009067 | Progressive spinal muscular atrophy |
HP:0001623 | Breech presentation |
HP:0001374 | Congenital hip dislocation |
HP:0002359 | Frequent falls |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0011410 | Caesarian section |
HP:0008947 | Infantile muscular hypotonia |
HP:0100501 | Recurrent bronchiolitis |
HP:0003789 | Minicore myopathy |
HP:0000544 | External ophthalmoplegia |
HP:0001605 | Vocal cord paralysis |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0012507 | Weakness of orbicularis oculi muscle |
HP:0009816 | Lower limb undergrowth |
HP:0008935 | Generalized neonatal hypotonia |
HP:0003484 | Upper limb muscle weakness |
HP:0008331 | Elevated creatine kinase after exercise |
HP:0001315 | Reduced tendon reflexes |
HP:0012473 | Tongue atrophy |
HP:0003273 | Hip contracture |
HP:0006380 | Knee flexion contracture |
HP:0003752 | Episodic flaccid weakness |
HP:0100298 | Motheaten muscle fibers |
HP:0003693 | Distal amyotrophy |
HP:0002167 | Neurological speech impairment |
HP:0003388 | Easy fatigability |
HP:0001348 | Brisk reflexes |
HP:0003445 | EMG: neuropathic changes |
HP:0009063 | Progressive distal muscle weakness |
HP:0003720 | Generalized muscle hypertrophy |
HP:0002493 | Upper motor neuron dysfunction |
HP:0012448 | Delayed myelination |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0006879 | Pontocerebellar atrophy |
HP:0200101 | Decreased/absent ankle reflexes |
HP:0009020 | Exercise-induced muscle fatigue |
HP:0002067 | Bradykinesia |
HP:0012751 | Abnormal basal ganglia MRI signal intensity |
HP:0003355 | Aminoaciduria |
HP:0012450 | Chronic constipation |
HP:0011834 | Moyamoya phenomenon |
HP:0001297 | Stroke |
HP:0200049 | Upper limb hypertonia |
HP:0008981 | Calf muscle hypertrophy |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0006957 | Loss of ability to walk |
HP:0030098 | Reduced muscle dystrophin expression |
HP:0030115 | Reduced muscle fiber dysferlin |
HP:0002058 | Myopathic facies |
HP:0007858 | Chorioretinal lacunae |
HP:0006657 | Hypoplasia of first ribs |
HP:0007165 | Periventricular heterotopia |
HP:0009779 | 3-4 toe syndactyly |
HP:0010665 | Bilateral coxa valga |
HP:0007598 | Bilateral single transverse palmar creases |
HP:0006101 | Finger syndactyly |
HP:0010511 | Long toe |
HP:0002370 | Poor coordination |
HP:0000480 | Retinal coloboma |
HP:0001770 | Toe syndactyly |
HP:0010851 | EEG with burst suppression |
HP:0002791 | Hypoventilation |
HP:0040075 | Hypopituitarism |
HP:0012506 | Small pituitary gland |
HP:0000538 | Pseudopapilledema |
HP:0012717 | Severe conductive hearing impairment |
HP:0001370 | Rheumatoid arthritis |
HP:0000016 | Urinary retention |
HP:0012537 | Food intolerance |
HP:0011297 | Abnormal digit morphology |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0030148 | Heart murmur |
HP:0045018 | Partial duplication of eyebrows |
HP:0008998 | Pectoralis hypoplasia |
HP:0001707 | Abnormal right ventricle morphology |
HP:0001540 | Diastasis recti |
HP:0100693 | Iridodonesis |
HP:0002265 | Large fleshy ears |
HP:0001132 | Lens subluxation |
HP:0004927 | Pulmonary artery dilatation |
HP:0005619 | Thoracolumbar kyphosis |
HP:0008619 | Bilateral sensorineural hearing impairment |
HP:0001045 | Vitiligo |
HP:0009124 | Abnormal adipose tissue morphology |
HP:0002979 | Bowing of the legs |
HP:0000455 | Broad nasal tip |
HP:0001007 | Hirsutism |
HP:0010314 | Premature thelarche |
HP:0000075 | Renal duplication |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0001052 | Nevus flammeus |
HP:0200048 | Cyanotic episode |
HP:0001902 | Giant platelets |
HP:0030043 | Hip subluxation |
HP:0002938 | Lumbar hyperlordosis |
HP:0030084 | Clinodactyly |
HP:0005560 | Imbalanced hemoglobin synthesis |
HP:0001539 | Omphalocele |
HP:0009778 | Short thumb |
HP:0002277 | Horner syndrome |
HP:0011701 | Multifocal atrial tachycardia |
HP:0005274 | Prominent nasal tip |
HP:0001262 | Excessive daytime somnolence |
HP:0001285 | Spastic tetraparesis |
HP:0012171 | Stereotypical hand wringing |
HP:0002518 | Abnormality of the periventricular white matter |
HP:0005692 | Joint hyperflexibility |
HP:0007440 | Generalized hyperpigmentation |
HP:0001805 | Onychogryposis |
HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
HP:0003763 | Bruxism |
HP:0010500 | Hyperextensibility of the knee |
HP:0040115 | Abnormality of the Eustachian tube |
HP:0008751 | Laryngeal cleft |
HP:0000403 | Recurrent otitis media |
HP:0001787 | Abnormal delivery |
HP:0002571 | Achalasia |
HP:0002615 | Hypotension |
HP:0003550 | Predominantly lower limb lymphedema |
HP:0030363 | Primary Caesarian section |
HP:0001727 | Thromboembolic stroke |
HP:0100603 | Toxemia of pregnancy |
HP:0010836 | Abnormal circulating copper concentration |
HP:0000356 | Abnormality of the outer ear |
HP:0002197 | Generalized-onset seizure |
HP:0011436 | Abnormal maternal serum screening |
HP:0003517 | Birth length greater than 97th percentile |
HP:0003561 | Birth length less than 3rd percentile |
HP:0012188 | Hyperemesis gravidarum |
HP:0010519 | Increased fetal movement |
HP:0030244 | Maternal fever in pregnancy |
HP:0008071 | Maternal hypertension |
HP:0100622 | Maternal seizure |
HP:0011438 | Maternal teratogenic exposure |
HP:0001998 | Neonatal hypoglycemia |
HP:0040187 | Neonatal sepsis |
HP:0002033 | Poor suck |
HP:0006579 | Prolonged neonatal jaundice |
HP:0001724 | obsolete Aortic dilatation |
HP:0010621 | Cutaneous syndactyly of toes |
HP:0001880 | Eosinophilia |
HP:0000162 | Glossoptosis |
HP:0100578 | Lipoatrophy |
HP:0002562 | Low-set nipples |
HP:0012893 | Neck muscle hypertrophy |
HP:0001027 | Soft, doughy skin |
HP:0100738 | Abnormal eating behavior |
HP:0007328 | Impaired pain sensation |
HP:0002878 | Respiratory failure |
HP:0001776 | Bilateral talipes equinovarus |
HP:0001360 | Holoprosencephaly |
HP:0001973 | Autoimmune thrombocytopenia |
HP:0100749 | Chest pain |
HP:0012531 | Pain |
HP:0007585 | Skin fragility with non-scarring blistering |
HP:0002108 | Spontaneous pneumothorax |
HP:0006562 | Viral hepatitis |
HP:0012647 | Abnormal inflammatory response |
HP:0012088 | Abnormal urinary odor |
HP:0011458 | Abdominal symptom |
HP:0002829 | Arthralgia |
HP:0010783 | Erythema |
HP:0010307 | Stridor |
HP:0001269 | Hemiparesis |
HP:0006532 | Recurrent pneumonia |
HP:0002580 | Volvulus |
HP:0012387 | Bronchitis |
HP:0001266 | Choreoathetosis |
HP:0001531 | Failure to thrive in infancy |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0001361 | Nystagmus-induced head nodding |
HP:0001997 | Gout |
HP:0000965 | Cutis marmorata |
HP:0010316 | Ebstein anomaly of the tricuspid valve |
HP:0010543 | Opsoclonus |
HP:0007704 | Paroxysmal involuntary eye movements |
HP:0030364 | Secondary Caesarian section |
HP:0007738 | Uncontrolled eye movements |
HP:0030366 | Delivery by Odon device |
HP:0011411 | Forceps delivery |
HP:0030369 | Induced vaginal delivery |
HP:0005268 | Spontaneous abortion |
HP:0030365 | Vaginal birth after Caesarian |
HP:0011412 | Ventouse delivery |
HP:0002572 | Episodic vomiting |
HP:0030350 | Erythematous papule |
HP:0001386 | Joint swelling |
HP:0000147 | Polycystic ovaries |
HP:0012412 | Premature adrenarche |
HP:0004411 | Deviated nasal septum |
HP:0040183 | Encopresis |
HP:0100507 | Reduced blood folate concentration |
HP:0007011 | Fourth cranial nerve palsy |
HP:0000375 | Abnormal cochlea morphology |
HP:0009911 | Abnormal temporal bone morphology |
HP:0000081 | Duplicated collecting system |
HP:0006894 | Hypoplastic olfactory lobes |
HP:0011380 | Morphological abnormality of the semicircular canal |
HP:0000110 | Renal dysplasia |
HP:0030025 | Auricular pit |
HP:0010044 | Short 4th metacarpal |
HP:0010047 | Short 5th metacarpal |
HP:0000201 | Pierre-Robin sequence |
HP:0100837 | Atrophodermia vermiculata |
HP:0002673 | Coxa valga |
HP:0001476 | Delayed closure of the anterior fontanelle |
HP:0011069 | Increased number of teeth |
HP:0009879 | Simplified gyral pattern |
HP:0006315 | Single median maxillary incisor |
HP:0001194 | Abnormalities of placenta or umbilical cord |
HP:0100767 | Abnormal placenta morphology |
HP:0006543 | Cardiorespiratory arrest |
HP:0003074 | Hyperglycemia |
HP:0000842 | Hyperinsulinemia |
HP:0011951 | Aspiration pneumonia |
HP:0006528 | Chronic lung disease |
HP:0002383 | Encephalitis |
HP:0000388 | Otitis media |
HP:0002530 | Axial dystonia |
HP:0002780 | Bronchomalacia |
HP:0008755 | Laryngotracheomalacia |
HP:0000308 | Microretrognathia |
HP:0002786 | Tracheobronchomalacia |
HP:0012389 | Appendicular hypotonia |
HP:0011323 | Cleft of chin |
HP:0000417 | Slender nose |
HP:0001863 | Toe clinodactyly |
HP:0008386 | Aplasia/Hypoplasia of the nails |
HP:0006989 | Dysplastic corpus callosum |
HP:0100954 | Open operculum |
HP:0004482 | Relative macrocephaly |
HP:3000033 | Abnormal nasopharyngeal adenoid morphology |
HP:0009062 | Infantile axial hypotonia |
HP:0002189 | obsolete Excessive daytime sleepiness |
HP:0002141 | Gait imbalance |
HP:0012734 | Ketotic hypoglycemia |
HP:0005968 | Temperature instability |
HP:0012538 | Gluten intolerance |
HP:0000979 | Purpura |
HP:0001988 | Recurrent hypoglycemia |
HP:0001488 | Bilateral ptosis |
HP:0011229 | Broad eyebrow |
HP:0004440 | Coronal craniosynostosis |
HP:0004453 | Overfolding of the superior helices |
HP:0012547 | Abnormal involuntary eye movements |
HP:0100814 | Blue nevus |
HP:0010751 | Dimple chin |
HP:0007087 | obsolete Involuntary jerking movements |
HP:0012498 | Nuchal cord |
HP:0002472 | Small cerebral cortex |
HP:0100307 | Cerebellar hemisphere hypoplasia |
HP:0002151 | Increased serum lactate |
HP:0001698 | Pericardial effusion |
HP:0006903 | Congenital peripheral neuropathy |
HP:0006895 | Lower limb hypertonia |
HP:0002744 | Bilateral cleft lip and palate |
HP:0010664 | Fusion of the left and right thalami |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000474 | Thickened nuchal skin fold |
HP:0000105 | Enlarged kidney |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000104 | Renal agenesis |
HP:0001362 | Calvarial skull defect |
HP:0008245 | Pituitary hypothyroidism |
HP:0001552 | Barrel-shaped chest |
HP:0006297 | Hypoplasia of dental enamel |
HP:0100023 | Recurrent hand flapping |
HP:0005518 | Increased mean corpuscular volume |
HP:0012418 | Hypoxemia |
HP:0100259 | Postaxial polydactyly |
HP:0010814 | Abnormal position of hair whorl |
HP:0003764 | Nevus |
HP:0000445 | Wide nose |
HP:0010677 | Enuresis nocturna |
HP:0001510 | Growth delay |
HP:0012428 | Prominent calcaneus |
HP:0012471 | Thick vermilion border |
HP:0007110 | Central hypoventilation |
HP:0010614 | Fibroma |
HP:0001034 | Hypermelanotic macule |
HP:0011365 | Patchy hypopigmentation of hair |
HP:0001920 | Renal artery stenosis |
HP:0002828 | Multiple joint contractures |
HP:0002144 | Tethered cord |
HP:0010964 | Abnormal circulating long-chain fatty-acid concentration |
HP:0010536 | Central sleep apnea |
HP:0011262 | Crimped helix |
HP:0040079 | Irregular dentition |
HP:0011481 | Abnormal lacrimal duct morphology |
HP:0000220 | Velopharyngeal insufficiency |
HP:0002153 | Hyperkalemia |
HP:0002148 | Hypophosphatemia |
HP:0012621 | Persistent cloaca |
HP:0000867 | Secondary hyperparathyroidism |
HP:0003762 | Uterus didelphys |
HP:0100512 | Low levels of vitamin D |
HP:0012156 | Hemophagocytosis |
HP:0008209 | Premature ovarian insufficiency |
HP:0004349 | Reduced bone mineral density |
HP:0001924 | Sideroblastic anemia |
HP:0011703 | Sinus tachycardia |
HP:0010609 | Skin tags |
HP:0002725 | Systemic lupus erythematosus |
HP:0003193 | Allergic rhinitis |
HP:0006896 | Hypnopompic hallucinations |
HP:0002524 | Cataplexy |
HP:0005227 | Adenomatous colonic polyposis |
HP:0012173 | Orthostatic tachycardia |
HP:0001271 | Polyneuropathy |
HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
HP:0000625 | Eyelid coloboma |
HP:0009754 | Fibrous syngnathia |
HP:0012478 | Temporomandibular joint ankylosis |
HP:0001233 | 2-3 finger syndactyly |
HP:0000811 | Abnormal external genitalia |
HP:0005120 | Abnormal cardiac atrium morphology |
HP:0008388 | Abnormal toenail morphology |
HP:0011467 | Absent gallbladder |
HP:0010760 | Absent toe |
HP:0001545 | Anteriorly placed anus |
HP:0001640 | Cardiomegaly |
HP:0002990 | Fibular aplasia |
HP:0004443 | Lambdoidal craniosynostosis |
HP:0008569 | Microtia, second degree |
HP:0006277 | Pancreatic hyperplasia |
HP:0010445 | Primum atrial septal defect |
HP:0011640 | Single coronary artery origin |
HP:0011608 | Type II truncus arteriosus |
HP:0011327 | Posterior plagiocephaly |
HP:0007655 | Eversion of lateral third of lower eyelids |
HP:0010747 | Medial flaring of the eyebrow |
HP:0005957 | Breathing dysregulation |
HP:0000992 | Cutaneous photosensitivity |
HP:0011995 | Atrial septal dilatation |
HP:0000377 | Abnormality of the pinna |
HP:0011266 | Microtia, first degree |
HP:0012650 | Perisylvian polymicrogyria |
HP:0004970 | Ascending tubular aorta aneurysm |
HP:0008348 | Decreased circulating IgG2 level |
HP:0012115 | Hepatitis |
HP:0006979 | Sleep-wake cycle disturbance |
HP:0008587 | Mild neurosensory hearing impairment |
HP:0006097 | 3-4 finger syndactyly |
HP:0005263 | Gastritis |
HP:0200043 | Verrucae |
HP:0009600 | Flexion contracture of thumb |
HP:0010818 | Generalized tonic seizure |
HP:0002599 | Head titubation |
HP:0002090 | Pneumonia |
HP:0030423 | Splenic cyst |
HP:0030187 | Titubation |
HP:0002375 | Hypokinesia |
HP:0007166 | Paroxysmal dyskinesia |
HP:0003077 | Hyperlipidemia |
HP:0000017 | Nocturia |
HP:0100555 | Asymmetric growth |
HP:0011847 | Giant cell tumor of bone |
HP:0000112 | Nephropathy |
HP:0000246 | Sinusitis |
HP:0001012 | Multiple lipomas |
HP:0000851 | Congenital hypothyroidism |
HP:0002345 | Action tremor |
HP:0002677 | Small foramen magnum |
HP:0011947 | Respiratory tract infection |
HP:0012151 | Hemothorax |
HP:0005988 | Congenital muscular torticollis |
HP:0002329 | Drowsiness |
HP:0012395 | Seasonal allergy |
HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
HP:0001864 | Clinodactyly of the 5th toe |
HP:0006934 | Congenital nystagmus |
HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
HP:0007894 | Hypopigmentation of the fundus |
HP:0012377 | Hemianopia |
HP:0002354 | Memory impairment |
HP:0000872 | Hashimoto thyroiditis |
HP:0002519 | Hypnagogic hallucinations |
HP:0010647 | Abnormal elasticity of skin |
HP:0002592 | Gastric ulcer |
HP:0004938 | Tortuous cerebral arteries |
HP:0004948 | Vascular tortuosity |
HP:0002516 | Increased intracranial pressure |
HP:0006460 | Increased laxity of ankles |
HP:0002317 | Unsteady gait |
HP:0000182 | Movement abnormality of the tongue |
HP:0009887 | Abnormality of hair pigmentation |
HP:0005824 | Clinodactyly of the 2nd toe |
HP:0002212 | Curly hair |
HP:0009803 | Short phalanx of finger |
HP:0000572 | Visual loss |
HP:0005216 | Impaired mastication |
HP:0000619 | Impaired convergence |
HP:0002403 | Positive Romberg sign |
HP:0008744 | Abnormal aryepiglottic fold morphology |
HP:0002374 | Diminished movement |
HP:0008277 | Abnormal blood zinc concentration |
HP:0012781 | Mid-frequency hearing loss |
HP:0100758 | Gangrene |
HP:0003256 | Abnormality of the coagulation cascade |
HP:0004387 | Enterocolitis |
HP:0011029 | Internal hemorrhage |
HP:0011649 | Patent ductus arteriosus after premature birth |
HP:0012050 | Anasarca |
HP:0001683 | Ectopia cordis |
HP:0011682 | Perimembranous ventricular septal defect |
HP:0010624 | Aplastic/hypoplastic toenail |
HP:0002705 | High, narrow palate |
HP:0011340 | Incomplete cleft of the upper lip |
HP:0011613 | Interrupted aortic arch type B |
HP:0006167 | Prominent proximal interphalangeal joints |
HP:0002918 | Hypermagnesemia |
HP:0011937 | Hypoplastic fifth toenail |
HP:0001067 | Neurofibromas |
HP:0011403 | Abnormal umbilical cord blood vessels |
HP:0003316 | Butterfly vertebrae |
HP:0002247 | Duodenal atresia |
HP:0008439 | Lumbar hemivertebrae |
HP:0011599 | Mesocardia |
HP:0008467 | Thoracic hemivertebrae |
HP:0004626 | Lumbar scoliosis |
HP:0006808 | Cerebral hypomyelination |
HP:0002926 | Abnormality of thyroid physiology |
HP:0007970 | Congenital ptosis |
"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/hp.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "HPO"];
- fhir:CodeSystem.title [ fhir:value "Human Phenotype Ontology"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/hp.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "HPO"]; #
+ fhir:CodeSystem.title [ fhir:value "Human Phenotype Ontology"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -37,17 +37,17 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org"];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org"]; #
fhir:CodeSystem.valueSet [
fhir:value "http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes";
fhir:link
- ];
- fhir:CodeSystem.hierarchyMeaning [ fhir:value "is-a"];
- fhir:CodeSystem.compositional [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.versionNeeded [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "1880"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.hierarchyMeaning [ fhir:value "is-a"]; #
+ fhir:CodeSystem.compositional [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.versionNeeded [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "1880"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.filter [
fhir:index 0;
fhir:CodeSystem.filter.code [ fhir:value "root" ];
@@ -72,7 +72,7 @@
fhir:index 0
];
fhir:CodeSystem.filter.value [ fhir:value "True or false" ]
- ];
+ ]; #
fhir:CodeSystem.property [
fhir:index 0;
fhir:CodeSystem.property.code [ fhir:value "parent" ];
@@ -93,7 +93,7 @@
fhir:CodeSystem.property.code [ fhir:value "deprecated" ];
fhir:CodeSystem.property.description [ fhir:value "Indicates if this concept is deprecated." ];
fhir:CodeSystem.property.type [ fhir:value "boolean" ]
- ];
+ ]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "HP:0000365" ];
@@ -7614,7 +7614,7 @@
fhir:index 1879;
fhir:CodeSystem.concept.code [ fhir:value "HP:0007970" ];
fhir:CodeSystem.concept.display [ fhir:value "Congenital ptosis" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-hpo.ttl.html b/CodeSystem-hpo.ttl.html
index 0d5e8f0a..412abcae 100644
--- a/CodeSystem-hpo.ttl.html
+++ b/CodeSystem-hpo.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Human Phenotype Ontology - TTL Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,19 +294,19 @@ : Human Phenotype Ontology - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "hpo"];
+ fhir:Resource.id [ fhir:value "hpo"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Properties</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Type</b></td><td><b>Description</b></td></tr><tr><td>parent</td><td>code</td><td>Parent codes.</td></tr><tr><td>imported</td><td>boolean</td><td>Indicates if the concept is imported from another code system.</td></tr><tr><td>root</td><td>boolean</td><td>Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)</td></tr><tr><td>deprecated</td><td>boolean</td><td>Indicates if this concept is deprecated.</td></tr></table><p><b>Filters</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Description</b></td><td><b>operator</b></td><td><b>Value</b></td></tr><tr><td>root</td><td/><td>= </td><td>True or false.</td></tr><tr><td>deprecated</td><td/><td>= </td><td>True or false.</td></tr><tr><td>imported</td><td/><td>= </td><td>True or false</td></tr></table><p>This code system <code>http://purl.obolibrary.org/obo/hp.owl</code> defines many codes, of which the following are a subset:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">HP:0000365<a name=\"hpo-HP.580000365\"> </a></td><td>Hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002564<a name=\"hpo-HP.580002564\"> </a></td><td>obsolete Malformation of the heart and great vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0001028<a name=\"hpo-HP.580001028\"> </a></td><td>Hemangioma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000476<a name=\"hpo-HP.580000476\"> </a></td><td>Cystic hygroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000568<a name=\"hpo-HP.580000568\"> </a></td><td>Microphthalmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000518<a name=\"hpo-HP.580000518\"> </a></td><td>Cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000612<a name=\"hpo-HP.580000612\"> </a></td><td>Iris coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000567<a name=\"hpo-HP.580000567\"> </a></td><td>Chorioretinal coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000316<a name=\"hpo-HP.580000316\"> </a></td><td>Hypertelorism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000482<a name=\"hpo-HP.580000482\"> </a></td><td>Microcornea</td></tr><tr><td style=\"white-space:nowrap\">HP:0000588<a name=\"hpo-HP.580000588\"> </a></td><td>Optic nerve coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0004426<a name=\"hpo-HP.580004426\"> </a></td><td>Abnormality of the cheek</td></tr><tr><td style=\"white-space:nowrap\">HP:0009125<a name=\"hpo-HP.580009125\"> </a></td><td>Lipodystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002023<a name=\"hpo-HP.580002023\"> </a></td><td>Anal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003468<a name=\"hpo-HP.580003468\"> </a></td><td>Abnormal vertebral morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000545<a name=\"hpo-HP.580000545\"> </a></td><td>Myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000122<a name=\"hpo-HP.580000122\"> </a></td><td>Unilateral renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002143<a name=\"hpo-HP.580002143\"> </a></td><td>Abnormality of the spinal cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0003508<a name=\"hpo-HP.580003508\"> </a></td><td>Proportionate short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0000271<a name=\"hpo-HP.580000271\"> </a></td><td>Abnormality of the face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000637<a name=\"hpo-HP.580000637\"> </a></td><td>Long palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000492<a name=\"hpo-HP.580000492\"> </a></td><td>Abnormal eyelid morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000389<a name=\"hpo-HP.580000389\"> </a></td><td>Chronic otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0000400<a name=\"hpo-HP.580000400\"> </a></td><td>Macrotia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000405<a name=\"hpo-HP.580000405\"> </a></td><td>Conductive hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0012712<a name=\"hpo-HP.580012712\"> </a></td><td>Mild hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0005280<a name=\"hpo-HP.580005280\"> </a></td><td>Depressed nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000431<a name=\"hpo-HP.580000431\"> </a></td><td>Wide nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000319<a name=\"hpo-HP.580000319\"> </a></td><td>Smooth philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000175<a name=\"hpo-HP.580000175\"> </a></td><td>Cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001611<a name=\"hpo-HP.580001611\"> </a></td><td>Nasal speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0002099<a name=\"hpo-HP.580002099\"> </a></td><td>Asthma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001397<a name=\"hpo-HP.580001397\"> </a></td><td>Hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001081<a name=\"hpo-HP.580001081\"> </a></td><td>Cholelithiasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002650<a name=\"hpo-HP.580002650\"> </a></td><td>Scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001212<a name=\"hpo-HP.580001212\"> </a></td><td>Prominent fingertip pads</td></tr><tr><td style=\"white-space:nowrap\">HP:0001328<a name=\"hpo-HP.580001328\"> </a></td><td>Specific learning disability</td></tr><tr><td style=\"white-space:nowrap\">HP:0000824<a name=\"hpo-HP.580000824\"> </a></td><td>Growth hormone deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002607<a name=\"hpo-HP.580002607\"> </a></td><td>Bowel incontinence</td></tr><tr><td style=\"white-space:nowrap\">HP:0100731<a name=\"hpo-HP.580100731\"> </a></td><td>Transverse facial cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0000528<a name=\"hpo-HP.580000528\"> </a></td><td>Anophthalmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000601<a name=\"hpo-HP.580000601\"> </a></td><td>Hypotelorism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000369<a name=\"hpo-HP.580000369\"> </a></td><td>Low-set ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001274<a name=\"hpo-HP.580001274\"> </a></td><td>Agenesis of corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002084<a name=\"hpo-HP.580002084\"> </a></td><td>Encephalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0007033<a name=\"hpo-HP.580007033\"> </a></td><td>Cerebellar dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100336<a name=\"hpo-HP.580100336\"> </a></td><td>Bilateral cleft lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0100337<a name=\"hpo-HP.580100337\"> </a></td><td>Bilateral cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001511<a name=\"hpo-HP.580001511\"> </a></td><td>Intrauterine growth retardation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011451<a name=\"hpo-HP.580011451\"> </a></td><td>Congenital microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000324<a name=\"hpo-HP.580000324\"> </a></td><td>Facial asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0000581<a name=\"hpo-HP.580000581\"> </a></td><td>Blepharophimosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000508<a name=\"hpo-HP.580000508\"> </a></td><td>Ptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008551<a name=\"hpo-HP.580008551\"> </a></td><td>Microtia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001631<a name=\"hpo-HP.580001631\"> </a></td><td>Atrial septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0000085<a name=\"hpo-HP.580000085\"> </a></td><td>Horseshoe kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0011927<a name=\"hpo-HP.580011927\"> </a></td><td>Short digit</td></tr><tr><td style=\"white-space:nowrap\">HP:0001156<a name=\"hpo-HP.580001156\"> </a></td><td>Brachydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002066<a name=\"hpo-HP.580002066\"> </a></td><td>Gait ataxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001250<a name=\"hpo-HP.580001250\"> </a></td><td>Seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001263<a name=\"hpo-HP.580001263\"> </a></td><td>Global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0001562<a name=\"hpo-HP.580001562\"> </a></td><td>Oligohydramnios</td></tr><tr><td style=\"white-space:nowrap\">HP:0001195<a name=\"hpo-HP.580001195\"> </a></td><td>Single umbilical artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0006349<a name=\"hpo-HP.580006349\"> </a></td><td>Agenesis of permanent teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000668<a name=\"hpo-HP.580000668\"> </a></td><td>Hypodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000677<a name=\"hpo-HP.580000677\"> </a></td><td>Oligodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001252<a name=\"hpo-HP.580001252\"> </a></td><td>Muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003429<a name=\"hpo-HP.580003429\"> </a></td><td>CNS hypomyelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0010864<a name=\"hpo-HP.580010864\"> </a></td><td>Intellectual disability, severe</td></tr><tr><td style=\"white-space:nowrap\">HP:0004325<a name=\"hpo-HP.580004325\"> </a></td><td>Decreased body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000666<a name=\"hpo-HP.580000666\"> </a></td><td>Horizontal nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000218<a name=\"hpo-HP.580000218\"> </a></td><td>High palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0010809<a name=\"hpo-HP.580010809\"> </a></td><td>Broad uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000767<a name=\"hpo-HP.580000767\"> </a></td><td>Pectus excavatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0003691<a name=\"hpo-HP.580003691\"> </a></td><td>Scapular winging</td></tr><tr><td style=\"white-space:nowrap\">HP:0002616<a name=\"hpo-HP.580002616\"> </a></td><td>Aortic root aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0001601<a name=\"hpo-HP.580001601\"> </a></td><td>Laryngomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002021<a name=\"hpo-HP.580002021\"> </a></td><td>Pyloric stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001388<a name=\"hpo-HP.580001388\"> </a></td><td>Joint laxity</td></tr><tr><td style=\"white-space:nowrap\">HP:0001187<a name=\"hpo-HP.580001187\"> </a></td><td>Hyperextensibility of the finger joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0000741<a name=\"hpo-HP.580000741\"> </a></td><td>Apathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000817<a name=\"hpo-HP.580000817\"> </a></td><td>Poor eye contact</td></tr><tr><td style=\"white-space:nowrap\">HP:0000821<a name=\"hpo-HP.580000821\"> </a></td><td>Hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000002<a name=\"hpo-HP.580000002\"> </a></td><td>Abnormality of body height</td></tr><tr><td style=\"white-space:nowrap\">HP:0000079<a name=\"hpo-HP.580000079\"> </a></td><td>Abnormality of the urinary system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000164<a name=\"hpo-HP.580000164\"> </a></td><td>Abnormality of the dentition</td></tr><tr><td style=\"white-space:nowrap\">HP:0000364<a name=\"hpo-HP.580000364\"> </a></td><td>Hearing abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000366<a name=\"hpo-HP.580000366\"> </a></td><td>Abnormality of the nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0000464<a name=\"hpo-HP.580000464\"> </a></td><td>Abnormality of the neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000707<a name=\"hpo-HP.580000707\"> </a></td><td>Abnormality of the nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000708<a name=\"hpo-HP.580000708\"> </a></td><td>Behavioral abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000769<a name=\"hpo-HP.580000769\"> </a></td><td>Abnormality of the breast</td></tr><tr><td style=\"white-space:nowrap\">HP:0000772<a name=\"hpo-HP.580000772\"> </a></td><td>Abnormality of the ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000775<a name=\"hpo-HP.580000775\"> </a></td><td>Abnormality of the diaphragm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000889<a name=\"hpo-HP.580000889\"> </a></td><td>Abnormality of the clavicle</td></tr><tr><td style=\"white-space:nowrap\">HP:0000925<a name=\"hpo-HP.580000925\"> </a></td><td>Abnormality of the vertebral column</td></tr><tr><td style=\"white-space:nowrap\">HP:0001080<a name=\"hpo-HP.580001080\"> </a></td><td>Biliary tract abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001392<a name=\"hpo-HP.580001392\"> </a></td><td>Abnormality of the liver</td></tr><tr><td style=\"white-space:nowrap\">HP:0001438<a name=\"hpo-HP.580001438\"> </a></td><td>Abnormal abdomen morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001608<a name=\"hpo-HP.580001608\"> </a></td><td>Abnormality of the voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001627<a name=\"hpo-HP.580001627\"> </a></td><td>Abnormal heart morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001732<a name=\"hpo-HP.580001732\"> </a></td><td>Abnormality of the pancreas</td></tr><tr><td style=\"white-space:nowrap\">HP:0001739<a name=\"hpo-HP.580001739\"> </a></td><td>Abnormality of the nasopharynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0001743<a name=\"hpo-HP.580001743\"> </a></td><td>Abnormality of the spleen</td></tr><tr><td style=\"white-space:nowrap\">HP:0001760<a name=\"hpo-HP.580001760\"> </a></td><td>Abnormal foot morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001871<a name=\"hpo-HP.580001871\"> </a></td><td>Abnormality of blood and blood-forming tissues</td></tr><tr><td style=\"white-space:nowrap\">HP:0002031<a name=\"hpo-HP.580002031\"> </a></td><td>Abnormal esophagus morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002244<a name=\"hpo-HP.580002244\"> </a></td><td>Abnormality of the small intestine</td></tr><tr><td style=\"white-space:nowrap\">HP:0002246<a name=\"hpo-HP.580002246\"> </a></td><td>Abnormality of the duodenum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002250<a name=\"hpo-HP.580002250\"> </a></td><td>Abnormal large intestine morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002644<a name=\"hpo-HP.580002644\"> </a></td><td>Abnormality of pelvic girdle bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002664<a name=\"hpo-HP.580002664\"> </a></td><td>Neoplasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0002715<a name=\"hpo-HP.580002715\"> </a></td><td>Abnormality of the immune system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002814<a name=\"hpo-HP.580002814\"> </a></td><td>Abnormality of the lower limb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002817<a name=\"hpo-HP.580002817\"> </a></td><td>Abnormality of the upper limb</td></tr><tr><td style=\"white-space:nowrap\">HP:0005483<a name=\"hpo-HP.580005483\"> </a></td><td>Abnormal epiglottis morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008777<a name=\"hpo-HP.580008777\"> </a></td><td>Abnormal vocal cord morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011844<a name=\"hpo-HP.580011844\"> </a></td><td>Abnormal appendicular skeleton morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012732<a name=\"hpo-HP.580012732\"> </a></td><td>Anorectal anomaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001508<a name=\"hpo-HP.580001508\"> </a></td><td>Failure to thrive</td></tr><tr><td style=\"white-space:nowrap\">HP:0002902<a name=\"hpo-HP.580002902\"> </a></td><td>Hyponatremia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012236<a name=\"hpo-HP.580012236\"> </a></td><td>Elevated sweat chloride</td></tr><tr><td style=\"white-space:nowrap\">HP:0000347<a name=\"hpo-HP.580000347\"> </a></td><td>Micrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000926<a name=\"hpo-HP.580000926\"> </a></td><td>Platyspondyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001371<a name=\"hpo-HP.580001371\"> </a></td><td>Flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0001875<a name=\"hpo-HP.580001875\"> </a></td><td>Neutropenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001888<a name=\"hpo-HP.580001888\"> </a></td><td>Lymphopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002857<a name=\"hpo-HP.580002857\"> </a></td><td>Genu valgum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002986<a name=\"hpo-HP.580002986\"> </a></td><td>Radial bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003015<a name=\"hpo-HP.580003015\"> </a></td><td>Flared metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003025<a name=\"hpo-HP.580003025\"> </a></td><td>Metaphyseal irregularity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003097<a name=\"hpo-HP.580003097\"> </a></td><td>Short femur</td></tr><tr><td style=\"white-space:nowrap\">HP:0003300<a name=\"hpo-HP.580003300\"> </a></td><td>Ovoid vertebral bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0003307<a name=\"hpo-HP.580003307\"> </a></td><td>Hyperlordosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004209<a name=\"hpo-HP.580004209\"> </a></td><td>Clinodactyly of the 5th finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0004322<a name=\"hpo-HP.580004322\"> </a></td><td>Short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0005792<a name=\"hpo-HP.580005792\"> </a></td><td>Short humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0006248<a name=\"hpo-HP.580006248\"> </a></td><td>Limited wrist movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0000944<a name=\"hpo-HP.580000944\"> </a></td><td>Abnormality of the metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011921<a name=\"hpo-HP.580011921\"> </a></td><td>Exudative pleural effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0003043<a name=\"hpo-HP.580003043\"> </a></td><td>Abnormality of the shoulder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000290<a name=\"hpo-HP.580000290\"> </a></td><td>Abnormality of the forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0005288<a name=\"hpo-HP.580005288\"> </a></td><td>Abnormality of the nares</td></tr><tr><td style=\"white-space:nowrap\">HP:0000234<a name=\"hpo-HP.580000234\"> </a></td><td>Abnormality of the head</td></tr><tr><td style=\"white-space:nowrap\">HP:0004323<a name=\"hpo-HP.580004323\"> </a></td><td>Abnormality of body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000483<a name=\"hpo-HP.580000483\"> </a></td><td>Astigmatism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011003<a name=\"hpo-HP.580011003\"> </a></td><td>High myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000470<a name=\"hpo-HP.580000470\"> </a></td><td>Short neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0030044<a name=\"hpo-HP.580030044\"> </a></td><td>Flexion contracture of digit</td></tr><tr><td style=\"white-space:nowrap\">HP:0100871<a name=\"hpo-HP.580100871\"> </a></td><td>Abnormality of the palm</td></tr><tr><td style=\"white-space:nowrap\">HP:0004334<a name=\"hpo-HP.580004334\"> </a></td><td>Dermal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001845<a name=\"hpo-HP.580001845\"> </a></td><td>Overlapping toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000496<a name=\"hpo-HP.580000496\"> </a></td><td>Abnormality of eye movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0001780<a name=\"hpo-HP.580001780\"> </a></td><td>Abnormality of toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001626<a name=\"hpo-HP.580001626\"> </a></td><td>Abnormality of the cardiovascular system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002086<a name=\"hpo-HP.580002086\"> </a></td><td>Abnormality of the respiratory system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000818<a name=\"hpo-HP.580000818\"> </a></td><td>Abnormality of the endocrine system</td></tr><tr><td style=\"white-space:nowrap\">HP:0012372<a name=\"hpo-HP.580012372\"> </a></td><td>Abnormal eye morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009473<a name=\"hpo-HP.580009473\"> </a></td><td>Joint contracture of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0003199<a name=\"hpo-HP.580003199\"> </a></td><td>Decreased muscle mass</td></tr><tr><td style=\"white-space:nowrap\">HP:0003202<a name=\"hpo-HP.580003202\"> </a></td><td>Skeletal muscle atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003551<a name=\"hpo-HP.580003551\"> </a></td><td>Difficulty climbing stairs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002355<a name=\"hpo-HP.580002355\"> </a></td><td>Difficulty walking</td></tr><tr><td style=\"white-space:nowrap\">HP:0003546<a name=\"hpo-HP.580003546\"> </a></td><td>Exercise intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0003325<a name=\"hpo-HP.580003325\"> </a></td><td>Limb-girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003701<a name=\"hpo-HP.580003701\"> </a></td><td>Proximal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003547<a name=\"hpo-HP.580003547\"> </a></td><td>Shoulder girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0007340<a name=\"hpo-HP.580007340\"> </a></td><td>Lower limb muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002168<a name=\"hpo-HP.580002168\"> </a></td><td>Scanning speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0001265<a name=\"hpo-HP.580001265\"> </a></td><td>Hyporeflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001284<a name=\"hpo-HP.580001284\"> </a></td><td>Areflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003477<a name=\"hpo-HP.580003477\"> </a></td><td>Peripheral axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000924<a name=\"hpo-HP.580000924\"> </a></td><td>Abnormality of the skeletal system</td></tr><tr><td style=\"white-space:nowrap\">HP:0001291<a name=\"hpo-HP.580001291\"> </a></td><td>Abnormal cranial nerve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003687<a name=\"hpo-HP.580003687\"> </a></td><td>Centrally nucleated skeletal muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0001324<a name=\"hpo-HP.580001324\"> </a></td><td>Muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002515<a name=\"hpo-HP.580002515\"> </a></td><td>Waddling gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0100280<a name=\"hpo-HP.580100280\"> </a></td><td>Crohn's disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0002631<a name=\"hpo-HP.580002631\"> </a></td><td>obsolete Dilatation of ascending aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0100026<a name=\"hpo-HP.580100026\"> </a></td><td>Arteriovenous malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002637<a name=\"hpo-HP.580002637\"> </a></td><td>Cerebral ischemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002619<a name=\"hpo-HP.580002619\"> </a></td><td>Varicose veins</td></tr><tr><td style=\"white-space:nowrap\">HP:0001159<a name=\"hpo-HP.580001159\"> </a></td><td>Syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002069<a name=\"hpo-HP.580002069\"> </a></td><td>Bilateral tonic-clonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000977<a name=\"hpo-HP.580000977\"> </a></td><td>Soft skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010648<a name=\"hpo-HP.580010648\"> </a></td><td>Dermal translucency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000978<a name=\"hpo-HP.580000978\"> </a></td><td>Bruising susceptibility</td></tr><tr><td style=\"white-space:nowrap\">HP:0001956<a name=\"hpo-HP.580001956\"> </a></td><td>Truncal obesity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000189<a name=\"hpo-HP.580000189\"> </a></td><td>Narrow palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000678<a name=\"hpo-HP.580000678\"> </a></td><td>Dental crowding</td></tr><tr><td style=\"white-space:nowrap\">HP:0002870<a name=\"hpo-HP.580002870\"> </a></td><td>Obstructive sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001763<a name=\"hpo-HP.580001763\"> </a></td><td>Pes planus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000782<a name=\"hpo-HP.580000782\"> </a></td><td>Abnormality of the scapula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001600<a name=\"hpo-HP.580001600\"> </a></td><td>Abnormality of the larynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0002088<a name=\"hpo-HP.580002088\"> </a></td><td>Abnormal lung morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011407<a name=\"hpo-HP.580011407\"> </a></td><td>Proportionate tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0000541<a name=\"hpo-HP.580000541\"> </a></td><td>Retinal detachment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001373<a name=\"hpo-HP.580001373\"> </a></td><td>Joint dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000938<a name=\"hpo-HP.580000938\"> </a></td><td>Osteopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002942<a name=\"hpo-HP.580002942\"> </a></td><td>Thoracic kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001840<a name=\"hpo-HP.580001840\"> </a></td><td>Metatarsus adductus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001844<a name=\"hpo-HP.580001844\"> </a></td><td>Abnormality of the hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0001765<a name=\"hpo-HP.580001765\"> </a></td><td>Hammertoe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000606<a name=\"hpo-HP.580000606\"> </a></td><td>Abnormality of the periorbital region</td></tr><tr><td style=\"white-space:nowrap\">HP:0002757<a name=\"hpo-HP.580002757\"> </a></td><td>Recurrent fractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0000647<a name=\"hpo-HP.580000647\"> </a></td><td>Sclerocornea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001166<a name=\"hpo-HP.580001166\"> </a></td><td>Arachnodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005490<a name=\"hpo-HP.580005490\"> </a></td><td>Postnatal macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0011363<a name=\"hpo-HP.580011363\"> </a></td><td>Abnormality of hair growth rate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000276<a name=\"hpo-HP.580000276\"> </a></td><td>Long face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000275<a name=\"hpo-HP.580000275\"> </a></td><td>Narrow face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000337<a name=\"hpo-HP.580000337\"> </a></td><td>Broad forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0002267<a name=\"hpo-HP.580002267\"> </a></td><td>Exaggerated startle response</td></tr><tr><td style=\"white-space:nowrap\">HP:0002187<a name=\"hpo-HP.580002187\"> </a></td><td>Intellectual disability, profound</td></tr><tr><td style=\"white-space:nowrap\">HP:0000728<a name=\"hpo-HP.580000728\"> </a></td><td>Impaired ability to form peer relationships</td></tr><tr><td style=\"white-space:nowrap\">HP:0000733<a name=\"hpo-HP.580000733\"> </a></td><td>Stereotypy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000739<a name=\"hpo-HP.580000739\"> </a></td><td>Anxiety</td></tr><tr><td style=\"white-space:nowrap\">HP:0000929<a name=\"hpo-HP.580000929\"> </a></td><td>Abnormal skull morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001965<a name=\"hpo-HP.580001965\"> </a></td><td>Abnormal scalp morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100538<a name=\"hpo-HP.580100538\"> </a></td><td>Abnormality of the supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0000309<a name=\"hpo-HP.580000309\"> </a></td><td>Abnormality of the midface</td></tr><tr><td style=\"white-space:nowrap\">HP:0000277<a name=\"hpo-HP.580000277\"> </a></td><td>Abnormality of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000765<a name=\"hpo-HP.580000765\"> </a></td><td>Abnormality of the thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0100008<a name=\"hpo-HP.580100008\"> </a></td><td>Schwannoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0030038<a name=\"hpo-HP.580030038\"> </a></td><td>Enchondroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0100777<a name=\"hpo-HP.580100777\"> </a></td><td>Exostoses</td></tr><tr><td style=\"white-space:nowrap\">HP:0011663<a name=\"hpo-HP.580011663\"> </a></td><td>Right ventricular cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011675<a name=\"hpo-HP.580011675\"> </a></td><td>Arrhythmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001962<a name=\"hpo-HP.580001962\"> </a></td><td>Palpitations</td></tr><tr><td style=\"white-space:nowrap\">HP:0001279<a name=\"hpo-HP.580001279\"> </a></td><td>Syncope</td></tr><tr><td style=\"white-space:nowrap\">HP:0004756<a name=\"hpo-HP.580004756\"> </a></td><td>Ventricular tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000252<a name=\"hpo-HP.580000252\"> </a></td><td>Microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000303<a name=\"hpo-HP.580000303\"> </a></td><td>Mandibular prognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000664<a name=\"hpo-HP.580000664\"> </a></td><td>Synophrys</td></tr><tr><td style=\"white-space:nowrap\">HP:0001609<a name=\"hpo-HP.580001609\"> </a></td><td>Hoarse voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0002558<a name=\"hpo-HP.580002558\"> </a></td><td>Supernumerary nipple</td></tr><tr><td style=\"white-space:nowrap\">HP:0001634<a name=\"hpo-HP.580001634\"> </a></td><td>Mitral valve prolapse</td></tr><tr><td style=\"white-space:nowrap\">HP:0000028<a name=\"hpo-HP.580000028\"> </a></td><td>Cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000973<a name=\"hpo-HP.580000973\"> </a></td><td>Cutis laxa</td></tr><tr><td style=\"white-space:nowrap\">HP:0001518<a name=\"hpo-HP.580001518\"> </a></td><td>Small for gestational age</td></tr><tr><td style=\"white-space:nowrap\">HP:0000527<a name=\"hpo-HP.580000527\"> </a></td><td>Long eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002808<a name=\"hpo-HP.580002808\"> </a></td><td>Kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000248<a name=\"hpo-HP.580000248\"> </a></td><td>Brachycephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000505<a name=\"hpo-HP.580000505\"> </a></td><td>Visual impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000512<a name=\"hpo-HP.580000512\"> </a></td><td>Abnormal electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:0000517<a name=\"hpo-HP.580000517\"> </a></td><td>Abnormality of the lens</td></tr><tr><td style=\"white-space:nowrap\">HP:0000529<a name=\"hpo-HP.580000529\"> </a></td><td>Progressive visual loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0000586<a name=\"hpo-HP.580000586\"> </a></td><td>Shallow orbits</td></tr><tr><td style=\"white-space:nowrap\">HP:0000603<a name=\"hpo-HP.580000603\"> </a></td><td>Central scotoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000939<a name=\"hpo-HP.580000939\"> </a></td><td>Osteoporosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001377<a name=\"hpo-HP.580001377\"> </a></td><td>Limited elbow extension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001387<a name=\"hpo-HP.580001387\"> </a></td><td>Joint stiffness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001822<a name=\"hpo-HP.580001822\"> </a></td><td>Hallux valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0002657<a name=\"hpo-HP.580002657\"> </a></td><td>Spondylometaphyseal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003026<a name=\"hpo-HP.580003026\"> </a></td><td>Short long bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0006462<a name=\"hpo-HP.580006462\"> </a></td><td>Generalized bone demineralization</td></tr><tr><td style=\"white-space:nowrap\">HP:0008873<a name=\"hpo-HP.580008873\"> </a></td><td>Disproportionate short-limb short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0008905<a name=\"hpo-HP.580008905\"> </a></td><td>Rhizomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008922<a name=\"hpo-HP.580008922\"> </a></td><td>Childhood-onset short-trunk short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0200020<a name=\"hpo-HP.580200020\"> </a></td><td>Corneal erosion</td></tr><tr><td style=\"white-space:nowrap\">HP:0001172<a name=\"hpo-HP.580001172\"> </a></td><td>Abnormal thumb morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002286<a name=\"hpo-HP.580002286\"> </a></td><td>Fair hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0010719<a name=\"hpo-HP.580010719\"> </a></td><td>Abnormality of hair texture</td></tr><tr><td style=\"white-space:nowrap\">HP:0010720<a name=\"hpo-HP.580010720\"> </a></td><td>Abnormal hair pattern</td></tr><tr><td style=\"white-space:nowrap\">HP:0001635<a name=\"hpo-HP.580001635\"> </a></td><td>Congestive heart failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001644<a name=\"hpo-HP.580001644\"> </a></td><td>Dilated cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001663<a name=\"hpo-HP.580001663\"> </a></td><td>Ventricular fibrillation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011712<a name=\"hpo-HP.580011712\"> </a></td><td>Right bundle branch block</td></tr><tr><td style=\"white-space:nowrap\">HP:0000272<a name=\"hpo-HP.580000272\"> </a></td><td>Malar flattening</td></tr><tr><td style=\"white-space:nowrap\">HP:0000286<a name=\"hpo-HP.580000286\"> </a></td><td>Epicanthus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000322<a name=\"hpo-HP.580000322\"> </a></td><td>Short philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000463<a name=\"hpo-HP.580000463\"> </a></td><td>Anteverted nares</td></tr><tr><td style=\"white-space:nowrap\">HP:0000494<a name=\"hpo-HP.580000494\"> </a></td><td>Downslanted palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0000543<a name=\"hpo-HP.580000543\"> </a></td><td>Optic disc pallor</td></tr><tr><td style=\"white-space:nowrap\">HP:0000699<a name=\"hpo-HP.580000699\"> </a></td><td>Diastema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000773<a name=\"hpo-HP.580000773\"> </a></td><td>Short ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000887<a name=\"hpo-HP.580000887\"> </a></td><td>Cupped ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000946<a name=\"hpo-HP.580000946\"> </a></td><td>Hypoplastic ilia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000954<a name=\"hpo-HP.580000954\"> </a></td><td>Single transverse palmar crease</td></tr><tr><td style=\"white-space:nowrap\">HP:0001182<a name=\"hpo-HP.580001182\"> </a></td><td>Tapered finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0001537<a name=\"hpo-HP.580001537\"> </a></td><td>Umbilical hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002007<a name=\"hpo-HP.580002007\"> </a></td><td>Frontal bossing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002980<a name=\"hpo-HP.580002980\"> </a></td><td>Femoral bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002982<a name=\"hpo-HP.580002982\"> </a></td><td>Tibial bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003021<a name=\"hpo-HP.580003021\"> </a></td><td>Metaphyseal cupping</td></tr><tr><td style=\"white-space:nowrap\">HP:0005011<a name=\"hpo-HP.580005011\"> </a></td><td>Mesomelic arm shortening</td></tr><tr><td style=\"white-space:nowrap\">HP:0008803<a name=\"hpo-HP.580008803\"> </a></td><td>obsolete Narrow sacroiliac notch</td></tr><tr><td style=\"white-space:nowrap\">HP:0009117<a name=\"hpo-HP.580009117\"> </a></td><td>Aplasia/Hypoplasia of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0011220<a name=\"hpo-HP.580011220\"> </a></td><td>Prominent forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0012801<a name=\"hpo-HP.580012801\"> </a></td><td>Narrow jaw</td></tr><tr><td style=\"white-space:nowrap\">HP:0000243<a name=\"hpo-HP.580000243\"> </a></td><td>Trigonocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000358<a name=\"hpo-HP.580000358\"> </a></td><td>Posteriorly rotated ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0000411<a name=\"hpo-HP.580000411\"> </a></td><td>Protruding ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000646<a name=\"hpo-HP.580000646\"> </a></td><td>Amblyopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002812<a name=\"hpo-HP.580002812\"> </a></td><td>Coxa vara</td></tr><tr><td style=\"white-space:nowrap\">HP:0002970<a name=\"hpo-HP.580002970\"> </a></td><td>Genu varum</td></tr><tr><td style=\"white-space:nowrap\">HP:0012775<a name=\"hpo-HP.580012775\"> </a></td><td>Stellate iris</td></tr><tr><td style=\"white-space:nowrap\">HP:0000278<a name=\"hpo-HP.580000278\"> </a></td><td>Retrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0009796<a name=\"hpo-HP.580009796\"> </a></td><td>Branchial cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0002474<a name=\"hpo-HP.580002474\"> </a></td><td>Expressive language delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0007018<a name=\"hpo-HP.580007018\"> </a></td><td>Attention deficit hyperactivity disorder</td></tr><tr><td style=\"white-space:nowrap\">HP:0003198<a name=\"hpo-HP.580003198\"> </a></td><td>Myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003324<a name=\"hpo-HP.580003324\"> </a></td><td>Generalized muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003552<a name=\"hpo-HP.580003552\"> </a></td><td>Muscle stiffness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003554<a name=\"hpo-HP.580003554\"> </a></td><td>Type 2 muscle fiber atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003557<a name=\"hpo-HP.580003557\"> </a></td><td>Increased variability in muscle fiber diameter</td></tr><tr><td style=\"white-space:nowrap\">HP:0009025<a name=\"hpo-HP.580009025\"> </a></td><td>Increased connective tissue</td></tr><tr><td style=\"white-space:nowrap\">HP:0003635<a name=\"hpo-HP.580003635\"> </a></td><td>Loss of subcutaneous adipose tissue in limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002597<a name=\"hpo-HP.580002597\"> </a></td><td>Abnormality of the vasculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0001649<a name=\"hpo-HP.580001649\"> </a></td><td>Tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001638<a name=\"hpo-HP.580001638\"> </a></td><td>Cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001654<a name=\"hpo-HP.580001654\"> </a></td><td>Abnormal heart valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001671<a name=\"hpo-HP.580001671\"> </a></td><td>Abnormal cardiac septum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000103<a name=\"hpo-HP.580000103\"> </a></td><td>Polyuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0000114<a name=\"hpo-HP.580000114\"> </a></td><td>Proximal tubulopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001878<a name=\"hpo-HP.580001878\"> </a></td><td>Hemolytic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001931<a name=\"hpo-HP.580001931\"> </a></td><td>Hypochromic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001935<a name=\"hpo-HP.580001935\"> </a></td><td>Microcytic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001959<a name=\"hpo-HP.580001959\"> </a></td><td>Polydipsia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001994<a name=\"hpo-HP.580001994\"> </a></td><td>Renal Fanconi syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002134<a name=\"hpo-HP.580002134\"> </a></td><td>Abnormality of the basal ganglia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002188<a name=\"hpo-HP.580002188\"> </a></td><td>Delayed CNS myelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0002908<a name=\"hpo-HP.580002908\"> </a></td><td>Conjugated hyperbilirubinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003774<a name=\"hpo-HP.580003774\"> </a></td><td>Stage 5 chronic kidney disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0010700<a name=\"hpo-HP.580010700\"> </a></td><td>obsolete Total cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000193<a name=\"hpo-HP.580000193\"> </a></td><td>Bifid uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000219<a name=\"hpo-HP.580000219\"> </a></td><td>Thin upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000426<a name=\"hpo-HP.580000426\"> </a></td><td>Prominent nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000452<a name=\"hpo-HP.580000452\"> </a></td><td>Choanal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000490<a name=\"hpo-HP.580000490\"> </a></td><td>Deeply set eye</td></tr><tr><td style=\"white-space:nowrap\">HP:0000540<a name=\"hpo-HP.580000540\"> </a></td><td>Hypermetropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000579<a name=\"hpo-HP.580000579\"> </a></td><td>Nasolacrimal duct obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0000684<a name=\"hpo-HP.580000684\"> </a></td><td>Delayed eruption of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000960<a name=\"hpo-HP.580000960\"> </a></td><td>Sacral dimple</td></tr><tr><td style=\"white-space:nowrap\">HP:0000998<a name=\"hpo-HP.580000998\"> </a></td><td>Hypertrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001643<a name=\"hpo-HP.580001643\"> </a></td><td>Patent ductus arteriosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010813<a name=\"hpo-HP.580010813\"> </a></td><td>Abnormal number of hair whorls</td></tr><tr><td style=\"white-space:nowrap\">HP:0012384<a name=\"hpo-HP.580012384\"> </a></td><td>Rhinitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012745<a name=\"hpo-HP.580012745\"> </a></td><td>Short palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000359<a name=\"hpo-HP.580000359\"> </a></td><td>Abnormality of the inner ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000429<a name=\"hpo-HP.580000429\"> </a></td><td>Abnormality of the nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000436<a name=\"hpo-HP.580000436\"> </a></td><td>Abnormality of the nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000499<a name=\"hpo-HP.580000499\"> </a></td><td>Abnormal eyelash morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000534<a name=\"hpo-HP.580000534\"> </a></td><td>Abnormal eyebrow morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000951<a name=\"hpo-HP.580000951\"> </a></td><td>Abnormality of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001000<a name=\"hpo-HP.580001000\"> </a></td><td>Abnormality of skin pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001597<a name=\"hpo-HP.580001597\"> </a></td><td>Abnormality of the nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0006483<a name=\"hpo-HP.580006483\"> </a></td><td>Abnormal number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009929<a name=\"hpo-HP.580009929\"> </a></td><td>Abnormality of the columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0011119<a name=\"hpo-HP.580011119\"> </a></td><td>Abnormality of the nasal dorsum</td></tr><tr><td style=\"white-space:nowrap\">HP:0012808<a name=\"hpo-HP.580012808\"> </a></td><td>Abnormal nasal base</td></tr><tr><td style=\"white-space:nowrap\">HP:0100490<a name=\"hpo-HP.580100490\"> </a></td><td>Camptodactyly of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0000964<a name=\"hpo-HP.580000964\"> </a></td><td>Eczema</td></tr><tr><td style=\"white-space:nowrap\">HP:0004442<a name=\"hpo-HP.580004442\"> </a></td><td>Sagittal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000414<a name=\"hpo-HP.580000414\"> </a></td><td>Bulbous nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0003180<a name=\"hpo-HP.580003180\"> </a></td><td>Flat acetabular roof</td></tr><tr><td style=\"white-space:nowrap\">HP:0000422<a name=\"hpo-HP.580000422\"> </a></td><td>Abnormality of the nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000614<a name=\"hpo-HP.580000614\"> </a></td><td>Abnormal nasolacrimal system morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001167<a name=\"hpo-HP.580001167\"> </a></td><td>Abnormality of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0001595<a name=\"hpo-HP.580001595\"> </a></td><td>Abnormal hair morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012373<a name=\"hpo-HP.580012373\"> </a></td><td>Abnormal eye physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001655<a name=\"hpo-HP.580001655\"> </a></td><td>Patent foramen ovale</td></tr><tr><td style=\"white-space:nowrap\">HP:0001647<a name=\"hpo-HP.580001647\"> </a></td><td>Bicuspid aortic valve</td></tr><tr><td style=\"white-space:nowrap\">HP:0000574<a name=\"hpo-HP.580000574\"> </a></td><td>Thick eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0001169<a name=\"hpo-HP.580001169\"> </a></td><td>Broad palm</td></tr><tr><td style=\"white-space:nowrap\">HP:0006471<a name=\"hpo-HP.580006471\"> </a></td><td>Fixed elbow flexion</td></tr><tr><td style=\"white-space:nowrap\">HP:0008689<a name=\"hpo-HP.580008689\"> </a></td><td>Bilateral cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011304<a name=\"hpo-HP.580011304\"> </a></td><td>Broad thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0005110<a name=\"hpo-HP.580005110\"> </a></td><td>Atrial fibrillation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001633<a name=\"hpo-HP.580001633\"> </a></td><td>Abnormal mitral valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001641<a name=\"hpo-HP.580001641\"> </a></td><td>Abnormal pulmonary valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001702<a name=\"hpo-HP.580001702\"> </a></td><td>Abnormal tricuspid valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000012<a name=\"hpo-HP.580000012\"> </a></td><td>Urinary urgency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000020<a name=\"hpo-HP.580000020\"> </a></td><td>Urinary incontinence</td></tr><tr><td style=\"white-space:nowrap\">HP:0000131<a name=\"hpo-HP.580000131\"> </a></td><td>Uterine leiomyoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000132<a name=\"hpo-HP.580000132\"> </a></td><td>Menorrhagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000138<a name=\"hpo-HP.580000138\"> </a></td><td>Ovarian cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0000853<a name=\"hpo-HP.580000853\"> </a></td><td>Goiter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000953<a name=\"hpo-HP.580000953\"> </a></td><td>Hyperpigmentation of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001061<a name=\"hpo-HP.580001061\"> </a></td><td>Acne</td></tr><tr><td style=\"white-space:nowrap\">HP:0002315<a name=\"hpo-HP.580002315\"> </a></td><td>Headache</td></tr><tr><td style=\"white-space:nowrap\">HP:0004324<a name=\"hpo-HP.580004324\"> </a></td><td>Increased body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000069<a name=\"hpo-HP.580000069\"> </a></td><td>Abnormality of the ureter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000077<a name=\"hpo-HP.580000077\"> </a></td><td>Abnormality of the kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0000759<a name=\"hpo-HP.580000759\"> </a></td><td>Abnormal peripheral nervous system morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008069<a name=\"hpo-HP.580008069\"> </a></td><td>Neoplasm of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011276<a name=\"hpo-HP.580011276\"> </a></td><td>Vascular skin abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000705<a name=\"hpo-HP.580000705\"> </a></td><td>Amelogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">HP:0001256<a name=\"hpo-HP.580001256\"> </a></td><td>Intellectual disability, mild</td></tr><tr><td style=\"white-space:nowrap\">HP:0000325<a name=\"hpo-HP.580000325\"> </a></td><td>Triangular face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000160<a name=\"hpo-HP.580000160\"> </a></td><td>Narrow mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009487<a name=\"hpo-HP.580009487\"> </a></td><td>Ulnar deviation of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0001249<a name=\"hpo-HP.580001249\"> </a></td><td>Intellectual disability</td></tr><tr><td style=\"white-space:nowrap\">HP:0008064<a name=\"hpo-HP.580008064\"> </a></td><td>Ichthyosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000311<a name=\"hpo-HP.580000311\"> </a></td><td>Round face</td></tr><tr><td style=\"white-space:nowrap\">HP:0001653<a name=\"hpo-HP.580001653\"> </a></td><td>Mitral regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001771<a name=\"hpo-HP.580001771\"> </a></td><td>Achilles tendon contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0012032<a name=\"hpo-HP.580012032\"> </a></td><td>Lipoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0012368<a name=\"hpo-HP.580012368\"> </a></td><td>Flat face</td></tr><tr><td style=\"white-space:nowrap\">HP:0030053<a name=\"hpo-HP.580030053\"> </a></td><td>Stiff skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011124<a name=\"hpo-HP.580011124\"> </a></td><td>Abnormality of epidermal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011097<a name=\"hpo-HP.580011097\"> </a></td><td>Epileptic spasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000407<a name=\"hpo-HP.580000407\"> </a></td><td>Sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000331<a name=\"hpo-HP.580000331\"> </a></td><td>Short chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000340<a name=\"hpo-HP.580000340\"> </a></td><td>Sloping forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0000486<a name=\"hpo-HP.580000486\"> </a></td><td>Strabismus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000713<a name=\"hpo-HP.580000713\"> </a></td><td>Agitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000802<a name=\"hpo-HP.580000802\"> </a></td><td>Impotence</td></tr><tr><td style=\"white-space:nowrap\">HP:0001272<a name=\"hpo-HP.580001272\"> </a></td><td>Cerebellar atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001276<a name=\"hpo-HP.580001276\"> </a></td><td>Hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001321<a name=\"hpo-HP.580001321\"> </a></td><td>Cerebellar hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001322<a name=\"hpo-HP.580001322\"> </a></td><td>obsolete Brain very small</td></tr><tr><td style=\"white-space:nowrap\">HP:0002061<a name=\"hpo-HP.580002061\"> </a></td><td>Lower limb spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002529<a name=\"hpo-HP.580002529\"> </a></td><td>Neuronal loss in central nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002540<a name=\"hpo-HP.580002540\"> </a></td><td>Inability to walk</td></tr><tr><td style=\"white-space:nowrap\">HP:0005484<a name=\"hpo-HP.580005484\"> </a></td><td>Postnatal microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0012850<a name=\"hpo-HP.580012850\"> </a></td><td>Small intestinal dysmotility</td></tr><tr><td style=\"white-space:nowrap\">HP:0000504<a name=\"hpo-HP.580000504\"> </a></td><td>Abnormality of vision</td></tr><tr><td style=\"white-space:nowrap\">HP:0002118<a name=\"hpo-HP.580002118\"> </a></td><td>Abnormality of the cerebral ventricles</td></tr><tr><td style=\"white-space:nowrap\">HP:0002363<a name=\"hpo-HP.580002363\"> </a></td><td>Abnormality of brainstem morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0010651<a name=\"hpo-HP.580010651\"> </a></td><td>Abnormal meningeal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100024<a name=\"hpo-HP.580100024\"> </a></td><td>Conspicuously happy disposition</td></tr><tr><td style=\"white-space:nowrap\">HP:0002538<a name=\"hpo-HP.580002538\"> </a></td><td>Abnormality of the cerebral cortex</td></tr><tr><td style=\"white-space:nowrap\">HP:0000054<a name=\"hpo-HP.580000054\"> </a></td><td>Micropenis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000215<a name=\"hpo-HP.580000215\"> </a></td><td>Thick upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000293<a name=\"hpo-HP.580000293\"> </a></td><td>Full cheeks</td></tr><tr><td style=\"white-space:nowrap\">HP:0000349<a name=\"hpo-HP.580000349\"> </a></td><td>Widow's peak</td></tr><tr><td style=\"white-space:nowrap\">HP:0000444<a name=\"hpo-HP.580000444\"> </a></td><td>Convex nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000506<a name=\"hpo-HP.580000506\"> </a></td><td>Telecanthus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000592<a name=\"hpo-HP.580000592\"> </a></td><td>Blue sclerae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000691<a name=\"hpo-HP.580000691\"> </a></td><td>Microdontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000698<a name=\"hpo-HP.580000698\"> </a></td><td>Conical tooth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002000<a name=\"hpo-HP.580002000\"> </a></td><td>Short columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0002097<a name=\"hpo-HP.580002097\"> </a></td><td>Emphysema</td></tr><tr><td style=\"white-space:nowrap\">HP:0002209<a name=\"hpo-HP.580002209\"> </a></td><td>Sparse scalp hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002816<a name=\"hpo-HP.580002816\"> </a></td><td>Genu recurvatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0005116<a name=\"hpo-HP.580005116\"> </a></td><td>Arterial tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0007957<a name=\"hpo-HP.580007957\"> </a></td><td>Corneal opacity</td></tr><tr><td style=\"white-space:nowrap\">HP:0008070<a name=\"hpo-HP.580008070\"> </a></td><td>Sparse hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0009623<a name=\"hpo-HP.580009623\"> </a></td><td>Proximal placement of thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0010055<a name=\"hpo-HP.580010055\"> </a></td><td>Broad hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0011318<a name=\"hpo-HP.580011318\"> </a></td><td>Bicoronal synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011968<a name=\"hpo-HP.580011968\"> </a></td><td>Feeding difficulties</td></tr><tr><td style=\"white-space:nowrap\">HP:0200067<a name=\"hpo-HP.580200067\"> </a></td><td>Recurrent spontaneous abortion</td></tr><tr><td style=\"white-space:nowrap\">HP:0011819<a name=\"hpo-HP.580011819\"> </a></td><td>Submucous cleft soft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000268<a name=\"hpo-HP.580000268\"> </a></td><td>Dolichocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0003302<a name=\"hpo-HP.580003302\"> </a></td><td>Spondylolisthesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000582<a name=\"hpo-HP.580000582\"> </a></td><td>Upslanted palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000952<a name=\"hpo-HP.580000952\"> </a></td><td>Jaundice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001298<a name=\"hpo-HP.580001298\"> </a></td><td>Encephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001396<a name=\"hpo-HP.580001396\"> </a></td><td>Cholestasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002059<a name=\"hpo-HP.580002059\"> </a></td><td>Cerebral atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002171<a name=\"hpo-HP.580002171\"> </a></td><td>Gliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002240<a name=\"hpo-HP.580002240\"> </a></td><td>Hepatomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002353<a name=\"hpo-HP.580002353\"> </a></td><td>EEG abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0002446<a name=\"hpo-HP.580002446\"> </a></td><td>Astrocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003287<a name=\"hpo-HP.580003287\"> </a></td><td>Abnormality of mitochondrial metabolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011449<a name=\"hpo-HP.580011449\"> </a></td><td>Knee clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012852<a name=\"hpo-HP.580012852\"> </a></td><td>Hepatic bridging fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100626<a name=\"hpo-HP.580100626\"> </a></td><td>Chronic hepatic failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000385<a name=\"hpo-HP.580000385\"> </a></td><td>Small earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0009748<a name=\"hpo-HP.580009748\"> </a></td><td>Large earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000157<a name=\"hpo-HP.580000157\"> </a></td><td>Abnormality of the tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0000172<a name=\"hpo-HP.580000172\"> </a></td><td>Abnormality of the uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000174<a name=\"hpo-HP.580000174\"> </a></td><td>Abnormal palate morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000306<a name=\"hpo-HP.580000306\"> </a></td><td>Abnormality of the chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0004408<a name=\"hpo-HP.580004408\"> </a></td><td>Abnormality of the sense of smell</td></tr><tr><td style=\"white-space:nowrap\">HP:0009912<a name=\"hpo-HP.580009912\"> </a></td><td>Abnormality of the tragus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000537<a name=\"hpo-HP.580000537\"> </a></td><td>Epicanthus inversus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000565<a name=\"hpo-HP.580000565\"> </a></td><td>Esotropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000752<a name=\"hpo-HP.580000752\"> </a></td><td>Hyperactivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003186<a name=\"hpo-HP.580003186\"> </a></td><td>Inverted nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0012503<a name=\"hpo-HP.580012503\"> </a></td><td>Abnormality of the pituitary gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0100710<a name=\"hpo-HP.580100710\"> </a></td><td>Impulsivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000357<a name=\"hpo-HP.580000357\"> </a></td><td>Abnormal location of ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0000820<a name=\"hpo-HP.580000820\"> </a></td><td>Abnormality of the thyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000828<a name=\"hpo-HP.580000828\"> </a></td><td>Abnormality of the parathyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000834<a name=\"hpo-HP.580000834\"> </a></td><td>Abnormality of the adrenal glands</td></tr><tr><td style=\"white-space:nowrap\">HP:0012093<a name=\"hpo-HP.580012093\"> </a></td><td>Abnormality of endocrine pancreas physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000269<a name=\"hpo-HP.580000269\"> </a></td><td>Prominent occiput</td></tr><tr><td style=\"white-space:nowrap\">HP:0000535<a name=\"hpo-HP.580000535\"> </a></td><td>Sparse and thin eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000639<a name=\"hpo-HP.580000639\"> </a></td><td>Nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000718<a name=\"hpo-HP.580000718\"> </a></td><td>Aggressive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000957<a name=\"hpo-HP.580000957\"> </a></td><td>Cafe-au-lait spot</td></tr><tr><td style=\"white-space:nowrap\">HP:0000256<a name=\"hpo-HP.580000256\"> </a></td><td>Macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000750<a name=\"hpo-HP.580000750\"> </a></td><td>Delayed speech and language development</td></tr><tr><td style=\"white-space:nowrap\">HP:0000963<a name=\"hpo-HP.580000963\"> </a></td><td>Thin skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001260<a name=\"hpo-HP.580001260\"> </a></td><td>Dysarthria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002194<a name=\"hpo-HP.580002194\"> </a></td><td>Delayed gross motor development</td></tr><tr><td style=\"white-space:nowrap\">HP:0003196<a name=\"hpo-HP.580003196\"> </a></td><td>Short nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0001155<a name=\"hpo-HP.580001155\"> </a></td><td>Abnormality of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0100022<a name=\"hpo-HP.580100022\"> </a></td><td>Abnormality of movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010862<a name=\"hpo-HP.580010862\"> </a></td><td>Delayed fine motor development</td></tr><tr><td style=\"white-space:nowrap\">HP:0000343<a name=\"hpo-HP.580000343\"> </a></td><td>Long philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000717<a name=\"hpo-HP.580000717\"> </a></td><td>Autism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001883<a name=\"hpo-HP.580001883\"> </a></td><td>Talipes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002553<a name=\"hpo-HP.580002553\"> </a></td><td>Highly arched eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0007488<a name=\"hpo-HP.580007488\"> </a></td><td>Diffuse skin atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000822<a name=\"hpo-HP.580000822\"> </a></td><td>Hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001278<a name=\"hpo-HP.580001278\"> </a></td><td>Orthostatic hypotension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001944<a name=\"hpo-HP.580001944\"> </a></td><td>Dehydration</td></tr><tr><td style=\"white-space:nowrap\">HP:0001945<a name=\"hpo-HP.580001945\"> </a></td><td>Fever</td></tr><tr><td style=\"white-space:nowrap\">HP:0002019<a name=\"hpo-HP.580002019\"> </a></td><td>Constipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002020<a name=\"hpo-HP.580002020\"> </a></td><td>Gastroesophageal reflux</td></tr><tr><td style=\"white-space:nowrap\">HP:0002027<a name=\"hpo-HP.580002027\"> </a></td><td>Abdominal pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0002718<a name=\"hpo-HP.580002718\"> </a></td><td>Recurrent bacterial infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0002841<a name=\"hpo-HP.580002841\"> </a></td><td>Recurrent fungal infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0004395<a name=\"hpo-HP.580004395\"> </a></td><td>Malnutrition</td></tr><tr><td style=\"white-space:nowrap\">HP:0009830<a name=\"hpo-HP.580009830\"> </a></td><td>Peripheral neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000126<a name=\"hpo-HP.580000126\"> </a></td><td>Hydronephrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000519<a name=\"hpo-HP.580000519\"> </a></td><td>Developmental cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000648<a name=\"hpo-HP.580000648\"> </a></td><td>Optic atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001053<a name=\"hpo-HP.580001053\"> </a></td><td>Hypopigmented skin patches</td></tr><tr><td style=\"white-space:nowrap\">HP:0001087<a name=\"hpo-HP.580001087\"> </a></td><td>Developmental glaucoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0002119<a name=\"hpo-HP.580002119\"> </a></td><td>Ventriculomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002280<a name=\"hpo-HP.580002280\"> </a></td><td>Enlarged cisterna magna</td></tr><tr><td style=\"white-space:nowrap\">HP:0003298<a name=\"hpo-HP.580003298\"> </a></td><td>Spina bifida occulta</td></tr><tr><td style=\"white-space:nowrap\">HP:0004467<a name=\"hpo-HP.580004467\"> </a></td><td>Preauricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0008511<a name=\"hpo-HP.580008511\"> </a></td><td>Central posterior corneal opacity</td></tr><tr><td style=\"white-space:nowrap\">HP:0010780<a name=\"hpo-HP.580010780\"> </a></td><td>Hyperacusis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030048<a name=\"hpo-HP.580030048\"> </a></td><td>Colpocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0100335<a name=\"hpo-HP.580100335\"> </a></td><td>Non-midline cleft lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000525<a name=\"hpo-HP.580000525\"> </a></td><td>Abnormality iris morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002719<a name=\"hpo-HP.580002719\"> </a></td><td>Recurrent infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0000153<a name=\"hpo-HP.580000153\"> </a></td><td>Abnormality of the mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001903<a name=\"hpo-HP.580001903\"> </a></td><td>Anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002094<a name=\"hpo-HP.580002094\"> </a></td><td>Dyspnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002206<a name=\"hpo-HP.580002206\"> </a></td><td>Pulmonary fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002789<a name=\"hpo-HP.580002789\"> </a></td><td>Tachypnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002793<a name=\"hpo-HP.580002793\"> </a></td><td>Abnormal pattern of respiration</td></tr><tr><td style=\"white-space:nowrap\">HP:0003565<a name=\"hpo-HP.580003565\"> </a></td><td>Elevated erythrocyte sedimentation rate</td></tr><tr><td style=\"white-space:nowrap\">HP:0006517<a name=\"hpo-HP.580006517\"> </a></td><td>Intraalveolar phospholipid accumulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0006530<a name=\"hpo-HP.580006530\"> </a></td><td>Interstitial pulmonary abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0100759<a name=\"hpo-HP.580100759\"> </a></td><td>Clubbing of fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0002103<a name=\"hpo-HP.580002103\"> </a></td><td>Abnormal pleura morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001596<a name=\"hpo-HP.580001596\"> </a></td><td>Alopecia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001882<a name=\"hpo-HP.580001882\"> </a></td><td>Leukopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002013<a name=\"hpo-HP.580002013\"> </a></td><td>Vomiting</td></tr><tr><td style=\"white-space:nowrap\">HP:0002028<a name=\"hpo-HP.580002028\"> </a></td><td>Chronic diarrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002573<a name=\"hpo-HP.580002573\"> </a></td><td>Hematochezia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002960<a name=\"hpo-HP.580002960\"> </a></td><td>Autoimmunity</td></tr><tr><td style=\"white-space:nowrap\">HP:0005387<a name=\"hpo-HP.580005387\"> </a></td><td>Combined immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0011109<a name=\"hpo-HP.580011109\"> </a></td><td>Chronic sinusitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004429<a name=\"hpo-HP.580004429\"> </a></td><td>Recurrent viral infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0000280<a name=\"hpo-HP.580000280\"> </a></td><td>Coarse facial features</td></tr><tr><td style=\"white-space:nowrap\">HP:0000294<a name=\"hpo-HP.580000294\"> </a></td><td>Low anterior hairline</td></tr><tr><td style=\"white-space:nowrap\">HP:0000577<a name=\"hpo-HP.580000577\"> </a></td><td>Exotropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001873<a name=\"hpo-HP.580001873\"> </a></td><td>Thrombocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002011<a name=\"hpo-HP.580002011\"> </a></td><td>Morphological central nervous system abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0006610<a name=\"hpo-HP.580006610\"> </a></td><td>Wide intermamillary distance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011231<a name=\"hpo-HP.580011231\"> </a></td><td>Prominent eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0012718<a name=\"hpo-HP.580012718\"> </a></td><td>Morphological abnormality of the gastrointestinal tract</td></tr><tr><td style=\"white-space:nowrap\">HP:0002024<a name=\"hpo-HP.580002024\"> </a></td><td>Malabsorption</td></tr><tr><td style=\"white-space:nowrap\">HP:0001394<a name=\"hpo-HP.580001394\"> </a></td><td>Cirrhosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001414<a name=\"hpo-HP.580001414\"> </a></td><td>Microvesicular hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001403<a name=\"hpo-HP.580001403\"> </a></td><td>Macrovesicular hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001410<a name=\"hpo-HP.580001410\"> </a></td><td>Decreased liver function</td></tr><tr><td style=\"white-space:nowrap\">HP:0001409<a name=\"hpo-HP.580001409\"> </a></td><td>Portal hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001744<a name=\"hpo-HP.580001744\"> </a></td><td>Splenomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0003394<a name=\"hpo-HP.580003394\"> </a></td><td>Muscle spasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003750<a name=\"hpo-HP.580003750\"> </a></td><td>Increased muscle fatiguability</td></tr><tr><td style=\"white-space:nowrap\">HP:0002123<a name=\"hpo-HP.580002123\"> </a></td><td>Generalized myoclonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0002219<a name=\"hpo-HP.580002219\"> </a></td><td>Facial hypertrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000831<a name=\"hpo-HP.580000831\"> </a></td><td>Insulin-resistant diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001891<a name=\"hpo-HP.580001891\"> </a></td><td>Iron deficiency anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001264<a name=\"hpo-HP.580001264\"> </a></td><td>Spastic diplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002313<a name=\"hpo-HP.580002313\"> </a></td><td>Spastic paraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001347<a name=\"hpo-HP.580001347\"> </a></td><td>Hyperreflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002460<a name=\"hpo-HP.580002460\"> </a></td><td>Distal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000763<a name=\"hpo-HP.580000763\"> </a></td><td>Sensory neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001268<a name=\"hpo-HP.580001268\"> </a></td><td>Mental deterioration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002169<a name=\"hpo-HP.580002169\"> </a></td><td>Clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001332<a name=\"hpo-HP.580001332\"> </a></td><td>Dystonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100716<a name=\"hpo-HP.580100716\"> </a></td><td>Self-injurious behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000602<a name=\"hpo-HP.580000602\"> </a></td><td>Ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001251<a name=\"hpo-HP.580001251\"> </a></td><td>Ataxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000776<a name=\"hpo-HP.580000776\"> </a></td><td>Congenital diaphragmatic hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000410<a name=\"hpo-HP.580000410\"> </a></td><td>Mixed hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000510<a name=\"hpo-HP.580000510\"> </a></td><td>Rod-cone dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0004437<a name=\"hpo-HP.580004437\"> </a></td><td>Cranial hyperostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011001<a name=\"hpo-HP.580011001\"> </a></td><td>Increased bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0000956<a name=\"hpo-HP.580000956\"> </a></td><td>Acanthosis nigricans</td></tr><tr><td style=\"white-space:nowrap\">HP:0000958<a name=\"hpo-HP.580000958\"> </a></td><td>Dry skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000580<a name=\"hpo-HP.580000580\"> </a></td><td>Pigmentary retinopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000649<a name=\"hpo-HP.580000649\"> </a></td><td>Abnormality of visual evoked potentials</td></tr><tr><td style=\"white-space:nowrap\">HP:0000657<a name=\"hpo-HP.580000657\"> </a></td><td>Oculomotor apraxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000479<a name=\"hpo-HP.580000479\"> </a></td><td>Abnormal retinal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001317<a name=\"hpo-HP.580001317\"> </a></td><td>Abnormal cerebellum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001533<a name=\"hpo-HP.580001533\"> </a></td><td>Slender build</td></tr><tr><td style=\"white-space:nowrap\">HP:0001629<a name=\"hpo-HP.580001629\"> </a></td><td>Ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0000703<a name=\"hpo-HP.580000703\"> </a></td><td>Dentinogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">HP:0000914<a name=\"hpo-HP.580000914\"> </a></td><td>Shield chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0001500<a name=\"hpo-HP.580001500\"> </a></td><td>Broad finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0003086<a name=\"hpo-HP.580003086\"> </a></td><td>Acromesomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003416<a name=\"hpo-HP.580003416\"> </a></td><td>Spinal canal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002815<a name=\"hpo-HP.580002815\"> </a></td><td>Abnormality of the knee</td></tr><tr><td style=\"white-space:nowrap\">HP:0002992<a name=\"hpo-HP.580002992\"> </a></td><td>Abnormality of tibia morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001639<a name=\"hpo-HP.580001639\"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003236<a name=\"hpo-HP.580003236\"> </a></td><td>Elevated serum creatine kinase</td></tr><tr><td style=\"white-space:nowrap\">HP:0001369<a name=\"hpo-HP.580001369\"> </a></td><td>Arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003560<a name=\"hpo-HP.580003560\"> </a></td><td>Muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003974<a name=\"hpo-HP.580003974\"> </a></td><td>Absent radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0002818<a name=\"hpo-HP.580002818\"> </a></td><td>Abnormality of the radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0001561<a name=\"hpo-HP.580001561\"> </a></td><td>Polyhydramnios</td></tr><tr><td style=\"white-space:nowrap\">HP:0002299<a name=\"hpo-HP.580002299\"> </a></td><td>Brittle hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002208<a name=\"hpo-HP.580002208\"> </a></td><td>Coarse hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002213<a name=\"hpo-HP.580002213\"> </a></td><td>Fine hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000522<a name=\"hpo-HP.580000522\"> </a></td><td>Alacrima</td></tr><tr><td style=\"white-space:nowrap\">HP:0100704<a name=\"hpo-HP.580100704\"> </a></td><td>Cerebral visual impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0012713<a name=\"hpo-HP.580012713\"> </a></td><td>Moderate hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002307<a name=\"hpo-HP.580002307\"> </a></td><td>Drooling</td></tr><tr><td style=\"white-space:nowrap\">HP:0002714<a name=\"hpo-HP.580002714\"> </a></td><td>Downturned corners of mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000191<a name=\"hpo-HP.580000191\"> </a></td><td>Accessory oral frenulum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000158<a name=\"hpo-HP.580000158\"> </a></td><td>Macroglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012020<a name=\"hpo-HP.580012020\"> </a></td><td>Right aortic arch</td></tr><tr><td style=\"white-space:nowrap\">HP:0002104<a name=\"hpo-HP.580002104\"> </a></td><td>Apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0000598<a name=\"hpo-HP.580000598\"> </a></td><td>Abnormality of the ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0007874<a name=\"hpo-HP.580007874\"> </a></td><td>Almond-shaped palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0010804<a name=\"hpo-HP.580010804\"> </a></td><td>Tented upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000885<a name=\"hpo-HP.580000885\"> </a></td><td>Broad ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000768<a name=\"hpo-HP.580000768\"> </a></td><td>Pectus carinatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001680<a name=\"hpo-HP.580001680\"> </a></td><td>Coarctation of aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0000687<a name=\"hpo-HP.580000687\"> </a></td><td>Widely spaced teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000047<a name=\"hpo-HP.580000047\"> </a></td><td>Hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0001943<a name=\"hpo-HP.580001943\"> </a></td><td>Hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012369<a name=\"hpo-HP.580012369\"> </a></td><td>Abnormality of malar bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0009900<a name=\"hpo-HP.580009900\"> </a></td><td>Unilateral deafness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000023<a name=\"hpo-HP.580000023\"> </a></td><td>Inguinal hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000074<a name=\"hpo-HP.580000074\"> </a></td><td>Ureteropelvic junction obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001800<a name=\"hpo-HP.580001800\"> </a></td><td>Hypoplastic toenails</td></tr><tr><td style=\"white-space:nowrap\">HP:0001804<a name=\"hpo-HP.580001804\"> </a></td><td>Hypoplastic fingernail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002949<a name=\"hpo-HP.580002949\"> </a></td><td>Fused cervical vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0008050<a name=\"hpo-HP.580008050\"> </a></td><td>Abnormality of the palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0008577<a name=\"hpo-HP.580008577\"> </a></td><td>Underfolded helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0008589<a name=\"hpo-HP.580008589\"> </a></td><td>Hypoplastic helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0010863<a name=\"hpo-HP.580010863\"> </a></td><td>Receptive language delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0002282<a name=\"hpo-HP.580002282\"> </a></td><td>Gray matter heterotopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002085<a name=\"hpo-HP.580002085\"> </a></td><td>Occipital encephalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0001057<a name=\"hpo-HP.580001057\"> </a></td><td>Aplasia cutis congenita</td></tr><tr><td style=\"white-space:nowrap\">HP:0000211<a name=\"hpo-HP.580000211\"> </a></td><td>Trismus</td></tr><tr><td style=\"white-space:nowrap\">HP:0008422<a name=\"hpo-HP.580008422\"> </a></td><td>Vertebral wedging</td></tr><tr><td style=\"white-space:nowrap\">HP:0003170<a name=\"hpo-HP.580003170\"> </a></td><td>Abnormality of the acetabulum</td></tr><tr><td style=\"white-space:nowrap\">HP:0003272<a name=\"hpo-HP.580003272\"> </a></td><td>Abnormality of the hip bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0003028<a name=\"hpo-HP.580003028\"> </a></td><td>Abnormality of the ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0003301<a name=\"hpo-HP.580003301\"> </a></td><td>Irregular vertebral endplates</td></tr><tr><td style=\"white-space:nowrap\">HP:0010508<a name=\"hpo-HP.580010508\"> </a></td><td>Metatarsus valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0009811<a name=\"hpo-HP.580009811\"> </a></td><td>Abnormality of the elbow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000736<a name=\"hpo-HP.580000736\"> </a></td><td>Short attention span</td></tr><tr><td style=\"white-space:nowrap\">HP:0002912<a name=\"hpo-HP.580002912\"> </a></td><td>Methylmalonic acidemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001941<a name=\"hpo-HP.580001941\"> </a></td><td>Acidosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001992<a name=\"hpo-HP.580001992\"> </a></td><td>Organic aciduria</td></tr><tr><td style=\"white-space:nowrap\">HP:0009027<a name=\"hpo-HP.580009027\"> </a></td><td>Foot dorsiflexor weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002063<a name=\"hpo-HP.580002063\"> </a></td><td>Rigidity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000384<a name=\"hpo-HP.580000384\"> </a></td><td>Preauricular skin tag</td></tr><tr><td style=\"white-space:nowrap\">HP:0200046<a name=\"hpo-HP.580200046\"> </a></td><td>Cat cry</td></tr><tr><td style=\"white-space:nowrap\">HP:0001357<a name=\"hpo-HP.580001357\"> </a></td><td>Plagiocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000670<a name=\"hpo-HP.580000670\"> </a></td><td>Carious teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0011090<a name=\"hpo-HP.580011090\"> </a></td><td>Fused teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0012810<a name=\"hpo-HP.580012810\"> </a></td><td>Wide nasal base</td></tr><tr><td style=\"white-space:nowrap\">HP:0010296<a name=\"hpo-HP.580010296\"> </a></td><td>Ankyloglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001636<a name=\"hpo-HP.580001636\"> </a></td><td>Tetralogy of Fallot</td></tr><tr><td style=\"white-space:nowrap\">HP:0001305<a name=\"hpo-HP.580001305\"> </a></td><td>Dandy-Walker malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000238<a name=\"hpo-HP.580000238\"> </a></td><td>Hydrocephalus</td></tr><tr><td style=\"white-space:nowrap\">HP:0005469<a name=\"hpo-HP.580005469\"> </a></td><td>Flat occiput</td></tr><tr><td style=\"white-space:nowrap\">HP:0000270<a name=\"hpo-HP.580000270\"> </a></td><td>Delayed cranial suture closure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000239<a name=\"hpo-HP.580000239\"> </a></td><td>Large fontanelles</td></tr><tr><td style=\"white-space:nowrap\">HP:0010537<a name=\"hpo-HP.580010537\"> </a></td><td>Wide cranial sutures</td></tr><tr><td style=\"white-space:nowrap\">HP:0002217<a name=\"hpo-HP.580002217\"> </a></td><td>Slow-growing hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000587<a name=\"hpo-HP.580000587\"> </a></td><td>Abnormality of the optic nerve</td></tr><tr><td style=\"white-space:nowrap\">HP:0005989<a name=\"hpo-HP.580005989\"> </a></td><td>Redundant neck skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010775<a name=\"hpo-HP.580010775\"> </a></td><td>Vascular ring</td></tr><tr><td style=\"white-space:nowrap\">HP:0002779<a name=\"hpo-HP.580002779\"> </a></td><td>Tracheomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002827<a name=\"hpo-HP.580002827\"> </a></td><td>Hip dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001302<a name=\"hpo-HP.580001302\"> </a></td><td>Pachygyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0007362<a name=\"hpo-HP.580007362\"> </a></td><td>Aplasia/Hypoplasia of the brainstem</td></tr><tr><td style=\"white-space:nowrap\">HP:0001558<a name=\"hpo-HP.580001558\"> </a></td><td>Decreased fetal movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010878<a name=\"hpo-HP.580010878\"> </a></td><td>Fetal cystic hygroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0011398<a name=\"hpo-HP.580011398\"> </a></td><td>Central hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002071<a name=\"hpo-HP.580002071\"> </a></td><td>Abnormality of extrapyramidal motor function</td></tr><tr><td style=\"white-space:nowrap\">HP:0000826<a name=\"hpo-HP.580000826\"> </a></td><td>Precocious puberty</td></tr><tr><td style=\"white-space:nowrap\">HP:0000014<a name=\"hpo-HP.580000014\"> </a></td><td>Abnormality of the bladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0005037<a name=\"hpo-HP.580005037\"> </a></td><td>Proximal radio-ulnar synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100543<a name=\"hpo-HP.580100543\"> </a></td><td>Cognitive impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000481<a name=\"hpo-HP.580000481\"> </a></td><td>Abnormal cornea morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000076<a name=\"hpo-HP.580000076\"> </a></td><td>Vesicoureteral reflux</td></tr><tr><td style=\"white-space:nowrap\">HP:0000297<a name=\"hpo-HP.580000297\"> </a></td><td>Facial hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000391<a name=\"hpo-HP.580000391\"> </a></td><td>Thickened helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0001162<a name=\"hpo-HP.580001162\"> </a></td><td>Postaxial hand polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001385<a name=\"hpo-HP.580001385\"> </a></td><td>Hip dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002342<a name=\"hpo-HP.580002342\"> </a></td><td>Intellectual disability, moderate</td></tr><tr><td style=\"white-space:nowrap\">HP:0003191<a name=\"hpo-HP.580003191\"> </a></td><td>Cleft ala nasi</td></tr><tr><td style=\"white-space:nowrap\">HP:0009765<a name=\"hpo-HP.580009765\"> </a></td><td>Low hanging columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0010297<a name=\"hpo-HP.580010297\"> </a></td><td>Bifid tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0011330<a name=\"hpo-HP.580011330\"> </a></td><td>Metopic synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012804<a name=\"hpo-HP.580012804\"> </a></td><td>Corneal ulceration</td></tr><tr><td style=\"white-space:nowrap\">HP:0010485<a name=\"hpo-HP.580010485\"> </a></td><td>Hyperextensibility at elbow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000609<a name=\"hpo-HP.580000609\"> </a></td><td>Optic nerve hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001176<a name=\"hpo-HP.580001176\"> </a></td><td>Large hands</td></tr><tr><td style=\"white-space:nowrap\">HP:0004233<a name=\"hpo-HP.580004233\"> </a></td><td>Advanced ossification of carpal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0100842<a name=\"hpo-HP.580100842\"> </a></td><td>Septo-optic dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002034<a name=\"hpo-HP.580002034\"> </a></td><td>Abnormality of the rectum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002283<a name=\"hpo-HP.580002283\"> </a></td><td>Global brain atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003115<a name=\"hpo-HP.580003115\"> </a></td><td>Abnormal EKG</td></tr><tr><td style=\"white-space:nowrap\">HP:0002577<a name=\"hpo-HP.580002577\"> </a></td><td>Abnormal stomach morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002539<a name=\"hpo-HP.580002539\"> </a></td><td>Cortical dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006818<a name=\"hpo-HP.580006818\"> </a></td><td>4-layered lissencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000593<a name=\"hpo-HP.580000593\"> </a></td><td>Abnormal anterior chamber morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000179<a name=\"hpo-HP.580000179\"> </a></td><td>Thick lower lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002002<a name=\"hpo-HP.580002002\"> </a></td><td>Deep philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0009931<a name=\"hpo-HP.580009931\"> </a></td><td>Enlarged naris</td></tr><tr><td style=\"white-space:nowrap\">HP:0002948<a name=\"hpo-HP.580002948\"> </a></td><td>Vertebral fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002937<a name=\"hpo-HP.580002937\"> </a></td><td>Hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0002308<a name=\"hpo-HP.580002308\"> </a></td><td>Arnold-Chiari malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011320<a name=\"hpo-HP.580011320\"> </a></td><td>Unilambdoid synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002781<a name=\"hpo-HP.580002781\"> </a></td><td>Upper airway obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001363<a name=\"hpo-HP.580001363\"> </a></td><td>Craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000204<a name=\"hpo-HP.580000204\"> </a></td><td>Cleft upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001738<a name=\"hpo-HP.580001738\"> </a></td><td>Exocrine pancreatic insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002823<a name=\"hpo-HP.580002823\"> </a></td><td>Abnormality of femur morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000823<a name=\"hpo-HP.580000823\"> </a></td><td>Delayed puberty</td></tr><tr><td style=\"white-space:nowrap\">HP:0100279<a name=\"hpo-HP.580100279\"> </a></td><td>Ulcerative colitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003834<a name=\"hpo-HP.580003834\"> </a></td><td>Shoulder dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001065<a name=\"hpo-HP.580001065\"> </a></td><td>Striae distensae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000448<a name=\"hpo-HP.580000448\"> </a></td><td>Prominent nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0000554<a name=\"hpo-HP.580000554\"> </a></td><td>Uveitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001006<a name=\"hpo-HP.580001006\"> </a></td><td>obsolete Hypotrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000501<a name=\"hpo-HP.580000501\"> </a></td><td>Glaucoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000262<a name=\"hpo-HP.580000262\"> </a></td><td>Turricephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000729<a name=\"hpo-HP.580000729\"> </a></td><td>Autistic behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0010800<a name=\"hpo-HP.580010800\"> </a></td><td>Absent cupid's bow</td></tr><tr><td style=\"white-space:nowrap\">HP:0010808<a name=\"hpo-HP.580010808\"> </a></td><td>Protruding tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0009927<a name=\"hpo-HP.580009927\"> </a></td><td>Aplasia of the nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0100539<a name=\"hpo-HP.580100539\"> </a></td><td>Periorbital edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000629<a name=\"hpo-HP.580000629\"> </a></td><td>Periorbital fullness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000178<a name=\"hpo-HP.580000178\"> </a></td><td>Abnormality of lower lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000168<a name=\"hpo-HP.580000168\"> </a></td><td>Abnormality of the gingiva</td></tr><tr><td style=\"white-space:nowrap\">HP:0001022<a name=\"hpo-HP.580001022\"> </a></td><td>Albinism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000177<a name=\"hpo-HP.580000177\"> </a></td><td>Abnormality of upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001337<a name=\"hpo-HP.580001337\"> </a></td><td>Tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002135<a name=\"hpo-HP.580002135\"> </a></td><td>Basal ganglia calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0002352<a name=\"hpo-HP.580002352\"> </a></td><td>Leukoencephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002514<a name=\"hpo-HP.580002514\"> </a></td><td>Cerebral calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0010576<a name=\"hpo-HP.580010576\"> </a></td><td>Intracranial cystic lesion</td></tr><tr><td style=\"white-space:nowrap\">HP:0001622<a name=\"hpo-HP.580001622\"> </a></td><td>Premature birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002415<a name=\"hpo-HP.580002415\"> </a></td><td>Leukodystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001320<a name=\"hpo-HP.580001320\"> </a></td><td>Cerebellar vermis hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001773<a name=\"hpo-HP.580001773\"> </a></td><td>Short foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0002750<a name=\"hpo-HP.580002750\"> </a></td><td>Delayed skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004415<a name=\"hpo-HP.580004415\"> </a></td><td>Pulmonary artery stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012741<a name=\"hpo-HP.580012741\"> </a></td><td>Unilateral cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000036<a name=\"hpo-HP.580000036\"> </a></td><td>Abnormality of the penis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002408<a name=\"hpo-HP.580002408\"> </a></td><td>Cerebral arteriovenous malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0007457<a name=\"hpo-HP.580007457\"> </a></td><td>Prominent veins on trunk</td></tr><tr><td style=\"white-space:nowrap\">HP:0000378<a name=\"hpo-HP.580000378\"> </a></td><td>Cupped ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000396<a name=\"hpo-HP.580000396\"> </a></td><td>Overfolded helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000035<a name=\"hpo-HP.580000035\"> </a></td><td>Abnormal testis morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009895<a name=\"hpo-HP.580009895\"> </a></td><td>Abnormality of the crus of the helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000034<a name=\"hpo-HP.580000034\"> </a></td><td>Hydrocele testis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000722<a name=\"hpo-HP.580000722\"> </a></td><td>Obsessive-compulsive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000845<a name=\"hpo-HP.580000845\"> </a></td><td>Growth hormone excess</td></tr><tr><td style=\"white-space:nowrap\">HP:0100829<a name=\"hpo-HP.580100829\"> </a></td><td>Galactorrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001578<a name=\"hpo-HP.580001578\"> </a></td><td>Increased circulating cortisol level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000786<a name=\"hpo-HP.580000786\"> </a></td><td>Primary amenorrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001701<a name=\"hpo-HP.580001701\"> </a></td><td>Pericarditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002076<a name=\"hpo-HP.580002076\"> </a></td><td>Migraine</td></tr><tr><td style=\"white-space:nowrap\">HP:0004755<a name=\"hpo-HP.580004755\"> </a></td><td>Supraventricular tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010522<a name=\"hpo-HP.580010522\"> </a></td><td>Dyslexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004313<a name=\"hpo-HP.580004313\"> </a></td><td>Decreased circulating antibody level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000011<a name=\"hpo-HP.580000011\"> </a></td><td>Neurogenic bladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000641<a name=\"hpo-HP.580000641\"> </a></td><td>Dysmetric saccades</td></tr><tr><td style=\"white-space:nowrap\">HP:0007772<a name=\"hpo-HP.580007772\"> </a></td><td>Impaired smooth pursuit</td></tr><tr><td style=\"white-space:nowrap\">HP:0001583<a name=\"hpo-HP.580001583\"> </a></td><td>Rotary nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010544<a name=\"hpo-HP.580010544\"> </a></td><td>Vertical nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012735<a name=\"hpo-HP.580012735\"> </a></td><td>Cough</td></tr><tr><td style=\"white-space:nowrap\">HP:0002075<a name=\"hpo-HP.580002075\"> </a></td><td>Dysdiadochokinesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0007256<a name=\"hpo-HP.580007256\"> </a></td><td>Abnormal pyramidal sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0001257<a name=\"hpo-HP.580001257\"> </a></td><td>Spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002321<a name=\"hpo-HP.580002321\"> </a></td><td>Vertigo</td></tr><tr><td style=\"white-space:nowrap\">HP:0002384<a name=\"hpo-HP.580002384\"> </a></td><td>Focal impaired awareness seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011376<a name=\"hpo-HP.580011376\"> </a></td><td>Morphological abnormality of the vestibule of the inner ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0002326<a name=\"hpo-HP.580002326\"> </a></td><td>Transient ischemic attack</td></tr><tr><td style=\"white-space:nowrap\">HP:0005584<a name=\"hpo-HP.580005584\"> </a></td><td>Renal cell carcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0003124<a name=\"hpo-HP.580003124\"> </a></td><td>Hypercholesterolemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003002<a name=\"hpo-HP.580003002\"> </a></td><td>Breast carcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0004953<a name=\"hpo-HP.580004953\"> </a></td><td>obsolete Dilatation of abdominal aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0004944<a name=\"hpo-HP.580004944\"> </a></td><td>Dilatation of the cerebral artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0000100<a name=\"hpo-HP.580000100\"> </a></td><td>Nephrotic syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002783<a name=\"hpo-HP.580002783\"> </a></td><td>Recurrent lower respiratory tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0003470<a name=\"hpo-HP.580003470\"> </a></td><td>Paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006597<a name=\"hpo-HP.580006597\"> </a></td><td>Diaphragmatic paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008151<a name=\"hpo-HP.580008151\"> </a></td><td>Prolonged prothrombin time</td></tr><tr><td style=\"white-space:nowrap\">HP:0010628<a name=\"hpo-HP.580010628\"> </a></td><td>Facial palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011892<a name=\"hpo-HP.580011892\"> </a></td><td>Low levels of vitamin K</td></tr><tr><td style=\"white-space:nowrap\">HP:0001075<a name=\"hpo-HP.580001075\"> </a></td><td>Atrophic scars</td></tr><tr><td style=\"white-space:nowrap\">HP:0001816<a name=\"hpo-HP.580001816\"> </a></td><td>Thin nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002216<a name=\"hpo-HP.580002216\"> </a></td><td>Premature graying of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0003401<a name=\"hpo-HP.580003401\"> </a></td><td>Paresthesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100134<a name=\"hpo-HP.580100134\"> </a></td><td>Abnormality of the axillary hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0100797<a name=\"hpo-HP.580100797\"> </a></td><td>Toenail dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010461<a name=\"hpo-HP.580010461\"> </a></td><td>Abnormality of the male genitalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000044<a name=\"hpo-HP.580000044\"> </a></td><td>Hypogonadotropic hypogonadism</td></tr><tr><td style=\"white-space:nowrap\">HP:0100568<a name=\"hpo-HP.580100568\"> </a></td><td>Neoplasm of the endocrine system</td></tr><tr><td style=\"white-space:nowrap\">HP:0001646<a name=\"hpo-HP.580001646\"> </a></td><td>Abnormal aortic valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000813<a name=\"hpo-HP.580000813\"> </a></td><td>Bicornuate uterus</td></tr><tr><td style=\"white-space:nowrap\">HP:0004380<a name=\"hpo-HP.580004380\"> </a></td><td>Aortic valve calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0001650<a name=\"hpo-HP.580001650\"> </a></td><td>Aortic valve stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000073<a name=\"hpo-HP.580000073\"> </a></td><td>Ureteral duplication</td></tr><tr><td style=\"white-space:nowrap\">HP:0100651<a name=\"hpo-HP.580100651\"> </a></td><td>Type I diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000819<a name=\"hpo-HP.580000819\"> </a></td><td>Diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000573<a name=\"hpo-HP.580000573\"> </a></td><td>Retinal hemorrhage</td></tr><tr><td style=\"white-space:nowrap\">HP:0005264<a name=\"hpo-HP.580005264\"> </a></td><td>Abnormality of the gallbladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000475<a name=\"hpo-HP.580000475\"> </a></td><td>Broad neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000089<a name=\"hpo-HP.580000089\"> </a></td><td>Renal hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000921<a name=\"hpo-HP.580000921\"> </a></td><td>Missing ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0001789<a name=\"hpo-HP.580001789\"> </a></td><td>Hydrops fetalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002089<a name=\"hpo-HP.580002089\"> </a></td><td>Pulmonary hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003422<a name=\"hpo-HP.580003422\"> </a></td><td>Vertebral segmentation defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002323<a name=\"hpo-HP.580002323\"> </a></td><td>Anencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000341<a name=\"hpo-HP.580000341\"> </a></td><td>Narrow forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0002869<a name=\"hpo-HP.580002869\"> </a></td><td>Flared iliac wings</td></tr><tr><td style=\"white-space:nowrap\">HP:0003100<a name=\"hpo-HP.580003100\"> </a></td><td>Slender long bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0003275<a name=\"hpo-HP.580003275\"> </a></td><td>Narrow pelvis bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0009891<a name=\"hpo-HP.580009891\"> </a></td><td>Underdeveloped supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0011039<a name=\"hpo-HP.580011039\"> </a></td><td>Abnormality of the helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0008572<a name=\"hpo-HP.580008572\"> </a></td><td>External ear malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0009738<a name=\"hpo-HP.580009738\"> </a></td><td>Abnormality of the antihelix</td></tr><tr><td style=\"white-space:nowrap\">HP:0011328<a name=\"hpo-HP.580011328\"> </a></td><td>Abnormality of fontanelles</td></tr><tr><td style=\"white-space:nowrap\">HP:0012155<a name=\"hpo-HP.580012155\"> </a></td><td>Decreased corneal sensation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004602<a name=\"hpo-HP.580004602\"> </a></td><td>Cervical C2/C3 vertebral fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002997<a name=\"hpo-HP.580002997\"> </a></td><td>Abnormality of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0009777<a name=\"hpo-HP.580009777\"> </a></td><td>Absent thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002893<a name=\"hpo-HP.580002893\"> </a></td><td>Pituitary adenoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0040278<a name=\"hpo-HP.580040278\"> </a></td><td>Prolactinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001555<a name=\"hpo-HP.580001555\"> </a></td><td>Asymmetry of the thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0000902<a name=\"hpo-HP.580000902\"> </a></td><td>Rib fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002164<a name=\"hpo-HP.580002164\"> </a></td><td>Nail dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011314<a name=\"hpo-HP.580011314\"> </a></td><td>Abnormality of long bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002867<a name=\"hpo-HP.580002867\"> </a></td><td>Abnormality of the ilium</td></tr><tr><td style=\"white-space:nowrap\">HP:0000774<a name=\"hpo-HP.580000774\"> </a></td><td>Narrow chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0006482<a name=\"hpo-HP.580006482\"> </a></td><td>Abnormality of dental morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0004383<a name=\"hpo-HP.580004383\"> </a></td><td>Hypoplastic left heart</td></tr><tr><td style=\"white-space:nowrap\">HP:0002015<a name=\"hpo-HP.580002015\"> </a></td><td>Dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0500093<a name=\"hpo-HP.580500093\"> </a></td><td>Food allergy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001519<a name=\"hpo-HP.580001519\"> </a></td><td>Disproportionate tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0003179<a name=\"hpo-HP.580003179\"> </a></td><td>Protrusio acetabuli</td></tr><tr><td style=\"white-space:nowrap\">HP:0007385<a name=\"hpo-HP.580007385\"> </a></td><td>Aplasia cutis congenita of scalp</td></tr><tr><td style=\"white-space:nowrap\">HP:0000716<a name=\"hpo-HP.580000716\"> </a></td><td>Depressivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0012583<a name=\"hpo-HP.580012583\"> </a></td><td>Unilateral renal hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000618<a name=\"hpo-HP.580000618\"> </a></td><td>Blindness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001004<a name=\"hpo-HP.580001004\"> </a></td><td>Lymphedema</td></tr><tr><td style=\"white-space:nowrap\">HP:0002652<a name=\"hpo-HP.580002652\"> </a></td><td>Skeletal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012520<a name=\"hpo-HP.580012520\"> </a></td><td>Perivascular spaces</td></tr><tr><td style=\"white-space:nowrap\">HP:0005293<a name=\"hpo-HP.580005293\"> </a></td><td>Venous insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0012432<a name=\"hpo-HP.580012432\"> </a></td><td>Chronic fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002578<a name=\"hpo-HP.580002578\"> </a></td><td>Gastroparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001658<a name=\"hpo-HP.580001658\"> </a></td><td>Myocardial infarction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001802<a name=\"hpo-HP.580001802\"> </a></td><td>Absent toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0001821<a name=\"hpo-HP.580001821\"> </a></td><td>Broad nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0000807<a name=\"hpo-HP.580000807\"> </a></td><td>Glandular hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0100582<a name=\"hpo-HP.580100582\"> </a></td><td>Nasal polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002653<a name=\"hpo-HP.580002653\"> </a></td><td>Bone pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0001073<a name=\"hpo-HP.580001073\"> </a></td><td>Cigarette-paper scars</td></tr><tr><td style=\"white-space:nowrap\">HP:0031913<a name=\"hpo-HP.580031913\"> </a></td><td>Rhombencephalosynapsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002617<a name=\"hpo-HP.580002617\"> </a></td><td>Dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005107<a name=\"hpo-HP.580005107\"> </a></td><td>Abnormal sacrum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002025<a name=\"hpo-HP.580002025\"> </a></td><td>Anal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0009099<a name=\"hpo-HP.580009099\"> </a></td><td>Median cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0003212<a name=\"hpo-HP.580003212\"> </a></td><td>Increased circulating IgE level</td></tr><tr><td style=\"white-space:nowrap\">HP:0001319<a name=\"hpo-HP.580001319\"> </a></td><td>Neonatal hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002659<a name=\"hpo-HP.580002659\"> </a></td><td>Increased susceptibility to fractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0025246<a name=\"hpo-HP.580025246\"> </a></td><td>Trichilemmal cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0002107<a name=\"hpo-HP.580002107\"> </a></td><td>Pneumothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0000107<a name=\"hpo-HP.580000107\"> </a></td><td>Renal cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0001025<a name=\"hpo-HP.580001025\"> </a></td><td>Urticaria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002204<a name=\"hpo-HP.580002204\"> </a></td><td>Pulmonary embolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001058<a name=\"hpo-HP.580001058\"> </a></td><td>Poor wound healing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003010<a name=\"hpo-HP.580003010\"> </a></td><td>Prolonged bleeding time</td></tr><tr><td style=\"white-space:nowrap\">HP:0100502<a name=\"hpo-HP.580100502\"> </a></td><td>Vitamin B12 deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0100510<a name=\"hpo-HP.580100510\"> </a></td><td>Low levels of vitamin C</td></tr><tr><td style=\"white-space:nowrap\">HP:0030976<a name=\"hpo-HP.580030976\"> </a></td><td>Abnormal factor VIII activity</td></tr><tr><td style=\"white-space:nowrap\">HP:0100789<a name=\"hpo-HP.580100789\"> </a></td><td>Torus palatinus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000108<a name=\"hpo-HP.580000108\"> </a></td><td>Renal corticomedullary cysts</td></tr><tr><td style=\"white-space:nowrap\">HP:0000072<a name=\"hpo-HP.580000072\"> </a></td><td>Hydroureter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000019<a name=\"hpo-HP.580000019\"> </a></td><td>Urinary hesitancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100771<a name=\"hpo-HP.580100771\"> </a></td><td>Hypoperistalsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000021<a name=\"hpo-HP.580000021\"> </a></td><td>Megacystis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004388<a name=\"hpo-HP.580004388\"> </a></td><td>Microcolon</td></tr><tr><td style=\"white-space:nowrap\">HP:0005247<a name=\"hpo-HP.580005247\"> </a></td><td>Hypoplasia of the abdominal wall musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0004794<a name=\"hpo-HP.580004794\"> </a></td><td>Malrotation of small bowel</td></tr><tr><td style=\"white-space:nowrap\">HP:0000045<a name=\"hpo-HP.580000045\"> </a></td><td>Abnormality of the scrotum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002236<a name=\"hpo-HP.580002236\"> </a></td><td>Frontal upsweep of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000212<a name=\"hpo-HP.580000212\"> </a></td><td>Gingival overgrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001808<a name=\"hpo-HP.580001808\"> </a></td><td>Fragile nails</td></tr><tr><td style=\"white-space:nowrap\">HP:0000225<a name=\"hpo-HP.580000225\"> </a></td><td>Gingival bleeding</td></tr><tr><td style=\"white-space:nowrap\">HP:0006009<a name=\"hpo-HP.580006009\"> </a></td><td>Broad phalanx</td></tr><tr><td style=\"white-space:nowrap\">HP:0001837<a name=\"hpo-HP.580001837\"> </a></td><td>Broad toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001946<a name=\"hpo-HP.580001946\"> </a></td><td>Ketosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002490<a name=\"hpo-HP.580002490\"> </a></td><td>Increased CSF lactate</td></tr><tr><td style=\"white-space:nowrap\">HP:0002922<a name=\"hpo-HP.580002922\"> </a></td><td>Increased CSF protein</td></tr><tr><td style=\"white-space:nowrap\">HP:0003128<a name=\"hpo-HP.580003128\"> </a></td><td>Lactic acidosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003111<a name=\"hpo-HP.580003111\"> </a></td><td>Abnormal blood ion concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0032234<a name=\"hpo-HP.580032234\"> </a></td><td>Increased circulating creatine kinase MM isoform</td></tr><tr><td style=\"white-space:nowrap\">HP:0003348<a name=\"hpo-HP.580003348\"> </a></td><td>Hyperalaninemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008347<a name=\"hpo-HP.580008347\"> </a></td><td>Decreased activity of mitochondrial complex IV</td></tr><tr><td style=\"white-space:nowrap\">HP:0000326<a name=\"hpo-HP.580000326\"> </a></td><td>Abnormality of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0010758<a name=\"hpo-HP.580010758\"> </a></td><td>Abnormality of the premaxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0005681<a name=\"hpo-HP.580005681\"> </a></td><td>Juvenile rheumatoid arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000514<a name=\"hpo-HP.580000514\"> </a></td><td>Slow saccadic eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0002788<a name=\"hpo-HP.580002788\"> </a></td><td>Recurrent upper respiratory tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0003396<a name=\"hpo-HP.580003396\"> </a></td><td>Syringomyelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003011<a name=\"hpo-HP.580003011\"> </a></td><td>Abnormality of the musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0002098<a name=\"hpo-HP.580002098\"> </a></td><td>Respiratory distress</td></tr><tr><td style=\"white-space:nowrap\">HP:0002018<a name=\"hpo-HP.580002018\"> </a></td><td>Nausea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002014<a name=\"hpo-HP.580002014\"> </a></td><td>Diarrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0025168<a name=\"hpo-HP.580025168\"> </a></td><td>Left ventricular diastolic dysfunction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001679<a name=\"hpo-HP.580001679\"> </a></td><td>Abnormal aortic morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000159<a name=\"hpo-HP.580000159\"> </a></td><td>Abnormal lip morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011338<a name=\"hpo-HP.580011338\"> </a></td><td>Abnormality of mouth shape</td></tr><tr><td style=\"white-space:nowrap\">HP:0000478<a name=\"hpo-HP.580000478\"> </a></td><td>Abnormality of the eye</td></tr><tr><td style=\"white-space:nowrap\">HP:0000154<a name=\"hpo-HP.580000154\"> </a></td><td>Wide mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001513<a name=\"hpo-HP.580001513\"> </a></td><td>Obesity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002475<a name=\"hpo-HP.580002475\"> </a></td><td>Myelomeningocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0003765<a name=\"hpo-HP.580003765\"> </a></td><td>Psoriasiform dermatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010289<a name=\"hpo-HP.580010289\"> </a></td><td>Cleft of alveolar ridge of maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0003908<a name=\"hpo-HP.580003908\"> </a></td><td>Corner fracture of metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002190<a name=\"hpo-HP.580002190\"> </a></td><td>Choroid plexus cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0004370<a name=\"hpo-HP.580004370\"> </a></td><td>Abnormality of temperature regulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011611<a name=\"hpo-HP.580011611\"> </a></td><td>Interrupted aortic arch</td></tr><tr><td style=\"white-space:nowrap\">HP:0000737<a name=\"hpo-HP.580000737\"> </a></td><td>Irritability</td></tr><tr><td style=\"white-space:nowrap\">HP:0001344<a name=\"hpo-HP.580001344\"> </a></td><td>Absent speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0002376<a name=\"hpo-HP.580002376\"> </a></td><td>Developmental regression</td></tr><tr><td style=\"white-space:nowrap\">HP:0002140<a name=\"hpo-HP.580002140\"> </a></td><td>Ischemic stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0001287<a name=\"hpo-HP.580001287\"> </a></td><td>Meningitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002721<a name=\"hpo-HP.580002721\"> </a></td><td>Immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000041<a name=\"hpo-HP.580000041\"> </a></td><td>Chordee</td></tr><tr><td style=\"white-space:nowrap\">HP:0012854<a name=\"hpo-HP.580012854\"> </a></td><td>Midshaft hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0000808<a name=\"hpo-HP.580000808\"> </a></td><td>Penoscrotal hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0000048<a name=\"hpo-HP.580000048\"> </a></td><td>Bifid scrotum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001047<a name=\"hpo-HP.580001047\"> </a></td><td>Atopic dermatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001621<a name=\"hpo-HP.580001621\"> </a></td><td>Weak voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0002372<a name=\"hpo-HP.580002372\"> </a></td><td>Normal interictal EEG</td></tr><tr><td style=\"white-space:nowrap\">HP:0012803<a name=\"hpo-HP.580012803\"> </a></td><td>Anisometropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011386<a name=\"hpo-HP.580011386\"> </a></td><td>Narrow internal auditory canal</td></tr><tr><td style=\"white-space:nowrap\">HP:0012714<a name=\"hpo-HP.580012714\"> </a></td><td>Severe hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0006485<a name=\"hpo-HP.580006485\"> </a></td><td>Agenesis of incisor</td></tr><tr><td style=\"white-space:nowrap\">HP:0000787<a name=\"hpo-HP.580000787\"> </a></td><td>Nephrolithiasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011332<a name=\"hpo-HP.580011332\"> </a></td><td>Hemifacial hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001909<a name=\"hpo-HP.580001909\"> </a></td><td>Leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004808<a name=\"hpo-HP.580004808\"> </a></td><td>Acute myeloid leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006495<a name=\"hpo-HP.580006495\"> </a></td><td>Aplasia/Hypoplasia of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0001180<a name=\"hpo-HP.580001180\"> </a></td><td>Hand oligodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002991<a name=\"hpo-HP.580002991\"> </a></td><td>Abnormality of fibula morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001849<a name=\"hpo-HP.580001849\"> </a></td><td>Foot oligodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0006507<a name=\"hpo-HP.580006507\"> </a></td><td>Aplasia/hypoplasia of the humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0005613<a name=\"hpo-HP.580005613\"> </a></td><td>Aplasia/hypoplasia of the femur</td></tr><tr><td style=\"white-space:nowrap\">HP:0006492<a name=\"hpo-HP.580006492\"> </a></td><td>Aplasia/Hypoplasia of the fibula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000098<a name=\"hpo-HP.580000098\"> </a></td><td>Tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0003311<a name=\"hpo-HP.580003311\"> </a></td><td>Hypoplasia of the odontoid process</td></tr><tr><td style=\"white-space:nowrap\">HP:0005752<a name=\"hpo-HP.580005752\"> </a></td><td>Flattened moderately deformed vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0030039<a name=\"hpo-HP.580030039\"> </a></td><td>Fused thoracic vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0003304<a name=\"hpo-HP.580003304\"> </a></td><td>Spondylolysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001659<a name=\"hpo-HP.580001659\"> </a></td><td>Aortic regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002984<a name=\"hpo-HP.580002984\"> </a></td><td>Hypoplasia of the radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0009944<a name=\"hpo-HP.580009944\"> </a></td><td>Partial duplication of thumb phalanx</td></tr><tr><td style=\"white-space:nowrap\">HP:0005819<a name=\"hpo-HP.580005819\"> </a></td><td>Short middle phalanx of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0002110<a name=\"hpo-HP.580002110\"> </a></td><td>Bronchiectasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001677<a name=\"hpo-HP.580001677\"> </a></td><td>Coronary artery atherosclerosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001737<a name=\"hpo-HP.580001737\"> </a></td><td>Pancreatic cysts</td></tr><tr><td style=\"white-space:nowrap\">HP:0005113<a name=\"hpo-HP.580005113\"> </a></td><td>Aortic arch aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003022<a name=\"hpo-HP.580003022\"> </a></td><td>Hypoplasia of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0002205<a name=\"hpo-HP.580002205\"> </a></td><td>Recurrent respiratory infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0001669<a name=\"hpo-HP.580001669\"> </a></td><td>Transposition of the great arteries</td></tr><tr><td style=\"white-space:nowrap\">HP:0001716<a name=\"hpo-HP.580001716\"> </a></td><td>Wolff-Parkinson-White syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002758<a name=\"hpo-HP.580002758\"> </a></td><td>Osteoarthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002037<a name=\"hpo-HP.580002037\"> </a></td><td>Inflammation of the large intestine</td></tr><tr><td style=\"white-space:nowrap\">HP:0009892<a name=\"hpo-HP.580009892\"> </a></td><td>Anotia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011331<a name=\"hpo-HP.580011331\"> </a></td><td>Hemifacial atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0009118<a name=\"hpo-HP.580009118\"> </a></td><td>Aplasia/Hypoplasia of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0009940<a name=\"hpo-HP.580009940\"> </a></td><td>Asymmetry of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000682<a name=\"hpo-HP.580000682\"> </a></td><td>Abnormality of dental enamel</td></tr><tr><td style=\"white-space:nowrap\">HP:0009908<a name=\"hpo-HP.580009908\"> </a></td><td>Anterior creases of earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001541<a name=\"hpo-HP.580001541\"> </a></td><td>Ascites</td></tr><tr><td style=\"white-space:nowrap\">HP:0006687<a name=\"hpo-HP.580006687\"> </a></td><td>Aortic tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0010535<a name=\"hpo-HP.580010535\"> </a></td><td>Sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0100633<a name=\"hpo-HP.580100633\"> </a></td><td>Esophagitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002105<a name=\"hpo-HP.580002105\"> </a></td><td>Hemoptysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002613<a name=\"hpo-HP.580002613\"> </a></td><td>Biliary cirrhosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004469<a name=\"hpo-HP.580004469\"> </a></td><td>Chronic bronchitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002720<a name=\"hpo-HP.580002720\"> </a></td><td>Decreased circulating IgA level</td></tr><tr><td style=\"white-space:nowrap\">HP:0002904<a name=\"hpo-HP.580002904\"> </a></td><td>Hyperbilirubinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003237<a name=\"hpo-HP.580003237\"> </a></td><td>Increased circulating IgG level</td></tr><tr><td style=\"white-space:nowrap\">HP:0003262<a name=\"hpo-HP.580003262\"> </a></td><td>Smooth muscle antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0011227<a name=\"hpo-HP.580011227\"> </a></td><td>Elevated C-reactive protein level</td></tr><tr><td style=\"white-space:nowrap\">HP:0001852<a name=\"hpo-HP.580001852\"> </a></td><td>Sandal gap</td></tr><tr><td style=\"white-space:nowrap\">HP:0004381<a name=\"hpo-HP.580004381\"> </a></td><td>Supravalvular aortic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100700<a name=\"hpo-HP.580100700\"> </a></td><td>Abnormal arachnoid mater morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002624<a name=\"hpo-HP.580002624\"> </a></td><td>Abnormal venous morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002289<a name=\"hpo-HP.580002289\"> </a></td><td>Alopecia universalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0009588<a name=\"hpo-HP.580009588\"> </a></td><td>Vestibular Schwannoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001648<a name=\"hpo-HP.580001648\"> </a></td><td>Cor pulmonale</td></tr><tr><td style=\"white-space:nowrap\">HP:0002091<a name=\"hpo-HP.580002091\"> </a></td><td>Restrictive ventilatory defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002092<a name=\"hpo-HP.580002092\"> </a></td><td>Pulmonary arterial hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0002113<a name=\"hpo-HP.580002113\"> </a></td><td>Pulmonary infiltrates</td></tr><tr><td style=\"white-space:nowrap\">HP:0003138<a name=\"hpo-HP.580003138\"> </a></td><td>Increased blood urea nitrogen</td></tr><tr><td style=\"white-space:nowrap\">HP:0003259<a name=\"hpo-HP.580003259\"> </a></td><td>Elevated serum creatinine</td></tr><tr><td style=\"white-space:nowrap\">HP:0005180<a name=\"hpo-HP.580005180\"> </a></td><td>Tricuspid regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0012585<a name=\"hpo-HP.580012585\"> </a></td><td>Renal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005133<a name=\"hpo-HP.580005133\"> </a></td><td>Right ventricular dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005575<a name=\"hpo-HP.580005575\"> </a></td><td>Hemolytic-uremic syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0001697<a name=\"hpo-HP.580001697\"> </a></td><td>Abnormal pericardium morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012486<a name=\"hpo-HP.580012486\"> </a></td><td>Myelitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002385<a name=\"hpo-HP.580002385\"> </a></td><td>Paraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006706<a name=\"hpo-HP.580006706\"> </a></td><td>Cystic liver disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0010880<a name=\"hpo-HP.580010880\"> </a></td><td>Increased nuchal translucency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000457<a name=\"hpo-HP.580000457\"> </a></td><td>Depressed nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0002263<a name=\"hpo-HP.580002263\"> </a></td><td>Exaggerated cupid's bow</td></tr><tr><td style=\"white-space:nowrap\">HP:0002500<a name=\"hpo-HP.580002500\"> </a></td><td>Abnormality of the cerebral white matter</td></tr><tr><td style=\"white-space:nowrap\">HP:0002835<a name=\"hpo-HP.580002835\"> </a></td><td>Aspiration</td></tr><tr><td style=\"white-space:nowrap\">HP:0000600<a name=\"hpo-HP.580000600\"> </a></td><td>Abnormality of the pharynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0004327<a name=\"hpo-HP.580004327\"> </a></td><td>Abnormal vitreous humor morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0004378<a name=\"hpo-HP.580004378\"> </a></td><td>Abnormality of the anus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012374<a name=\"hpo-HP.580012374\"> </a></td><td>obsolete Abnormal globe morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100768<a name=\"hpo-HP.580100768\"> </a></td><td>Choriocarcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0030991<a name=\"hpo-HP.580030991\"> </a></td><td>Sclerosing cholangitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006510<a name=\"hpo-HP.580006510\"> </a></td><td>Chronic pulmonary obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0000710<a name=\"hpo-HP.580000710\"> </a></td><td>Hyperorality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001270<a name=\"hpo-HP.580001270\"> </a></td><td>Motor delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0001548<a name=\"hpo-HP.580001548\"> </a></td><td>Overgrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002311<a name=\"hpo-HP.580002311\"> </a></td><td>Incoordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0006288<a name=\"hpo-HP.580006288\"> </a></td><td>Advanced eruption of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0006323<a name=\"hpo-HP.580006323\"> </a></td><td>Premature loss of primary teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009890<a name=\"hpo-HP.580009890\"> </a></td><td>High anterior hairline</td></tr><tr><td style=\"white-space:nowrap\">HP:0100034<a name=\"hpo-HP.580100034\"> </a></td><td>Motor tics</td></tr><tr><td style=\"white-space:nowrap\">HP:0100035<a name=\"hpo-HP.580100035\"> </a></td><td>Phonic tics</td></tr><tr><td style=\"white-space:nowrap\">HP:0000348<a name=\"hpo-HP.580000348\"> </a></td><td>High forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0001520<a name=\"hpo-HP.580001520\"> </a></td><td>Large for gestational age</td></tr><tr><td style=\"white-space:nowrap\">HP:0001239<a name=\"hpo-HP.580001239\"> </a></td><td>Wrist flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0007359<a name=\"hpo-HP.580007359\"> </a></td><td>Focal-onset seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000430<a name=\"hpo-HP.580000430\"> </a></td><td>Underdeveloped nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0007400<a name=\"hpo-HP.580007400\"> </a></td><td>Irregular hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0100495<a name=\"hpo-HP.580100495\"> </a></td><td>Mastocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012378<a name=\"hpo-HP.580012378\"> </a></td><td>Fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002046<a name=\"hpo-HP.580002046\"> </a></td><td>Heat intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0003270<a name=\"hpo-HP.580003270\"> </a></td><td>Abdominal distention</td></tr><tr><td style=\"white-space:nowrap\">HP:0002180<a name=\"hpo-HP.580002180\"> </a></td><td>Neurodegeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0003493<a name=\"hpo-HP.580003493\"> </a></td><td>Antinuclear antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0030057<a name=\"hpo-HP.580030057\"> </a></td><td>Autoimmune antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0006802<a name=\"hpo-HP.580006802\"> </a></td><td>Abnormal anterior horn cell morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000064<a name=\"hpo-HP.580000064\"> </a></td><td>Hypoplastic labia minora</td></tr><tr><td style=\"white-space:nowrap\">HP:0000338<a name=\"hpo-HP.580000338\"> </a></td><td>Hypomimic face</td></tr><tr><td style=\"white-space:nowrap\">HP:0001642<a name=\"hpo-HP.580001642\"> </a></td><td>Pulmonic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011344<a name=\"hpo-HP.580011344\"> </a></td><td>Severe global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0200007<a name=\"hpo-HP.580200007\"> </a></td><td>Abnormal size of the palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0004464<a name=\"hpo-HP.580004464\"> </a></td><td>Postauricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0000130<a name=\"hpo-HP.580000130\"> </a></td><td>Abnormality of the uterus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000137<a name=\"hpo-HP.580000137\"> </a></td><td>Abnormality of the ovary</td></tr><tr><td style=\"white-space:nowrap\">HP:0000142<a name=\"hpo-HP.580000142\"> </a></td><td>Abnormal vagina morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000370<a name=\"hpo-HP.580000370\"> </a></td><td>Abnormality of the middle ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0011787<a name=\"hpo-HP.580011787\"> </a></td><td>Central hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000274<a name=\"hpo-HP.580000274\"> </a></td><td>Small face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000446<a name=\"hpo-HP.580000446\"> </a></td><td>Narrow nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000622<a name=\"hpo-HP.580000622\"> </a></td><td>Blurred vision</td></tr><tr><td style=\"white-space:nowrap\">HP:0001245<a name=\"hpo-HP.580001245\"> </a></td><td>Small thenar eminence</td></tr><tr><td style=\"white-space:nowrap\">HP:0009601<a name=\"hpo-HP.580009601\"> </a></td><td>Aplasia/Hypoplasia of the thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0011343<a name=\"hpo-HP.580011343\"> </a></td><td>Moderate global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0000419<a name=\"hpo-HP.580000419\"> </a></td><td>Abnormality of the nasal septum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000502<a name=\"hpo-HP.580000502\"> </a></td><td>Abnormal conjunctiva morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000591<a name=\"hpo-HP.580000591\"> </a></td><td>Abnormal sclera morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000615<a name=\"hpo-HP.580000615\"> </a></td><td>Abnormal pupil morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001163<a name=\"hpo-HP.580001163\"> </a></td><td>Abnormality of the metacarpal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0001832<a name=\"hpo-HP.580001832\"> </a></td><td>Abnormal metatarsal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001850<a name=\"hpo-HP.580001850\"> </a></td><td>Abnormality of the tarsal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0010490<a name=\"hpo-HP.580010490\"> </a></td><td>Abnormality of the palmar creases</td></tr><tr><td style=\"white-space:nowrap\">HP:0010881<a name=\"hpo-HP.580010881\"> </a></td><td>Abnormality of the umbilical cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0009113<a name=\"hpo-HP.580009113\"> </a></td><td>Diaphragmatic weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0011664<a name=\"hpo-HP.580011664\"> </a></td><td>Left ventricular noncompaction cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100240<a name=\"hpo-HP.580100240\"> </a></td><td>Synostosis of joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0001838<a name=\"hpo-HP.580001838\"> </a></td><td>Rocker bottom foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0003717<a name=\"hpo-HP.580003717\"> </a></td><td>Minimal subcutaneous fat</td></tr><tr><td style=\"white-space:nowrap\">HP:0001339<a name=\"hpo-HP.580001339\"> </a></td><td>Lissencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001591<a name=\"hpo-HP.580001591\"> </a></td><td>Bell-shaped thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0002655<a name=\"hpo-HP.580002655\"> </a></td><td>Spondyloepiphyseal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002983<a name=\"hpo-HP.580002983\"> </a></td><td>Micromelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003016<a name=\"hpo-HP.580003016\"> </a></td><td>Metaphyseal widening</td></tr><tr><td style=\"white-space:nowrap\">HP:0009826<a name=\"hpo-HP.580009826\"> </a></td><td>Limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0004488<a name=\"hpo-HP.580004488\"> </a></td><td>Macrocephaly at birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001695<a name=\"hpo-HP.580001695\"> </a></td><td>Cardiac arrest</td></tr><tr><td style=\"white-space:nowrap\">HP:0001712<a name=\"hpo-HP.580001712\"> </a></td><td>Left ventricular hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100775<a name=\"hpo-HP.580100775\"> </a></td><td>Dural ectasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000846<a name=\"hpo-HP.580000846\"> </a></td><td>Adrenal insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002925<a name=\"hpo-HP.580002925\"> </a></td><td>Increased thyroid-stimulating hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0100646<a name=\"hpo-HP.580100646\"> </a></td><td>Thyroiditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000836<a name=\"hpo-HP.580000836\"> </a></td><td>Hyperthyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0004414<a name=\"hpo-HP.580004414\"> </a></td><td>Abnormality of the pulmonary artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0000465<a name=\"hpo-HP.580000465\"> </a></td><td>Webbed neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000723<a name=\"hpo-HP.580000723\"> </a></td><td>Restrictive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0002253<a name=\"hpo-HP.580002253\"> </a></td><td>Colonic diverticula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001310<a name=\"hpo-HP.580001310\"> </a></td><td>Dysmetria</td></tr><tr><td style=\"white-space:nowrap\">HP:0000093<a name=\"hpo-HP.580000093\"> </a></td><td>Proteinuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002907<a name=\"hpo-HP.580002907\"> </a></td><td>Microscopic hematuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0003073<a name=\"hpo-HP.580003073\"> </a></td><td>Hypoalbuminemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004315<a name=\"hpo-HP.580004315\"> </a></td><td>Decreased circulating IgG level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000795<a name=\"hpo-HP.580000795\"> </a></td><td>Abnormality of the urethra</td></tr><tr><td style=\"white-space:nowrap\">HP:0001015<a name=\"hpo-HP.580001015\"> </a></td><td>Prominent superficial veins</td></tr><tr><td style=\"white-space:nowrap\">HP:0004691<a name=\"hpo-HP.580004691\"> </a></td><td>2-3 toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005328<a name=\"hpo-HP.580005328\"> </a></td><td>Progeroid facial appearance</td></tr><tr><td style=\"white-space:nowrap\">HP:0005487<a name=\"hpo-HP.580005487\"> </a></td><td>Prominent metopic ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0007552<a name=\"hpo-HP.580007552\"> </a></td><td>Abnormal subcutaneous fat tissue distribution</td></tr><tr><td style=\"white-space:nowrap\">HP:0100678<a name=\"hpo-HP.580100678\"> </a></td><td>Premature skin wrinkling</td></tr><tr><td style=\"white-space:nowrap\">HP:0031137<a name=\"hpo-HP.580031137\"> </a></td><td>Storage in hepatocytes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002521<a name=\"hpo-HP.580002521\"> </a></td><td>Hypsarrhythmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005390<a name=\"hpo-HP.580005390\"> </a></td><td>Recurrent opportunistic infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0002716<a name=\"hpo-HP.580002716\"> </a></td><td>Lymphadenopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005379<a name=\"hpo-HP.580005379\"> </a></td><td>obsolete Severe T lymphocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004432<a name=\"hpo-HP.580004432\"> </a></td><td>Agammaglobulinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006695<a name=\"hpo-HP.580006695\"> </a></td><td>Atrioventricular canal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0001733<a name=\"hpo-HP.580001733\"> </a></td><td>Pancreatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002350<a name=\"hpo-HP.580002350\"> </a></td><td>Cerebellar cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0012110<a name=\"hpo-HP.580012110\"> </a></td><td>Hypoplasia of the pons</td></tr><tr><td style=\"white-space:nowrap\">HP:0001948<a name=\"hpo-HP.580001948\"> </a></td><td>Alkalosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003113<a name=\"hpo-HP.580003113\"> </a></td><td>Hypochloremia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003155<a name=\"hpo-HP.580003155\"> </a></td><td>Elevated alkaline phosphatase</td></tr><tr><td style=\"white-space:nowrap\">HP:0003542<a name=\"hpo-HP.580003542\"> </a></td><td>Increased serum pyruvate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000421<a name=\"hpo-HP.580000421\"> </a></td><td>Epistaxis</td></tr><tr><td style=\"white-space:nowrap\">HP:0200136<a name=\"hpo-HP.580200136\"> </a></td><td>Oral-pharyngeal dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000805<a name=\"hpo-HP.580000805\"> </a></td><td>Enuresis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005616<a name=\"hpo-HP.580005616\"> </a></td><td>Accelerated skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002459<a name=\"hpo-HP.580002459\"> </a></td><td>obsolete Dysautonomia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007302<a name=\"hpo-HP.580007302\"> </a></td><td>Bipolar affective disorder</td></tr><tr><td style=\"white-space:nowrap\">HP:0100602<a name=\"hpo-HP.580100602\"> </a></td><td>Preeclampsia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100508<a name=\"hpo-HP.580100508\"> </a></td><td>Abnormality of vitamin metabolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001140<a name=\"hpo-HP.580001140\"> </a></td><td>Limbal dermoid</td></tr><tr><td style=\"white-space:nowrap\">HP:0000143<a name=\"hpo-HP.580000143\"> </a></td><td>Rectovaginal fistula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001746<a name=\"hpo-HP.580001746\"> </a></td><td>Asplenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012715<a name=\"hpo-HP.580012715\"> </a></td><td>Profound hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001748<a name=\"hpo-HP.580001748\"> </a></td><td>Polysplenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003072<a name=\"hpo-HP.580003072\"> </a></td><td>Hypercalcemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002905<a name=\"hpo-HP.580002905\"> </a></td><td>Hyperphosphatemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002901<a name=\"hpo-HP.580002901\"> </a></td><td>Hypocalcemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001367<a name=\"hpo-HP.580001367\"> </a></td><td>Abnormal joint morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0010562<a name=\"hpo-HP.580010562\"> </a></td><td>Keloids</td></tr><tr><td style=\"white-space:nowrap\">HP:0004430<a name=\"hpo-HP.580004430\"> </a></td><td>Severe combined immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000003<a name=\"hpo-HP.580000003\"> </a></td><td>Multicystic kidney dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010980<a name=\"hpo-HP.580010980\"> </a></td><td>Hyperlipoproteinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002155<a name=\"hpo-HP.580002155\"> </a></td><td>Hypertriglyceridemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000520<a name=\"hpo-HP.580000520\"> </a></td><td>Proptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000180<a name=\"hpo-HP.580000180\"> </a></td><td>Lobulated tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0005486<a name=\"hpo-HP.580005486\"> </a></td><td>Small fontanelle</td></tr><tr><td style=\"white-space:nowrap\">HP:0000891<a name=\"hpo-HP.580000891\"> </a></td><td>Cervical ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002557<a name=\"hpo-HP.580002557\"> </a></td><td>Hypoplastic nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0009112<a name=\"hpo-HP.580009112\"> </a></td><td>Aplasia of the left hemidiaphragm</td></tr><tr><td style=\"white-space:nowrap\">HP:0001719<a name=\"hpo-HP.580001719\"> </a></td><td>Double outlet right ventricle</td></tr><tr><td style=\"white-space:nowrap\">HP:0001682<a name=\"hpo-HP.580001682\"> </a></td><td>Subvalvular aortic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001667<a name=\"hpo-HP.580001667\"> </a></td><td>Right ventricular hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002101<a name=\"hpo-HP.580002101\"> </a></td><td>Abnormal lung lobation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002202<a name=\"hpo-HP.580002202\"> </a></td><td>Pleural effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002566<a name=\"hpo-HP.580002566\"> </a></td><td>Intestinal malrotation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004510<a name=\"hpo-HP.580004510\"> </a></td><td>Pancreatic islet-cell hyperplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001747<a name=\"hpo-HP.580001747\"> </a></td><td>Accessory spleen</td></tr><tr><td style=\"white-space:nowrap\">HP:0002181<a name=\"hpo-HP.580002181\"> </a></td><td>Cerebral edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000967<a name=\"hpo-HP.580000967\"> </a></td><td>Petechiae</td></tr><tr><td style=\"white-space:nowrap\">HP:0009702<a name=\"hpo-HP.580009702\"> </a></td><td>Carpal synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000927<a name=\"hpo-HP.580000927\"> </a></td><td>Abnormality of skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004348<a name=\"hpo-HP.580004348\"> </a></td><td>Abnormality of bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0003019<a name=\"hpo-HP.580003019\"> </a></td><td>Abnormality of the wrist</td></tr><tr><td style=\"white-space:nowrap\">HP:0003063<a name=\"hpo-HP.580003063\"> </a></td><td>Abnormality of the humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001059<a name=\"hpo-HP.580001059\"> </a></td><td>Pterygium</td></tr><tr><td style=\"white-space:nowrap\">HP:0001528<a name=\"hpo-HP.580001528\"> </a></td><td>Hemihypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011228<a name=\"hpo-HP.580011228\"> </a></td><td>Horizontal eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000766<a name=\"hpo-HP.580000766\"> </a></td><td>Abnormality of the sternum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001254<a name=\"hpo-HP.580001254\"> </a></td><td>Lethargy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002360<a name=\"hpo-HP.580002360\"> </a></td><td>Sleep disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001063<a name=\"hpo-HP.580001063\"> </a></td><td>Acrocyanosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001769<a name=\"hpo-HP.580001769\"> </a></td><td>Broad foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0010280<a name=\"hpo-HP.580010280\"> </a></td><td>Stomatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001288<a name=\"hpo-HP.580001288\"> </a></td><td>Gait disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0008330<a name=\"hpo-HP.580008330\"> </a></td><td>Reduced von Willebrand factor activity</td></tr><tr><td style=\"white-space:nowrap\">HP:0001954<a name=\"hpo-HP.580001954\"> </a></td><td>Recurrent fever</td></tr><tr><td style=\"white-space:nowrap\">HP:0004311<a name=\"hpo-HP.580004311\"> </a></td><td>Abnormal macrophage morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012539<a name=\"hpo-HP.580012539\"> </a></td><td>Non-Hodgkin lymphoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0002074<a name=\"hpo-HP.580002074\"> </a></td><td>Increased neuronal autofluorescent lipopigment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002973<a name=\"hpo-HP.580002973\"> </a></td><td>Abnormality of the forearm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003203<a name=\"hpo-HP.580003203\"> </a></td><td>Impaired oxidative burst</td></tr><tr><td style=\"white-space:nowrap\">HP:0003027<a name=\"hpo-HP.580003027\"> </a></td><td>Mesomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002754<a name=\"hpo-HP.580002754\"> </a></td><td>Osteomyelitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004431<a name=\"hpo-HP.580004431\"> </a></td><td>Complement deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0001258<a name=\"hpo-HP.580001258\"> </a></td><td>Spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012811<a name=\"hpo-HP.580012811\"> </a></td><td>Wide nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0011832<a name=\"hpo-HP.580011832\"> </a></td><td>Narrow nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000288<a name=\"hpo-HP.580000288\"> </a></td><td>Abnormality of the philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002357<a name=\"hpo-HP.580002357\"> </a></td><td>Dysphasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000871<a name=\"hpo-HP.580000871\"> </a></td><td>Panhypopituitarism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000233<a name=\"hpo-HP.580000233\"> </a></td><td>Thin vermilion border</td></tr><tr><td style=\"white-space:nowrap\">HP:0003281<a name=\"hpo-HP.580003281\"> </a></td><td>Increased serum ferritin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010752<a name=\"hpo-HP.580010752\"> </a></td><td>Cleft mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000437<a name=\"hpo-HP.580000437\"> </a></td><td>Depressed nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000453<a name=\"hpo-HP.580000453\"> </a></td><td>Choanal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000863<a name=\"hpo-HP.580000863\"> </a></td><td>Central diabetes insipidus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000058<a name=\"hpo-HP.580000058\"> </a></td><td>Abnormality of the labia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007418<a name=\"hpo-HP.580007418\"> </a></td><td>Alopecia totalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100765<a name=\"hpo-HP.580100765\"> </a></td><td>Abnormality of the tonsils</td></tr><tr><td style=\"white-space:nowrap\">HP:0100747<a name=\"hpo-HP.580100747\"> </a></td><td>Macrodactyly of toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002109<a name=\"hpo-HP.580002109\"> </a></td><td>obsolete Abnormality of the bronchi</td></tr><tr><td style=\"white-space:nowrap\">HP:0011950<a name=\"hpo-HP.580011950\"> </a></td><td>Bronchiolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002850<a name=\"hpo-HP.580002850\"> </a></td><td>Decreased circulating total IgM</td></tr><tr><td style=\"white-space:nowrap\">HP:0001395<a name=\"hpo-HP.580001395\"> </a></td><td>Hepatic fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010701<a name=\"hpo-HP.580010701\"> </a></td><td>Abnormal immunoglobulin level</td></tr><tr><td style=\"white-space:nowrap\">HP:0009928<a name=\"hpo-HP.580009928\"> </a></td><td>Thick nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0010807<a name=\"hpo-HP.580010807\"> </a></td><td>Open bite</td></tr><tr><td style=\"white-space:nowrap\">HP:0002126<a name=\"hpo-HP.580002126\"> </a></td><td>Polymicrogyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002900<a name=\"hpo-HP.580002900\"> </a></td><td>Hypokalemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000155<a name=\"hpo-HP.580000155\"> </a></td><td>Oral ulcer</td></tr><tr><td style=\"white-space:nowrap\">HP:0000135<a name=\"hpo-HP.580000135\"> </a></td><td>Hypogonadism</td></tr><tr><td style=\"white-space:nowrap\">HP:0100783<a name=\"hpo-HP.580100783\"> </a></td><td>Breast aplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000336<a name=\"hpo-HP.580000336\"> </a></td><td>Prominent supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0010557<a name=\"hpo-HP.580010557\"> </a></td><td>Overlapping fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0005100<a name=\"hpo-HP.580005100\"> </a></td><td>Premature birth following premature rupture of fetal membranes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002594<a name=\"hpo-HP.580002594\"> </a></td><td>Pancreatic hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010109<a name=\"hpo-HP.580010109\"> </a></td><td>Short hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0002334<a name=\"hpo-HP.580002334\"> </a></td><td>Abnormality of the cerebellar vermis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003326<a name=\"hpo-HP.580003326\"> </a></td><td>Myalgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001645<a name=\"hpo-HP.580001645\"> </a></td><td>Sudden cardiac death</td></tr><tr><td style=\"white-space:nowrap\">HP:0001612<a name=\"hpo-HP.580001612\"> </a></td><td>Weak cry</td></tr><tr><td style=\"white-space:nowrap\">HP:0001618<a name=\"hpo-HP.580001618\"> </a></td><td>Dysphonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001336<a name=\"hpo-HP.580001336\"> </a></td><td>Myoclonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001283<a name=\"hpo-HP.580001283\"> </a></td><td>Bulbar palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002080<a name=\"hpo-HP.580002080\"> </a></td><td>Intention tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002174<a name=\"hpo-HP.580002174\"> </a></td><td>Postural tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002064<a name=\"hpo-HP.580002064\"> </a></td><td>Spastic gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0009800<a name=\"hpo-HP.580009800\"> </a></td><td>Maternal diabetes</td></tr><tr><td style=\"white-space:nowrap\">HP:0001662<a name=\"hpo-HP.580001662\"> </a></td><td>Bradycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006595<a name=\"hpo-HP.580006595\"> </a></td><td>Scapulohumeral synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005815<a name=\"hpo-HP.580005815\"> </a></td><td>Supernumerary ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000307<a name=\"hpo-HP.580000307\"> </a></td><td>Pointed chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0012371<a name=\"hpo-HP.580012371\"> </a></td><td>Hyperplasia of midface</td></tr><tr><td style=\"white-space:nowrap\">HP:0002643<a name=\"hpo-HP.580002643\"> </a></td><td>Neonatal respiratory distress</td></tr><tr><td style=\"white-space:nowrap\">HP:0002093<a name=\"hpo-HP.580002093\"> </a></td><td>Respiratory insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0010310<a name=\"hpo-HP.580010310\"> </a></td><td>Chylothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0006376<a name=\"hpo-HP.580006376\"> </a></td><td>Limited elbow flexion</td></tr><tr><td style=\"white-space:nowrap\">HP:0006467<a name=\"hpo-HP.580006467\"> </a></td><td>Limited shoulder movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010505<a name=\"hpo-HP.580010505\"> </a></td><td>Limitation of movement at ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0010501<a name=\"hpo-HP.580010501\"> </a></td><td>Limitation of knee mobility</td></tr><tr><td style=\"white-space:nowrap\">HP:0009896<a name=\"hpo-HP.580009896\"> </a></td><td>Abnormality of the antitragus</td></tr><tr><td style=\"white-space:nowrap\">HP:0004404<a name=\"hpo-HP.580004404\"> </a></td><td>Abnormal nipple morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011957<a name=\"hpo-HP.580011957\"> </a></td><td>Abnormal pectoral muscle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000777<a name=\"hpo-HP.580000777\"> </a></td><td>Abnormality of the thymus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000418<a name=\"hpo-HP.580000418\"> </a></td><td>Narrow nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0001572<a name=\"hpo-HP.580001572\"> </a></td><td>Macrodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002967<a name=\"hpo-HP.580002967\"> </a></td><td>Cubitus valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000988<a name=\"hpo-HP.580000988\"> </a></td><td>Skin rash</td></tr><tr><td style=\"white-space:nowrap\">HP:0009733<a name=\"hpo-HP.580009733\"> </a></td><td>Glioma</td></tr><tr><td style=\"white-space:nowrap\">HP:0012452<a name=\"hpo-HP.580012452\"> </a></td><td>Restless legs</td></tr><tr><td style=\"white-space:nowrap\">HP:0100031<a name=\"hpo-HP.580100031\"> </a></td><td>Neoplasm of the thyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0030127<a name=\"hpo-HP.580030127\"> </a></td><td>Endometriosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000123<a name=\"hpo-HP.580000123\"> </a></td><td>Nephritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001974<a name=\"hpo-HP.580001974\"> </a></td><td>Leukocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010976<a name=\"hpo-HP.580010976\"> </a></td><td>B lymphocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000010<a name=\"hpo-HP.580000010\"> </a></td><td>Recurrent urinary tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0100807<a name=\"hpo-HP.580100807\"> </a></td><td>Long fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0000653<a name=\"hpo-HP.580000653\"> </a></td><td>Sparse eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0000171<a name=\"hpo-HP.580000171\"> </a></td><td>Microglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002575<a name=\"hpo-HP.580002575\"> </a></td><td>Tracheoesophageal fistula</td></tr><tr><td style=\"white-space:nowrap\">HP:0009933<a name=\"hpo-HP.580009933\"> </a></td><td>Narrow naris</td></tr><tr><td style=\"white-space:nowrap\">HP:0000883<a name=\"hpo-HP.580000883\"> </a></td><td>Thin ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000121<a name=\"hpo-HP.580000121\"> </a></td><td>Nephrocalcinosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001349<a name=\"hpo-HP.580001349\"> </a></td><td>Facial diplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012037<a name=\"hpo-HP.580012037\"> </a></td><td>Pectoralis amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100560<a name=\"hpo-HP.580100560\"> </a></td><td>Upper limb asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0005684<a name=\"hpo-HP.580005684\"> </a></td><td>Distal arthrogryposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010722<a name=\"hpo-HP.580010722\"> </a></td><td>Asymmetry of the ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0009380<a name=\"hpo-HP.580009380\"> </a></td><td>Aplasia of the fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0001657<a name=\"hpo-HP.580001657\"> </a></td><td>Prolonged QT interval</td></tr><tr><td style=\"white-space:nowrap\">HP:0002040<a name=\"hpo-HP.580002040\"> </a></td><td>Esophageal varix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000613<a name=\"hpo-HP.580000613\"> </a></td><td>Photophobia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000561<a name=\"hpo-HP.580000561\"> </a></td><td>Absent eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002223<a name=\"hpo-HP.580002223\"> </a></td><td>Absent eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0002591<a name=\"hpo-HP.580002591\"> </a></td><td>Polyphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002373<a name=\"hpo-HP.580002373\"> </a></td><td>Febrile seizure (within the age range of 3 months to 6 years)</td></tr><tr><td style=\"white-space:nowrap\">HP:0002419<a name=\"hpo-HP.580002419\"> </a></td><td>Molar tooth sign on MRI</td></tr><tr><td style=\"white-space:nowrap\">HP:0001010<a name=\"hpo-HP.580001010\"> </a></td><td>Hypopigmentation of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0005772<a name=\"hpo-HP.580005772\"> </a></td><td>Aplasia/Hypoplasia of the tibia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002211<a name=\"hpo-HP.580002211\"> </a></td><td>White forelock</td></tr><tr><td style=\"white-space:nowrap\">HP:0007126<a name=\"hpo-HP.580007126\"> </a></td><td>Proximal amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003798<a name=\"hpo-HP.580003798\"> </a></td><td>Nemaline bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0006533<a name=\"hpo-HP.580006533\"> </a></td><td>Bronchodysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003391<a name=\"hpo-HP.580003391\"> </a></td><td>Gowers sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0000771<a name=\"hpo-HP.580000771\"> </a></td><td>Gynecomastia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100785<a name=\"hpo-HP.580100785\"> </a></td><td>Insomnia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010529<a name=\"hpo-HP.580010529\"> </a></td><td>Echolalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000363<a name=\"hpo-HP.580000363\"> </a></td><td>Abnormality of earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002612<a name=\"hpo-HP.580002612\"> </a></td><td>Congenital hepatic fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006721<a name=\"hpo-HP.580006721\"> </a></td><td>Acute lymphoblastic leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001958<a name=\"hpo-HP.580001958\"> </a></td><td>Nonketotic hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003457<a name=\"hpo-HP.580003457\"> </a></td><td>EMG abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0010636<a name=\"hpo-HP.580010636\"> </a></td><td>Schizencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005266<a name=\"hpo-HP.580005266\"> </a></td><td>Intestinal polyp</td></tr><tr><td style=\"white-space:nowrap\">HP:0200063<a name=\"hpo-HP.580200063\"> </a></td><td>Colorectal polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001762<a name=\"hpo-HP.580001762\"> </a></td><td>Talipes equinovarus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000056<a name=\"hpo-HP.580000056\"> </a></td><td>Abnormality of the clitoris</td></tr><tr><td style=\"white-space:nowrap\">HP:0008655<a name=\"hpo-HP.580008655\"> </a></td><td>Aplasia/Hypoplasia of the fallopian tube</td></tr><tr><td style=\"white-space:nowrap\">HP:0002072<a name=\"hpo-HP.580002072\"> </a></td><td>Chorea</td></tr><tr><td style=\"white-space:nowrap\">HP:0008734<a name=\"hpo-HP.580008734\"> </a></td><td>Decreased testicular size</td></tr><tr><td style=\"white-space:nowrap\">HP:0002136<a name=\"hpo-HP.580002136\"> </a></td><td>Broad-based gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0010958<a name=\"hpo-HP.580010958\"> </a></td><td>Bilateral renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002510<a name=\"hpo-HP.580002510\"> </a></td><td>Spastic tetraplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003234<a name=\"hpo-HP.580003234\"> </a></td><td>Decreased plasma carnitine</td></tr><tr><td style=\"white-space:nowrap\">HP:0000720<a name=\"hpo-HP.580000720\"> </a></td><td>Mood swings</td></tr><tr><td style=\"white-space:nowrap\">HP:0012638<a name=\"hpo-HP.580012638\"> </a></td><td>Abnormal nervous system physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002803<a name=\"hpo-HP.580002803\"> </a></td><td>Congenital contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0000152<a name=\"hpo-HP.580000152\"> </a></td><td>Abnormality of head or neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0004377<a name=\"hpo-HP.580004377\"> </a></td><td>Hematological neoplasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0100006<a name=\"hpo-HP.580100006\"> </a></td><td>Neoplasm of the central nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0012759<a name=\"hpo-HP.580012759\"> </a></td><td>Neurodevelopmental abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0011805<a name=\"hpo-HP.580011805\"> </a></td><td>Abnormal skeletal muscle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003634<a name=\"hpo-HP.580003634\"> </a></td><td>Amyoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001507<a name=\"hpo-HP.580001507\"> </a></td><td>Growth abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001939<a name=\"hpo-HP.580001939\"> </a></td><td>Abnormality of metabolism/homeostasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011013<a name=\"hpo-HP.580011013\"> </a></td><td>Abnormal circulating carbohydrate concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0410008<a name=\"hpo-HP.580410008\"> </a></td><td>Abnormality of the peripheral nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0200134<a name=\"hpo-HP.580200134\"> </a></td><td>Epileptic encephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001881<a name=\"hpo-HP.580001881\"> </a></td><td>Abnormal leukocyte morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0005549<a name=\"hpo-HP.580005549\"> </a></td><td>obsolete Congenital neutropenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004439<a name=\"hpo-HP.580004439\"> </a></td><td>Craniofacial dysostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012443<a name=\"hpo-HP.580012443\"> </a></td><td>Abnormality of brain morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000202<a name=\"hpo-HP.580000202\"> </a></td><td>Oral cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0011842<a name=\"hpo-HP.580011842\"> </a></td><td>Abnormality of skeletal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003808<a name=\"hpo-HP.580003808\"> </a></td><td>Abnormal muscle tone</td></tr><tr><td style=\"white-space:nowrap\">HP:0001574<a name=\"hpo-HP.580001574\"> </a></td><td>Abnormality of the integument</td></tr><tr><td style=\"white-space:nowrap\">HP:0030056<a name=\"hpo-HP.580030056\"> </a></td><td>Uncombable hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0003549<a name=\"hpo-HP.580003549\"> </a></td><td>Abnormality of connective tissue</td></tr><tr><td style=\"white-space:nowrap\">HP:0030875<a name=\"hpo-HP.580030875\"> </a></td><td>Abnormality of pulmonary circulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000118<a name=\"hpo-HP.580000118\"> </a></td><td>Phenotypic abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0012469<a name=\"hpo-HP.580012469\"> </a></td><td>Infantile spasms</td></tr><tr><td style=\"white-space:nowrap\">HP:0032894<a name=\"hpo-HP.580032894\"> </a></td><td>Seizure precipitated by febrile infection</td></tr><tr><td style=\"white-space:nowrap\">HP:0100661<a name=\"hpo-HP.580100661\"> </a></td><td>Trigeminal neuralgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012207<a name=\"hpo-HP.580012207\"> </a></td><td>Reduced sperm motility</td></tr><tr><td style=\"white-space:nowrap\">HP:0000798<a name=\"hpo-HP.580000798\"> </a></td><td>Oligospermia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012864<a name=\"hpo-HP.580012864\"> </a></td><td>Abnormal sperm morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008232<a name=\"hpo-HP.580008232\"> </a></td><td>Elevated circulating follicle stimulating hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0040306<a name=\"hpo-HP.580040306\"> </a></td><td>Decreased male libido</td></tr><tr><td style=\"white-space:nowrap\">HP:0012208<a name=\"hpo-HP.580012208\"> </a></td><td>Immotile sperm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000027<a name=\"hpo-HP.580000027\"> </a></td><td>Azoospermia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000870<a name=\"hpo-HP.580000870\"> </a></td><td>Increased circulating prolactin concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0008187<a name=\"hpo-HP.580008187\"> </a></td><td>Absence of secondary sex characteristics</td></tr><tr><td style=\"white-space:nowrap\">HP:0010469<a name=\"hpo-HP.580010469\"> </a></td><td>Absent testis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011969<a name=\"hpo-HP.580011969\"> </a></td><td>Elevated circulating luteinizing hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0040171<a name=\"hpo-HP.580040171\"> </a></td><td>Decreased serum testosterone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0003251<a name=\"hpo-HP.580003251\"> </a></td><td>Male infertility</td></tr><tr><td style=\"white-space:nowrap\">HP:0009804<a name=\"hpo-HP.580009804\"> </a></td><td>Reduced number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000548<a name=\"hpo-HP.580000548\"> </a></td><td>Cone/cone-rod dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000546<a name=\"hpo-HP.580000546\"> </a></td><td>Retinal degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0008002<a name=\"hpo-HP.580008002\"> </a></td><td>Abnormality of macular pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000608<a name=\"hpo-HP.580000608\"> </a></td><td>Macular degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0030611<a name=\"hpo-HP.580030611\"> </a></td><td>Retinal pigment epithelial loss on macular OCT</td></tr><tr><td style=\"white-space:nowrap\">HP:0001135<a name=\"hpo-HP.580001135\"> </a></td><td>Chorioretinal dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030468<a name=\"hpo-HP.580030468\"> </a></td><td>Abnormal multifocal electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:00030532<a name=\"hpo-HP.5800030532\"> </a></td><td>Visual acuity test abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0007401<a name=\"hpo-HP.580007401\"> </a></td><td>Macular atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030466<a name=\"hpo-HP.580030466\"> </a></td><td>Abnormal full-field electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:007737<a name=\"hpo-HP.58007737\"> </a></td><td>Bone spicule pigmentation of the retina</td></tr><tr><td style=\"white-space:nowrap\">HP:0011342<a name=\"hpo-HP.580011342\"> </a></td><td>Mild global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0030610<a name=\"hpo-HP.580030610\"> </a></td><td>Photoreceptor outer segment loss on macular OCT</td></tr><tr><td style=\"white-space:nowrap\">HP:0007722<a name=\"hpo-HP.580007722\"> </a></td><td>Retinal pigment epithelial atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030493<a name=\"hpo-HP.580030493\"> </a></td><td>Abnormality of foveal pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0007843<a name=\"hpo-HP.580007843\"> </a></td><td>Attenuation of retinal blood vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0007754<a name=\"hpo-HP.580007754\"> </a></td><td>Macular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011509<a name=\"hpo-HP.580011509\"> </a></td><td>Macular hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0008527<a name=\"hpo-HP.580008527\"> </a></td><td>Congenital sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0200070<a name=\"hpo-HP.580200070\"> </a></td><td>Peripheral retinal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0007793<a name=\"hpo-HP.580007793\"> </a></td><td>Granular macular appearance</td></tr><tr><td style=\"white-space:nowrap\">HP:0007987<a name=\"hpo-HP.580007987\"> </a></td><td>Progressive visual field defects</td></tr><tr><td style=\"white-space:nowrap\">HP:0100817<a name=\"hpo-HP.580100817\"> </a></td><td>Renovascular hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0007868<a name=\"hpo-HP.580007868\"> </a></td><td>obsolete Age-related macular degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0030527<a name=\"hpo-HP.580030527\"> </a></td><td>Very severe constriction of peripheral visual field</td></tr><tr><td style=\"white-space:nowrap\">HP:0030551<a name=\"hpo-HP.580030551\"> </a></td><td>Visual acuity light perception with projection</td></tr><tr><td style=\"white-space:nowrap\">HP:0011505<a name=\"hpo-HP.580011505\"> </a></td><td>Cystoid macular edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0010442<a name=\"hpo-HP.580010442\"> </a></td><td>Polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0007642<a name=\"hpo-HP.580007642\"> </a></td><td>Congenital stationary night blindness</td></tr><tr><td style=\"white-space:nowrap\">HP:0009073<a name=\"hpo-HP.580009073\"> </a></td><td>Progressive proximal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003741<a name=\"hpo-HP.580003741\"> </a></td><td>Congenital muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100299<a name=\"hpo-HP.580100299\"> </a></td><td>Muscle fiber inclusion bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0003540<a name=\"hpo-HP.580003540\"> </a></td><td>Impaired platelet aggregation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010489<a name=\"hpo-HP.580010489\"> </a></td><td>Absent palmar crease</td></tr><tr><td style=\"white-space:nowrap\">HP:0009824<a name=\"hpo-HP.580009824\"> </a></td><td>Upper limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002395<a name=\"hpo-HP.580002395\"> </a></td><td>Lower limb hyperreflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001138<a name=\"hpo-HP.580001138\"> </a></td><td>Optic neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0007103<a name=\"hpo-HP.580007103\"> </a></td><td>Hypointensity of cerebral white matter on MRI</td></tr><tr><td style=\"white-space:nowrap\">HP:0003458<a name=\"hpo-HP.580003458\"> </a></td><td>EMG: myopathic abnormalities</td></tr><tr><td style=\"white-space:nowrap\">HP:0002987<a name=\"hpo-HP.580002987\"> </a></td><td>Elbow flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0006466<a name=\"hpo-HP.580006466\"> </a></td><td>Ankle flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0008458<a name=\"hpo-HP.580008458\"> </a></td><td>Progressive congenital scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000473<a name=\"hpo-HP.580000473\"> </a></td><td>Torticollis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011800<a name=\"hpo-HP.580011800\"> </a></td><td>Midface retrusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000597<a name=\"hpo-HP.580000597\"> </a></td><td>Ophthalmoparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005853<a name=\"hpo-HP.580005853\"> </a></td><td>Congenital foot contraction deformities</td></tr><tr><td style=\"white-space:nowrap\">HP:0007002<a name=\"hpo-HP.580007002\"> </a></td><td>Motor axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003327<a name=\"hpo-HP.580003327\"> </a></td><td>Axial muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003306<a name=\"hpo-HP.580003306\"> </a></td><td>Spinal rigidity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002068<a name=\"hpo-HP.580002068\"> </a></td><td>Neuromuscular dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001002<a name=\"hpo-HP.580001002\"> </a></td><td>obsolete Decreased subcutaneous fat</td></tr><tr><td style=\"white-space:nowrap\">HP:0002880<a name=\"hpo-HP.580002880\"> </a></td><td>obsolete Respiratory difficulties</td></tr><tr><td style=\"white-space:nowrap\">HP:0006829<a name=\"hpo-HP.580006829\"> </a></td><td>Severe muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011448<a name=\"hpo-HP.580011448\"> </a></td><td>Ankle clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0003487<a name=\"hpo-HP.580003487\"> </a></td><td>Babinski sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0002378<a name=\"hpo-HP.580002378\"> </a></td><td>Hand tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002747<a name=\"hpo-HP.580002747\"> </a></td><td>Respiratory insufficiency due to muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002579<a name=\"hpo-HP.580002579\"> </a></td><td>Gastrointestinal dysmotility</td></tr><tr><td style=\"white-space:nowrap\">HP:0001041<a name=\"hpo-HP.580001041\"> </a></td><td>Facial erythema</td></tr><tr><td style=\"white-space:nowrap\">HP:0040180<a name=\"hpo-HP.580040180\"> </a></td><td>Hyperkeratosis pilaris</td></tr><tr><td style=\"white-space:nowrap\">HP:0001382<a name=\"hpo-HP.580001382\"> </a></td><td>Joint hypermobility</td></tr><tr><td style=\"white-space:nowrap\">HP:0003722<a name=\"hpo-HP.580003722\"> </a></td><td>Neck flexor weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003323<a name=\"hpo-HP.580003323\"> </a></td><td>Progressive muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002380<a name=\"hpo-HP.580002380\"> </a></td><td>Fasciculations</td></tr><tr><td style=\"white-space:nowrap\">HP:0012785<a name=\"hpo-HP.580012785\"> </a></td><td>Flexion contracture of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0007936<a name=\"hpo-HP.580007936\"> </a></td><td>Restrictive external ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030319<a name=\"hpo-HP.580030319\"> </a></td><td>Weakness of facial musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0008936<a name=\"hpo-HP.580008936\"> </a></td><td>Muscular hypotonia of the trunk</td></tr><tr><td style=\"white-space:nowrap\">HP:0030230<a name=\"hpo-HP.580030230\"> </a></td><td>Central core regions in muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0011471<a name=\"hpo-HP.580011471\"> </a></td><td>Gastrostomy tube feeding in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001290<a name=\"hpo-HP.580001290\"> </a></td><td>Generalized hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002421<a name=\"hpo-HP.580002421\"> </a></td><td>Poor head control</td></tr><tr><td style=\"white-space:nowrap\">HP:0010301<a name=\"hpo-HP.580010301\"> </a></td><td>Spinal dysraphism</td></tr><tr><td style=\"white-space:nowrap\">HP:0004303<a name=\"hpo-HP.580004303\"> </a></td><td>Abnormal muscle fiber morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009046<a name=\"hpo-HP.580009046\"> </a></td><td>Difficulty running</td></tr><tr><td style=\"white-space:nowrap\">HP:0003715<a name=\"hpo-HP.580003715\"> </a></td><td>Myofibrillar myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000467<a name=\"hpo-HP.580000467\"> </a></td><td>Neck muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001999<a name=\"hpo-HP.580001999\"> </a></td><td>Abnormal facial shape</td></tr><tr><td style=\"white-space:nowrap\">HP:0002751<a name=\"hpo-HP.580002751\"> </a></td><td>Kyphoscoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030223<a name=\"hpo-HP.580030223\"> </a></td><td>Perseveration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002344<a name=\"hpo-HP.580002344\"> </a></td><td>Progressive neurologic deterioration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002522<a name=\"hpo-HP.580002522\"> </a></td><td>Areflexia of lower limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0003805<a name=\"hpo-HP.580003805\"> </a></td><td>Rimmed vacuoles</td></tr><tr><td style=\"white-space:nowrap\">HP:0005781<a name=\"hpo-HP.580005781\"> </a></td><td>Contractures of the large joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0040083<a name=\"hpo-HP.580040083\"> </a></td><td>Toe walking</td></tr><tr><td style=\"white-space:nowrap\">HP:0003749<a name=\"hpo-HP.580003749\"> </a></td><td>Pelvic girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0012444<a name=\"hpo-HP.580012444\"> </a></td><td>Brain atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003738<a name=\"hpo-HP.580003738\"> </a></td><td>Exercise-induced myalgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003756<a name=\"hpo-HP.580003756\"> </a></td><td>Skeletal myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002492<a name=\"hpo-HP.580002492\"> </a></td><td>Morphological abnormality of the corticospinal tract</td></tr><tr><td style=\"white-space:nowrap\">HP:0100302<a name=\"hpo-HP.580100302\"> </a></td><td>Muscle fiber tubuloreticular inclusions</td></tr><tr><td style=\"white-space:nowrap\">HP:0006817<a name=\"hpo-HP.580006817\"> </a></td><td>Aplasia/Hypoplasia of the cerebellar vermis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003473<a name=\"hpo-HP.580003473\"> </a></td><td>Fatigable weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002077<a name=\"hpo-HP.580002077\"> </a></td><td>Migraine with aura</td></tr><tr><td style=\"white-space:nowrap\">HP:0100559<a name=\"hpo-HP.580100559\"> </a></td><td>Lower limb asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0002079<a name=\"hpo-HP.580002079\"> </a></td><td>Hypoplasia of the corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002804<a name=\"hpo-HP.580002804\"> </a></td><td>Arthrogryposis multiplex congenita</td></tr><tr><td style=\"white-space:nowrap\">HP:0011623<a name=\"hpo-HP.580011623\"> </a></td><td>Muscular ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002191<a name=\"hpo-HP.580002191\"> </a></td><td>Progressive spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003390<a name=\"hpo-HP.580003390\"> </a></td><td>Sensory axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006986<a name=\"hpo-HP.580006986\"> </a></td><td>Upper limb spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002464<a name=\"hpo-HP.580002464\"> </a></td><td>Spastic dysarthria</td></tr><tr><td style=\"white-space:nowrap\">HP:0001308<a name=\"hpo-HP.580001308\"> </a></td><td>Tongue fasciculations</td></tr><tr><td style=\"white-space:nowrap\">HP:0007010<a name=\"hpo-HP.580007010\"> </a></td><td>Poor fine motor coordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0003737<a name=\"hpo-HP.580003737\"> </a></td><td>Mitochondrial myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0008012<a name=\"hpo-HP.580008012\"> </a></td><td>obsolete Congenital myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008872<a name=\"hpo-HP.580008872\"> </a></td><td>Feeding difficulties in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005750<a name=\"hpo-HP.580005750\"> </a></td><td>Contractures of the joints of the lower limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0009067<a name=\"hpo-HP.580009067\"> </a></td><td>Progressive spinal muscular atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001623<a name=\"hpo-HP.580001623\"> </a></td><td>Breech presentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001374<a name=\"hpo-HP.580001374\"> </a></td><td>Congenital hip dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002359<a name=\"hpo-HP.580002359\"> </a></td><td>Frequent falls</td></tr><tr><td style=\"white-space:nowrap\">HP:0003803<a name=\"hpo-HP.580003803\"> </a></td><td>Type 1 muscle fiber predominance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011410<a name=\"hpo-HP.580011410\"> </a></td><td>Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0008947<a name=\"hpo-HP.580008947\"> </a></td><td>Infantile muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100501<a name=\"hpo-HP.580100501\"> </a></td><td>Recurrent bronchiolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003789<a name=\"hpo-HP.580003789\"> </a></td><td>Minicore myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000544<a name=\"hpo-HP.580000544\"> </a></td><td>External ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001605<a name=\"hpo-HP.580001605\"> </a></td><td>Vocal cord paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003712<a name=\"hpo-HP.580003712\"> </a></td><td>Skeletal muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0012507<a name=\"hpo-HP.580012507\"> </a></td><td>Weakness of orbicularis oculi muscle</td></tr><tr><td style=\"white-space:nowrap\">HP:0009816<a name=\"hpo-HP.580009816\"> </a></td><td>Lower limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0008935<a name=\"hpo-HP.580008935\"> </a></td><td>Generalized neonatal hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003484<a name=\"hpo-HP.580003484\"> </a></td><td>Upper limb muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0008331<a name=\"hpo-HP.580008331\"> </a></td><td>Elevated creatine kinase after exercise</td></tr><tr><td style=\"white-space:nowrap\">HP:0001315<a name=\"hpo-HP.580001315\"> </a></td><td>Reduced tendon reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0012473<a name=\"hpo-HP.580012473\"> </a></td><td>Tongue atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003273<a name=\"hpo-HP.580003273\"> </a></td><td>Hip contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0006380<a name=\"hpo-HP.580006380\"> </a></td><td>Knee flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0003752<a name=\"hpo-HP.580003752\"> </a></td><td>Episodic flaccid weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0100298<a name=\"hpo-HP.580100298\"> </a></td><td>Motheaten muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0003693<a name=\"hpo-HP.580003693\"> </a></td><td>Distal amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002167<a name=\"hpo-HP.580002167\"> </a></td><td>Neurological speech impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0003388<a name=\"hpo-HP.580003388\"> </a></td><td>Easy fatigability</td></tr><tr><td style=\"white-space:nowrap\">HP:0001348<a name=\"hpo-HP.580001348\"> </a></td><td>Brisk reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0003445<a name=\"hpo-HP.580003445\"> </a></td><td>EMG: neuropathic changes</td></tr><tr><td style=\"white-space:nowrap\">HP:0009063<a name=\"hpo-HP.580009063\"> </a></td><td>Progressive distal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003720<a name=\"hpo-HP.580003720\"> </a></td><td>Generalized muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002493<a name=\"hpo-HP.580002493\"> </a></td><td>Upper motor neuron dysfunction</td></tr><tr><td style=\"white-space:nowrap\">HP:0012448<a name=\"hpo-HP.580012448\"> </a></td><td>Delayed myelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0001338<a name=\"hpo-HP.580001338\"> </a></td><td>Partial agenesis of the corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0006879<a name=\"hpo-HP.580006879\"> </a></td><td>Pontocerebellar atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0200101<a name=\"hpo-HP.580200101\"> </a></td><td>Decreased/absent ankle reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0009020<a name=\"hpo-HP.580009020\"> </a></td><td>Exercise-induced muscle fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002067<a name=\"hpo-HP.580002067\"> </a></td><td>Bradykinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012751<a name=\"hpo-HP.580012751\"> </a></td><td>Abnormal basal ganglia MRI signal intensity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003355<a name=\"hpo-HP.580003355\"> </a></td><td>Aminoaciduria</td></tr><tr><td style=\"white-space:nowrap\">HP:0012450<a name=\"hpo-HP.580012450\"> </a></td><td>Chronic constipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011834<a name=\"hpo-HP.580011834\"> </a></td><td>Moyamoya phenomenon</td></tr><tr><td style=\"white-space:nowrap\">HP:0001297<a name=\"hpo-HP.580001297\"> </a></td><td>Stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0200049<a name=\"hpo-HP.580200049\"> </a></td><td>Upper limb hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008981<a name=\"hpo-HP.580008981\"> </a></td><td>Calf muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006785<a name=\"hpo-HP.580006785\"> </a></td><td>Limb-girdle muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006957<a name=\"hpo-HP.580006957\"> </a></td><td>Loss of ability to walk</td></tr><tr><td style=\"white-space:nowrap\">HP:0030098<a name=\"hpo-HP.580030098\"> </a></td><td>Reduced muscle dystrophin expression</td></tr><tr><td style=\"white-space:nowrap\">HP:0030115<a name=\"hpo-HP.580030115\"> </a></td><td>Reduced muscle fiber dysferlin</td></tr><tr><td style=\"white-space:nowrap\">HP:0002058<a name=\"hpo-HP.580002058\"> </a></td><td>Myopathic facies</td></tr><tr><td style=\"white-space:nowrap\">HP:0007858<a name=\"hpo-HP.580007858\"> </a></td><td>Chorioretinal lacunae</td></tr><tr><td style=\"white-space:nowrap\">HP:0006657<a name=\"hpo-HP.580006657\"> </a></td><td>Hypoplasia of first ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0007165<a name=\"hpo-HP.580007165\"> </a></td><td>Periventricular heterotopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0009779<a name=\"hpo-HP.580009779\"> </a></td><td>3-4 toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010665<a name=\"hpo-HP.580010665\"> </a></td><td>Bilateral coxa valga</td></tr><tr><td style=\"white-space:nowrap\">HP:0007598<a name=\"hpo-HP.580007598\"> </a></td><td>Bilateral single transverse palmar creases</td></tr><tr><td style=\"white-space:nowrap\">HP:0006101<a name=\"hpo-HP.580006101\"> </a></td><td>Finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010511<a name=\"hpo-HP.580010511\"> </a></td><td>Long toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002370<a name=\"hpo-HP.580002370\"> </a></td><td>Poor coordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0000480<a name=\"hpo-HP.580000480\"> </a></td><td>Retinal coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001770<a name=\"hpo-HP.580001770\"> </a></td><td>Toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010851<a name=\"hpo-HP.580010851\"> </a></td><td>EEG with burst suppression</td></tr><tr><td style=\"white-space:nowrap\">HP:0002791<a name=\"hpo-HP.580002791\"> </a></td><td>Hypoventilation</td></tr><tr><td style=\"white-space:nowrap\">HP:0040075<a name=\"hpo-HP.580040075\"> </a></td><td>Hypopituitarism</td></tr><tr><td style=\"white-space:nowrap\">HP:0012506<a name=\"hpo-HP.580012506\"> </a></td><td>Small pituitary gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000538<a name=\"hpo-HP.580000538\"> </a></td><td>Pseudopapilledema</td></tr><tr><td style=\"white-space:nowrap\">HP:0012717<a name=\"hpo-HP.580012717\"> </a></td><td>Severe conductive hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001370<a name=\"hpo-HP.580001370\"> </a></td><td>Rheumatoid arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000016<a name=\"hpo-HP.580000016\"> </a></td><td>Urinary retention</td></tr><tr><td style=\"white-space:nowrap\">HP:0012537<a name=\"hpo-HP.580012537\"> </a></td><td>Food intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011297<a name=\"hpo-HP.580011297\"> </a></td><td>Abnormal digit morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001273<a name=\"hpo-HP.580001273\"> </a></td><td>Abnormal corpus callosum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0030148<a name=\"hpo-HP.580030148\"> </a></td><td>Heart murmur</td></tr><tr><td style=\"white-space:nowrap\">HP:0045018<a name=\"hpo-HP.580045018\"> </a></td><td>Partial duplication of eyebrows</td></tr><tr><td style=\"white-space:nowrap\">HP:0008998<a name=\"hpo-HP.580008998\"> </a></td><td>Pectoralis hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001707<a name=\"hpo-HP.580001707\"> </a></td><td>Abnormal right ventricle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001540<a name=\"hpo-HP.580001540\"> </a></td><td>Diastasis recti</td></tr><tr><td style=\"white-space:nowrap\">HP:0100693<a name=\"hpo-HP.580100693\"> </a></td><td>Iridodonesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002265<a name=\"hpo-HP.580002265\"> </a></td><td>Large fleshy ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001132<a name=\"hpo-HP.580001132\"> </a></td><td>Lens subluxation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004927<a name=\"hpo-HP.580004927\"> </a></td><td>Pulmonary artery dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005619<a name=\"hpo-HP.580005619\"> </a></td><td>Thoracolumbar kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008619<a name=\"hpo-HP.580008619\"> </a></td><td>Bilateral sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001045<a name=\"hpo-HP.580001045\"> </a></td><td>Vitiligo</td></tr><tr><td style=\"white-space:nowrap\">HP:0009124<a name=\"hpo-HP.580009124\"> </a></td><td>Abnormal adipose tissue morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002979<a name=\"hpo-HP.580002979\"> </a></td><td>Bowing of the legs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000455<a name=\"hpo-HP.580000455\"> </a></td><td>Broad nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001007<a name=\"hpo-HP.580001007\"> </a></td><td>Hirsutism</td></tr><tr><td style=\"white-space:nowrap\">HP:0010314<a name=\"hpo-HP.580010314\"> </a></td><td>Premature thelarche</td></tr><tr><td style=\"white-space:nowrap\">HP:0000075<a name=\"hpo-HP.580000075\"> </a></td><td>Renal duplication</td></tr><tr><td style=\"white-space:nowrap\">HP:0000368<a name=\"hpo-HP.580000368\"> </a></td><td>Low-set, posteriorly rotated ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001052<a name=\"hpo-HP.580001052\"> </a></td><td>Nevus flammeus</td></tr><tr><td style=\"white-space:nowrap\">HP:0200048<a name=\"hpo-HP.580200048\"> </a></td><td>Cyanotic episode</td></tr><tr><td style=\"white-space:nowrap\">HP:0001902<a name=\"hpo-HP.580001902\"> </a></td><td>Giant platelets</td></tr><tr><td style=\"white-space:nowrap\">HP:0030043<a name=\"hpo-HP.580030043\"> </a></td><td>Hip subluxation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002938<a name=\"hpo-HP.580002938\"> </a></td><td>Lumbar hyperlordosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030084<a name=\"hpo-HP.580030084\"> </a></td><td>Clinodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005560<a name=\"hpo-HP.580005560\"> </a></td><td>Imbalanced hemoglobin synthesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001539<a name=\"hpo-HP.580001539\"> </a></td><td>Omphalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0009778<a name=\"hpo-HP.580009778\"> </a></td><td>Short thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002277<a name=\"hpo-HP.580002277\"> </a></td><td>Horner syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0011701<a name=\"hpo-HP.580011701\"> </a></td><td>Multifocal atrial tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005274<a name=\"hpo-HP.580005274\"> </a></td><td>Prominent nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001262<a name=\"hpo-HP.580001262\"> </a></td><td>Excessive daytime somnolence</td></tr><tr><td style=\"white-space:nowrap\">HP:0001285<a name=\"hpo-HP.580001285\"> </a></td><td>Spastic tetraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012171<a name=\"hpo-HP.580012171\"> </a></td><td>Stereotypical hand wringing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002518<a name=\"hpo-HP.580002518\"> </a></td><td>Abnormality of the periventricular white matter</td></tr><tr><td style=\"white-space:nowrap\">HP:0005692<a name=\"hpo-HP.580005692\"> </a></td><td>Joint hyperflexibility</td></tr><tr><td style=\"white-space:nowrap\">HP:0007440<a name=\"hpo-HP.580007440\"> </a></td><td>Generalized hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001805<a name=\"hpo-HP.580001805\"> </a></td><td>Onychogryposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011945<a name=\"hpo-HP.580011945\"> </a></td><td>Bronchiolitis obliterans organizing pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003763<a name=\"hpo-HP.580003763\"> </a></td><td>Bruxism</td></tr><tr><td style=\"white-space:nowrap\">HP:0010500<a name=\"hpo-HP.580010500\"> </a></td><td>Hyperextensibility of the knee</td></tr><tr><td style=\"white-space:nowrap\">HP:0040115<a name=\"hpo-HP.580040115\"> </a></td><td>Abnormality of the Eustachian tube</td></tr><tr><td style=\"white-space:nowrap\">HP:0008751<a name=\"hpo-HP.580008751\"> </a></td><td>Laryngeal cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0000403<a name=\"hpo-HP.580000403\"> </a></td><td>Recurrent otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0001787<a name=\"hpo-HP.580001787\"> </a></td><td>Abnormal delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0002571<a name=\"hpo-HP.580002571\"> </a></td><td>Achalasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002615<a name=\"hpo-HP.580002615\"> </a></td><td>Hypotension</td></tr><tr><td style=\"white-space:nowrap\">HP:0003550<a name=\"hpo-HP.580003550\"> </a></td><td>Predominantly lower limb lymphedema</td></tr><tr><td style=\"white-space:nowrap\">HP:0030363<a name=\"hpo-HP.580030363\"> </a></td><td>Primary Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0001727<a name=\"hpo-HP.580001727\"> </a></td><td>Thromboembolic stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0100603<a name=\"hpo-HP.580100603\"> </a></td><td>Toxemia of pregnancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0010836<a name=\"hpo-HP.580010836\"> </a></td><td>Abnormal circulating copper concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0000356<a name=\"hpo-HP.580000356\"> </a></td><td>Abnormality of the outer ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0002197<a name=\"hpo-HP.580002197\"> </a></td><td>Generalized-onset seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011436<a name=\"hpo-HP.580011436\"> </a></td><td>Abnormal maternal serum screening</td></tr><tr><td style=\"white-space:nowrap\">HP:0003517<a name=\"hpo-HP.580003517\"> </a></td><td>Birth length greater than 97th percentile</td></tr><tr><td style=\"white-space:nowrap\">HP:0003561<a name=\"hpo-HP.580003561\"> </a></td><td>Birth length less than 3rd percentile</td></tr><tr><td style=\"white-space:nowrap\">HP:0012188<a name=\"hpo-HP.580012188\"> </a></td><td>Hyperemesis gravidarum</td></tr><tr><td style=\"white-space:nowrap\">HP:0010519<a name=\"hpo-HP.580010519\"> </a></td><td>Increased fetal movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0030244<a name=\"hpo-HP.580030244\"> </a></td><td>Maternal fever in pregnancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0008071<a name=\"hpo-HP.580008071\"> </a></td><td>Maternal hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0100622<a name=\"hpo-HP.580100622\"> </a></td><td>Maternal seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011438<a name=\"hpo-HP.580011438\"> </a></td><td>Maternal teratogenic exposure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001998<a name=\"hpo-HP.580001998\"> </a></td><td>Neonatal hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0040187<a name=\"hpo-HP.580040187\"> </a></td><td>Neonatal sepsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002033<a name=\"hpo-HP.580002033\"> </a></td><td>Poor suck</td></tr><tr><td style=\"white-space:nowrap\">HP:0006579<a name=\"hpo-HP.580006579\"> </a></td><td>Prolonged neonatal jaundice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001724<a name=\"hpo-HP.580001724\"> </a></td><td>obsolete Aortic dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010621<a name=\"hpo-HP.580010621\"> </a></td><td>Cutaneous syndactyly of toes</td></tr><tr><td style=\"white-space:nowrap\">HP:0001880<a name=\"hpo-HP.580001880\"> </a></td><td>Eosinophilia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000162<a name=\"hpo-HP.580000162\"> </a></td><td>Glossoptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100578<a name=\"hpo-HP.580100578\"> </a></td><td>Lipoatrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002562<a name=\"hpo-HP.580002562\"> </a></td><td>Low-set nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0012893<a name=\"hpo-HP.580012893\"> </a></td><td>Neck muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001027<a name=\"hpo-HP.580001027\"> </a></td><td>Soft, doughy skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0100738<a name=\"hpo-HP.580100738\"> </a></td><td>Abnormal eating behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0007328<a name=\"hpo-HP.580007328\"> </a></td><td>Impaired pain sensation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002878<a name=\"hpo-HP.580002878\"> </a></td><td>Respiratory failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001776<a name=\"hpo-HP.580001776\"> </a></td><td>Bilateral talipes equinovarus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001360<a name=\"hpo-HP.580001360\"> </a></td><td>Holoprosencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001973<a name=\"hpo-HP.580001973\"> </a></td><td>Autoimmune thrombocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100749<a name=\"hpo-HP.580100749\"> </a></td><td>Chest pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0012531<a name=\"hpo-HP.580012531\"> </a></td><td>Pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0007585<a name=\"hpo-HP.580007585\"> </a></td><td>Skin fragility with non-scarring blistering</td></tr><tr><td style=\"white-space:nowrap\">HP:0002108<a name=\"hpo-HP.580002108\"> </a></td><td>Spontaneous pneumothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0006562<a name=\"hpo-HP.580006562\"> </a></td><td>Viral hepatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012647<a name=\"hpo-HP.580012647\"> </a></td><td>Abnormal inflammatory response</td></tr><tr><td style=\"white-space:nowrap\">HP:0012088<a name=\"hpo-HP.580012088\"> </a></td><td>Abnormal urinary odor</td></tr><tr><td style=\"white-space:nowrap\">HP:0011458<a name=\"hpo-HP.580011458\"> </a></td><td>Abdominal symptom</td></tr><tr><td style=\"white-space:nowrap\">HP:0002829<a name=\"hpo-HP.580002829\"> </a></td><td>Arthralgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010783<a name=\"hpo-HP.580010783\"> </a></td><td>Erythema</td></tr><tr><td style=\"white-space:nowrap\">HP:0010307<a name=\"hpo-HP.580010307\"> </a></td><td>Stridor</td></tr><tr><td style=\"white-space:nowrap\">HP:0001269<a name=\"hpo-HP.580001269\"> </a></td><td>Hemiparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006532<a name=\"hpo-HP.580006532\"> </a></td><td>Recurrent pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002580<a name=\"hpo-HP.580002580\"> </a></td><td>Volvulus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012387<a name=\"hpo-HP.580012387\"> </a></td><td>Bronchitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001266<a name=\"hpo-HP.580001266\"> </a></td><td>Choreoathetosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001531<a name=\"hpo-HP.580001531\"> </a></td><td>Failure to thrive in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011470<a name=\"hpo-HP.580011470\"> </a></td><td>Nasogastric tube feeding in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001361<a name=\"hpo-HP.580001361\"> </a></td><td>Nystagmus-induced head nodding</td></tr><tr><td style=\"white-space:nowrap\">HP:0001997<a name=\"hpo-HP.580001997\"> </a></td><td>Gout</td></tr><tr><td style=\"white-space:nowrap\">HP:0000965<a name=\"hpo-HP.580000965\"> </a></td><td>Cutis marmorata</td></tr><tr><td style=\"white-space:nowrap\">HP:0010316<a name=\"hpo-HP.580010316\"> </a></td><td>Ebstein anomaly of the tricuspid valve</td></tr><tr><td style=\"white-space:nowrap\">HP:0010543<a name=\"hpo-HP.580010543\"> </a></td><td>Opsoclonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0007704<a name=\"hpo-HP.580007704\"> </a></td><td>Paroxysmal involuntary eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0030364<a name=\"hpo-HP.580030364\"> </a></td><td>Secondary Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0007738<a name=\"hpo-HP.580007738\"> </a></td><td>Uncontrolled eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0030366<a name=\"hpo-HP.580030366\"> </a></td><td>Delivery by Odon device</td></tr><tr><td style=\"white-space:nowrap\">HP:0011411<a name=\"hpo-HP.580011411\"> </a></td><td>Forceps delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0030369<a name=\"hpo-HP.580030369\"> </a></td><td>Induced vaginal delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0005268<a name=\"hpo-HP.580005268\"> </a></td><td>Spontaneous abortion</td></tr><tr><td style=\"white-space:nowrap\">HP:0030365<a name=\"hpo-HP.580030365\"> </a></td><td>Vaginal birth after Caesarian</td></tr><tr><td style=\"white-space:nowrap\">HP:0011412<a name=\"hpo-HP.580011412\"> </a></td><td>Ventouse delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0002572<a name=\"hpo-HP.580002572\"> </a></td><td>Episodic vomiting</td></tr><tr><td style=\"white-space:nowrap\">HP:0030350<a name=\"hpo-HP.580030350\"> </a></td><td>Erythematous papule</td></tr><tr><td style=\"white-space:nowrap\">HP:0001386<a name=\"hpo-HP.580001386\"> </a></td><td>Joint swelling</td></tr><tr><td style=\"white-space:nowrap\">HP:0000147<a name=\"hpo-HP.580000147\"> </a></td><td>Polycystic ovaries</td></tr><tr><td style=\"white-space:nowrap\">HP:0012412<a name=\"hpo-HP.580012412\"> </a></td><td>Premature adrenarche</td></tr><tr><td style=\"white-space:nowrap\">HP:0004411<a name=\"hpo-HP.580004411\"> </a></td><td>Deviated nasal septum</td></tr><tr><td style=\"white-space:nowrap\">HP:0040183<a name=\"hpo-HP.580040183\"> </a></td><td>Encopresis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100507<a name=\"hpo-HP.580100507\"> </a></td><td>Reduced blood folate concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0007011<a name=\"hpo-HP.580007011\"> </a></td><td>Fourth cranial nerve palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000375<a name=\"hpo-HP.580000375\"> </a></td><td>Abnormal cochlea morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009911<a name=\"hpo-HP.580009911\"> </a></td><td>Abnormal temporal bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000081<a name=\"hpo-HP.580000081\"> </a></td><td>Duplicated collecting system</td></tr><tr><td style=\"white-space:nowrap\">HP:0006894<a name=\"hpo-HP.580006894\"> </a></td><td>Hypoplastic olfactory lobes</td></tr><tr><td style=\"white-space:nowrap\">HP:0011380<a name=\"hpo-HP.580011380\"> </a></td><td>Morphological abnormality of the semicircular canal</td></tr><tr><td style=\"white-space:nowrap\">HP:0000110<a name=\"hpo-HP.580000110\"> </a></td><td>Renal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030025<a name=\"hpo-HP.580030025\"> </a></td><td>Auricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0010044<a name=\"hpo-HP.580010044\"> </a></td><td>Short 4th metacarpal</td></tr><tr><td style=\"white-space:nowrap\">HP:0010047<a name=\"hpo-HP.580010047\"> </a></td><td>Short 5th metacarpal</td></tr><tr><td style=\"white-space:nowrap\">HP:0000201<a name=\"hpo-HP.580000201\"> </a></td><td>Pierre-Robin sequence</td></tr><tr><td style=\"white-space:nowrap\">HP:0100837<a name=\"hpo-HP.580100837\"> </a></td><td>Atrophodermia vermiculata</td></tr><tr><td style=\"white-space:nowrap\">HP:0002673<a name=\"hpo-HP.580002673\"> </a></td><td>Coxa valga</td></tr><tr><td style=\"white-space:nowrap\">HP:0001476<a name=\"hpo-HP.580001476\"> </a></td><td>Delayed closure of the anterior fontanelle</td></tr><tr><td style=\"white-space:nowrap\">HP:0011069<a name=\"hpo-HP.580011069\"> </a></td><td>Increased number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009879<a name=\"hpo-HP.580009879\"> </a></td><td>Simplified gyral pattern</td></tr><tr><td style=\"white-space:nowrap\">HP:0006315<a name=\"hpo-HP.580006315\"> </a></td><td>Single median maxillary incisor</td></tr><tr><td style=\"white-space:nowrap\">HP:0001194<a name=\"hpo-HP.580001194\"> </a></td><td>Abnormalities of placenta or umbilical cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0100767<a name=\"hpo-HP.580100767\"> </a></td><td>Abnormal placenta morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0006543<a name=\"hpo-HP.580006543\"> </a></td><td>Cardiorespiratory arrest</td></tr><tr><td style=\"white-space:nowrap\">HP:0003074<a name=\"hpo-HP.580003074\"> </a></td><td>Hyperglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000842<a name=\"hpo-HP.580000842\"> </a></td><td>Hyperinsulinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011951<a name=\"hpo-HP.580011951\"> </a></td><td>Aspiration pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006528<a name=\"hpo-HP.580006528\"> </a></td><td>Chronic lung disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0002383<a name=\"hpo-HP.580002383\"> </a></td><td>Encephalitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000388<a name=\"hpo-HP.580000388\"> </a></td><td>Otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0002530<a name=\"hpo-HP.580002530\"> </a></td><td>Axial dystonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002780<a name=\"hpo-HP.580002780\"> </a></td><td>Bronchomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008755<a name=\"hpo-HP.580008755\"> </a></td><td>Laryngotracheomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000308<a name=\"hpo-HP.580000308\"> </a></td><td>Microretrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002786<a name=\"hpo-HP.580002786\"> </a></td><td>Tracheobronchomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012389<a name=\"hpo-HP.580012389\"> </a></td><td>Appendicular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011323<a name=\"hpo-HP.580011323\"> </a></td><td>Cleft of chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000417<a name=\"hpo-HP.580000417\"> </a></td><td>Slender nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0001863<a name=\"hpo-HP.580001863\"> </a></td><td>Toe clinodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0008386<a name=\"hpo-HP.580008386\"> </a></td><td>Aplasia/Hypoplasia of the nails</td></tr><tr><td style=\"white-space:nowrap\">HP:0006989<a name=\"hpo-HP.580006989\"> </a></td><td>Dysplastic corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0100954<a name=\"hpo-HP.580100954\"> </a></td><td>Open operculum</td></tr><tr><td style=\"white-space:nowrap\">HP:0004482<a name=\"hpo-HP.580004482\"> </a></td><td>Relative macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:3000033<a name=\"hpo-HP.583000033\"> </a></td><td>Abnormal nasopharyngeal adenoid morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009062<a name=\"hpo-HP.580009062\"> </a></td><td>Infantile axial hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002189<a name=\"hpo-HP.580002189\"> </a></td><td>obsolete Excessive daytime sleepiness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002141<a name=\"hpo-HP.580002141\"> </a></td><td>Gait imbalance</td></tr><tr><td style=\"white-space:nowrap\">HP:0012734<a name=\"hpo-HP.580012734\"> </a></td><td>Ketotic hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005968<a name=\"hpo-HP.580005968\"> </a></td><td>Temperature instability</td></tr><tr><td style=\"white-space:nowrap\">HP:0012538<a name=\"hpo-HP.580012538\"> </a></td><td>Gluten intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0000979<a name=\"hpo-HP.580000979\"> </a></td><td>Purpura</td></tr><tr><td style=\"white-space:nowrap\">HP:0001988<a name=\"hpo-HP.580001988\"> </a></td><td>Recurrent hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001488<a name=\"hpo-HP.580001488\"> </a></td><td>Bilateral ptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011229<a name=\"hpo-HP.580011229\"> </a></td><td>Broad eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0004440<a name=\"hpo-HP.580004440\"> </a></td><td>Coronal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004453<a name=\"hpo-HP.580004453\"> </a></td><td>Overfolding of the superior helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0012547<a name=\"hpo-HP.580012547\"> </a></td><td>Abnormal involuntary eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0100814<a name=\"hpo-HP.580100814\"> </a></td><td>Blue nevus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010751<a name=\"hpo-HP.580010751\"> </a></td><td>Dimple chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0007087<a name=\"hpo-HP.580007087\"> </a></td><td>obsolete Involuntary jerking movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0012498<a name=\"hpo-HP.580012498\"> </a></td><td>Nuchal cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0002472<a name=\"hpo-HP.580002472\"> </a></td><td>Small cerebral cortex</td></tr><tr><td style=\"white-space:nowrap\">HP:0100307<a name=\"hpo-HP.580100307\"> </a></td><td>Cerebellar hemisphere hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002151<a name=\"hpo-HP.580002151\"> </a></td><td>Increased serum lactate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001698<a name=\"hpo-HP.580001698\"> </a></td><td>Pericardial effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0006903<a name=\"hpo-HP.580006903\"> </a></td><td>Congenital peripheral neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006895<a name=\"hpo-HP.580006895\"> </a></td><td>Lower limb hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002744<a name=\"hpo-HP.580002744\"> </a></td><td>Bilateral cleft lip and palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0010664<a name=\"hpo-HP.580010664\"> </a></td><td>Fusion of the left and right thalami</td></tr><tr><td style=\"white-space:nowrap\">HP:0000327<a name=\"hpo-HP.580000327\"> </a></td><td>Hypoplasia of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0000474<a name=\"hpo-HP.580000474\"> </a></td><td>Thickened nuchal skin fold</td></tr><tr><td style=\"white-space:nowrap\">HP:0000105<a name=\"hpo-HP.580000105\"> </a></td><td>Enlarged kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0000113<a name=\"hpo-HP.580000113\"> </a></td><td>Polycystic kidney dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000104<a name=\"hpo-HP.580000104\"> </a></td><td>Renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001362<a name=\"hpo-HP.580001362\"> </a></td><td>Calvarial skull defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0008245<a name=\"hpo-HP.580008245\"> </a></td><td>Pituitary hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001552<a name=\"hpo-HP.580001552\"> </a></td><td>Barrel-shaped chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0006297<a name=\"hpo-HP.580006297\"> </a></td><td>Hypoplasia of dental enamel</td></tr><tr><td style=\"white-space:nowrap\">HP:0100023<a name=\"hpo-HP.580100023\"> </a></td><td>Recurrent hand flapping</td></tr><tr><td style=\"white-space:nowrap\">HP:0005518<a name=\"hpo-HP.580005518\"> </a></td><td>Increased mean corpuscular volume</td></tr><tr><td style=\"white-space:nowrap\">HP:0012418<a name=\"hpo-HP.580012418\"> </a></td><td>Hypoxemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100259<a name=\"hpo-HP.580100259\"> </a></td><td>Postaxial polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010814<a name=\"hpo-HP.580010814\"> </a></td><td>Abnormal position of hair whorl</td></tr><tr><td style=\"white-space:nowrap\">HP:0003764<a name=\"hpo-HP.580003764\"> </a></td><td>Nevus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000445<a name=\"hpo-HP.580000445\"> </a></td><td>Wide nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0010677<a name=\"hpo-HP.580010677\"> </a></td><td>Enuresis nocturna</td></tr><tr><td style=\"white-space:nowrap\">HP:0001510<a name=\"hpo-HP.580001510\"> </a></td><td>Growth delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0012428<a name=\"hpo-HP.580012428\"> </a></td><td>Prominent calcaneus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012471<a name=\"hpo-HP.580012471\"> </a></td><td>Thick vermilion border</td></tr><tr><td style=\"white-space:nowrap\">HP:0007110<a name=\"hpo-HP.580007110\"> </a></td><td>Central hypoventilation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010614<a name=\"hpo-HP.580010614\"> </a></td><td>Fibroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001034<a name=\"hpo-HP.580001034\"> </a></td><td>Hypermelanotic macule</td></tr><tr><td style=\"white-space:nowrap\">HP:0011365<a name=\"hpo-HP.580011365\"> </a></td><td>Patchy hypopigmentation of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0001920<a name=\"hpo-HP.580001920\"> </a></td><td>Renal artery stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002828<a name=\"hpo-HP.580002828\"> </a></td><td>Multiple joint contractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0002144<a name=\"hpo-HP.580002144\"> </a></td><td>Tethered cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0010964<a name=\"hpo-HP.580010964\"> </a></td><td>Abnormal circulating long-chain fatty-acid concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0010536<a name=\"hpo-HP.580010536\"> </a></td><td>Central sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0011262<a name=\"hpo-HP.580011262\"> </a></td><td>Crimped helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0040079<a name=\"hpo-HP.580040079\"> </a></td><td>Irregular dentition</td></tr><tr><td style=\"white-space:nowrap\">HP:0011481<a name=\"hpo-HP.580011481\"> </a></td><td>Abnormal lacrimal duct morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000220<a name=\"hpo-HP.580000220\"> </a></td><td>Velopharyngeal insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002153<a name=\"hpo-HP.580002153\"> </a></td><td>Hyperkalemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002148<a name=\"hpo-HP.580002148\"> </a></td><td>Hypophosphatemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012621<a name=\"hpo-HP.580012621\"> </a></td><td>Persistent cloaca</td></tr><tr><td style=\"white-space:nowrap\">HP:0000867<a name=\"hpo-HP.580000867\"> </a></td><td>Secondary hyperparathyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0003762<a name=\"hpo-HP.580003762\"> </a></td><td>Uterus didelphys</td></tr><tr><td style=\"white-space:nowrap\">HP:0100512<a name=\"hpo-HP.580100512\"> </a></td><td>Low levels of vitamin D</td></tr><tr><td style=\"white-space:nowrap\">HP:0012156<a name=\"hpo-HP.580012156\"> </a></td><td>Hemophagocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008209<a name=\"hpo-HP.580008209\"> </a></td><td>Premature ovarian insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0004349<a name=\"hpo-HP.580004349\"> </a></td><td>Reduced bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0001924<a name=\"hpo-HP.580001924\"> </a></td><td>Sideroblastic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011703<a name=\"hpo-HP.580011703\"> </a></td><td>Sinus tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010609<a name=\"hpo-HP.580010609\"> </a></td><td>Skin tags</td></tr><tr><td style=\"white-space:nowrap\">HP:0002725<a name=\"hpo-HP.580002725\"> </a></td><td>Systemic lupus erythematosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0003193<a name=\"hpo-HP.580003193\"> </a></td><td>Allergic rhinitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006896<a name=\"hpo-HP.580006896\"> </a></td><td>Hypnopompic hallucinations</td></tr><tr><td style=\"white-space:nowrap\">HP:0002524<a name=\"hpo-HP.580002524\"> </a></td><td>Cataplexy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005227<a name=\"hpo-HP.580005227\"> </a></td><td>Adenomatous colonic polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012173<a name=\"hpo-HP.580012173\"> </a></td><td>Orthostatic tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001271<a name=\"hpo-HP.580001271\"> </a></td><td>Polyneuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0009120<a name=\"hpo-HP.580009120\"> </a></td><td>Aplasia/Hypoplasia involving the sinuses</td></tr><tr><td style=\"white-space:nowrap\">HP:0000625<a name=\"hpo-HP.580000625\"> </a></td><td>Eyelid coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0009754<a name=\"hpo-HP.580009754\"> </a></td><td>Fibrous syngnathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012478<a name=\"hpo-HP.580012478\"> </a></td><td>Temporomandibular joint ankylosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001233<a name=\"hpo-HP.580001233\"> </a></td><td>2-3 finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000811<a name=\"hpo-HP.580000811\"> </a></td><td>Abnormal external genitalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005120<a name=\"hpo-HP.580005120\"> </a></td><td>Abnormal cardiac atrium morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008388<a name=\"hpo-HP.580008388\"> </a></td><td>Abnormal toenail morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011467<a name=\"hpo-HP.580011467\"> </a></td><td>Absent gallbladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0010760<a name=\"hpo-HP.580010760\"> </a></td><td>Absent toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001545<a name=\"hpo-HP.580001545\"> </a></td><td>Anteriorly placed anus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001640<a name=\"hpo-HP.580001640\"> </a></td><td>Cardiomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002990<a name=\"hpo-HP.580002990\"> </a></td><td>Fibular aplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004443<a name=\"hpo-HP.580004443\"> </a></td><td>Lambdoidal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008569<a name=\"hpo-HP.580008569\"> </a></td><td>Microtia, second degree</td></tr><tr><td style=\"white-space:nowrap\">HP:0006277<a name=\"hpo-HP.580006277\"> </a></td><td>Pancreatic hyperplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010445<a name=\"hpo-HP.580010445\"> </a></td><td>Primum atrial septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0011640<a name=\"hpo-HP.580011640\"> </a></td><td>Single coronary artery origin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011608<a name=\"hpo-HP.580011608\"> </a></td><td>Type II truncus arteriosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0011327<a name=\"hpo-HP.580011327\"> </a></td><td>Posterior plagiocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0007655<a name=\"hpo-HP.580007655\"> </a></td><td>Eversion of lateral third of lower eyelids</td></tr><tr><td style=\"white-space:nowrap\">HP:0010747<a name=\"hpo-HP.580010747\"> </a></td><td>Medial flaring of the eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0005957<a name=\"hpo-HP.580005957\"> </a></td><td>Breathing dysregulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000992<a name=\"hpo-HP.580000992\"> </a></td><td>Cutaneous photosensitivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0011995<a name=\"hpo-HP.580011995\"> </a></td><td>Atrial septal dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000377<a name=\"hpo-HP.580000377\"> </a></td><td>Abnormality of the pinna</td></tr><tr><td style=\"white-space:nowrap\">HP:0011266<a name=\"hpo-HP.580011266\"> </a></td><td>Microtia, first degree</td></tr><tr><td style=\"white-space:nowrap\">HP:0012650<a name=\"hpo-HP.580012650\"> </a></td><td>Perisylvian polymicrogyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0004970<a name=\"hpo-HP.580004970\"> </a></td><td>Ascending tubular aorta aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0008348<a name=\"hpo-HP.580008348\"> </a></td><td>Decreased circulating IgG2 level</td></tr><tr><td style=\"white-space:nowrap\">HP:0012115<a name=\"hpo-HP.580012115\"> </a></td><td>Hepatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006979<a name=\"hpo-HP.580006979\"> </a></td><td>Sleep-wake cycle disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0008587<a name=\"hpo-HP.580008587\"> </a></td><td>Mild neurosensory hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0006097<a name=\"hpo-HP.580006097\"> </a></td><td>3-4 finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005263<a name=\"hpo-HP.580005263\"> </a></td><td>Gastritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0200043<a name=\"hpo-HP.580200043\"> </a></td><td>Verrucae</td></tr><tr><td style=\"white-space:nowrap\">HP:0009600<a name=\"hpo-HP.580009600\"> </a></td><td>Flexion contracture of thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0010818<a name=\"hpo-HP.580010818\"> </a></td><td>Generalized tonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0002599<a name=\"hpo-HP.580002599\"> </a></td><td>Head titubation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002090<a name=\"hpo-HP.580002090\"> </a></td><td>Pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030423<a name=\"hpo-HP.580030423\"> </a></td><td>Splenic cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0030187<a name=\"hpo-HP.580030187\"> </a></td><td>Titubation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002375<a name=\"hpo-HP.580002375\"> </a></td><td>Hypokinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007166<a name=\"hpo-HP.580007166\"> </a></td><td>Paroxysmal dyskinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003077<a name=\"hpo-HP.580003077\"> </a></td><td>Hyperlipidemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000017<a name=\"hpo-HP.580000017\"> </a></td><td>Nocturia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100555<a name=\"hpo-HP.580100555\"> </a></td><td>Asymmetric growth</td></tr><tr><td style=\"white-space:nowrap\">HP:0011847<a name=\"hpo-HP.580011847\"> </a></td><td>Giant cell tumor of bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0000112<a name=\"hpo-HP.580000112\"> </a></td><td>Nephropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000246<a name=\"hpo-HP.580000246\"> </a></td><td>Sinusitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001012<a name=\"hpo-HP.580001012\"> </a></td><td>Multiple lipomas</td></tr><tr><td style=\"white-space:nowrap\">HP:0000851<a name=\"hpo-HP.580000851\"> </a></td><td>Congenital hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0002345<a name=\"hpo-HP.580002345\"> </a></td><td>Action tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002677<a name=\"hpo-HP.580002677\"> </a></td><td>Small foramen magnum</td></tr><tr><td style=\"white-space:nowrap\">HP:0011947<a name=\"hpo-HP.580011947\"> </a></td><td>Respiratory tract infection</td></tr><tr><td style=\"white-space:nowrap\">HP:0012151<a name=\"hpo-HP.580012151\"> </a></td><td>Hemothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0005988<a name=\"hpo-HP.580005988\"> </a></td><td>Congenital muscular torticollis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002329<a name=\"hpo-HP.580002329\"> </a></td><td>Drowsiness</td></tr><tr><td style=\"white-space:nowrap\">HP:0012395<a name=\"hpo-HP.580012395\"> </a></td><td>Seasonal allergy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011679<a name=\"hpo-HP.580011679\"> </a></td><td>Tetralogy of Fallot with pulmonary stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001864<a name=\"hpo-HP.580001864\"> </a></td><td>Clinodactyly of the 5th toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0006934<a name=\"hpo-HP.580006934\"> </a></td><td>Congenital nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0100355<a name=\"hpo-HP.580100355\"> </a></td><td>Contractures of the distal interphalangeal joint of the 5th toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0007894<a name=\"hpo-HP.580007894\"> </a></td><td>Hypopigmentation of the fundus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012377<a name=\"hpo-HP.580012377\"> </a></td><td>Hemianopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002354<a name=\"hpo-HP.580002354\"> </a></td><td>Memory impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000872<a name=\"hpo-HP.580000872\"> </a></td><td>Hashimoto thyroiditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002519<a name=\"hpo-HP.580002519\"> </a></td><td>Hypnagogic hallucinations</td></tr><tr><td style=\"white-space:nowrap\">HP:0010647<a name=\"hpo-HP.580010647\"> </a></td><td>Abnormal elasticity of skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0002592<a name=\"hpo-HP.580002592\"> </a></td><td>Gastric ulcer</td></tr><tr><td style=\"white-space:nowrap\">HP:0004938<a name=\"hpo-HP.580004938\"> </a></td><td>Tortuous cerebral arteries</td></tr><tr><td style=\"white-space:nowrap\">HP:0004948<a name=\"hpo-HP.580004948\"> </a></td><td>Vascular tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002516<a name=\"hpo-HP.580002516\"> </a></td><td>Increased intracranial pressure</td></tr><tr><td style=\"white-space:nowrap\">HP:0006460<a name=\"hpo-HP.580006460\"> </a></td><td>Increased laxity of ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0002317<a name=\"hpo-HP.580002317\"> </a></td><td>Unsteady gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0000182<a name=\"hpo-HP.580000182\"> </a></td><td>Movement abnormality of the tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0009887<a name=\"hpo-HP.580009887\"> </a></td><td>Abnormality of hair pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005824<a name=\"hpo-HP.580005824\"> </a></td><td>Clinodactyly of the 2nd toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002212<a name=\"hpo-HP.580002212\"> </a></td><td>Curly hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0009803<a name=\"hpo-HP.580009803\"> </a></td><td>Short phalanx of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0000572<a name=\"hpo-HP.580000572\"> </a></td><td>Visual loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0005216<a name=\"hpo-HP.580005216\"> </a></td><td>Impaired mastication</td></tr><tr><td style=\"white-space:nowrap\">HP:0000619<a name=\"hpo-HP.580000619\"> </a></td><td>Impaired convergence</td></tr><tr><td style=\"white-space:nowrap\">HP:0002403<a name=\"hpo-HP.580002403\"> </a></td><td>Positive Romberg sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0008744<a name=\"hpo-HP.580008744\"> </a></td><td>Abnormal aryepiglottic fold morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002374<a name=\"hpo-HP.580002374\"> </a></td><td>Diminished movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0008277<a name=\"hpo-HP.580008277\"> </a></td><td>Abnormal blood zinc concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0012781<a name=\"hpo-HP.580012781\"> </a></td><td>Mid-frequency hearing loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0100758<a name=\"hpo-HP.580100758\"> </a></td><td>Gangrene</td></tr><tr><td style=\"white-space:nowrap\">HP:0003256<a name=\"hpo-HP.580003256\"> </a></td><td>Abnormality of the coagulation cascade</td></tr><tr><td style=\"white-space:nowrap\">HP:0004387<a name=\"hpo-HP.580004387\"> </a></td><td>Enterocolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011029<a name=\"hpo-HP.580011029\"> </a></td><td>Internal hemorrhage</td></tr><tr><td style=\"white-space:nowrap\">HP:0011649<a name=\"hpo-HP.580011649\"> </a></td><td>Patent ductus arteriosus after premature birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0012050<a name=\"hpo-HP.580012050\"> </a></td><td>Anasarca</td></tr><tr><td style=\"white-space:nowrap\">HP:0001683<a name=\"hpo-HP.580001683\"> </a></td><td>Ectopia cordis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011682<a name=\"hpo-HP.580011682\"> </a></td><td>Perimembranous ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0010624<a name=\"hpo-HP.580010624\"> </a></td><td>Aplastic/hypoplastic toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002705<a name=\"hpo-HP.580002705\"> </a></td><td>High, narrow palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0011340<a name=\"hpo-HP.580011340\"> </a></td><td>Incomplete cleft of the upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0011613<a name=\"hpo-HP.580011613\"> </a></td><td>Interrupted aortic arch type B</td></tr><tr><td style=\"white-space:nowrap\">HP:0006167<a name=\"hpo-HP.580006167\"> </a></td><td>Prominent proximal interphalangeal joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0002918<a name=\"hpo-HP.580002918\"> </a></td><td>Hypermagnesemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011937<a name=\"hpo-HP.580011937\"> </a></td><td>Hypoplastic fifth toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0001067<a name=\"hpo-HP.580001067\"> </a></td><td>Neurofibromas</td></tr><tr><td style=\"white-space:nowrap\">HP:0011403<a name=\"hpo-HP.580011403\"> </a></td><td>Abnormal umbilical cord blood vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0003316<a name=\"hpo-HP.580003316\"> </a></td><td>Butterfly vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0002247<a name=\"hpo-HP.580002247\"> </a></td><td>Duodenal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008439<a name=\"hpo-HP.580008439\"> </a></td><td>Lumbar hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0011599<a name=\"hpo-HP.580011599\"> </a></td><td>Mesocardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008467<a name=\"hpo-HP.580008467\"> </a></td><td>Thoracic hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0004626<a name=\"hpo-HP.580004626\"> </a></td><td>Lumbar scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006808<a name=\"hpo-HP.580006808\"> </a></td><td>Cerebral hypomyelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0002926<a name=\"hpo-HP.580002926\"> </a></td><td>Abnormality of thyroid physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0007970<a name=\"hpo-HP.580007970\"> </a></td><td>Congenital ptosis</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/hp.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "HPO"];
- fhir:CodeSystem.title [ fhir:value "Human Phenotype Ontology"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/hp.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "HPO"]; #
+ fhir:CodeSystem.title [ fhir:value "Human Phenotype Ontology"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -322,17 +322,17 @@ : Human Phenotype Ontology - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org"];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org"]; #
fhir:CodeSystem.valueSet [
fhir:value "http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes";
fhir:link <http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes>
- ];
- fhir:CodeSystem.hierarchyMeaning [ fhir:value "is-a"];
- fhir:CodeSystem.compositional [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.versionNeeded [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "1880"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.hierarchyMeaning [ fhir:value "is-a"]; #
+ fhir:CodeSystem.compositional [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.versionNeeded [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "1880"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.filter [
fhir:index 0;
fhir:CodeSystem.filter.code [ fhir:value "root" ];
@@ -354,7 +354,7 @@ : Human Phenotype Ontology - TTL Representation
fhir:value "=";
fhir:index 0 ];
fhir:CodeSystem.filter.value [ fhir:value "True or false" ]
- ];
+ ]; #
fhir:CodeSystem.property [
fhir:index 0;
fhir:CodeSystem.property.code [ fhir:value "parent" ];
@@ -375,7 +375,7 @@ : Human Phenotype Ontology - TTL Representation
fhir:CodeSystem.property.code [ fhir:value "deprecated" ];
fhir:CodeSystem.property.description [ fhir:value "Indicates if this concept is deprecated." ];
fhir:CodeSystem.property.type [ fhir:value "boolean" ]
- ];
+ ]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "HP:0000365" ];
@@ -7896,7 +7896,7 @@ : Human Phenotype Ontology - TTL Representation
fhir:index 1879;
fhir:CodeSystem.concept.code [ fhir:value "HP:0007970" ];
fhir:CodeSystem.concept.display [ fhir:value "Congenital ptosis" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -7934,7 +7934,7 @@ : Human Phenotype Ontology - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-hpo.xlsx b/CodeSystem-hpo.xlsx
index e3ba9541..b9605f18 100644
Binary files a/CodeSystem-hpo.xlsx and b/CodeSystem-hpo.xlsx differ
diff --git a/CodeSystem-hpo.xml b/CodeSystem-hpo.xml
index 735a6976..1de45f4e 100644
--- a/CodeSystem-hpo.xml
+++ b/CodeSystem-hpo.xml
@@ -11,7 +11,7 @@
-
+
diff --git a/CodeSystem-hpo.xml.html b/CodeSystem-hpo.xml.html
index a6c91054..ba70163a 100644
--- a/CodeSystem-hpo.xml.html
+++ b/CodeSystem-hpo.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Human Phenotype Ontology - XML Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Human Phenotype Ontology - XML Representation
<title value="Human Phenotype Ontology"/>
<status value="draft"/>
<experimental value="false"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -7916,7 +7916,7 @@ : Human Phenotype Ontology - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers-testing.html b/CodeSystem-loinc-answers-testing.html
index 4dd49076..1573b18b 100644
--- a/CodeSystem-loinc-answers-testing.html
+++ b/CodeSystem-loinc-answers-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: LOINC Answers - Testing
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: LOINC Answers - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers.change.history.html b/CodeSystem-loinc-answers.change.history.html
index 6809e902..e82b48bf 100644
--- a/CodeSystem-loinc-answers.change.history.html
+++ b/CodeSystem-loinc-answers.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : LoincAnswers - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers.html b/CodeSystem-loinc-answers.html
index 2928295c..f152123b 100644
--- a/CodeSystem-loinc-answers.html
+++ b/CodeSystem-loinc-answers.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: LOINC Answers
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -349,7 +349,7 @@ CodeSystem: LOINC Answers
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers.json b/CodeSystem-loinc-answers.json
index 0a654be9..2b30d8bb 100644
--- a/CodeSystem-loinc-answers.json
+++ b/CodeSystem-loinc-answers.json
@@ -1,139 +1,131 @@
-{
- "resourceType": "CodeSystem",
- "id": "loinc-answers",
- "text": {
- "status": "generated",
- "div": "This code system ncpi:loinc-answers
defines the following codes:
Code | Display |
LA21254-0 | Chromosome 1 |
LA21255-7 | Chromosome 2 |
LA21256-5 | Chromosome 3 |
LA21257-3 | Chromosome 4 |
LA21258-1 | Chromosome 5 |
LA21259-9 | Chromosome 6 |
LA21260-7 | Chromosome 7 |
LA21261-5 | Chromosome 8 |
LA21262-3 | Chromosome 9 |
LA21263-1 | Chromosome 10 |
LA21264-9 | Chromosome 11 |
LA21265-6 | Chromosome 12 |
LA21266-4 | Chromosome 13 |
LA21267-2 | Chromosome 14 |
LA21268-0 | Chromosome 15 |
LA21269-8 | Chromosome 16 |
LA21270-6 | Chromosome 17 |
LA21271-4 | Chromosome 18 |
LA21272-2 | Chromosome 19 |
LA21273-0 | Chromosome 20 |
LA21274-8 | Chromosome 21 |
LA21275-5 | Chromosome 22 |
LA21276-3 | Chromosome X |
LA21277-1 | Chromosome Y |
"
- },
- "url": "ncpi:loinc-answers",
- "version": "0.2.0",
- "name": "LoincAnswers",
- "title": "LOINC Answers",
- "status": "draft",
- "experimental": false,
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "LOINC ANSWERS used by NCPI resources",
- "caseSensitive": true,
- "content": "complete",
- "count": 24,
- "concept": [
- {
- "code": "LA21254-0",
- "display": "Chromosome 1"
- },
- {
- "code": "LA21255-7",
- "display": "Chromosome 2"
- },
- {
- "code": "LA21256-5",
- "display": "Chromosome 3"
- },
- {
- "code": "LA21257-3",
- "display": "Chromosome 4"
- },
- {
- "code": "LA21258-1",
- "display": "Chromosome 5"
- },
- {
- "code": "LA21259-9",
- "display": "Chromosome 6"
- },
- {
- "code": "LA21260-7",
- "display": "Chromosome 7"
- },
- {
- "code": "LA21261-5",
- "display": "Chromosome 8"
- },
- {
- "code": "LA21262-3",
- "display": "Chromosome 9"
- },
- {
- "code": "LA21263-1",
- "display": "Chromosome 10"
- },
- {
- "code": "LA21264-9",
- "display": "Chromosome 11"
- },
- {
- "code": "LA21265-6",
- "display": "Chromosome 12"
- },
- {
- "code": "LA21266-4",
- "display": "Chromosome 13"
- },
- {
- "code": "LA21267-2",
- "display": "Chromosome 14"
- },
- {
- "code": "LA21268-0",
- "display": "Chromosome 15"
- },
- {
- "code": "LA21269-8",
- "display": "Chromosome 16"
- },
- {
- "code": "LA21270-6",
- "display": "Chromosome 17"
- },
- {
- "code": "LA21271-4",
- "display": "Chromosome 18"
- },
- {
- "code": "LA21272-2",
- "display": "Chromosome 19"
- },
- {
- "code": "LA21273-0",
- "display": "Chromosome 20"
- },
- {
- "code": "LA21274-8",
- "display": "Chromosome 21"
- },
- {
- "code": "LA21275-5",
- "display": "Chromosome 22"
- },
- {
- "code": "LA21276-3",
- "display": "Chromosome X"
- },
- {
- "code": "LA21277-1",
- "display": "Chromosome Y"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "loinc-answers",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system ncpi:loinc-answers
defines the following codes:
Code | Display |
LA21254-0 | Chromosome 1 |
LA21255-7 | Chromosome 2 |
LA21256-5 | Chromosome 3 |
LA21257-3 | Chromosome 4 |
LA21258-1 | Chromosome 5 |
LA21259-9 | Chromosome 6 |
LA21260-7 | Chromosome 7 |
LA21261-5 | Chromosome 8 |
LA21262-3 | Chromosome 9 |
LA21263-1 | Chromosome 10 |
LA21264-9 | Chromosome 11 |
LA21265-6 | Chromosome 12 |
LA21266-4 | Chromosome 13 |
LA21267-2 | Chromosome 14 |
LA21268-0 | Chromosome 15 |
LA21269-8 | Chromosome 16 |
LA21270-6 | Chromosome 17 |
LA21271-4 | Chromosome 18 |
LA21272-2 | Chromosome 19 |
LA21273-0 | Chromosome 20 |
LA21274-8 | Chromosome 21 |
LA21275-5 | Chromosome 22 |
LA21276-3 | Chromosome X |
LA21277-1 | Chromosome Y |
"
+ },
+ "url" : "ncpi:loinc-answers",
+ "version" : "0.2.0",
+ "name" : "LoincAnswers",
+ "title" : "LOINC Answers",
+ "status" : "draft",
+ "experimental" : false,
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "LOINC ANSWERS used by NCPI resources",
+ "caseSensitive" : true,
+ "content" : "complete",
+ "count" : 24,
+ "concept" : [{
+ "code" : "LA21254-0",
+ "display" : "Chromosome 1"
+ },
+ {
+ "code" : "LA21255-7",
+ "display" : "Chromosome 2"
+ },
+ {
+ "code" : "LA21256-5",
+ "display" : "Chromosome 3"
+ },
+ {
+ "code" : "LA21257-3",
+ "display" : "Chromosome 4"
+ },
+ {
+ "code" : "LA21258-1",
+ "display" : "Chromosome 5"
+ },
+ {
+ "code" : "LA21259-9",
+ "display" : "Chromosome 6"
+ },
+ {
+ "code" : "LA21260-7",
+ "display" : "Chromosome 7"
+ },
+ {
+ "code" : "LA21261-5",
+ "display" : "Chromosome 8"
+ },
+ {
+ "code" : "LA21262-3",
+ "display" : "Chromosome 9"
+ },
+ {
+ "code" : "LA21263-1",
+ "display" : "Chromosome 10"
+ },
+ {
+ "code" : "LA21264-9",
+ "display" : "Chromosome 11"
+ },
+ {
+ "code" : "LA21265-6",
+ "display" : "Chromosome 12"
+ },
+ {
+ "code" : "LA21266-4",
+ "display" : "Chromosome 13"
+ },
+ {
+ "code" : "LA21267-2",
+ "display" : "Chromosome 14"
+ },
+ {
+ "code" : "LA21268-0",
+ "display" : "Chromosome 15"
+ },
+ {
+ "code" : "LA21269-8",
+ "display" : "Chromosome 16"
+ },
+ {
+ "code" : "LA21270-6",
+ "display" : "Chromosome 17"
+ },
+ {
+ "code" : "LA21271-4",
+ "display" : "Chromosome 18"
+ },
+ {
+ "code" : "LA21272-2",
+ "display" : "Chromosome 19"
+ },
+ {
+ "code" : "LA21273-0",
+ "display" : "Chromosome 20"
+ },
+ {
+ "code" : "LA21274-8",
+ "display" : "Chromosome 21"
+ },
+ {
+ "code" : "LA21275-5",
+ "display" : "Chromosome 22"
+ },
+ {
+ "code" : "LA21276-3",
+ "display" : "Chromosome X"
+ },
+ {
+ "code" : "LA21277-1",
+ "display" : "Chromosome Y"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-loinc-answers.json.html b/CodeSystem-loinc-answers.json.html
index a02ebace..c270155b 100644
--- a/CodeSystem-loinc-answers.json.html
+++ b/CodeSystem-loinc-answers.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : LOINC Answers - JSON Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : LOINC Answers - JSON Representation
"title" : "LOINC Answers",
"status" : "draft",
"experimental" : false,
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -453,7 +453,7 @@ : LOINC Answers - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers.ttl b/CodeSystem-loinc-answers.ttl
index 68266239..534de102 100644
--- a/CodeSystem-loinc-answers.ttl
+++ b/CodeSystem-loinc-answers.ttl
@@ -7,19 +7,19 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "loinc-answers"];
+ fhir:Resource.id [ fhir:value "loinc-answers"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system ncpi:loinc-answers
defines the following codes:
Code | Display |
LA21254-0 | Chromosome 1 |
LA21255-7 | Chromosome 2 |
LA21256-5 | Chromosome 3 |
LA21257-3 | Chromosome 4 |
LA21258-1 | Chromosome 5 |
LA21259-9 | Chromosome 6 |
LA21260-7 | Chromosome 7 |
LA21261-5 | Chromosome 8 |
LA21262-3 | Chromosome 9 |
LA21263-1 | Chromosome 10 |
LA21264-9 | Chromosome 11 |
LA21265-6 | Chromosome 12 |
LA21266-4 | Chromosome 13 |
LA21267-2 | Chromosome 14 |
LA21268-0 | Chromosome 15 |
LA21269-8 | Chromosome 16 |
LA21270-6 | Chromosome 17 |
LA21271-4 | Chromosome 18 |
LA21272-2 | Chromosome 19 |
LA21273-0 | Chromosome 20 |
LA21274-8 | Chromosome 21 |
LA21275-5 | Chromosome 22 |
LA21276-3 | Chromosome X |
LA21277-1 | Chromosome Y |
"
- ];
- fhir:CodeSystem.url [ fhir:value "ncpi:loinc-answers"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "LoincAnswers"];
- fhir:CodeSystem.title [ fhir:value "LOINC Answers"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "ncpi:loinc-answers"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "LoincAnswers"]; #
+ fhir:CodeSystem.title [ fhir:value "LOINC Answers"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -37,11 +37,11 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "LOINC ANSWERS used by NCPI resources"];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "24"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "LOINC ANSWERS used by NCPI resources"]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "24"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "LA21254-0" ];
@@ -138,7 +138,7 @@
fhir:index 23;
fhir:CodeSystem.concept.code [ fhir:value "LA21277-1" ];
fhir:CodeSystem.concept.display [ fhir:value "Chromosome Y" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-loinc-answers.ttl.html b/CodeSystem-loinc-answers.ttl.html
index 96b13f67..b5d4d3b1 100644
--- a/CodeSystem-loinc-answers.ttl.html
+++ b/CodeSystem-loinc-answers.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : LOINC Answers - TTL Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,19 +294,19 @@ : LOINC Answers - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "loinc-answers"];
+ fhir:Resource.id [ fhir:value "loinc-answers"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>ncpi:loinc-answers</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">LA21254-0<a name=\"loinc-answers-LA21254-0\"> </a></td><td>Chromosome 1</td></tr><tr><td style=\"white-space:nowrap\">LA21255-7<a name=\"loinc-answers-LA21255-7\"> </a></td><td>Chromosome 2</td></tr><tr><td style=\"white-space:nowrap\">LA21256-5<a name=\"loinc-answers-LA21256-5\"> </a></td><td>Chromosome 3</td></tr><tr><td style=\"white-space:nowrap\">LA21257-3<a name=\"loinc-answers-LA21257-3\"> </a></td><td>Chromosome 4</td></tr><tr><td style=\"white-space:nowrap\">LA21258-1<a name=\"loinc-answers-LA21258-1\"> </a></td><td>Chromosome 5</td></tr><tr><td style=\"white-space:nowrap\">LA21259-9<a name=\"loinc-answers-LA21259-9\"> </a></td><td>Chromosome 6</td></tr><tr><td style=\"white-space:nowrap\">LA21260-7<a name=\"loinc-answers-LA21260-7\"> </a></td><td>Chromosome 7</td></tr><tr><td style=\"white-space:nowrap\">LA21261-5<a name=\"loinc-answers-LA21261-5\"> </a></td><td>Chromosome 8</td></tr><tr><td style=\"white-space:nowrap\">LA21262-3<a name=\"loinc-answers-LA21262-3\"> </a></td><td>Chromosome 9</td></tr><tr><td style=\"white-space:nowrap\">LA21263-1<a name=\"loinc-answers-LA21263-1\"> </a></td><td>Chromosome 10</td></tr><tr><td style=\"white-space:nowrap\">LA21264-9<a name=\"loinc-answers-LA21264-9\"> </a></td><td>Chromosome 11</td></tr><tr><td style=\"white-space:nowrap\">LA21265-6<a name=\"loinc-answers-LA21265-6\"> </a></td><td>Chromosome 12</td></tr><tr><td style=\"white-space:nowrap\">LA21266-4<a name=\"loinc-answers-LA21266-4\"> </a></td><td>Chromosome 13</td></tr><tr><td style=\"white-space:nowrap\">LA21267-2<a name=\"loinc-answers-LA21267-2\"> </a></td><td>Chromosome 14</td></tr><tr><td style=\"white-space:nowrap\">LA21268-0<a name=\"loinc-answers-LA21268-0\"> </a></td><td>Chromosome 15</td></tr><tr><td style=\"white-space:nowrap\">LA21269-8<a name=\"loinc-answers-LA21269-8\"> </a></td><td>Chromosome 16</td></tr><tr><td style=\"white-space:nowrap\">LA21270-6<a name=\"loinc-answers-LA21270-6\"> </a></td><td>Chromosome 17</td></tr><tr><td style=\"white-space:nowrap\">LA21271-4<a name=\"loinc-answers-LA21271-4\"> </a></td><td>Chromosome 18</td></tr><tr><td style=\"white-space:nowrap\">LA21272-2<a name=\"loinc-answers-LA21272-2\"> </a></td><td>Chromosome 19</td></tr><tr><td style=\"white-space:nowrap\">LA21273-0<a name=\"loinc-answers-LA21273-0\"> </a></td><td>Chromosome 20</td></tr><tr><td style=\"white-space:nowrap\">LA21274-8<a name=\"loinc-answers-LA21274-8\"> </a></td><td>Chromosome 21</td></tr><tr><td style=\"white-space:nowrap\">LA21275-5<a name=\"loinc-answers-LA21275-5\"> </a></td><td>Chromosome 22</td></tr><tr><td style=\"white-space:nowrap\">LA21276-3<a name=\"loinc-answers-LA21276-3\"> </a></td><td>Chromosome X</td></tr><tr><td style=\"white-space:nowrap\">LA21277-1<a name=\"loinc-answers-LA21277-1\"> </a></td><td>Chromosome Y</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "ncpi:loinc-answers"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "LoincAnswers"];
- fhir:CodeSystem.title [ fhir:value "LOINC Answers"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "ncpi:loinc-answers"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "LoincAnswers"]; #
+ fhir:CodeSystem.title [ fhir:value "LOINC Answers"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -322,11 +322,11 @@ : LOINC Answers - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "LOINC ANSWERS used by NCPI resources"];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "complete"];
- fhir:CodeSystem.count [ fhir:value "24"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "LOINC ANSWERS used by NCPI resources"]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "complete"]; #
+ fhir:CodeSystem.count [ fhir:value "24"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "LA21254-0" ];
@@ -423,7 +423,7 @@ : LOINC Answers - TTL Representation
fhir:index 23;
fhir:CodeSystem.concept.code [ fhir:value "LA21277-1" ];
fhir:CodeSystem.concept.display [ fhir:value "Chromosome Y" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -461,7 +461,7 @@ : LOINC Answers - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-loinc-answers.xlsx b/CodeSystem-loinc-answers.xlsx
index b02316ca..f0b646d9 100644
Binary files a/CodeSystem-loinc-answers.xlsx and b/CodeSystem-loinc-answers.xlsx differ
diff --git a/CodeSystem-loinc-answers.xml b/CodeSystem-loinc-answers.xml
index 19489005..feb9ffef 100644
--- a/CodeSystem-loinc-answers.xml
+++ b/CodeSystem-loinc-answers.xml
@@ -11,7 +11,7 @@
-
+
diff --git a/CodeSystem-loinc-answers.xml.html b/CodeSystem-loinc-answers.xml.html
index 765076a0..ce9bf155 100644
--- a/CodeSystem-loinc-answers.xml.html
+++ b/CodeSystem-loinc-answers.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : LOINC Answers - XML Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : LOINC Answers - XML Representation
<title value="LOINC Answers"/>
<status value="draft"/>
<experimental value="false"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -445,7 +445,7 @@ : LOINC Answers - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo-testing.html b/CodeSystem-mondo-testing.html
index 7056d6f0..6d1e67b6 100644
--- a/CodeSystem-mondo-testing.html
+++ b/CodeSystem-mondo-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: Mondo Disease Ontology - Testing
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: Mondo Disease Ontology - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo.change.history.html b/CodeSystem-mondo.change.history.html
index 36305188..b9b37427 100644
--- a/CodeSystem-mondo.change.history.html
+++ b/CodeSystem-mondo.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : Mondo - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo.html b/CodeSystem-mondo.html
index 7d0439e6..ae5a1624 100644
--- a/CodeSystem-mondo.html
+++ b/CodeSystem-mondo.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: Mondo Disease Ontology
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -350,7 +350,7 @@ CodeSystem: Mondo Disease Ontology
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo.json b/CodeSystem-mondo.json
index 6edd7b57..b682003e 100644
--- a/CodeSystem-mondo.json
+++ b/CodeSystem-mondo.json
@@ -1,55 +1,47 @@
-{
- "resourceType": "CodeSystem",
- "id": "mondo",
- "text": {
- "status": "generated",
- "div": "This code system http://purl.obolibrary.org/obo/mondo.owl
defines many codes, of which the following are a subset:
Code | Display |
MONDO:0005072 | neuroblastoma |
MONDO:0002749 | extracranial neuroblastoma |
MONDO:0008542 | tetralogy of fallot |
"
- },
- "url": "http://purl.obolibrary.org/obo/mondo.owl",
- "version": "0.2.0",
- "name": "Mondo",
- "title": "Mondo Disease Ontology",
- "status": "draft",
- "experimental": false,
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'",
- "caseSensitive": true,
- "content": "fragment",
- "count": 3,
- "concept": [
- {
- "code": "MONDO:0005072",
- "display": "neuroblastoma"
- },
- {
- "code": "MONDO:0002749",
- "display": "extracranial neuroblastoma"
- },
- {
- "code": "MONDO:0008542",
- "display": "tetralogy of fallot"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "mondo",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system http://purl.obolibrary.org/obo/mondo.owl
defines many codes, of which the following are a subset:
Code | Display |
MONDO:0005072 | neuroblastoma |
MONDO:0002749 | extracranial neuroblastoma |
MONDO:0008542 | tetralogy of fallot |
"
+ },
+ "url" : "http://purl.obolibrary.org/obo/mondo.owl",
+ "version" : "0.2.0",
+ "name" : "Mondo",
+ "title" : "Mondo Disease Ontology",
+ "status" : "draft",
+ "experimental" : false,
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'",
+ "caseSensitive" : true,
+ "content" : "fragment",
+ "count" : 3,
+ "concept" : [{
+ "code" : "MONDO:0005072",
+ "display" : "neuroblastoma"
+ },
+ {
+ "code" : "MONDO:0002749",
+ "display" : "extracranial neuroblastoma"
+ },
+ {
+ "code" : "MONDO:0008542",
+ "display" : "tetralogy of fallot"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-mondo.json.html b/CodeSystem-mondo.json.html
index 2ce1044c..f52ef8ca 100644
--- a/CodeSystem-mondo.json.html
+++ b/CodeSystem-mondo.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Mondo Disease Ontology - JSON Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Mondo Disease Ontology - JSON Representation
"title" : "Mondo Disease Ontology",
"status" : "draft",
"experimental" : false,
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -369,7 +369,7 @@ : Mondo Disease Ontology - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo.ttl b/CodeSystem-mondo.ttl
index dd807634..a58ac4a5 100644
--- a/CodeSystem-mondo.ttl
+++ b/CodeSystem-mondo.ttl
@@ -7,19 +7,19 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "mondo"];
+ fhir:Resource.id [ fhir:value "mondo"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system http://purl.obolibrary.org/obo/mondo.owl
defines many codes, of which the following are a subset:
Code | Display |
MONDO:0005072 | neuroblastoma |
MONDO:0002749 | extracranial neuroblastoma |
MONDO:0008542 | tetralogy of fallot |
"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/mondo.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "Mondo"];
- fhir:CodeSystem.title [ fhir:value "Mondo Disease Ontology"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/mondo.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "Mondo"]; #
+ fhir:CodeSystem.title [ fhir:value "Mondo Disease Ontology"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -37,11 +37,11 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'"];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'"]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "MONDO:0005072" ];
@@ -54,7 +54,7 @@
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "MONDO:0008542" ];
fhir:CodeSystem.concept.display [ fhir:value "tetralogy of fallot" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-mondo.ttl.html b/CodeSystem-mondo.ttl.html
index 3b54a1da..3ef87a1e 100644
--- a/CodeSystem-mondo.ttl.html
+++ b/CodeSystem-mondo.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Mondo Disease Ontology - TTL Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,19 +294,19 @@ : Mondo Disease Ontology - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "mondo"];
+ fhir:Resource.id [ fhir:value "mondo"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://purl.obolibrary.org/obo/mondo.owl</code> defines many codes, of which the following are a subset:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">MONDO:0005072<a name=\"mondo-MONDO.580005072\"> </a></td><td>neuroblastoma</td></tr><tr><td style=\"white-space:nowrap\">MONDO:0002749<a name=\"mondo-MONDO.580002749\"> </a></td><td>extracranial neuroblastoma</td></tr><tr><td style=\"white-space:nowrap\">MONDO:0008542<a name=\"mondo-MONDO.580008542\"> </a></td><td>tetralogy of fallot</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/mondo.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "Mondo"];
- fhir:CodeSystem.title [ fhir:value "Mondo Disease Ontology"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/mondo.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "Mondo"]; #
+ fhir:CodeSystem.title [ fhir:value "Mondo Disease Ontology"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -322,11 +322,11 @@ : Mondo Disease Ontology - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'"];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'"]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "MONDO:0005072" ];
@@ -339,7 +339,7 @@ : Mondo Disease Ontology - TTL Representation
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "MONDO:0008542" ];
fhir:CodeSystem.concept.display [ fhir:value "tetralogy of fallot" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -377,7 +377,7 @@ : Mondo Disease Ontology - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-mondo.xlsx b/CodeSystem-mondo.xlsx
index 0f383352..3663bff0 100644
Binary files a/CodeSystem-mondo.xlsx and b/CodeSystem-mondo.xlsx differ
diff --git a/CodeSystem-mondo.xml b/CodeSystem-mondo.xml
index e00193a4..1bc8e341 100644
--- a/CodeSystem-mondo.xml
+++ b/CodeSystem-mondo.xml
@@ -11,7 +11,7 @@
-
+
diff --git a/CodeSystem-mondo.xml.html b/CodeSystem-mondo.xml.html
index a711eaf0..09edffab 100644
--- a/CodeSystem-mondo.xml.html
+++ b/CodeSystem-mondo.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : Mondo Disease Ontology - XML Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : Mondo Disease Ontology - XML Representation
<title value="Mondo Disease Ontology"/>
<status value="draft"/>
<experimental value="false"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -362,7 +362,7 @@ : Mondo Disease Ontology - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit-testing.html b/CodeSystem-ncit-testing.html
index ff04fd59..9026d36d 100644
--- a/CodeSystem-ncit-testing.html
+++ b/CodeSystem-ncit-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -266,7 +266,7 @@ CodeSystem: NCI Thesaurus - Testing
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -309,7 +309,7 @@ CodeSystem: NCI Thesaurus - Testing
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit.change.history.html b/CodeSystem-ncit.change.history.html
index 334fa935..02117836 100644
--- a/CodeSystem-ncit.change.history.html
+++ b/CodeSystem-ncit.change.history.html
@@ -154,7 +154,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -312,7 +312,7 @@ : NCIt - Change History
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit.html b/CodeSystem-ncit.html
index 2c230ae5..2616e386 100644
--- a/CodeSystem-ncit.html
+++ b/CodeSystem-ncit.html
@@ -150,7 +150,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -281,7 +281,7 @@ CodeSystem: NCI Thesaurus
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -349,7 +349,7 @@ CodeSystem: NCI Thesaurus
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit.json b/CodeSystem-ncit.json
index 1594be4e..266c93a7 100644
--- a/CodeSystem-ncit.json
+++ b/CodeSystem-ncit.json
@@ -1,55 +1,47 @@
-{
- "resourceType": "CodeSystem",
- "id": "ncit",
- "text": {
- "status": "generated",
- "div": "This code system http://purl.obolibrary.org/obo/ncit.owl
defines many codes, of which the following are a subset:
Code | Display |
C3270 | Neuroblastoma |
C5437 | Extracranial Neuroblastoma |
C84505 | Tetralogy of Fallot |
"
- },
- "url": "http://purl.obolibrary.org/obo/ncit.owl",
- "version": "0.2.0",
- "name": "NCIt",
- "title": "NCI Thesaurus",
- "status": "draft",
- "experimental": false,
- "date": "2022-11-28T21:07:57+00:00",
- "publisher": "NCPI FHIR Working Group",
- "contact": [
- {
- "name": "NCPI FHIR Working Group",
- "telecom": [
- {
- "system": "url",
- "value": "https://github.com/nih-ncpi"
- }
- ]
- },
- {
- "name": "Meen Chul Kim",
- "telecom": [
- {
- "system": "email",
- "value": "meenchul@d3b.center",
- "use": "work"
- }
- ]
- }
- ],
- "description": "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities.",
- "caseSensitive": true,
- "content": "fragment",
- "count": 3,
- "concept": [
- {
- "code": "C3270",
- "display": "Neuroblastoma"
- },
- {
- "code": "C5437",
- "display": "Extracranial Neuroblastoma"
- },
- {
- "code": "C84505",
- "display": "Tetralogy of Fallot"
- }
- ]
+{
+ "resourceType" : "CodeSystem",
+ "id" : "ncit",
+ "text" : {
+ "status" : "generated",
+ "div" : "This code system http://purl.obolibrary.org/obo/ncit.owl
defines many codes, of which the following are a subset:
Code | Display |
C3270 | Neuroblastoma |
C5437 | Extracranial Neuroblastoma |
C84505 | Tetralogy of Fallot |
"
+ },
+ "url" : "http://purl.obolibrary.org/obo/ncit.owl",
+ "version" : "0.2.0",
+ "name" : "NCIt",
+ "title" : "NCI Thesaurus",
+ "status" : "draft",
+ "experimental" : false,
+ "date" : "2022-12-09T17:30:30+00:00",
+ "publisher" : "NCPI FHIR Working Group",
+ "contact" : [{
+ "name" : "NCPI FHIR Working Group",
+ "telecom" : [{
+ "system" : "url",
+ "value" : "https://github.com/nih-ncpi"
+ }]
+ },
+ {
+ "name" : "Meen Chul Kim",
+ "telecom" : [{
+ "system" : "email",
+ "value" : "meenchul@d3b.center",
+ "use" : "work"
+ }]
+ }],
+ "description" : "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities.",
+ "caseSensitive" : true,
+ "content" : "fragment",
+ "count" : 3,
+ "concept" : [{
+ "code" : "C3270",
+ "display" : "Neuroblastoma"
+ },
+ {
+ "code" : "C5437",
+ "display" : "Extracranial Neuroblastoma"
+ },
+ {
+ "code" : "C84505",
+ "display" : "Tetralogy of Fallot"
+ }]
}
\ No newline at end of file
diff --git a/CodeSystem-ncit.json.html b/CodeSystem-ncit.json.html
index 262fb7bb..1e2a6849 100644
--- a/CodeSystem-ncit.json.html
+++ b/CodeSystem-ncit.json.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : NCI Thesaurus - JSON Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : NCI Thesaurus - JSON Representation
"title" : "NCI Thesaurus",
"status" : "draft",
"experimental" : false,
- "date" : "2022-11-28T21:07:57+00:00",
+ "date" : "2022-12-09T17:30:30+00:00",
"publisher" : "NCPI FHIR Working Group",
"contact" : [
{
@@ -369,7 +369,7 @@ : NCI Thesaurus - JSON Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit.ttl b/CodeSystem-ncit.ttl
index 4d17fdea..57d193ec 100644
--- a/CodeSystem-ncit.ttl
+++ b/CodeSystem-ncit.ttl
@@ -7,19 +7,19 @@
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "ncit"];
+ fhir:Resource.id [ fhir:value "ncit"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "This code system http://purl.obolibrary.org/obo/ncit.owl
defines many codes, of which the following are a subset:
Code | Display |
C3270 | Neuroblastoma |
C5437 | Extracranial Neuroblastoma |
C84505 | Tetralogy of Fallot |
"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/ncit.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "NCIt"];
- fhir:CodeSystem.title [ fhir:value "NCI Thesaurus"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/ncit.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "NCIt"]; #
+ fhir:CodeSystem.title [ fhir:value "NCI Thesaurus"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -37,11 +37,11 @@
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ]
]
- ];
- fhir:CodeSystem.description [ fhir:value "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities."];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities."]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "C3270" ];
@@ -54,7 +54,7 @@
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "C84505" ];
fhir:CodeSystem.concept.display [ fhir:value "Tetralogy of Fallot" ]
- ] .
+ ] . #
# - ontology header ------------------------------------------------------------
diff --git a/CodeSystem-ncit.ttl.html b/CodeSystem-ncit.ttl.html
index 2d006506..995692ae 100644
--- a/CodeSystem-ncit.ttl.html
+++ b/CodeSystem-ncit.ttl.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : NCI Thesaurus - TTL Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -294,19 +294,19 @@ : NCI Thesaurus - TTL Representation
a fhir:CodeSystem;
fhir:nodeRole fhir:treeRoot;
- fhir:Resource.id [ fhir:value "ncit"];
+ fhir:Resource.id [ fhir:value "ncit"]; #
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://purl.obolibrary.org/obo/ncit.owl</code> defines many codes, of which the following are a subset:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">C3270<a name=\"ncit-C3270\"> </a></td><td>Neuroblastoma</td></tr><tr><td style=\"white-space:nowrap\">C5437<a name=\"ncit-C5437\"> </a></td><td>Extracranial Neuroblastoma</td></tr><tr><td style=\"white-space:nowrap\">C84505<a name=\"ncit-C84505\"> </a></td><td>Tetralogy of Fallot</td></tr></table></div>"
- ];
- fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/ncit.owl"];
- fhir:CodeSystem.version [ fhir:value "0.2.0"];
- fhir:CodeSystem.name [ fhir:value "NCIt"];
- fhir:CodeSystem.title [ fhir:value "NCI Thesaurus"];
- fhir:CodeSystem.status [ fhir:value "draft"];
- fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean];
- fhir:CodeSystem.date [ fhir:value "2022-11-28T21:07:57+00:00"^^xsd:dateTime];
- fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"];
+ ]; #
+ fhir:CodeSystem.url [ fhir:value "http://purl.obolibrary.org/obo/ncit.owl"]; #
+ fhir:CodeSystem.version [ fhir:value "0.2.0"]; #
+ fhir:CodeSystem.name [ fhir:value "NCIt"]; #
+ fhir:CodeSystem.title [ fhir:value "NCI Thesaurus"]; #
+ fhir:CodeSystem.status [ fhir:value "draft"]; #
+ fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean]; #
+ fhir:CodeSystem.date [ fhir:value "2022-12-09T17:30:30+00:00"^^xsd:dateTime]; #
+ fhir:CodeSystem.publisher [ fhir:value "NCPI FHIR Working Group"]; #
fhir:CodeSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "NCPI FHIR Working Group" ];
@@ -322,11 +322,11 @@ : NCI Thesaurus - TTL Representation
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "meenchul@d3b.center" ];
fhir:ContactPoint.use [ fhir:value "work" ] ]
- ];
- fhir:CodeSystem.description [ fhir:value "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities."];
- fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean];
- fhir:CodeSystem.content [ fhir:value "fragment"];
- fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger];
+ ]; #
+ fhir:CodeSystem.description [ fhir:value "NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities."]; #
+ fhir:CodeSystem.caseSensitive [ fhir:value "true"^^xsd:boolean]; #
+ fhir:CodeSystem.content [ fhir:value "fragment"]; #
+ fhir:CodeSystem.count [ fhir:value "3"^^xsd:nonNegativeInteger]; #
fhir:CodeSystem.concept [
fhir:index 0;
fhir:CodeSystem.concept.code [ fhir:value "C3270" ];
@@ -339,7 +339,7 @@ : NCI Thesaurus - TTL Representation
fhir:index 2;
fhir:CodeSystem.concept.code [ fhir:value "C84505" ];
fhir:CodeSystem.concept.display [ fhir:value "Tetralogy of Fallot" ]
- ].
+ ]. #
# - ontology header ------------------------------------------------------------
@@ -377,7 +377,7 @@ : NCI Thesaurus - TTL Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncit.xlsx b/CodeSystem-ncit.xlsx
index 90e69631..8deb6636 100644
Binary files a/CodeSystem-ncit.xlsx and b/CodeSystem-ncit.xlsx differ
diff --git a/CodeSystem-ncit.xml b/CodeSystem-ncit.xml
index 6f4903ff..e05e70e7 100644
--- a/CodeSystem-ncit.xml
+++ b/CodeSystem-ncit.xml
@@ -11,7 +11,7 @@
-
+
diff --git a/CodeSystem-ncit.xml.html b/CodeSystem-ncit.xml.html
index fddefa55..90d8b71f 100644
--- a/CodeSystem-ncit.xml.html
+++ b/CodeSystem-ncit.xml.html
@@ -152,7 +152,7 @@
Childhood Cancer
- Using "Source" Data
+ Using "Source" Data
EHR Data
@@ -268,7 +268,7 @@ : NCI Thesaurus - XML Representation
Draft
- as of 2022-11-28
+ as of 2022-12-09
@@ -298,7 +298,7 @@ : NCI Thesaurus - XML Representation
<title value="NCI Thesaurus"/>
<status value="draft"/>
<experimental value="false"/>
- <date value="2022-11-28T21:07:57+00:00"/>
+ <date value="2022-12-09T17:30:30+00:00"/>
<publisher value="NCPI FHIR Working Group"/>
<contact>
<name value="NCPI FHIR Working Group"/>
@@ -362,7 +362,7 @@ : NCI Thesaurus - XML Representation
- IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-11-28
+ IG © 2021+ NCPI FHIR Working Group. Package NCPI-FHIR-Implementation-Guide#0.2.0 based on FHIR 4.0.1. Generated 2022-12-09
Links: Table of Contents |
diff --git a/CodeSystem-ncpi-data-types-testing.html b/CodeSystem-ncpi-data-types-testing.html
index 2618940e..e878f3a4 100644
--- a/CodeSystem-ncpi-data-types-testing.html
+++ b/CodeSystem-ncpi-data-types-testing.html
@@ -150,7 +150,7 @@
Childhood Cancer
-