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Added disease_profile module to donor_organism. Fixes#1578 #1579

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merged 13 commits into from
Sep 30, 2024
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15 changes: 14 additions & 1 deletion docs/jsonBrowser/module.md
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Expand Up @@ -460,6 +460,20 @@ dlco_predicted_percent | Indicate the percentage of the predicted DLCO, based on
kco | Indicate the transfer coefficient of the lung for carbon monoxide (KCO) in mmol/min/kPa/L if available. | number | no | | KCO | | 5; 6; 4.5
kco_predicted_percent | Indicate the percentage of the predicted KCO, based on patient demographics, if available. | number | no | | KCO percent of predicted | | 90; 98; 85

## Disease profile<a name='Disease profile'></a>
_Information about specific diseases profile of the individual._

Location: module/biomaterial/disease_profile.json

Property name | Description | Type | Required? | Object reference? | User friendly name | Allowed values | Example
--- | --- | --- | --- | --- | --- | --- | ---
copd_gold_stage | Indicating current GOLD stage (Global Initiative for Chronic Obstructive Lung Disease). | integer | no | | GOLD stage | 1, 2, 3, 4 | 1; 2; 3; 4
copd_mmrc_grade | Indicate the Modified British Medical Research Council (mMRC) dyspnea scale grade. | integer | no | | mMRC grade | 0, 1, 2, 3, 4 | 0, 1; 2; 3; 4
copd_cat_score | Indicate the COPD Assessment Test (CAT) score. | integer | no | | CAT score | | 2; 5; 37
copd_gold_abe_assessment | Indicate the Global Initiative for Chronic Obstructive Lung Disease (GOLD) A, B, C, D assessment group if available. | string | no | | GOLD ABE assessment | A, B, E | A; B; E
copd_phenotype | Indicate the COPD disease phenotype(s) of donor. Please indicate all applicable phenotypes of donor. | array | no | | COPD phenotype | COPD not otherwise specified, COPD with emphysema, COPD with bronchitis, COPD with history of asthma, COPD with >300 eos in blood, COPD with allergy, COPD with Chronic Mucus Hypersecretion, COPD with frequent exacerbations | COPD with bronchitis; COPD with history of asthma; COPD with emphysema
copd_emphysema_percentage | Indicate the percentage of the lung that is affected by emphysema as judged based on non-invasive imaging, such as from a CT scan. | number | no | | Percentage of emphysema | | 30; 76; 92

## Preservation and storage<a name='Preservation and storage'></a>
_Information relating to how a biomaterial was preserved and/or stored over a period of time._

Expand Down Expand Up @@ -620,4 +634,3 @@ Property name | Description | Type | Required? | Object reference? | User friend
plate_label | A label or name for the plate on which the well is located. | string | yes | | Plate label | | 2217
well_label | A label or name for the well in which the cell is located. | string | no | | Well label | | A1
well_quality | Quality of well if imaged before sequencing. | string | no | | Well quality | OK, control, 2-cell well, control, empty well, low quality cell | Should be one of: 'OK', 'control, 2-cell well', 'control, empty well', or 'low quality cell'.

2 changes: 2 additions & 0 deletions docs/jsonBrowser/required_fields.md
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Expand Up @@ -352,6 +352,8 @@ _There are no required properties in schema Human-specific_
_There are no required properties in schema Growth conditions_
### Medical tests<a name='Medical tests'></a>
_There are no required properties in schema Medical tests_
### Disease profile<a name='Disease profile'></a>
_There are no required properties in schema Disease profile_
### Preservation and storage<a name='Preservation and storage'></a>
_There are no required properties in schema Preservation and storage_
### Death<a name='Death'></a>
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1 change: 1 addition & 0 deletions docs/jsonBrowser/type.md
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Expand Up @@ -434,6 +434,7 @@ diseases | Short description of known disease(s) of the organism. | array | no |
death | Information about conditions of death of the organism. | object | no | [See module death](module.md#death) | Death conditions | |
familial_relationships | Information about other organisms related to this organism. | array | no | [See module familial_relationship](module.md#familial-relationship) | Familial relationship | |
medical_tests | Information about the medical tests of the organism. | object | no | [See module medical_tests](module.md#medical-tests) | Medical tests | |
disease_profile | Information about specific diseases profile of the individual. | object | no | [See module disease_profile](module.md#disease-profile) | Disease profile | |
medical_history | Information about the medical history of the organism. | object | no | [See module medical_history](module.md#medical-history) | Medical history | |
gestational_age | Gestational age of pregnancy in Gestational age units measured from the last menstrual period. | string | no | | Gestational age | | 22; 8-9
gestational_age_unit | The unit in which Gestational age is expressed. | object | no | [See module time_unit_ontology](module.md#time-unit-ontology) | Gestational age unit | |
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82 changes: 82 additions & 0 deletions json_schema/module/biomaterial/disease_profile.json
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@@ -0,0 +1,82 @@
{
"$schema": "http://json-schema.org/draft-07/schema#",
"description": "Information about specific diseases profile of the individual.",
"additionalProperties": false,
"title": "Disease profile",
"name": "disease_profile",
"type": "object",
"minProperties": 1,
"properties": {
"describedBy": {
"description": "The URL reference to the schema.",
"type": "string",
"pattern" : "^(http|https)://schema.(.*?)humancellatlas.org/module/biomaterial/(([0-9]{1,}.[0-9]{1,}.[0-9]{1,})|([a-zA-Z]*?))/medical_tests"
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},
"schema_version": {
"description": "The version number of the schema in major.minor.patch format.",
"type": "string",
"pattern": "^[0-9]{1,}.[0-9]{1,}.[0-9]{1,}$",
"example": "0.0.1"
},
"copd_gold_stage": {
"user_friendly": "GOLD stage",
"description": "Indicating current GOLD stage (Global Initiative for Chronic Obstructive Lung Disease).",
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"type": "integer",
"enum": [1, 2, 3, 4],
"example": "1; 2; 3; 4",
"bionetworks": ["lung"],
"guidelines": "Should be one of 1, 2, 3, 4"
},
"copd_mmrc_grade": {
"user_friendly": "mMRC grade",
"description": "Indicate the Modified British Medical Research Council (mMRC) dyspnea scale grade.",
"type": "integer",
"enum": [0, 1, 2, 3, 4],
"example": "0, 1; 2; 3; 4",
"bionetworks": ["lung"],
"guidelines": "Should be one of 0, 1, 2, 3, 4"
},
"copd_cat_score": {
"user_friendly": "CAT score",
"description": "Indicate the COPD Assessment Test (CAT) score.",
"type": "integer",
"minimum": 0,
"maximum": 40,
"example": "2; 5; 37",
"bionetworks": ["lung"],
"guidelines": "Should be between 0 and 40."
},
"copd_gold_abe_assessment": {
"user_friendly": "GOLD ABE assessment",
"description": "Indicate the Global Initiative for Chronic Obstructive Lung Disease (GOLD) A, B, C, D assessment group if available.",
"type": "string",
"enum": ["A", "B", "E"],
"example": "A; B; E",
"bionetworks": ["lung"],
"guidelines": "Should be one of A, B, E"

},
"copd_phenotype": {
"user_friendly": "COPD phenotype",
"description": "Indicate the COPD disease phenotype(s) of donor. Please indicate all applicable phenotypes of donor.",
"type": "array",
"items": {
"type": "string",
"enum": ["COPD not otherwise specified", "COPD with emphysema", "COPD with bronchitis",
"COPD with history of asthma", "COPD with >300 eos in blood", "COPD with allergy",
"COPD with Chronic Mucus Hypersecretion", "COPD with frequent exacerbations"]
},
"example": "COPD with bronchitis; COPD with history of asthma; COPD with emphysema",
"bionetworks": ["lung"],
"guidelines": "Should be of: COPD not otherwise specified, COPD with emphysema, COPD with bronchitis, COPD with history of asthma, COPD with >300 eos in blood, COPD with allergy, COPD with Chronic Mucus Hypersecretion, COPD with frequent exacerbations"
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},
"copd_emphysema_percentage": {
"user_friendly": "Percentage of emphysema",
"description": "Indicate the percentage of the lung that is affected by emphysema as judged based on non-invasive imaging, such as from a CT scan.",
"type": "number",
"maximum": 150,
"minimum": 0,
"bionetworks": ["lung"]
}
}
}
6 changes: 6 additions & 0 deletions json_schema/type/biomaterial/donor_organism.json
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Expand Up @@ -137,6 +137,12 @@
"$ref": "module/biomaterial/medical_tests.json",
"user_friendly": "Medical tests"
},
"disease_profile": {
"description": "Information about specific diseases profile of the individual.",
"type": "object",
"$ref": "module/biomaterial/disease_profile.json",
"user_friendly": "Disease profile"
},
"medical_history": {
"description": "Information about the medical history of the organism.",
"type": "object",
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2 changes: 2 additions & 0 deletions json_schema/update_log.csv
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@@ -1 +1,3 @@
Schema,Change type,Change message,Version,Date
module/biomaterial/disease_profile,major,"Added new disease profile module with COPD fields. Fixes#1572",,
type/biomaterial/donor_organism,minor,"Added an optional disease profile field in the donor_organism. Fixes#1572"
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