diff --git a/.github/workflows/ontology_diff.yml b/.github/workflows/ontology_diff.yml new file mode 100644 index 000000000..c5b036c36 --- /dev/null +++ b/.github/workflows/ontology_diff.yml @@ -0,0 +1,139 @@ +name: 'Create OAK diffs on Pull requests' + +on: + # Triggers the workflow on pull request events for the master branch + pull_request: + branches: [ master ] + + # Allows you to run this workflow manually from the Actions tab + workflow_dispatch: + +# A workflow run is made up of one or more jobs that can run sequentially or in parallel +jobs: + build_branch: + runs-on: ubuntu-latest + container: obolibrary/odkfull:v1.5 + steps: + - uses: actions/checkout@v4 + - name: Build ontology + run: | + cd src/ontology; make IMP=FALSE PAT=FALSE MIR=FALSE hp.obo -B + cp hp.obo tmp/hp-branch.obo + - name: Upload tmp/hp-branch.obo + uses: actions/upload-artifact@v4 + with: + name: hp-branch.obo + path: src/ontology/tmp/hp-branch.obo + retention-days: 1 + build_main: + runs-on: ubuntu-latest + container: obolibrary/odkfull:v1.5 + steps: + - uses: actions/checkout@v3 + with: + ref: master + - name: Classify ontology + run: | + cd src/ontology; make IMP=FALSE PAT=FALSE MIR=FALSE hp.obo -B + cp hp.obo tmp/hp-main.obo + - name: Upload tmp/hp-main.obo + uses: actions/upload-artifact@v4 + with: + name: hp-main.obo + path: src/ontology/tmp/hp-main.obo + retention-days: 1 + diff: + needs: + - build_branch + - build_main + runs-on: ubuntu-latest + container: obolibrary/odkfull:v1.5 + steps: + - uses: actions/checkout@v4 + - name: Download main build + uses: actions/download-artifact@v4 + with: + name: hp-main.obo + path: src/ontology/tmp/ + - name: Download branch build + uses: actions/download-artifact@v4 + with: + name: hp-branch.obo + path: src/ontology/tmp/ + - name: Diff classification + run: | + pip install -U oaklib + cd src/ontology; + runoak -i simpleobo:tmp/hp-main.obo diff -X simpleobo:tmp/hp-branch.obo -o reports/difference_main-branch_base.md --output-type md + - name: Upload diff + uses: actions/upload-artifact@v4 + with: + name: difference_main-branch_base.md + path: src/ontology/reports/difference_main-branch_base.md + post_comment: + needs: diff + runs-on: ubuntu-latest + steps: + - uses: actions/checkout@v3 + - name: Download reasoned diff + uses: actions/download-artifact@v4 + with: + name: difference_main-branch_base.md + path: src/ontology/reports/ + # - name: Prepare reasoned comment + # run: "echo \"
\n Here's a diff of how these changes impact the classified ontology: \n\" >comment.md; cat src/ontology/reports/difference_main-branch_base.md >>comment.md" + # - name: Post reasoned comment + # env: + # GITHUB_TOKEN: ${{ secrets.GITHUB_TOKEN }} + # uses: NejcZdovc/comment-pr@v1.1.1 + # with: + # github_token: ${{ secrets.GITHUB_TOKEN }} + # file: "../../comment.md" + # identifier: "REASONED" + # Post or update comment on pull request if difference_md.md exists + - name: Post or update comment on pull request + uses: actions/github-script@v7 + with: + script: | + const fs = require('fs'); + const path = 'src/ontology/reports/difference_main-branch_base.md'; + if (fs.existsSync(path)) { + let content = fs.readFileSync(path, 'utf8'); + if (content) { + // GitHub's max issue body size is approximately 65536 characters + const maxBodySize = 65536; + const truncateMsg = '\n
\n\n ### WARNING: This diff is too large and has been truncated. For full diff see [here](https://github.com/${{ github.repository }}/blob/${{ github.head_ref }}/src/ontology/reports/difference_main-branch_base.md).'; + if (content.length > maxBodySize) { + // Truncate the content to fit within the GitHub comment size limit + content = content.substring(0, maxBodySize - truncateMsg.length) + truncateMsg; + } + + const { owner, repo } = context.repo; + const { number } = context.issue; + const existingComments = await github.rest.issues.listComments({ + owner, + repo, + issue_number: number + }); + const existingComment = existingComments.data.find(comment => comment.user.login === 'github-actions[bot]'); + if (existingComment) { + await github.rest.issues.updateComment({ + owner, + repo, + comment_id: existingComment.id, + body: content + }); + } else { + await github.rest.issues.createComment({ + owner, + repo, + issue_number: number, + body: content + }); + } + } else { + console.log("The markdown file is empty."); // Debug print if the file is empty + } + } else { + console.log("The markdown file does not exist."); // Debug print if the file does not exist + } \ No newline at end of file diff --git a/src/ontology/hp.Makefile b/src/ontology/hp.Makefile index b50ea7b0c..297076af7 100644 --- a/src/ontology/hp.Makefile +++ b/src/ontology/hp.Makefile @@ -577,3 +577,33 @@ $(TMPDIR)/hp-%-merged.owl: hp-base.owl tmp/%.owl mappings: $(MAKE_FAST) ../mappings/hp-snomed.lexmatch.sssom.tsv + +################## +### KGCL Diff #### +################## + +.PHONY: kgcl-diff +kgcl-diff: kgcl-diff-release-base + +.PHONY: kgcl-diff-md-release-base kgcl-diff-table-release-base kgcl-diff-txt-release-base kgcl-diff-yaml-release-base +kgcl-diff-md-release-base: reports/difference_release_base.md +kgcl-diff-table-release-base: reports/difference_release_base.tsv +kgcl-diff-txt-release-base: reports/difference_release_base.txt +kgcl-diff-yaml-release-base: reports/difference_release_base.yaml +kgcl-diff-release-base: kgcl-diff-md-release-base kgcl-diff-table-release-base kgcl-diff-txt-release-base kgcl-diff-yaml-release-base + +tmp/hp-released.obo: + wget http://purl.obolibrary.org/obo/hp.obo -O tmp/hp-released.obo + +reports/difference_release_base.md: tmp/hp-released.obo hp.obo + runoak -i simpleobo:tmp/hp-released.obo diff -X simpleobo:hp.obo -o $@ --output-type md + +reports/difference_release_base.tsv: tmp/hp-released.obo hp.obo + runoak -i simpleobo:tmp/hp-released.obo diff -X simpleobo:hp.obo \ + -o $@ --output-type csv --statistics --group-by-property oio:hasOBONamespace + +reports/difference_release_base.txt: tmp/hp-released.obo hp.obo + runoak -i simpleobo:tmp/hp-released.obo diff -X simpleobo:hp.obo -o $@ --output-type kgcl + +reports/difference_release_base.yaml: tmp/hp-released.obo hp.obo + runoak -i simpleobo:tmp/hp-released.obo diff -X simpleobo:hp.obo -o $@ --output-type yaml diff --git a/src/ontology/reports/difference_release_base.md b/src/ontology/reports/difference_release_base.md new file mode 100644 index 000000000..9ba688d0c --- /dev/null +++ b/src/ontology/reports/difference_release_base.md @@ -0,0 +1,3128 @@ +
+Nodes removed: 830 + +| Term | +----| +| HP:6000054 | +| HP:6000221 | +| HP:5200299 | +| HP:0034875 | +| HP:0034934 | +| HP:0034798 | +| HP:5200211 | +| HP:0020270 | +| HP:0020268 | +| HP:0020291 | +| HP:6000185 | +| HP:0034985 | +| HP:0034952 | +| HP:0034903 | +| HP:5200418 | +| HP:6000017 | +| HP:5200421 | +| HP:0034862 | +| HP:0034917 | +| HP:0034890 | +| HP:6000168 | +| HP:6000056 | +| HP:0040410 | +| HP:6000228 | +| HP:6000207 | +| HP:0034962 | +| HP:5200208 | +| HP:0020243 | +| HP:0040417 | +| HP:6000208 | +| HP:6000158 | +| HP:6000025 | +| HP:5200234 | +| HP:0430087 | +| HP:0035029 | +| HP:0034923 | +| HP:0430064 | +| HP:6000088 | +| HP:0430047 | +| HP:6000256 | +| HP:0035009 | +| HP:6000006 | +| HP:0020261 | +| HP:6000094 | +| HP:0020227 | +| HP:0035016 | +| HP:0020225 | +| HP:0020289 | +| HP:6000273 | +| HP:4000196 | +| HP:0020244 | +| HP:0020231 | +| HP:0034865 | +| HP:6000189 | +| HP:6000226 | +| HP:5200328 | +| HP:0034921 | +| HP:6000072 | +| HP:6000171 | +| HP:0034855 | +| HP:0034965 | +| HP:6000051 | +| HP:0034913 | +| HP:6000215 | +| HP:6000098 | +| HP:0020224 | +| HP:6000068 | +| HP:6000070 | +| HP:6000007 | +| HP:5200428 | +| HP:5200412 | +| HP:0034928 | +| HP:0430089 | +| HP:6000053 | +| HP:0034931 | +| HP:0020239 | +| HP:0034994 | +| HP:6000126 | +| HP:6000201 | +| HP:0034826 | +| HP:6000248 | +| HP:6000169 | +| HP:0034955 | +| HP:6000234 | +| HP:0020283 | +| HP:0034979 | +| HP:6000024 | +| HP:4000205 | +| HP:6000190 | +| HP:5200273 | +| HP:0034852 | +| HP:6000183 | +| HP:0430091 | +| HP:0430079 | +| HP:5200310 | +| HP:0430081 | +| HP:5200307 | +| HP:0020279 | +| HP:5200207 | +| HP:6000197 | +| HP:6000041 | +| HP:5200323 | +| HP:0034927 | +| HP:0034880 | +| HP:6000268 | +| HP:0035013 | +| HP:0020275 | +| HP:4000207 | +| HP:0040426 | +| HP:6000255 | +| HP:5200213 | +| HP:6000049 | +| HP:0034843 | +| HP:5200353 | +| HP:6000091 | +| HP:6000044 | +| HP:0020251 | +| HP:6000067 | +| HP:0020254 | +| HP:0430097 | +| HP:6000029 | +| HP:0034849 | +| HP:6000232 | +| HP:5200305 | +| HP:0034949 | +| HP:5200216 | +| HP:5200322 | +| HP:0034901 | +| HP:0034900 | +| HP:0034838 | +| HP:6000077 | +| HP:6000257 | +| HP:0034889 | +| HP:5200212 | +| HP:6000042 | +| HP:6000089 | +| HP:0034850 | +| HP:5200267 | +| HP:5200405 | +| HP:5200271 | +| HP:5200270 | +| HP:0430057 | +| HP:6000082 | +| HP:6000160 | +| HP:0020240 | +| HP:0034940 | +| HP:5200332 | +| HP:0430092 | +| HP:5200417 | +| HP:0034833 | +| HP:6000192 | +| HP:0035021 | +| HP:4000200 | +| HP:6000058 | +| HP:6000011 | +| HP:5200290 | +| HP:0034854 | +| HP:6000236 | +| HP:0034861 | +| HP:0035002 | +| HP:0040415 | +| HP:6000240 | +| HP:0034887 | +| HP:6000071 | +| HP:0034897 | +| HP:6000004 | +| HP:0034814 | +| HP:6000050 | +| HP:6000180 | +| HP:0430069 | +| HP:6000275 | +| HP:0034858 | +| HP:0040403 | +| HP:6000186 | +| HP:0034986 | +| HP:0034910 | +| HP:6000038 | +| HP:4000206 | +| HP:0034936 | +| HP:6000176 | +| HP:0430088 | +| HP:6000145 | +| HP:0034829 | +| HP:6000249 | +| HP:5200297 | +| HP:0430037 | +| HP:0040411 | +| HP:0020272 | +| HP:6000170 | +| HP:6000246 | +| HP:0034972 | +| HP:0040404 | +| HP:0034801 | +| HP:5200360 | +| HP:6000117 | +| HP:6000021 | +| HP:4000209 | +| HP:6000066 | +| HP:0034809 | +| HP:0020228 | +| HP:6000159 | +| HP:0020250 | +| HP:6000153 | +| HP:4000191 | +| HP:0034944 | +| HP:6000173 | +| HP:6000000 | +| HP:0430063 | +| HP:0034884 | +| HP:5200218 | +| HP:0034980 | +| HP:4000195 | +| HP:0430093 | +| HP:5200402 | +| HP:5200217 | +| HP:0034868 | +| HP:0034919 | +| HP:6000225 | +| HP:5200294 | +| HP:0034856 | +| HP:6000241 | +| HP:6000146 | +| HP:6000222 | +| HP:0034808 | +| HP:5200321 | +| HP:6000217 | +| HP:0034886 | +| HP:0034902 | +| HP:5200419 | +| HP:0020267 | +| HP:0020266 | +| HP:0034797 | +| HP:0035022 | +| HP:0020241 | +| HP:6000140 | +| HP:5200275 | +| HP:6000027 | +| HP:6000259 | +| HP:5200298 | +| HP:5200239 | +| HP:0034922 | +| HP:6000151 | +| HP:5200311 | +| HP:0020258 | +| HP:5200200 | +| HP:0034846 | +| 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HP:0020247 | +| HP:6000194 | +| HP:0020249 | +| HP:6000193 | +| HP:5200357 | +| HP:6000205 | +| HP:6000155 | +| HP:0035024 | +| HP:0430062 | +| HP:0430070 | +| HP:5200337 | +| HP:5200261 | +| HP:6000200 | +| HP:0035012 | +| HP:6000104 | +| HP:6000138 | +| HP:0034818 | +| HP:6000046 | +| HP:6000013 | +| HP:0034894 | +| HP:6000109 | +| HP:5200403 | +| HP:0034877 | +| HP:0034864 | +| HP:0020288 | +| HP:6000243 | +| HP:0035032 | +| HP:6000154 | +| HP:0034966 | +| HP:0020296 | +| HP:0040418 | +| HP:6000254 | +| HP:4000197 | +| HP:0034844 | +| HP:5200325 | +| HP:0034948 | +| HP:6000235 | +| HP:6000078 | +| HP:6000165 | +| HP:0040422 | +| HP:6000112 | +| HP:0035018 | +| HP:6000266 | +| HP:6000198 | +| HP:6000057 | +| HP:5200422 | +| HP:6000095 | +| HP:0430050 | +| HP:6000174 | +| HP:0034904 | +| HP:0034974 | +| HP:0035001 | +| HP:0020277 | +| HP:0040405 | +| HP:0020292 | +| HP:5200362 | +| HP:5200276 | +| HP:4000213 | +| HP:5200316 | +| HP:6000216 | +| HP:0034973 | +| HP:4000192 | +| HP:5200430 | +| HP:5200363 | +| HP:6000220 | +| HP:0034859 | +| HP:5200289 | +| HP:6000260 | +| HP:5200315 | +| HP:6000079 | +| HP:0034819 | +| HP:0430056 | +| HP:0034795 | +| HP:0430058 | +| HP:0034807 | +| HP:0034882 | +| HP:6000063 | +| HP:0020246 | +| HP:6000184 | +| HP:0034840 | +| HP:0040408 | +| HP:0034951 | +| HP:0034806 | +| HP:6000016 | +| HP:5200238 | +| HP:6000002 | +| HP:0430082 | +| HP:0034816 | +| HP:6000080 | +| HP:6000093 | +| HP:6000125 | +| HP:5200409 | +| HP:5200205 | +| HP:4000189 | +| HP:6000116 | +| HP:0040423 | +| HP:5200335 | +| HP:0020237 | +| HP:0034905 | +| HP:0034866 | +| HP:0034891 | +| HP:6000106 | +| HP:5200358 | +| HP:0034918 | +| HP:5200333 | +| HP:0034987 | +| HP:0034969 | +| HP:0040406 | +| HP:5200356 | +| HP:6000033 | +| HP:6000047 | +| HP:0034911 | +| HP:5200415 | +| HP:6000081 | +| HP:6000204 | +| HP:6000003 | +| HP:6000018 | +| HP:6000177 | +| HP:5200292 | +| HP:0035003 | +| HP:6000144 | +| HP:6000074 | +| HP:6000210 | +| HP:6000102 | +| HP:0034981 | +| HP:5200227 | +| HP:0430073 | +| HP:0040425 | +| HP:0034929 | +| HP:6000040 | +| HP:0034959 | +| HP:6000212 | +| HP:6000271 | +| HP:0034813 | +| HP:0034977 | +| HP:0035007 | +| HP:6000137 | +| HP:0034867 | +| HP:0034803 | +| HP:5200327 | +| HP:4000187 | +| HP:0035008 | +| HP:0034935 | +| HP:6000175 | +| HP:6000086 | +| HP:6000075 | +| HP:6000139 | +| HP:4000198 | +| HP:5200341 | +| HP:6000143 | +| HP:6000164 | +| HP:0034857 | +| HP:5200287 | +| HP:6000129 | +| HP:0034893 | +| HP:0034841 | +| HP:0430052 | +| HP:0020278 | +| HP:0034967 | +| HP:0034892 | +| HP:0040414 | +| HP:0035026 | +| HP:6000188 | +| HP:0020248 | +| HP:0430046 | +| HP:0035025 | +| HP:6000199 | +| HP:0430043 | +| HP:4000202 | +| HP:5200243 | +| HP:0035030 | +| HP:6000157 | +| HP:5200293 | +| HP:0034954 | +| HP:6000265 | +| HP:5200329 | +| HP:6000005 | +| HP:0430034 | +| HP:4000208 | +| HP:0034925 | +| HP:0034997 | +| HP:5200300 | +| HP:5200295 | +| HP:6000229 | +| HP:6000134 | +| HP:6000118 | +| HP:6000149 | +| HP:0034957 | +| HP:6000231 | +| HP:0034912 | +| HP:0034832 | +| HP:6000105 | +| HP:0040420 | +| HP:6000252 | +| HP:0034942 | +| HP:5200209 | +| HP:0430090 | +| HP:6000172 | +| HP:0034937 | +| HP:0034961 | +| HP:6000039 | +| HP:6000019 | +| HP:0034876 | +| HP:0035027 | +| HP:0034991 | +| HP:6000195 | +| HP:6000090 | +| HP:0034908 | +| HP:5200265 | +| HP:5200425 | +| HP:0020235 | +| HP:6000209 | +| HP:6000162 | +| HP:5200231 | +| HP:0034960 | +| HP:0430068 | +| HP:6000179 | +| HP:6000270 | +| HP:6000103 | +| HP:0020236 | +| HP:5200338 | +| HP:6000055 | +| HP:0034888 | +| HP:0034896 | +| HP:0430065 | +| HP:6000124 | +| HP:0430084 | +| HP:0430066 | +| HP:6000250 | +| HP:6000152 | +| HP:0035028 | +| HP:0034996 | +| HP:5200242 | +| HP:6000031 | +| HP:0430085 | +| HP:0430095 | +| HP:0034970 | +| HP:0034916 | +| HP:0034898 | +| HP:0034823 | +| HP:0035033 | +| HP:0020276 | +| HP:5200427 | +| HP:0034871 | +| HP:6000076 | +| HP:0034794 | +| HP:6000023 | +| HP:6000110 | +| HP:6000028 | +| HP:6000064 | +| HP:6000022 | +| HP:0034983 | +| HP:6000178 | +| HP:6000010 | +| HP:6000133 | +| HP:0034811 | +| HP:0034824 | +| HP:0040413 | +| HP:0430036 | +| HP:0430067 | +| HP:6000247 | +| HP:0040412 | +| HP:6000136 | +| HP:5200296 | +| HP:0040421 | +| HP:5200406 | +| HP:6000048 | +| HP:6000135 | +| HP:0020257 | +| HP:0034953 | +| HP:6000223 | +| HP:5200320 | +| HP:6000239 | +| HP:0034958 | +| HP:0034825 | +| HP:0034827 | +| HP:6000114 | +| HP:0034860 | +| HP:6000245 | +| HP:0430059 | +| HP:0034926 | +| HP:5200215 | +| HP:0034984 | +| HP:0020284 | +| HP:0430080 | +| HP:0034847 | +| HP:4000203 | +| HP:6000092 | +| HP:6000272 | +| HP:0034834 | +| HP:0040402 | +| HP:6000100 | +| HP:6000147 | +| HP:0040407 | +| HP:6000045 | +| HP:0034943 | +| HP:6000150 | +| HP:6000262 | +| HP:0034796 | +| HP:0430100 | +| HP:6000163 | +| HP:5200352 | +| HP:0035004 | +| HP:0034933 | +| HP:6000008 | +| HP:0430030 | +| HP:0035020 | +| HP:5200407 | +| HP:5200304 | +| HP:6000182 | +| HP:5200269 | +| HP:6000202 | +| HP:4000194 | +| HP:0034938 | +| HP:5200283 | +| HP:0034914 | +| HP:0430072 | +| HP:0020263 | +| HP:0034822 | +| HP:0034851 | +| HP:0034963 | +| HP:6000014 | +| HP:0020274 | +| HP:4000210 | +| HP:0035015 | +| HP:6000264 | +| HP:0020286 | +| HP:6000111 | +| HP:6000084 | +| HP:0034975 | +| HP:0020238 | +| HP:0034869 | +| HP:6000211 | +| HP:5201015 | +| HP:6000258 | +| HP:6000108 | +| HP:6000115 | +| HP:6000274 | +| HP:6000119 | +| HP:0040416 | +| HP:5200423 | +| HP:5200336 | +| HP:5200240 | +| HP:0034978 | +| HP:0034947 | +| HP:0035017 | +| HP:0034881 | +| HP:6000167 | +| HP:5200426 | +| HP:0035014 | +| HP:6000073 | +| HP:6000034 | +| HP:5200214 | +| HP:6000142 | +| HP:0430075 | +| HP:0430061 | +| HP:0034990 | +| HP:0034964 | +| HP:6000032 | +| HP:0034820 | +| HP:6000244 | +| HP:0020280 | +| HP:0430099 | +| HP:0034812 | +| HP:0020230 | +| HP:0034999 | +| HP:0034971 | +| HP:0035023 | +| HP:0020233 | +| HP:0020255 | +| HP:6000196 | +| HP:6000012 | +| HP:5200210 | +| HP:0034920 | +| HP:0034930 | +| HP:0034998 | +| HP:0020295 | +| HP:6000132 | +| HP:0034815 | +| HP:5200291 | +| HP:6000233 | +| HP:6000061 | +| HP:6000123 | +| HP:5200330 | +| HP:0034800 | +| HP:0020294 | +| HP:5200204 | +| HP:0034989 | +| HP:0040409 | +| HP:0020226 | +| HP:5200361 | +| HP:0430071 | +| HP:6000131 | +| HP:0430074 | +| HP:0034992 | +| HP:0020290 | +| HP:6000263 | +| HP:6000101 | +| HP:0020253 | +| HP:0034842 | +| HP:5200420 | +| HP:0020293 | +| HP:5200424 | +| HP:0034828 | +| HP:0034899 | +| HP:0034863 | +| HP:0430060 | +| HP:6000015 | +| HP:5200410 | +| HP:0020234 | +| HP:0035019 | +| HP:4000214 | +| HP:5200288 | +| HP:0430102 | +| HP:0034830 | +| HP:0034845 | +| HP:0034817 | +| HP:0034831 | +| HP:0034915 | +| HP:6000009 | +| HP:0034909 | +| HP:0035005 | +| HP:6000261 | +| HP:0034835 | +| HP:0430101 | +| HP:6000037 | +| HP:6000099 | +| HP:0020229 | +| HP:0034988 | +| HP:6000052 | +| HP:0020271 | +| HP:0430076 | +| HP:5200203 | +| HP:4000190 | +| HP:5200263 | +| HP:0034805 | +| HP:6000026 | +| HP:0430051 | +| HP:6000267 | +| HP:0034932 | +| HP:4000199 | +| HP:0430096 | +| HP:5200221 | +| HP:5200235 | +| HP:6000156 | +| HP:0430035 | +| HP:0035011 | +| HP:0430086 | +| HP:0034941 | +| HP:0020273 | +| HP:0430094 | +| HP:0034839 | +| HP:0034873 | +| HP:5200339 | +| HP:0034885 | +| HP:6000035 | +| HP:0020242 | +| HP:0020285 | +| HP:6000141 | +| HP:5200220 | + +
+ +
+Nodes renamed: 195 + +| ID | Old Label | New Label | +----|----|----| +| HP:0041063 | Chronic decreased circulating IgG2 | Chronic decreased cirulating IgG2 | +| HP:0012434 | Delayed early-childhood social milestone development | Delayed social development | +| HP:0040090 | Abnormal tympanic membrane morphology | Abnormality of the tympanic membrane | +| HP:0032476 | Abnormal circulating vitamin B6 concentration | Abnormal circulating vitamin B6 level | +| HP:0005561 | Abnormal bone marrow cell morphology | Abnormality of bone marrow cell morphology | +| HP:0033511 | Addictive substance use | Drug addiction | +| HP:0034757 | Fetal barbiturate exposure | Maternal barbiturate exposure | +| HP:0006500 | Abnormal lower limb epiphysis morphology | Abnormality of lower limb epiphysis morphology | +| HP:0032501 | Exacerbated by contraceptive medication exposure | Exacerbated by contraceptive medication | +| HP:0002519 | Hypnagogic hallucination | Hypnagogic hallucinations | +| HP:4000163 | Reduced phytanic acid oxidase activity in cultured fibroblasts | Decreased phytanoyl-CoA hydroxylase activity | +| HP:0500161 | Increased circulating carnosine concentration | Increased level of carnosine in blood | +| HP:0025437 | Macrozoospermia | Macrocephalic sperm head | +| HP:0025487 | Abnormal bladder morphology | Abnormality of bladder morphology | +| HP:0000032 | Abnormal male external genitalia morphology | Abnormality of male external genitalia | +| HP:0012503 | Abnormal pituitary gland morphology | Abnormality of the pituitary gland | +| HP:5200126 | Aggression towards caregivers | Aggression toward cargivers | +| HP:0002193 | Pseudobulbar affect | Pseudobulbar behavioral symptoms | +| HP:0011446 | Abnormality of mental function | Abnormality of higher mental function | +| HP:0030680 | Abnormal cardiovascular system morphology | Abnormality of cardiovascular system morphology | +| HP:0410058 | Increased CSF D-threitol concentration | Increased level of D-threitol in CSF | +| HP:0033063 | Shortened sleep phase | Shortened sleep cycle | +| HP:0040106 | Abnormal lateral semicircular canal morphology | Morphological abnormality of the lateral semicircular canal | +| HP:0011278 | Intrapulmonary lobar sequestration | Intrapulmonary sequestration | +| HP:0000798 | Oligozoospermia | Oligospermia | +| HP:0100016 | Abnormal mesentery morphology | Abnormality of mesentery morphology | +| HP:0001442 | Typified by somatic mosaicism | Somatic mosaicism | +| HP:0003234 | Decreased circulating carnitine concentration | Decreased plasma carnitine | +| HP:0007544 | Piebald skin depigmentation | Piebaldism | +| HP:0031472 | Risky behavior | Risk taking | +| HP:0008768 | Abnormal sexual behavior | Inappropriate sexual behavior | +| HP:0034756 | Fetal exposure history | Maternal exposure history | +| HP:0011766 | Abnormal parathyroid morphology | Abnormality of the parathyroid morphology | +| HP:0002585 | Abnormal peritoneum morphology | Abnormality of the peritoneum | +| HP:0033052 | Non-epileptic seizure | Psychogenic non-epileptic seizure | +| HP:0034726 | Elevated circulating beta-mannosidase activity | Elevated beta-mannosidase activity | +| HP:0040126 | Abnormal circulating vitamin B12 concentration | Abnormal vitamin B12 level | +| HP:0030955 | Addictive alcohol use | Alcoholism | +| HP:0011979 | Elevated urinary dopamine level | Elevated urinary dopamine | +| HP:0100889 | Abnormal ductus choledochus morphology | Abnormality of the ductus choledochus | +| HP:0011732 | Abnormal adrenal morphology | Abnormality of adrenal morphology | +| HP:0025361 | Abnormal medullary pyramid morphology | Abnormality of medullary pyramid morphology | +| HP:0025029 | Abnormal enteric neuron morphology | Abnormality of enteric neuron morphology | +| HP:0005262 | Abnormal synovial membrane morphology | Abnormality of the synovia | +| HP:0030935 | Abnormal intestinal smooth muscle morphology | Abnormality of intestinal smooth muscle morphology | +| HP:0006896 | Hypnopompic hallucination | Hypnopompic hallucinations | +| HP:0011111 | Abnormal immune serum protein physiology | Abnormality of immune serum protein physiology | +| HP:0000777 | Abnormal thymus morphology | Abnormality of the thymus | +| HP:0034335 | Inheritance qualifier | Inheritance modifier | +| HP:0100514 | Abnormal circulating vitamin E concentration | Abnormality of vitamin E metabolism | +| HP:0004372 | Reduced consciousness | Reduced consciousness/confusion | +| HP:0000964 | Eczematoid dermatitis | Eczema | +| HP:0030270 | Elevated red cell adenosine deaminase activity | Elevated red cell adenosine deaminase level | +| HP:0002360 | Sleep abnormality | Sleep disturbance | +| HP:0006344 | Abnormal primary molar morphology | Abnormality of primary molar morphology | +| HP:4000132 | Exacerbated by phenytoin exposure | Aggravated by phenytoin | +| HP:0100503 | Decreased circulating vitamin B1 concentration | Low levels of vitamin B1 | +| HP:0011121 | Abnormal skin morphology | Abnormality of skin morphology | +| HP:5200125 | Aggression towards others | Aggression toward others | +| HP:0009600 | Thumb contracture | Contracture of thumb | +| HP:0011497 | Rubeosis iridis | Iris neovascularization | +| HP:0006482 | Abnormal dental morphology | Abnormality of dental morphology | +| HP:0008765 | Auditory hallucination | Auditory hallucinations | +| HP:0034728 | Abnormal circulating alpha-L-fucosidase activity | Abnormal alpha-L-fucosidase activity | +| HP:0003310 | Abnormal odontoid process morphology | Abnormality of the odontoid process | +| HP:0040109 | Abnormal utricle morphology | Morphological abnormality of the utricle | +| HP:0040110 | Abnormal saccule morphology | Morphological abnormality of the saccule | +| HP:0012071 | Abnormal circulating acylcarnitine concentration | Abnormal circulating acetylcarnitine concentration | +| HP:0002761 | Generalized joint hypermobility | Generalized joint laxity | +| HP:0034725 | Abnormal circulating beta-mannosidase activity | Abnormal beta-mannosidase activity | +| HP:0032025 | Reduced circulating alpha-1-antitrypsin concentration | Reduced serum alpha-1-antitrypsin | +| HP:0008376 | Nasal dysarthria | Nasal, dysarthic speech | +| HP:0033513 | Addictive cocaine use | Cocaine addiction | +| HP:0033514 | Addictive amphetamine use | Amphetamine addiction | +| HP:0033512 | Addictive stimulant use | Stimulant addiction | +| HP:0033519 | Addictive methamphetamine use | Methamphetamine addiction | +| HP:0008609 | Abnormal middle ear morphology | Morphological abnormality of the middle ear | +| HP:0025483 | Abnormal circulating thyroglobulin concentration | Abnormal circulating thyroglobulin level | +| HP:0034712 | Decreased circulating alpha-mannosidase activity | Decreased alpha-mannosidase activity | +| HP:0011976 | Elevated urinary catecholamine level | Elevated urinary catecholamines | +| HP:0032940 | Dissociation | Dissociative reaction | +| HP:0045040 | Abnormal circulating lactate dehydrogenase concentration | Abnormal lactate dehydrogenase level | +| HP:0045041 | Reduced circulating lactate dehydrogenase concentration | Reduced lactate dehydrogenase B level | +| HP:0003639 | Elevated urinary epinephrine level | Elevated urinary epinephrine | +| HP:0100505 | Decreased circulating vitamin B5 concentration | Low levels of vitamin B5 | +| HP:0034717 | Swollen achromatic neurons in the cerebral cortex | Cerebral cortex swollen achromatic neurons | +| HP:0006803 | Vivid hallucination | Vivid hallucinations | +| HP:0011472 | Abnormal small intestinal villus morphology | Abnormality of small intestinal villus morphology | +| HP:0003262 | Anti-smooth muscle antibody positivity | Smooth muscle antibody positivity | +| HP:5200127 | Aggression toward non-caregivers | Aggression toward non caregivers | +| HP:0001441 | Abnormality thigh musculature morphology | Abnormality of the musculature of the thigh | +| HP:0100851 | Abnormal emotion | Abnormal emotion/affect behavior | +| HP:0010827 | Abnormal seventh cranial physiology | Abnormality of the seventh cranial nerve | +| HP:0011138 | Abnormal skin adnexa morphology | Abnormality of skin adnexa morphology | +| HP:0011942 | Increased urinary sulfite level | Increased urinary sulfite | +| HP:0025033 | Abnormal digestive system morphology | Abnormality of digestive system morphology | +| HP:0020150 | Elevated urinary uromodulin level | Elevated urinary uromodulin | +| HP:0010527 | Astereognosis | Astereognosia | +| HP:0034729 | Elevated circulating alpha-L-fucosidase activity | Elevated alpha-L-fucosidase activity | +| HP:0500162 | Decreased circulating carnosine concentration | Decreased level of carnosine in blood | +| HP:0000161 | Median cleft upper lip | Median cleft lip | +| HP:0031469 | Low self-esteem | Low self esteem | +| HP:0002991 | Abnormal fibula morphology | Abnormality of fibula morphology | +| HP:0002062 | Abnormal pyramidal tract morphology | Morphological abnormality of the pyramidal tract | +| HP:4000148 | Hepatic artery hyperplasia | Portal artery hyperplasia | +| HP:0033518 | Addictive methylphenidate use | Methylphenidate addiction | +| HP:0040108 | Abnormal anterior semicircular canal morphology | Morphological abnormality of the anterior semicircular canal | +| HP:0001426 | Non-Mendelian inheritance | Multifactorial inheritance | +| HP:0003345 | Elevated urinary norepinephrine level | Elevated urinary norepinephrine | +| HP:0034727 | Reduced circulating alpha-L-fucosidase activity | Reduced alpha-L-fucosidase activity | +| HP:0032365 | Exacerbated by aspirin exposure | Exacerbated by aspirin ingestion | +| HP:0003223 | Decreased circulating methylcobalamin concentration | Decreased methylcobalamin | +| HP:0006477 | Abnormal alveolar ridge morphology | Abnormality of the alveolar ridges | +| HP:0002823 | Abnormal femur morphology | Abnormality of femur morphology | +| HP:4000151 | History of recent contralateral injury | History of recent cotralateral injury | +| HP:0001430 | Abnormal calf musculature morphology | Abnormality of the calf musculature | +| HP:0010569 | Elevated circulating 7-dehydrocholesterol concentration | Elevated 7-dehydrocholesterol | +| HP:0032477 | Elevated circulating vitamin B6 concentration | Elevated circulating vitamin B6 level | +| HP:0033516 | Addictive benzodiazepine use | Benzodiazepine addiction | +| HP:0003145 | Decreased circulating adenosylcobalamin concentration | Decreased adenosylcobalamin | +| HP:0033543 | Addictive nicotine use | Nicotine addiction | +| HP:0005579 | Impaired renal tubular reabsorption of chloride | Impaired renal ltubular reabsorption of chloride | +| HP:0020152 | Distal joint hypermobility | Distal joint laxity | +| HP:0410073 | Increased CSF ribose concentration | Increased level of ribose in CSF | +| HP:0100506 | Decreased circulating vitamin B8 concentration | Low levels of vitamin B8 | +| HP:0034367 | Decreased circulating beta-mannosidase activity | Decreased beta-mannosidase activity | +| HP:0100734 | Abnormal vertebral epiphysis morphology | Abnormality of vertebral epiphysis morphology | +| HP:0004362 | Abnormal enteric ganglion morphology | Abnormality of enteric ganglion morphology | +| HP:0003839 | Abnormal upper limb epiphysis morphology | Abnormality of upper limb epiphysis morphology | +| HP:0025235 | NREM parasomnia | Non-rapid eye movement parasomnia | +| HP:0011390 | Abnormal inner ear morphology | Morphological abnormality of the inner ear | +| HP:0002813 | Abnormal limb bone morphology | Abnormality of limb bone morphology | +| HP:0011376 | Abnormal morphology of the vestibule of the inner ear | Morphological abnormality of the vestibule of the inner ear | +| HP:0011071 | Abnormal permanent molar morphology | Abnormality of permanent molar morphology | +| HP:0011391 | Abnormal inner ear nerve morphology | Morphological abnormality of the nerves of the inner ear | +| HP:0032937 | Recurrent, involuntary, and intrusive distressing memories | Recurrent, involuntary and intrusive distressing memories | +| HP:0003528 | Elevated circulating calcitonin concentration | Elevated calcitonin | +| HP:0032514 | Supernumerary lacrimal punctum | Duplicated lacrimal punctum | +| HP:0011380 | Abnormal semicircular canal morphology | Morphological abnormality of the semicircular canal | +| HP:4000128 | Addictive nitrous oxide use | Nitric oxide addiction | +| HP:0004905 | Reduced circulating vitamin A concentration | Low levels of vitamin A | +| HP:4000147 | Abnormal hepatic artery morphology | Abnormal portal artery morphology | +| HP:0040323 | Eyelid erythema | Erythema of the eyelids | +| HP:0031040 | Round spermatid arrest | Late spermatogenesis maturation arrest | +| HP:0010663 | Abnormal thalamus morphology | Abnormality of thalamus morphology | +| HP:0002367 | Visual hallucination | Visual hallucinations | +| HP:0002920 | Decreased circulating ACTH concentration | Decreased circulating ACTH level | +| HP:0100504 | Decreased circulating vitamin B2 concentration | Low levels of vitamin B2 | +| HP:0100530 | Abnormal circulating calcium-phosphate regulating hormone concentration | Abnormal calcium-phosphate regulating hormone level | +| HP:0030223 | Perseverative thought | Manifestations of perseverative thought or action | +| HP:5200113 | Failure to offer information to initiate social interaction | Offers information | +| HP:0006544 | Extrapulmonary lobar sequestration | Extrapulmonary sequestrum | +| HP:0002992 | Abnormal tibia morphology | Abnormality of tibia morphology | +| HP:0100335 | Non-midline cleft of the upper lip | Non-midline cleft lip | +| HP:4000127 | Exacerbated by sodium channel blocking agent exposure | Aggravated by sodium channel blocking agents | +| HP:0100512 | Decreased circulating vitamin D concentration | Low levels of vitamin D | +| HP:0010790 | Hypoplasia of the Leydig cells | Hyoplasia of the Leydig cells | +| HP:0000056 | Abnormal clitoris morphology | Abnormality of the clitoris | +| HP:0012718 | Abnormal gastrointestinal tract morphology | Morphological abnormality of the gastrointestinal tract | +| HP:0100513 | Decreased circulating vitamin E concentration | Low levels of vitamin E | +| HP:0011992 | Abnormal neutrophil morphology | Abnormality of neutrophil morphology | +| HP:0100852 | Abnormal fear-induced behavior | Abnormal fear/anxiety-related behavior | +| HP:0025028 | Abnormal enteric nervous system morphology | Abnormality of enteric nervous system morphology | +| HP:0032502 | Exacerbated by barbiturate exposure | Exacerbated by barbiturate medication | +| HP:0025445 | Abnormal papillary muscle morphology | Morphological abnormality of the papillary muscles | +| HP:0032525 | Exacerbated by acetylcholinesterase inhibitor exposure | Aggravated by acetylcholinesterase inhibitor | +| HP:0008326 | Reduced circulating vitamin B6 circulating | Reduced circulating vitamin B6 level | +| HP:0002151 | Increased circulating lactate concentration | Increased serum lactate | +| HP:5200068 | Socially inappropriate questioning | Socially innappropriate questionning | +| HP:0002006 | Tessier cleft | Facial cleft | +| HP:0011892 | Decreased circulating vitamin K concentration | Low levels of vitamin K | +| HP:0005186 | Synovial lining hyperplasia | Synovial hypertrophy | +| HP:0100510 | Decreased circulating vitamin C concentration | Low levels of vitamin C | +| HP:0000746 | Delusion | Delusions | +| HP:0012443 | Abnormal brain morphology | Abnormality of brain morphology | +| HP:0025057 | Abnormal olfactory lobe morphology | Abnormality of olfactory lobe morphology | +| HP:0000372 | Abnormal auditory canal morphology | Abnormality of the auditory canal | +| HP:0008372 | Abnormal circulating vitamin A concentration | Abnormality of vitamin A metabolism | +| HP:0011814 | Increased urinary hypoxanthine level | Increased urinary hypoxanthine | +| HP:0034758 | Fetal narcotic exposure | Maternal narcotic exposure | +| HP:0033517 | Addictive heroin use | Heroin addiction | +| HP:0000045 | Abnormal scrotum morphology | Abnormality of the scrotum | +| HP:0040107 | Abnormal posterior semicircular canal morphology | Morphological abnormality of the posterior semicircular canal | +| HP:0410075 | Increased CSF xylitol concentration | Increased level of xylitol in CSF | +| HP:0011751 | Abnormal posterior pituitary morphogenesis | Abnormality of the posterior pituitary | +| HP:0000055 | Abnormal female external genitalia morphology | Abnormality of female external genitalia | +| HP:0025163 | Abnormal optic chiasm morphology | Abnormality of optic chiasm morphology | +| HP:0009380 | Finger aplasia | Aplasia of the fingers | +| HP:0031039 | Spermatocyte maturation arrest | Early spermatogenesis maturation arrest | +| HP:0033515 | Addictive opioid use | Opioid addiction | +| HP:0002492 | Abnormal corticospinal tract morphology | Morphological abnormality of the corticospinal tract | +| HP:0025484 | Increased circulating thyroglobulin concentration | Increased circulating thyroglobulin level | +| HP:0100502 | Decreased circulating vitamin B12 concentration | Vitamin B12 deficiency | +| HP:0410071 | Increased CSF ribitol concentration | Increased level of ribitol in CSF | +| HP:0010524 | Disturbed sensory perception | Agnosia | + +
+ +
+Text definitions changed: 320 + +| Term | Old Text Definition | New Text Definition | +----|----|----| +| Reduced urinary inosine level (HP:0033159) | The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. | Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. | +| Bilateral intracerebral calcifications (HP:0005671) | Deposition of calcium salts on both sides of the cerebrum. | Deposition of calcium salts on both sides of the brain. | +| Diffuse alveolar damage (HP:0033006) | Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation. | Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. | +| Intra-epidermal blistering (HP:0033802) | A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. | A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. | +| Sleep apnea (HP:0010535) | An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. | An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. | +| Decreased CSF erythritol concentration (HP:0410056) | Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. | A decrease in the level of erythritol in the cerebrospinal fluid. | +| Recurrent trauma-related distressing dreams (HP:0032938) | Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events. | Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. | +| Quadruple gallop rhythm (HP:0033114) | A type of gallop rhythm in which both the third and the fourth sounds are present. | A type of gallop rhytm in which both the third and the fourth sounds are present. | +| Abnormality of the tympanic membrane (HP:0040090) | Any structural abnormality of the tympanic membrane | An abnormality of the tympanic membrane | +| Micrographia (HP:0031908) | Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task. | Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. | +| Elevated circulating isovalerylcarnitine concentration (HP:0033447) | Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of O-isovalerylcarnitine in the blood circulation. | +| Milky appearance of bronchoalveolar lavage fluid (HP:0033173) | Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. | Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. | +| Loud snoring (HP:0025372) | Snoring at a particularly loud or abnormally high volume. | Particularly loud snoring, snoring at high volume. | +| Increased circulating band cell count (HP:0032239) | The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2. | An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. | +| Elevated urine glutaconic acid level (HP:0034655) | The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Amount of glutaconic acid in the urine above the upper limit of normal. | +| Abnormal circulating hormone concentration (HP:0003117) | Concentration of a hormone in the blood circulation outside of normal limits. | An abnormal concentration of a hormone in the blood. | +| Joint hypermobility (HP:0001382) | The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. | The ability of a joint to move beyond its normal range of motion. | +| Prominent U wave (HP:0025072) | Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave. | Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. | +| Post-vaccination polio (HP:0020090) | Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise. | Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. | +| Lymph-node hemophagocytosis (HP:0034707) | Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node. | Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages either in a lymph node. | +| Intense psychological distress to cues (HP:0032941) | Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. | Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. | +| Autoamputation of foot (HP:0001868) | The spontaneous detachment of a foot from the body due to long standing pathology. | Spontaneous detachment of a foot from the body. | +| Intrusion symptom (HP:0032936) | Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context. | Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. | +| Drowsiness (HP:0002329) | Abnormal feeling of sleepiness or difficulty staying awake. | Excessive daytime sleepiness. | +| Hypnagogic hallucinations (HP:0002519) | Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep. | Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. | +| Abnormality of speech or vocalization (HP:0002167) | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. | Abnormalities in the sound of a person's speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering. | +| Glomerular proteinuria (HP:4000058) | A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. | A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. \nPMID: 19634399 | +| Elevated circulating glutarylcarnitine concentration (HP:0033442) | Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of glutarylcarnitine in the blood circulation. | +| Mass on thoracic imaging (HP:0033822) | A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. | A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter\n(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. | +| Decreased phytanoyl-CoA hydroxylase activity (HP:4000163) | Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. | Reduced activity of the enzyme phytanoyl-CoA hydroxylase, which plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. | +| Renal tubular polyoma virus inclusions (HP:0032955) | Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. | Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. | +| Increased level of carnosine in blood (HP:0500161) | Concentration of carnosine in the blood circulation above normal limits. | An increased amount of carnosine in the blood. | +| Anterior predominant pachygyria with 5-10 mm cortical thickness (HP:0020188) | Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. | Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. | +| Borderline personality disorder (HP:0012076) | A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness. | A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. | +| Episodic paroxysmal anxiety (HP:0000740) | Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable. | Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. | +| Decreased urinary guanosine level (HP:0033160) | The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. | Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. | +| Parasomnia (HP:0025234) | An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep. | An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. | +| Increased urinary porphobilinogen (HP:0012217) | The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. | Increased concentration of porphobilinogen in the urine. | +| Abnormality of male external genitalia (HP:0000032) | Any structural abnormality of male external genitalia. | An abnormality of male external genitalia. | +| Atoll sign (HP:0032983) | CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. | CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. | +| Increased level of methylsuccinic acid in urine (HP:0410153) | The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of methylsuccinic acid in the urine. | +| Frequent temper tantrums (HP:0025161) | Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process. | Temper tantrums that occur more frequently than usual. | +| Incomplete cleft of the upper lip (HP:0011340) | Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity. | A subtle unilateral cleft of the upper lip, which may appear as a small indentation. | +| Hypersexuality (HP:0030214) | Pathological persistent sexual disinhibiting behavior, directed towards oneself or others. | Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. | +| Pseudobulbar behavioral symptoms (HP:0002193) | Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience. | Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. | +| Coma (HP:0001259) | The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. | Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. | +| Oligodontia (HP:0000677) | The absence of six or more teeth from the normal series by a failure to develop. | The absence of six or more teeth from the normal series by a failure\nto develop. | +| Abnormality of higher mental function (HP:0011446) | Cognitive, psychiatric, or memory anomaly. | Cognitive, psychiatric or memory anomaly. | +| Increased level of D-threitol in CSF (HP:0410058) | The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of D-threitol in the cerebrospinal fluid. | +| Shortened sleep cycle (HP:0033063) | A tendency to sleep fewer hours than usual while feeling well-rested. | A tendency to sleep less hours than usual while feeling well rested. | +| Increased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051) | The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. | +| Polygenic inheritance (HP:0010982) | A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. | A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. | +| Abnormal consumption behavior (HP:0040202) | Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual. | Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual. | +| Sleep onset insomnia (HP:0031354) | Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep. | Difficulty initiating sleep, that is, increased sleep onset latency. | +| Genital warts (HP:0032301) | Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. | Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. | +| Somatic mosaicism (HP:0001442) | Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. | The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. | +| Decreased plasma carnitine (HP:0003234) | Concentration of carnitine in the blood circulation below the lower limit of normal. | A decreased concentration of carnitine in the blood. | +| Obstructive sleep apnea (HP:0002870) | Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. | A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. | +| Tactile hallucination (HP:0033694) | Perception of touch without a tactile stimulus. | The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object. | +| Piebaldism (HP:0007544) | Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. | Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. | +| Elevated urine suberic acid level (HP:0033213) | The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. | +| Risk taking (HP:0031472) | Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger. | Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality or personal danger. | +| Incomplete cleft hard palate (HP:5201004) | Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate. | Cleft hard palate in which the cleft doe not goes through the entire length of the hard palate. | +| Tubulointerstitial fibrosis (HP:0005576) | A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. | A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. | +| Sleep paralysis (HP:0025233) | An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes. | An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. | +| Impulsivity (HP:0100710) | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. | +| Increased urinary fucosylated oligosaccharide (HP:0410350) | An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine. | An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. | +| Psychogenic non-epileptic seizure (HP:0033052) | Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously. | Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. | +| Conspicuously happy disposition (HP:0100024) | An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger. | An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. | +| Kinesiophobia (HP:4000009) | An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury. | An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury. | +| Alcoholism (HP:0030955) | An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. | An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. | +| Elevated urinary dopamine (HP:0011979) | The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of dopamine in the urine. | +| Restricted or repetitive behaviors or interests (HP:0031432) | A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. | A broad range of compulsive behaviors that are repeated including simple motor stereotypies and tics as well as more complex repetitive movements or compulsions. | +| Restrictive behavior (HP:0000723) | Behavior characterized by an abnormal limitation to a few interests and activities. | Behavior characterized by an abnormal limitation to few interests and activities. | +| Reduced social insight (HP:5200021) | A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting. | A lack of awareness or failure to apply social rules in multiple social settings which are simple or intuitive to others in the same social setting. | +| Hypnopompic hallucinations (HP:0006896) | Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake. | Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. | +| Sleep-wake cycle disturbance (HP:0006979) | Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. | Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. | +| Optic ataxia (HP:0031868) | Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected. | Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. | +| Orofacial cleft (HP:0000202) | The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. | +| Oppositional defiant disorder (HP:0010865) | An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. | An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. | +| Terminal insomnia (HP:0031356) | A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time. | A type of insomnia characterized by waking up (too) early in the morning. | +| Abnormal rete ridge morphology (HP:0034767) | Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae. | Abnormal structure of the rete ridges (also known as rete pegs), which are\ndownward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae. | +| Absent bronchoalveolar surfactant-protein C (HP:0032980) | Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region. | Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. | +| Dermoid cyst (HP:0025247) | A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. | A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm. | +| Recent past medical history (HP:4000144) | History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition. | History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition. | +| Hyaloid vascular remnant and retrolental mass (HP:0030744) | A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. | A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. | +| Complete cleft hard palate (HP:5201003) | Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate. | Cleft hard palate in which the cleft goes through the entire length of the hard palate. | +| Eczema (HP:0000964) | Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. | Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. | +| Echolalia (HP:0010529) | The repetition of words or phrases that are odd or used in a non-social manner. These can be words or phrases that the person has heard or invented. | The repetition of words or phrases that are odd or used in a nonsocial manner. These can be words or phrases the person has heard or invented. | +| Abnormal mucociliary clearance (HP:0031602) | An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. | An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating. | +| Pulmonary parenchymal band (HP:0033650) | A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. | A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura\n(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. | +| Emotional hypersensitivity (HP:0041092) | Heightened emotional reactivity to environmental stimuli, including the emotions of others. | Heightened emotional reactivity to environmental stimuli, including emotions of others. | +| Inappropriate crying (HP:0030215) | Uncontrolled episodes of crying occur without any apparent motivating stimuli. | Uncontrolled episodes of crying, without apparent motivating stimuli. | +| Sleep disturbance (HP:0002360) | An abnormal pattern in the quality, quantity, or characteristics of sleep. | An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. | +| Separation insecurity (HP:0031468) | Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy. | Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. | +| Cerebral ventricular adhesions (HP:0100311) | Bands of scar-like tissue that hve formed within a cerebral ventricle. | Bands of scar-like tisssue that hve formed within a cerebral ventricle. | +| Neonatal bilateral symmetric myoclonic seizure (HP:0032836) | Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically. | Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. | +| Renal interstitial necrotizing granulomas (HP:0032642) | An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. | An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. | +| Low levels of vitamin B1 (HP:0100503) | The concentration of vitamin B1 in the blood circulation is below the lower limit of normal. | A reduced concentration of vitamin B1. | +| Bloody bronchoalveolar lavage fluid (HP:0033174) | Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. | Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. | +| Capillary malformation of the lip (HP:0031487) | A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. | A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. | +| Pachygyria with 5-10 mm cortical thickness (HP:0020192) | Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. | Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. | +| Anxiety (HP:0000739) | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. | Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. | +| Iris neovascularization (HP:0011497) | Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. | New growth of vessels on the surface of the iris. | +| Auditory hallucinations (HP:0008765) | Perception of sounds without auditory stimulus. | The false perception of sound. | +| Abnormal alpha-L-fucosidase activity (HP:0034728) | Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal. | Activity of the enzyme alpha-L-fucosidase outside the limits of normal. | +| Abnormality of the odontoid process (HP:0003310) | Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. | Abnormality of the dens of the axis, which is also known as the odontoid process. | +| Hostility (HP:0031473) | Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults. | Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. | +| Atypical behavior (HP:0000708) | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. | An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities. | +| Ballooning hepatocyte degeneration (HP:0033193) | Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. | Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. | +| Abnormal temper tantrums (HP:0025160) | Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. | A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. | +| Reduced response to another's attempt to get direct attention (HP:5200004) | There is a diminished interest in all individuals, including both peers and non-peers. | A reduced interest in all people including both peers and non-peers. | +| Sleep-wake inversion (HP:0031849) | A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night. | A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. | +| Glial remnants anterior to the optic disc (HP:0030743) | Persistence of a posterior remnant of the hyaloid artery located at the optic disc. | Persistance of a posterior remnant of the hyaloid artery located at the optic disc. | +| Elevated urine malonic acid level (HP:0034657) | The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Amount of malonic acid in urine above upper limit of normal. | +| Reduced awareness of convention (HP:5200022) | Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions. | Reduced awareness of expected conventions which are normal and expected for particular social settings or interactions. | +| Hydrophobia (HP:0032505) | The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning. | Pharyngeal spasms provoked by an attempt to drink. | +| Abnormal circulating acetylcarnitine concentration (HP:0012071) | Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. | Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. | +| Agoraphobia (HP:0000756) | A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather. | A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. | +| Generalized joint laxity (HP:0002761) | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. | +| Elevated circulating 4-methyl-2-oxopentanoic acid concentration (HP:0033437) | The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal. | Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. | +| Happy demeanor (HP:0040082) | A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation. | A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. | +| Posterior predominant thick cortex pachygyria (HP:0020189) | Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. | Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. | +| Elevated circulating 3-hydroxypalmitoleylcarnitine concentration (HP:0033464) | Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. | +| Tooth agenesis (HP:0009804) | The absence of one or more teeth from the normal series by a failure to develop | The absence of one or more teeth from the normal series by a failure\nto develop | +| Reduced serum alpha-1-antitrypsin (HP:0032025) | A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. | A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. | +| Elevated circulating octenoylcarnitine concentration (HP:0033440) | Concentration of octenoylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of octenoylcarnitine in the blood circulation. | +| Amphetamine addiction (HP:0033514) | Addiction to amphetamine or dextroamphetamine is a serious concern. | Addiction to amphetamine or dextroamphetamine. | +| Renal tubular adenovirus inclusions (HP:0032954) | Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. | Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. | +| Stimulant addiction (HP:0033512) | Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing. | Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. | +| Elevated circulating acylcarnitine concentration (HP:0045045) | Concentration of acylcarnitine in the blood circulation above the upper limit of normal. | An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. | +| Unhappy demeanor (HP:0031588) | A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events. | A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. | +| Intraalveolar phospholipid accumulation (HP:0006517) | Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. | Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. | +| Progressive massive fibrosis (HP:0033706) | This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. | This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in\nthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. | +| Reduced progressive sperm motility (HP:0034011) | A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. | A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. | +| Irritability (HP:0000737) | A proneness to anger, i.e., a tendency to become easily bothered or annoyed. | A proneness to anger, i.e., a condition of being easily bothered or annoyed. | +| Decreased alpha-mannosidase activity (HP:0034712) | Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation. | Activity of the enzyme alpha-mannosidase below the lower limit of normal. | +| Elevated urinary catecholamines (HP:0011976) | The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of catecholamine in the urine. | +| Dissociative reaction (HP:0032940) | Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality. | A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. | +| Elevated urine fumaric acid level (HP:0034648) | The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Amount of fumaric acid in the urine above normal limits. | +| Strawberry tongue (HP:0031042) | Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. | Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. | +| Reduced attention regulation (HP:5200044) | An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. | Abnormality in one's ability to control their attention toward a specific subject or task. This could include the inability to change attention or hold attention. | +| Reduced lactate dehydrogenase B level (HP:0045041) | Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal. | A decreased or reduced level of the enzyme lactate dehydrogenase in serum. | +| Elevated urinary epinephrine (HP:0003639) | The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of adrenaline in the urine. | +| Reduced short-chain acyl-CoA dehydrogenase activity (HP:0034690) | Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. | Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. | +| Incomplete cleft soft palate (HP:5201006) | Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula. | Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate. | +| Low levels of vitamin B5 (HP:0100505) | The concentration of vitamin B5 in the blood circulation is below the lower limit of normal. | A reduced concentration of vitamin B5. | +| Intellectual disability (HP:0001249) | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. | Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. | +| Paroxysmal drowsiness (HP:0002330) | A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep | Attacks of disabling daytime drowsiness and low alertness. | +| Compulsive behaviors (HP:0000722) | Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal. | Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal | +| Suicidal ideation (HP:0031589) | Frequent thoughts about or preoccupation with killing oneself. | Frequent thinking about or preoccupation with killing oneself. | +| Neonatal bilateral asymmetric myoclonic seizure (HP:0032832) | Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically. | Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. | +| Ethylmalonic aciduria (HP:0003219) | The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of ethylmalonic acid in the urine. | +| Renal interstitial non-necrotizing granulomas (HP:0032643) | Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. | Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. | +| Autoamputation (HP:0001218) | Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. | Spontaneous detachment (amputation) of an appendage from the body. | +| Reduced epidermal keratin 10 protein expression (HP:0034574) | Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. | Lower than normal amount of keratin 10 in the epidermis. | +| Cerebral calcification (HP:0002514) | The presence of calcium deposition within the cerebrum. | The presence of calcium deposition within brain structures. | +| Abnormal emotion/affect behavior (HP:0100851) | Abnormalities in the intensity, frequency, or duration of emotional experiences. | An abnormality of emotional behaviour. | +| Narcolepsy (HP:0030050) | An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis. | An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. | +| Increased urinary sulfite (HP:0011942) | The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal. | Increased concentration of SO3(2-), i.e., sulfite, in the urine. | +| Exercise-triggered malignant hyperthermia (HP:0034732) | Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. | Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. | +| Salt craving (HP:0030083) | Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. | An excessive desire to eat salt (sodium chloride) or salty foods. | +| Elevated urinary uromodulin (HP:0020150) | The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. | +| Cryptozoospermia (HP:0030974) | A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. | A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). | +| Visual agnosia (HP:0030222) | The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory. | Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. | +| Astereognosia (HP:0010527) | Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition. | Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. | +| Central sleep apnea (HP:0010536) | Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. | Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. | +| Increased circulating myelocyte count (HP:0032237) | The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1. | An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. | +| Low self esteem (HP:0031469) | Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself. | Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. | +| Elevated circulating dodecanoylcarnitine concentration (HP:0033444) | Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of dodecanoylcarnitine in the blood circulation. | +| Cleft upper lip (HP:0000204) | A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. | A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. | +| Hypohomocysteinemia (HP:0020222) | A decreased concentration of homocysteine in the blood. | A decreased concentration of homocystine in the blood. | +| 3-hydroxydicarboxylic aciduria (HP:0008160) | The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of 3-hydroxydicarboxylic acid in the urine. | +| Claustrophobia (HP:0025253) | An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia. | An abnormal fear of being in a closed or narrow space with no escape. | +| Anti-class II HLA antibody positivity (HP:0034018) | The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). | The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). | +| Restlessness (HP:0000711) | A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. | A state of unease characterized by diffuse motor activity or motion, subject to limited control, nonproductive, or disorganized behavior. | +| Increased urine succinate level (HP:0033092) | The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of succinate in the urine. | +| Anhedonia (HP:0012154) | Inability to experience pleasurable activities usually found enjoyable. | Inability to experience pleasure activities usually found enjoyable. | +| Emotional insecurity (HP:0033625) | A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening. | A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. | +| Late chronotype (HP:0031874) | A tendency towards waking up very late in the morning and staying up late at night. | A tendency towards rising very late in the morning and going to bed late at night. | +| Elevated circulating guanidinoacetic acid concentration (HP:0034321) | Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal. | An increased concentration of guanidinoacetic acid in the blood circulation. | +| Portal artery hyperplasia (HP:4000148) | Abnormal increase in size of the hepatic arteries. | Abnormal increase in size of the portal arteries of the liver. | +| Abnormal triceps skinfold thickness (HP:0033171) | Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. | Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. | +| Thinking-induced seizure (HP:0020215) | Seizures induced by thinking and decision-making. comment: | Seizures induced by thinking and decision-making.\ncomment: | +| Desquamative interstitial pneumonitis (HP:0005942) | Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. | Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. | +| Depression (HP:0000716) | Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. | Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. | +| Multifactorial inheritance (HP:0001426) | A mode of inheritance that depends on genetic determinants in more than one gene. | A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. | +| Elevated urinary norepinephrine (HP:0003345) | The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of noradrenaline in the urine. | +| Lethargy (HP:0001254) | A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. | A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. | +| Snoring (HP:0025267) | Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. | Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. | +| Skewfoot (HP:0032649) | A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus. | A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. | +| Lymph node abscess (HP:0033136) | An inflamed lymph node that is filled with pus. | An inflammed lymph node that is filled with pus. | +| Liver abscess (HP:0100523) | A circumscribed area of pus or necrotic debris in the liver. | The presence of an abscess of the liver. | +| Neonatal seizure with bilateral symmetric automatism (HP:0032835) | Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically. | Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. | +| Decreased methylcobalamin (HP:0003223) | The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. | Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. | +| Cervical spondylosis (HP:0008480) | Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. | The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. | +| Anti-acetylcholine receptor antibody positivity (HP:0030208) | The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. | The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. | +| Focal autonomic seizure with erection (HP:0032764) | A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. | A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. | +| Personality disorder (HP:0012075) | A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society. | An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. | +| Expiratory air trapping (HP:0032968) | Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. | Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. | +| Agitation (HP:0000713) | A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension. | A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. | +| Elevated 7-dehydrocholesterol (HP:0010569) | Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal. | Elevated 7-dehydrocholesterol levels. | +| Palilalia (HP:0031814) | Repetition of one's own words or phrases is a common occurrence. | Repetition of one's own words or phrases. | +| Elevated circulating tiglylglycine concentration (HP:0034290) | Concentration of tiglylglycine in the blood circulation above the upper limit of normal. | An increased concentration of tiglylglycine in the blood circulation. | +| 2-hydroxyglutarate aciduria (HP:0032278) | The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of 2-hydroxyglutaric acid in the urine. | +| Self-injurious behavior (HP:0100716) | Self-aggression. | Aggression towards oneself. | +| Decreased adenosylcobalamin (HP:0003145) | The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. | Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. | +| Maintenance insomnia (HP:0031355) | Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night. | Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. | +| Cognitive impairment (HP:0100543) | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. | Abnormal cognition with deficits in thinking, reasoning, or remembering. | +| Nicotine addiction (HP:0033543) | Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences. | Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. | +| Impaired renal ltubular reabsorption of chloride (HP:0005579) | Any impairment of reabsorption of chloride by the kidney. | Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. | +| Increased level of ribose in CSF (HP:0410073) | The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of ribose in the cerebrospinal fluid. | +| Low levels of vitamin B8 (HP:0100506) | The concentration of vitamin B8 in the blood circulation is below the lower limit of normal. | A reduced concentration of vitamin B8. | +| Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080) | Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test. | Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. | +| Pediatric onset (HP:0410280) | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. | Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. | +| Elevated circulating decenoylcarnitine concentration (HP:0033439) | Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of decenoylcarnitine in the blood circulation. | +| Panic attack (HP:0025269) | A sudden episode of intense fear in a situation where there is no danger or apparent cause. | A sudden episode of intense fear in a situation in which there is no danger or apparent cause. | +| Persistent viremia (HP:0032248) | Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host. | Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. | +| Non-rapid eye movement parasomnia (HP:0025235) | A parasomnia that occurs during non-rapid eye movement (NREM) sleep. | A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). | +| Elevated circulating hexanoylcarnitine concentration (HP:0033441) | Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of hexanoylcarnitine in the blood circulation. | +| Emotional blunting (HP:0030213) | Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness. | Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. | +| Glutaric aciduria (HP:0003150) | The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased concentration of glutaric acid in the urine. | +| Neonatal multifocal myoclonic seizure (HP:0032816) | Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites. | Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. | +| Increased urine harderoporphyrin level (HP:0033627) | Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. | Increased amount of harderoporphyrin in the urine. | +| Abnormal rapid eye movement sleep (HP:0002494) | Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements. | Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. | +| Tearfulness (HP:0033705) | A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations. | A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control. | +| Diminished motivation (HP:0000745) | A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. | A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. | +| Increased erythrocyte protoporphyrin concentration (HP:0012187) | Concentration of protoporphyrins in erythrocytes above the upper limit of normal. | An increased concentration of protoporphyrins in erythrocytes. | +| Abnormal eating behavior (HP:0100738) | Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption. | Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. | +| Vegetative state (HP:0031358) | The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. | Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). | +| Mania (HP:0100754) | A state of abnormally elevated or irritable mood, arousal, and/or energy levels. | A state of abnormally elevated or irritable mood, arousal, and or energy levels. | +| Ignores peers (HP:4000083) | Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age. | Lack of interest of an individual in peers of comparable age and social groups. For example, a child who is only interested in social interactions with adults rather than children their age. | +| Recurrent, involuntary and intrusive distressing memories (HP:0032937) | After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory. | After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. | +| Duplicated lacrimal punctum (HP:0032514) | A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. | A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. | +| Nitric oxide addiction (HP:4000128) | Addiction to inhaled nitrous oxide gas (N2O) is a growing concern. | Addiction to inhaled nitrous oxide gas (N2O). | +| Low levels of vitamin A (HP:0004905) | Concentration of vitamin A below the lower limit of normal in the blood circulation. | A reduced concentration of vitamin A. | +| Psychosis (HP:0000709) | A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. | A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. | +| Anorexia (HP:0002039) | Anorexia, or the loss of appetite for food, is a medical condition. | A lack or loss of appetite for food (as a medical condition). | +| Pretibial dimple (HP:0032538) | A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. | A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. | +| Abnormal portal artery morphology (HP:4000147) | Any structural anomaly of the hepatic artery or its branches. | Any structural anomaly of the portal artery. | +| Decreased female libido (HP:0030018) | Diminished sexual desire in female. | Dminished sexual desire in female. | +| Late spermatogenesis maturation arrest (HP:0031040) | A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. | A type of maturation arrest in which spermatids are detected without spermatozoa. | +| Visual hallucinations (HP:0002367) | Visual perception in the absence of a visual stimulus. | Visual perceptions that are not elicited by a corresponding stimulus from the outside world. | +| Decreased circulating ACTH level (HP:0002920) | The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. | An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. | +| Low levels of vitamin B2 (HP:0100504) | The concentration of vitamin B2 in the blood circulation is below the lower limit of normal. | A reduced concentration of vitamin B2. | +| Hawkinsinuria (HP:0034457) | The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal. | Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group. | +| Hyperactivity (HP:0000752) | Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. | Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. | +| Increased urinary hexanoic acid level (HP:0034497) | The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased amount of hexanoic acid in the urine. | +| Elevated urinary formiminoglutamic acid level (HP:0034742) | The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Level of formiminoglutamic acid in urine above the upper limit of normal. | +| Abnormality of galactoside metabolism (HP:0004342) | Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose. | Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. | +| Confusional arousal (HP:0025237) | A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings. | A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. | +| Cutaneous wound (HP:0032674) | A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. | A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. | +| Low frustration tolerance (HP:0000744) | The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors. | The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. | +| Elevated urine octenedioic acid level (HP:0034652) | The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Amount of octenedioic acid in the urine above the upper limit of normal. | +| Restless legs (HP:0012452) | Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia. | A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). | +| Finger agnosia (HP:0010525) | The examiner identified the inability to name, move, or touch specific fingers. | An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. | +| Neonatal electro-clinical motor seizure with automatism (HP:0032829) | Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features. | Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. | +| Emotional lability (HP:0000712) | Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. | Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. | +| Negative affectivity (HP:0031467) | A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. | A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. | +| Azoospermia (HP:0000027) | Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. | Absence of any measurable level of sperm in his semen. | +| Posttraumatic stress symptom (HP:0033676) | A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating. | A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). | +| Ground-glass opacification (HP:0025179) | On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. | On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which\nmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. | +| Elevated circulating butyrylcarnitine concentration (HP:0033446) | Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal. | Increased concentration of O-butyrylcarnitine in the blood circulation. | +| Non-midline cleft lip (HP:0100335) | Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. | Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. | +| Elevated circulating glycolate concentration (HP:0025641) | The concentration of glycolate in the blood circulation is above the upper limit of normal. | An abnormally increased concentration of glycolate in the blood circulation. | +| Low levels of vitamin D (HP:0100512) | The concentration of vitamin D in the blood circulation is below the lower limit of normal. | A reduced concentration of Vitamin D. | +| Renal interstitial granulomas (HP:0032641) | Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. | Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. | +| Post-vaccination varicella zoster virus infection (HP:4000166) | Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise. | Infection with live, attenuated varicella-zoster virus following vaccination. This is an extreemely rare event that may indicate immunocompromise. | +| Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589) | Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. | Increased circulating concentration of dehydroepiandrosterone-sulfate, a precursor of testosterone and estrogen. | +| Abnormality of the clitoris (HP:0000056) | Any structural abnormality of the clitoris. | An abnormality of the clitoris. | +| Sleep terror (HP:0030765) | Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep. | Episodes of intense fear, screaming and flailing although affected individuals are still asleep. | +| Disinhibition (HP:0000734) | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. | A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. | +| Somnambulism (HP:0025236) | Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated. | Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. | +| Addictive behavior (HP:0030858) | When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. | When an activity, substance, object, or behavior becomes a major focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. | +| Euphoria (HP:0031844) | Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation. | A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. | +| Abnormal fear/anxiety-related behavior (HP:0100852) | An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations. | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. | +| Elevated circulating homovanillic acid concentration (HP:0033324) | The concentration of homovanillic acid in the blood circulation is above the upper limit of normal. | Increased concentration of homovanillic acid in the blood circulation. | +| Anti-bactericidal/permeability-increasing protein antibody positivity (HP:0033561) | The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. | The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. \nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. | +| Convulsive status epilepticus (HP:0032660) | A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. | A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: \nsource: \nseeAlso: Tonic-clonic status epilepticus | +| Abnormal nonverbal communicative behavior (HP:0000758) | Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. | Abnormalities in eye contact, communicative facial expressions, gesture use, or use of other's body to communicate. These convey a shared meaning within a culture that replace or supplement verbal communication. | +| Lack of response to verbal cues (HP:5200036) | A consistent failure to respond to any verbal cues. | A consistent failure to make any response to verbal cues. | +| Aggressive behavior (HP:0000718) | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). | Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. | +| Alpha-aminoadipic aciduria (HP:0410309) | The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | A increased concentration of alpha-aminoadipic acid in the urine. | +| Complete cleft soft palate (HP:5201005) | Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula. | Cleft soft palate in which the cleft goes through the entire length of the soft palate. | +| Schizophrenia (HP:0100753) | A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. | A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. | +| Blood group (HP:0032223) | Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. | Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. | +| Elevated circulating aconitic acid concentration (HP:0033179) | Concentration of aconitic acid in the blood circulation above the upper limit of normal. | An increased concentration of aconitic acid in the blood circulation. | +| Arcuate intimal/medial venulitis (HP:0033917) | Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. | Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. | +| Severe temper tantrums (HP:0025162) | Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process. | Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. | +| Low levels of vitamin K (HP:0011892) | The concentration of vitamin K in the blood circulation is below the lower limit of normal. | A reduced concentration of vitamin K. | +| Diffuse cerebral calcification (HP:0005849) | Generalized deposition of calcium salts within the cerebrum. | Generalized deposition of calcium salts within the brain. | +| Low levels of vitamin C (HP:0100510) | The concentration of vitamin C in the blood circulation is below the lower limit of normal. | A reduced concentration of Vitamin C. | +| Anterior predominant thick cortex pachygyria (HP:0020191) | Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. | Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. | +| Delusions (HP:0000746) | A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. | A false belief that is held despite evidence to the contrary. | +| Alexithymia (HP:0031433) | A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others. | A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. | +| Abnormality of the auditory canal (HP:0000372) | Any structural abnormality of the external acoustic tube (also known as the auditory canal). | An abnormality of the External acoustic tube (also known as the auditory canal). | +| Abulia (HP:0012671) | Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction. | Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. | +| Hyaline membranes (HP:0033363) | Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. | Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant\nplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. | +| Increased urinary hypoxanthine (HP:0011814) | The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increased level of hypoxanthine in the urine. | +| Sebaceous hyperplasia (HP:0032227) | A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. | A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. | +| Paranoia (HP:0011999) | An inappropriate feeling of being persecuted or being the subject of hostility from others. | A persecutory delusion of supposed hostility of others. | +| Elevated circulating 4-hydroxyphenylacetic acid concentration (HP:0033302) | The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. | An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. | +| Abnormal circulating thromboxane concentration (HP:0030389) | Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. | Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. | +| Increased circulating metamyelocyte count (HP:0032238) | The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1. | An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. | +| Tracheal cartilaginous sleeve (HP:0005347) | Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. | Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.\nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. | +| Increased level of xylitol in CSF (HP:0410075) | The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of xylitol in the cerebrospinal fluid. | +| Focal impaired awareness motor seizure with negative myoclonus (HP:0032858) | A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure. | A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. | +| Delayed ability to roll over (HP:0032989) | Delayed achievement of the ability to roll front to back and back to front. | Delayed ahcievement of the ability to roll front to back and back to front. | +| Abnormality of female external genitalia (HP:0000055) | Any structural abnormality of the female external genitalia. | An abnormality of the female external genitalia. | +| Aplasia of the fingers (HP:0009380) | A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). | Aplasia of one or more fingers. | +| Hallucinations (HP:0000738) | Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. | Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. | +| Elevated circulating 3-methyl-2-oxovaleric acid concentration (HP:0033436) | The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal. | An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. | +| Early spermatogenesis maturation arrest (HP:0031039) | A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. | A type of maturation arrest in which only spermatogonia or spermatocytes are found. | +| Elevated urine 3-hydroxyglutaric level (HP:0034656) | The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | Amount of 3-hydroxyglutaric acid in urine above the upper limit of normal. | +| Neonatal seizure with unilateral automatism (HP:0032834) | Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body. | Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. | +| Increased level of ribitol in CSF (HP:0410071) | The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of ribitol in the cerebral spinal fluid. | +| Impaired social interactions (HP:0000735) | Difficulty interacting with others through emotional, physical, or verbal communication. | Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. | +| Agnosia (HP:0010524) | Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences. | Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. | +| Decreased vigilance (HP:0032044) | A decrease in the ability to maintain sustained attention is characterized by reduced alertness. | A reduction in the ability to maintain sustained attention characterized by reduced alertness. | +| Abnormal cellular composition of bronchoalveolar fluid (HP:0032974) | Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. | Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. | + +
+ +
+Mappings added: 4 + +| Subject | Predicate | Object| +----|----|----| +| Blue nevus (HP:0100814) | oio:hasDbXref | SNOMEDCT_US:40467008 | +| Blue nevus (HP:0100814) | oio:hasDbXref | UMLS:C4020699 | +| Blue nevus (HP:0100814) | oio:hasDbXref | UMLS:C0265985 | +| Blue nevus (HP:0100814) | oio:hasDbXref | MSH:D049328 | + +
+ +
+Synonyms removed: 370 + +| Term | Removed Synonym | +----|----| +| Scissor gait (HP:0012407) | Scissoring gait | +| Scissor gait (HP:0012407) | Scissoring of the lower limbs | +| Scissor gait (HP:0012407) | Scissoring of the lower extremities | +| Early chronotype (HP:0031873) | Advanced sleep onset | +| Late first trimester onset (HP:0034199) | Early foetal onset | +| Reduced sperm motility (HP:0012207) | Asthenozoospermia | +| Sleep apnea (HP:0010535) | Sleep apnea | +| Delayed social development (HP:0012434) | Delayed milestone development | +| Abnormality of the tympanic membrane (HP:0040090) | Abnormality of the tympanic membrane | +| Abnormal circulating vitamin B6 level (HP:0032476) | Abnormal circulating vitamin B6 level | +| Abnormality of bone marrow cell morphology (HP:0005561) | Abnormality of bone marrow cell morphology | +| Joint hypermobility (HP:0001382) | Joint instability | +| Joint hypermobility (HP:0001382) | Lax joints | +| Joint hypermobility (HP:0001382) | Ligamentous laxity | +| Joint hypermobility (HP:0001382) | Joint ligamentous laxity | +| Joint hypermobility (HP:0001382) | Joint laxity | +| Joint hypermobility (HP:0001382) | Joint hyperlaxity | +| Joint hypermobility (HP:0001382) | Joint hyperflexibility | +| Joint hypermobility (HP:0001382) | Loose-jointedness | +| Joint hypermobility (HP:0001382) | Joints move beyond expected range of motion | +| Absence of acoustic reflex (HP:0008529) | Absent stapedius reflexes | +| Drug addiction (HP:0033511) | Drug addiction | +| Drug addiction (HP:0033511) | Addictive drug use | +| Abnormality of lower limb epiphysis morphology (HP:0006500) | Abnormality of lower limb epiphysis morphology | +| Fingerprint bodies (HP:0034508) | Muscle biopsy: fingerprint bodies at periphery of muscle fibres | +| Drowsiness (HP:0002329) | Somnolence | +| Drowsiness (HP:0002329) | Sleepiness | +| Drowsiness (HP:0002329) | Abnormal drowsiness | +| Hypnagogic hallucinations (HP:0002519) | Hallucinations while falling asleep | +| Abnormality of speech or vocalization (HP:0002167) | Abnormal vocalisation | +| Elevated circulating glutarylcarnitine concentration (HP:0033442) | Elevated circulating C5-DC acylcarnitine concentration | +| Decreased phytanoyl-CoA hydroxylase activity (HP:4000163) | Decreased phytanoyl-CoA hydroxylase activity | +| Increased level of carnosine in blood (HP:0500161) | Increased blood carnosine concentration | +| Increased level of carnosine in blood (HP:0500161) | Increased level of carnosine in blood | +| Macrocephalic sperm head (HP:0025437) | Macrocephalic sperm head | +| Posterior corneal stroma punctiform multicolored opacities (HP:0034327) | Punctiform multicoloured opacities in the posterior corneal stroma | +| Borderline personality disorder (HP:0012076) | Emotionally unstable personality disorder | +| Borderline personality disorder (HP:0012076) | EUPD | +| Cortical radial artery intimal mucoid edema (HP:0033960) | Intimal mucoid oedema within interlobular arterial intima/media | +| Persistent human papillomavirus infection (HP:0020114) | Chronic HPV infection | +| Persistent human papillomavirus infection (HP:0020114) | Persistent HPV infection | +| Parasomnia (HP:0025234) | Event that disrupts sleep | +| Abnormality of bladder morphology (HP:0025487) | Abnormality of bladder morphology | +| Abnormality of male external genitalia (HP:0000032) | Abnormality of male external genitalia | +| Abnormality of the pituitary gland (HP:0012503) | Abnormality of the pituitary gland | +| Pseudobulbar behavioral symptoms (HP:0002193) | Pseudobulbar behavioral symptoms | +| Coma (HP:0001259) | Trance | +| Coma (HP:0001259) | Unconsciousness | +| Coma (HP:0001259) | Persistent vegetative state | +| Coma (HP:0001259) | Stupor | +| Abnormality of higher mental function (HP:0011446) | Abnormality of higher mental function | +| Abnormality of cardiovascular system morphology (HP:0030680) | Abnormality of cardiovascular system morphology | +| Atopic dermatitis (HP:0001047) | Neurodermatitis | +| Atopic dermatitis (HP:0001047) | Infantile eczema | +| Atopic dermatitis (HP:0001047) | Allergic eczema | +| Atopic dermatitis (HP:0001047) | Atopic eczema | +| Atopic dermatitis (HP:0001047) | Prurigo Besnier | +| Increased level of D-threitol in CSF (HP:0410058) | Increased level of D-threitol in CSF | +| Morphological abnormality of the lateral semicircular canal (HP:0040106) | Morphological abnormality of the lateral semicircular canal | +| Polygenic inheritance (HP:0010982) | Complex disease | +| Polygenic inheritance (HP:0010982) | Common, complex disease | +| Polygenic inheritance (HP:0010982) | Multifactorial inheritance | +| Sleep onset insomnia (HP:0031354) | Insomnia initial | +| Sleep onset insomnia (HP:0031354) | Sleep onset insomnia | +| Sleep onset insomnia (HP:0031354) | Trouble falling asleep | +| Sleep onset insomnia (HP:0031354) | Insomnia early | +| Sleep onset insomnia (HP:0031354) | Increased sleep latency | +| Intrapulmonary sequestration (HP:0011278) | Intralobar sequestration | +| Intrapulmonary sequestration (HP:0011278) | Intrapulmonary sequestration | +| Oligospermia (HP:0000798) | Oligospermia | +| Abnormality of mesentery morphology (HP:0100016) | Abnormality of mesentery morphology | +| Somatic mosaicism (HP:0001442) | Somatic mutation | +| Somatic mosaicism (HP:0001442) | Somatic mosaicism | +| Somatic mosaicism (HP:0001442) | Autosomal dominant somatic cell mutation | +| Abnormal stool composition (HP:0031685) | Abnormal faecal test result | +| Piebaldism (HP:0007544) | Piebaldism | +| Sleep paralysis (HP:0025233) | Inability to move or speak | +| Maternal exposure history (HP:0034756) | Fetal medication or drug exposure | +| Maternal exposure history (HP:0034756) | Foetal medication or drug exposure | +| Maternal exposure history (HP:0034756) | Maternal exposure history | +| Dyscalculia (HP:0002442) | Acalculia | +| Abnormal fetal central nervous system morphology (HP:0034206) | Abnormal foetal CNS morphology | +| Abnormality of the parathyroid morphology (HP:0011766) | Abnormality of the parathyroid morphology | +| Abnormality of the peritoneum (HP:0002585) | Abnormality of the peritoneum | +| Psychogenic non-epileptic seizure (HP:0033052) | Functional seizure | +| Psychogenic non-epileptic seizure (HP:0033052) | Psychosomatic seizure | +| Psychogenic non-epileptic seizure (HP:0033052) | Psychogenic non-epileptic seizure | +| Respiratory distress (HP:0002098) | Laboured breathing | +| Increased fecal coproporphyrin III:coproporphyrin I ratio (HP:0034471) | Increased faecal CIII:CI ratio | +| Abnormal vitamin B12 level (HP:0040126) | Abnormal vitamin B12 level | +| Alcoholism (HP:0030955) | Alcohol addiction | +| Alcoholism (HP:0030955) | Alcoholism | +| Abnormality of the ductus choledochus (HP:0100889) | Abnormality of the ductus choledochus | +| Foramen ovale aneurysm (HP:0025730) | Foetal atrial septal dilatation | +| Abnormality of adrenal morphology (HP:0011732) | Abnormality of adrenal morphology | +| Abnormality of medullary pyramid morphology (HP:0025361) | Abnormality of medullary pyramid morphology | +| Abnormality of enteric neuron morphology (HP:0025029) | Abnormality of enteric neuron morphology | +| Elevated CSF angiotensin-converting enzyme concentration (HP:0034406) | Angiotensin-converting enzyme high in CSF | +| Peripheral pulmonary artery stenosis (HP:0004969) | Occlusion of small pulmonary arteries | +| Abnormality of intestinal smooth muscle morphology (HP:0030935) | Abnormality of intestinal smooth muscle morphology | +| Hypnopompic hallucinations (HP:0006896) | Hallucinations while awaking | +| Abnormality of immune serum protein physiology (HP:0011111) | Abnormality of immune serum protein physiology | +| Sleep-wake cycle disturbance (HP:0006979) | Sleep phase disturbance | +| Sleep-wake cycle disturbance (HP:0006979) | Internal-clock disorders | +| Sleep-wake cycle disturbance (HP:0006979) | Sleep-wake cycle disorders | +| Oppositional defiant disorder (HP:0010865) | ODD | +| Terminal insomnia (HP:0031356) | Early morning awakening | +| Cytoplasmic antineutrophil antibody positivity (HP:0032230) | Cytoplasmic antineutrophil cytoplasmic antibodies | +| Cytoplasmic antineutrophil antibody positivity (HP:0032230) | C-ANCA antibodies | +| Inheritance modifier (HP:0034335) | Inheritance modifier | +| Elevated circulating propionylcarnitine concentration (HP:0033443) | Elevated C3 acylcarnitine | +| Bipolar affective disorder (HP:0007302) | Manic depressive | +| Bipolar affective disorder (HP:0007302) | Bipolar depression | +| Fetal bowel dilatation (HP:4000140) | Prenatal ultrasound: bowel loops dilated | +| Emotional hypersensitivity (HP:0041092) | Emotional reactivity | +| Ankyloblepharon (HP:0009755) | Fused eyelid | +| Sleep disturbance (HP:0002360) | Sleep disturbance | +| Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) | Anti-thyrotropin receptor antibody | +| Abnormality of primary molar morphology (HP:0006344) | Abnormality of primary molar morphology | +| Low levels of vitamin B1 (HP:0100503) | Low levels of vitamin B1 | +| Abnormality of skin morphology (HP:0011121) | Abnormality of skin morphology | +| Medullary peritubular capillary lumen organized thrombi (HP:0033871) | Organised thrombi within the medullary peritubular capillary lumen | +| Absent fetal nasal bone (HP:0025706) | Absence of foetal nasal bone | +| Iris neovascularization (HP:0011497) | Iris neovascularization | +| Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level (HP:0034565) | Elevated urinary AICA-riboside level | +| Abnormality of dental morphology (HP:0006482) | Abnormality of dental morphology | +| Vertical supranuclear gaze palsy (HP:0000511) | VSGP | +| Abnormality of the odontoid process (HP:0003310) | Abnormality of the odontoid process | +| Morphological abnormality of the utricle (HP:0040109) | Morphological abnormality of the utricle | +| Abnormal fetal morphology (HP:0034058) | Structural foetal anomaly | +| Hostility (HP:0031473) | Hostile | +| Atypical behavior (HP:0000708) | Behavioural/psychiatric abnormality | +| Neoplasm of the oral cavity (HP:0100649) | Mouth tumour | +| Morphological abnormality of the saccule (HP:0040110) | Morphological abnormality of the saccule | +| Sleep-wake inversion (HP:0031849) | Reversed sleep-wake cycle | +| Sleep-wake inversion (HP:0031849) | Sleep rhythm inversion | +| Rhabdoid tumor of the kidney (HP:0034402) | Malignant rhabdoid tumour of the kidney | +| Generalized joint laxity (HP:0002761) | Generalized joint laxity | +| Arcuate vein lumen organized thrombi (HP:0033878) | Organised thrombi within arcuate vein lumen | +| Reduced serum alpha-1-antitrypsin (HP:0032025) | Reduced serum alpha-1-antitrypsin | +| Absence of stomach bubble on fetal sonography (HP:0010963) | Non-visualisation of the foetal stomach | +| Elevated circulating octenoylcarnitine concentration (HP:0033440) | Elevated circulating C8:1 acylcarnitine concentration | +| Cocaine addiction (HP:0033513) | Cocaine addiction | +| Amphetamine addiction (HP:0033514) | Amphetamine addiction | +| Stimulant addiction (HP:0033512) | Stimulant addiction | +| Entrapment neuropathy of the ulnar nerve at elbow (HP:0012186) | Cubital tunnel syndrome | +| Aortic root aneurysm (HP:0002616) | Enlarged aortic root | +| Methamphetamine addiction (HP:0033519) | Methamphetamine addiction | +| Abnormal circulating thyroglobulin level (HP:0025483) | Abnormal circulating thyroglobulin level | +| Hypoglycemic coma (HP:0001325) | Hypoglycemic coma | +| Irritability (HP:0000737) | Irritable mood | +| Color vision defect (HP:0000551) | Disturbed colour vision | +| Nevus of Ota (HP:0009920) | Nevus of Ito | +| Nevus of Ota (HP:0009920) | Mongolian spot | +| Dissociative reaction (HP:0032940) | Dissociative reaction | +| Abnormal lactate dehydrogenase level (HP:0045040) | Abnormal circulating LDH concentration | +| Abnormal lactate dehydrogenase level (HP:0045040) | Abnormal lactate dehydrogenase level | +| Abnormal lactate dehydrogenase level (HP:0045040) | AbnormalLDH level | +| Abnormal lactate dehydrogenase level (HP:0045040) | Abnormal LDH level | +| Low levels of vitamin B5 (HP:0100505) | Low levels of vitamin B5 | +| Cerebral cortex swollen achromatic neurons (HP:0034717) | Cerebral cortex swollen achromatic neurons | +| Paroxysmal drowsiness (HP:0002330) | A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep | +| Suicidal ideation (HP:0031589) | Suicidal perseveration | +| Delirium (HP:0031258) | Altered consciousness or cognition | +| Abnormality of small intestinal villus morphology (HP:0011472) | Abnormality of small intestinal villus morphology | +| Smooth muscle antibody positivity (HP:0003262) | Smooth muscle antibody positivity | +| Anti-thyroid peroxidase antibody positivity (HP:0025379) | Antimicrosomal antibodies | +| Anti-thyroid peroxidase antibody positivity (HP:0025379) | Antimicrosomal antibody positivity | +| Abnormality of the musculature of the thigh (HP:0001441) | Abnormality of the musculature of the thigh | +| Increased level of N-acetylneuraminic acid in urine (HP:0410156) | Increased urinary sialic acid | +| Broad lateral eyebrow (HP:0007933) | Lateral eyebrow flare | +| Fetal intraventricular hemorrhage with periventricular hemorrhage (HP:0034219) | Grade IV foetal intracranial haemorrhage | +| Aortic aneurysm (HP:0004942) | Enlarged aorta | +| Abnormal emotion/affect behavior (HP:0100851) | Abnormal mood/emotion/affect | +| Abnormal emotion/affect behavior (HP:0100851) | Abnormal mood/emotion/affect/thought | +| Abnormal emotion/affect behavior (HP:0100851) | Emotion dysregulation | +| Abnormal emotion/affect behavior (HP:0100851) | Abnormal emotion processing | +| Decreased fetal movement (HP:0001558) | Dminished foetal movement | +| Abnormality of skin adnexa morphology (HP:0011138) | Abnormality of skin adnexa morphology | +| Bone marrow hypocellularity (HP:0005528) | Myeloid hypoplasia | +| Abnormality of digestive system morphology (HP:0025033) | Abnormality of digestive system morphology | +| Abnormal lung lobation (HP:0002101) | Abnormal pulmonary lobation | +| Anterior pituitary hypoplasia (HP:0010627) | Small anterior pituitary lobe | +| Decreased level of carnosine in blood (HP:0500162) | Decreased level of carnosine in blood | +| Elevated circulating palmitoylcarnitine concentration (HP:0033382) | Elevated circulating 16:0 acylcarnitine concentration | +| Low self esteem (HP:0031469) | Worthlessness | +| Megakaryocytopenia (HP:0005548) | Megakaryocytes decreased im bone marrow | +| Abnormality of fibula morphology (HP:0002991) | Abnormality of fibula morphology | +| Hypohomocysteinemia (HP:0020222) | Lower blood homocysteine | +| Elevated circulating linoleylcarnitine concentration (HP:0033484) | Elevated circulating C18:2 acylcarnitine concentration | +| Arcuate vein intimal mucoid edema (HP:0033880) | Intimal mucoid oedema within arcuate veins | +| Low back pain (HP:0003419) | Lumbago | +| Stillbirth (HP:0003826) | Late foetal death | +| Stillbirth (HP:0003826) | Foetal demise | +| Bone marrow hypercellularity (HP:0031020) | Myeloid hyperplasia | +| Arcuate artery lumen organized thrombi (HP:0033899) | Organised thrombi within arcuate arterial lumen | +| Anhedonia (HP:0012154) | Anhedonic | +| Increased circulating lactate dehydrogenase concentration (HP:0025435) | Increased circulating LDH concentration | +| Abnormality of the outer ear (HP:0000356) | External ear malformation | +| Elevated stool chloride content (HP:0034470) | Elevations in faecal chloride concentration | +| Late chronotype (HP:0031874) | Delayed sleep onset | +| Elevated circulating guanidinoacetic acid concentration (HP:0034321) | Increased circulating guanidinoacetic acid concentration | +| Morphological abnormality of the pyramidal tract (HP:0002062) | Morphological abnormality of the pyramidal tract | +| Methylphenidate addiction (HP:0033518) | Methylphenidate addiction | +| Morphological abnormality of the anterior semicircular canal (HP:0040108) | Morphological abnormality of the anterior semicircular canal | +| Hypercystinemia (HP:0500151) | Increased blood cystine concentration | +| Truncus arteriosus (HP:0001660) | Persistent truncus arteriosus | +| Depression (HP:0000716) | Depressive episode | +| Abnormal fetal physiology (HP:0034059) | Functional foetal anomaly | +| Lethargy (HP:0001254) | Inactivity | +| Lethargy (HP:0001254) | Languor | +| Lethargy (HP:0001254) | Torpor | +| Lethargy (HP:0001254) | Inaction | +| Lethargy (HP:0001254) | Slowness | +| Lethargy (HP:0001254) | Dullness | +| Decreased methylcobalamin (HP:0003223) | Decreased methylcobalamin | +| Abnormality of the alveolar ridges (HP:0006477) | Abnormality of the alveolar ridges | +| Abnormality of femur morphology (HP:0002823) | Abnormality of femur morphology | +| Agitation (HP:0000713) | Psychomotor agitation | +| Fetal intraventricular hemorrhage without ventriculomegaly (HP:0034214) | Grade II foetal intracranial haemorrhage | +| Blood parasite (HP:0034523) | Parasitemia | +| Pituitary prolactin cell adenoma (HP:0006767) | Prolactinoma | +| Elevated circulating vitamin B6 level (HP:0032477) | Elevated circulating vitamin B6 level | +| Episodic hypersomnia (HP:0007200) | Recurrent hypersomnia | +| Episodic hypersomnia (HP:0007200) | Idiopathic hypersomnia | +| Ochronosis (HP:0030764) | Ochronotic arthritis | +| Apathy (HP:0000741) | Lack of feeling, emotion, interest, motivation, initiation | +| Apathy (HP:0000741) | State of indifference | +| Maintenance insomnia (HP:0031355) | Insomnia middle | +| Maintenance insomnia (HP:0031355) | Middle insomnia | +| Dysgraphia (HP:0010526) | Agraphia | +| Pulmonary sequestration (HP:0100632) | Bronchopulmonary sequestration | +| Arrhinencephaly (HP:0002139) | Arhinencephaly | +| Nicotine addiction (HP:0033543) | Addictive tobacco use | +| Reduced brain N-acetyl aspartate level by MRS (HP:0012708) | MR Spectroscopy: N-acetylaspartate low in brain | +| Distal joint laxity (HP:0020152) | Distal joint laxity | +| Interlobular vein intimal mucoid edema (HP:0033965) | Intimal mucoid oedema within interlobular veins | +| Increased level of ribose in CSF (HP:0410073) | Increased level of ribose in CSF | +| Low levels of vitamin B8 (HP:0100506) | Low levels of vitamin B8 | +| Carnitinuria (HP:0020077) | Carnitine high in urine | +| Echogenic fetal bowel (HP:0010943) | Hyperechogenic fetal bowel | +| Echogenic fetal bowel (HP:0010943) | Hyperechogenic foetal bowel | +| Echogenic fetal bowel (HP:0010943) | Prenatal ultrasound: hyperechogenic bowel | +| Sharp (HP:0025281) | Stabbing pain | +| Abnormality of vertebral epiphysis morphology (HP:0100734) | Abnormality of vertebral epiphysis morphology | +| Abnormality of enteric ganglion morphology (HP:0004362) | Abnormality of enteric ganglion morphology | +| Elevated circulating decenoylcarnitine concentration (HP:0033439) | Elevated circulating C10:1 acylcarnitine concentration | +| Short attention span (HP:0000736) | High distractibility | +| Short attention span (HP:0000736) | Easy distractibility | +| Abnormality of upper limb epiphysis morphology (HP:0003839) | Abnormality of upper limb epiphysis morphology | +| Hilar lymph node enlargement (HP:0034388) | Hilar adenopathy | +| Non-rapid eye movement parasomnia (HP:0025235) | Non-rapid eye movement parasomnia | +| Non-rapid eye movement parasomnia (HP:0025235) | Disturbance in NREM | +| Elevated circulating hexanoylcarnitine concentration (HP:0033441) | Elevated circulating C6:0 acylcarnitine concentration | +| Morphological abnormality of the inner ear (HP:0011390) | Morphological abnormality of the inner ear | +| Abnormality of limb bone morphology (HP:0002813) | Abnormality of limb bone morphology | +| Hip dysplasia (HP:0001385) | DDH | +| Hip dysplasia (HP:0001385) | Developmental dysplasia of the hip | +| Tearfulness (HP:0033705) | Crying episodes | +| Reduced beta-hexosaminidase activity (HP:0033978) | Hexosaminidase B low in blood | +| Morphological abnormality of the vestibule of the inner ear (HP:0011376) | Morphological abnormality of the vestibule of the inner ear | +| Abnormality of permanent molar morphology (HP:0011071) | Abnormality of permanent molar morphology | +| Morphological abnormality of the nerves of the inner ear (HP:0011391) | Morphological abnormality of the nerves of the inner ear | +| Diminished motivation (HP:0000745) | Diminished energy | +| Vegetative state (HP:0031358) | Unresponsive wakefulness | +| Mania (HP:0100754) | Hypomanic | +| Mania (HP:0100754) | Hypomania | +| Duplicated lacrimal punctum (HP:0032514) | Supernumerary punctum | +| Duplicated lacrimal punctum (HP:0032514) | Double punctum | +| Duplicated lacrimal punctum (HP:0032514) | Accessory puncta | +| Duplicated lacrimal punctum (HP:0032514) | Punctum reduplication | +| Morphological abnormality of the semicircular canal (HP:0011380) | Morphological abnormality of the semicircular canal | +| Nitric oxide addiction (HP:4000128) | Nitrous oxide addiction | +| Fetal intraventricular hemorrhage with ventriculomegaly (HP:0034218) | Grade III foetal intracranial haemorrhage | +| Low levels of vitamin A (HP:0004905) | Low levels of vitamin A | +| Anorexia (HP:0002039) | Deliberately not eating | +| Anorexia (HP:0002039) | Refusing to eat | +| Anorexia (HP:0002039) | Obsessive dieting | +| Anal pain (HP:0500005) | Proctalgia | +| Anal pain (HP:0500005) | Anorectal pain | +| Miscarriage (HP:0005268) | Early foetal demise | +| Paroxysmal lethargy (HP:0011973) | Intermittent lack of energy | +| Erythema of the eyelids (HP:0040323) | Erythema of the eyelids | +| Erythema of the eyelids (HP:0040323) | Red eyelid | +| Late spermatogenesis maturation arrest (HP:0031040) | Late spermatogenesis maturation arrest | +| Abnormality of thalamus morphology (HP:0010663) | Abnormality of thalamus morphology | +| Low levels of vitamin B2 (HP:0100504) | Low levels of vitamin B2 | +| Hyperactivity (HP:0000752) | Hyperkinetic disorder | +| Confusional arousal (HP:0025237) | Disoriented | +| Confusional arousal (HP:0025237) | Slow speech or confused thinking upon waking | +| Confusional arousal (HP:0025237) | Unresponsive | +| Restless legs (HP:0012452) | Tachyathetosis | +| Restless legs (HP:0012452) | Ekbom syndrome | +| Ectopic posterior pituitary (HP:0011755) | Ectopic posterior pituitary lobe | +| Hypersomnia (HP:0100786) | Excessive sleep | +| Extrapulmonary sequestrum (HP:0006544) | Extrapulmonary sequestrum | +| Extrapulmonary sequestrum (HP:0006544) | Extralobar sequestration | +| Negative affectivity (HP:0031467) | Neuroticism | +| Negative affectivity (HP:0031467) | Negative affect | +| Elevated circulating stearoylcarnitine concentration (HP:0033381) | Elevated circulating C18:0 acylcarnitine concentration | +| Abnormality of tibia morphology (HP:0002992) | Abnormality of tibia morphology | +| Fetal intra-abdominal umbilical vein varix (HP:0025690) | Foetal umbilical vein dilatation | +| Lack of insight (HP:0000757) | Anosognosia | +| Low levels of vitamin D (HP:0100512) | Low levels of vitamin D | +| Abnormality of the clitoris (HP:0000056) | Abnormality of the clitoris | +| Multinucleated erythroblast (HP:0034278) | Binucleated erythroblast | +| Multinucleated erythroblast (HP:0034278) | Double-nucleated erythroblast | +| Disinhibition (HP:0000734) | Impulse control disorders | +| Disinhibition (HP:0000734) | Self-control | +| Morphological abnormality of the gastrointestinal tract (HP:0012718) | Morphological abnormality of the gastrointestinal tract | +| Low levels of vitamin E (HP:0100513) | Low levels of vitamin E | +| Abnormality of neutrophil morphology (HP:0011992) | Abnormality of neutrophil morphology | +| Abnormal repetitive mannerisms (HP:0000733) | Repetitive behaviour Stereotypic behaviour | +| Abnormal repetitive mannerisms (HP:0000733) | Stereotypical motor behaviour | +| Abnormal repetitive mannerisms (HP:0000733) | repetitive behaviour | +| Euphoria (HP:0031844) | Euphoric mood | +| Abnormal fear/anxiety-related behavior (HP:0100852) | Abnormal fear/anxiety-related behavior | +| Abnormal fear/anxiety-related behavior (HP:0100852) | Abnormal fear-induced behaviour | +| Cortical radial artery intraluminal organized thrombi (HP:0033951) | Organised thrombi within interlobular arterial lumen | +| Abnormality of enteric nervous system morphology (HP:0025028) | Abnormality of enteric nervous system morphology | +| Abnormal nonverbal communicative behavior (HP:0000758) | Abnormal nonverbal communicative behaviour | +| Hyperosthenuria (HP:0033359) | Elevated urine osmolality | +| Hyperosthenuria (HP:0033359) | Elevated urine osmolarity | +| Morphological abnormality of the papillary muscles (HP:0025445) | Morphological abnormality of the papillary muscles | +| Reduced circulating vitamin B6 level (HP:0008326) | Reduced circulating vitamin B6 level | +| Abnormal cortical gyration (HP:0002536) | Gyral disorganisation | +| Increased serum lactate (HP:0002151) | Increased serum lactate | +| Dysphoria (HP:0033838) | Dysphoric mood | +| Abnormal form of the vertebral bodies (HP:0003312) | Abnormal vertebral bodies | +| Pachygyria (HP:0001302) | Macrogyria | +| Arcuate intimal/medial venulitis (HP:0033917) | Medial/intimal arcuate venulitis | +| Low levels of vitamin K (HP:0011892) | Low levels of vitamin K | +| Synovial hypertrophy (HP:0005186) | Synovial hypertrophy | +| Synovial hypertrophy (HP:0005186) | Synovial hyperplasia | +| Elevated circulating oleylcarnitine concentration (HP:0033462) | Elevated circulating C18:1 acylcarnitine concentration | +| Low levels of vitamin C (HP:0100510) | Low levels of vitamin C | +| Abnormality of brain morphology (HP:0012443) | Abnormality of brain morphology | +| Transient psychotic episodes (HP:0006932) | Brief reactive psychosis | +| Transient psychotic episodes (HP:0006932) | Brief psychotic episodes | +| Abnormality of olfactory lobe morphology (HP:0025057) | Abnormality of olfactory lobe morphology | +| Abnormality of the auditory canal (HP:0000372) | Abnormality of the auditory canal | +| Intrarenal abscess (HP:0032620) | Renal parenchymal abscess | +| Angulated muscle fibers (HP:0034045) | Angular muscle fibres | +| Substantia nigra dopaminergic neuron loss (HP:0034694) | Melanin reduced in substantia nigra | +| Maternal narcotic exposure (HP:0034758) | Maternal narcotic exposure | +| Heroin addiction (HP:0033517) | Heroin addiction | +| Abnormality of the scrotum (HP:0000045) | Abnormality of the scrotum | +| Morphological abnormality of the posterior semicircular canal (HP:0040107) | Morphological abnormality of the posterior semicircular canal | +| Increased level of xylitol in CSF (HP:0410075) | Increased level of xylitol in CSF | +| Fetal subependymal hemorrhage (HP:0034209) | Grade I foetal intracranial haemorrhage | +| Abnormality of the posterior pituitary (HP:0011751) | Abnormality of the posterior pituitary | +| Reduced hair sulfur content (HP:0034425) | Hair sulphur content reduced | +| Abnormality of female external genitalia (HP:0000055) | Abnormality of female external genitalia | +| Abnormality of optic chiasm morphology (HP:0025163) | Abnormality of optic chiasm morphology | +| Aplasia of the fingers (HP:0009380) | Aplasia of the fingers | +| Aplasia of the fingers (HP:0009380) | Hand oligodactyly | +| Aplasia of the fingers (HP:0009380) | Hand has less than 5 fingers | +| Early spermatogenesis maturation arrest (HP:0031039) | Spermatocyte arrest | +| Early spermatogenesis maturation arrest (HP:0031039) | Spermatocyte meiotic arrest | +| Opioid addiction (HP:0033515) | Opioid addiction | +| Morphological abnormality of the corticospinal tract (HP:0002492) | Morphological abnormality of the corticospinal tract | +| Increased circulating thyroglobulin level (HP:0025484) | Increased circulating thyroglobulin level | +| Agnosia (HP:0010524) | Agnosia | +| Decreased vigilance (HP:0032044) | Decreased alertness | +| Loss of consciousness (HP:0007185) | Fainting | +| Premature closure of the ductus arteriosus (HP:0025675) | Idiopathic constriction of the foetal ductus arteriosus | +| Premature closure of the ductus arteriosus (HP:0025675) | Foetal PDA narrowing-closure | +| Premature closure of the ductus arteriosus (HP:0025675) | Foetal arterial duct narrowing-closure | +| Premature closure of the ductus arteriosus (HP:0025675) | Foetal ductus arteriosus narrowing-closure | +| Premature closure of the ductus arteriosus (HP:0025675) | Foetal PAD narrowing-closure | + +
+ +
+Synonyms added: 26 + +| Term | New Synonym | Predicate | +----|----|----| +| Reduced impulse control (HP:5200045) | Impulse control disorders | oio:hasExactSynonym | +| Increased level of carnosine in blood (HP:0500161) | Increased blood carnosine concenrtation | oio:hasExactSynonym | +| Hypersexuality (HP:0030214) | Sex addiction | oio:hasExactSynonym | +| Intestinal polyp (HP:0005266) | Intestinal polyps | oio:hasRelatedSynonym | +| Abnormality of vitamin E metabolism (HP:0100514) | Abnormality of vitamin E metabolism | oio:hasExactSynonym | +| Abnormal vertebral morphology (HP:0003468) | Abnormal vertebral bodies | oio:hasRelatedSynonym | +| Phantosmia (HP:0033693) | Olfactory hallucination | oio:hasExactSynonym | +| Cerebral calcification (HP:0002514) | Intracerebral calcifications | oio:hasExactSynonym | +| Cerebral calcification (HP:0002514) | Intracranial calcifications | oio:hasExactSynonym | +| Cerebral calcification (HP:0002514) | Brain calcification | oio:hasExactSynonym | +| Cerebral calcification (HP:0002514) | Intracranial calcification | oio:hasExactSynonym | +| Hypoplasia of the ovary (HP:0008724) | Hypoplastic ovary | oio:hasRelatedSynonym | +| Hypoplasia of the vagina (HP:0008726) | Hypoplastic vagina | oio:hasRelatedSynonym | +| Hypercystinemia (HP:0500151) | Increased blood cystine concentraions | oio:hasExactSynonym | +| Truncus arteriosus (HP:0001660) | Persistant truncus arteriosus | oio:hasRelatedSynonym | +| Lower limb muscle weakness (HP:0007340) | Leg weakness | oio:hasRelatedSynonym | +| Self-injurious behavior (HP:0100716) | Self-injurious behaviors | oio:hasRelatedSynonym | +| Self-injurious behavior (HP:0100716) | Self-injurious behaviours | oio:hasRelatedSynonym | +| Absent toe (HP:0010760) | Absent toes | oio:hasRelatedSynonym | +| Hypoplasia of the fallopian tube (HP:0008697) | Rudimentary fallopian tubes | oio:hasRelatedSynonym | +| Blue nevus (HP:0100814) | Mongolian spot | oio:hasExactSynonym | +| Hyperhistidinemia (HP:0010906) | Histidinemia | oio:hasExactSynonym | +| Restless legs (HP:0012452) | Restless legs syndrome | oio:hasRelatedSynonym | +| Pterygium (HP:0001059) | Pterygia | oio:hasRelatedSynonym | +| Spondyloepiphyseal dysplasia (HP:0002655) | Spondyloepiphyseal dysplasia tarda | oio:hasExactSynonym | +| Intrarenal abscess (HP:0032620) | Renal parenchymal abcess | oio:hasExactSynonym | + +
+ +
+Synonym predicates changed: 11 + +| Term | Old Predicate | New Predicate | Synonym | +----|----|----|----| +| Intestinal polyp (HP:0005266) | oio:hasExactSynonym | oio:hasRelatedSynonym | Intestinal polyps | +| Hypoplasia of the ovary (HP:0008724) | oio:hasExactSynonym | oio:hasRelatedSynonym | Hypoplastic ovary | +| Hypoplasia of the vagina (HP:0008726) | oio:hasExactSynonym | oio:hasRelatedSynonym | Hypoplastic vagina | +| Lower limb muscle weakness (HP:0007340) | oio:hasExactSynonym | oio:hasRelatedSynonym | Leg weakness | +| Self-injurious behavior (HP:0100716) | oio:hasExactSynonym | oio:hasRelatedSynonym | Self-injurious behaviours | +| Self-injurious behavior (HP:0100716) | oio:hasExactSynonym | oio:hasRelatedSynonym | Self-injurious behaviors | +| Absent toe (HP:0010760) | oio:hasExactSynonym | oio:hasRelatedSynonym | Absent toes | +| Hypoplasia of the fallopian tube (HP:0008697) | oio:hasExactSynonym | oio:hasRelatedSynonym | Rudimentary fallopian tubes | +| Hyperhistidinemia (HP:0010906) | oio:hasRelatedSynonym | oio:hasExactSynonym | Histidinemia | +| Restless legs (HP:0012452) | oio:hasExactSynonym | oio:hasRelatedSynonym | Restless legs syndrome | +| Pterygium (HP:0001059) | oio:hasExactSynonym | oio:hasRelatedSynonym | Pterygia | + +
+ +
+Relationships removed: 1086 + +| Subject| Predicate| Object| +----|----|----| +| HP:6000017 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| HP:6000273 | subClassOf (rdfs:subClassOf) | HP:0035017 | +| HP:6000098 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000126 | subClassOf (rdfs:subClassOf) | Abnormal urine carboxylic acid level (HP:0031980) | +| HP:6000169 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| HP:5200207 | subClassOf (rdfs:subClassOf) | HP:5200205 | +| HP:0040426 | subClassOf (rdfs:subClassOf) | HP:0040425 | +| HP:6000232 | subClassOf (rdfs:subClassOf) | Abnormal spleen morphology (HP:0025408) | +| HP:6000089 | subClassOf (rdfs:subClassOf) | Abnormal skeletal morphology (HP:0011842) | +| HP:0430057 | subClassOf (rdfs:subClassOf) | HP:0430061 | +| HP:5200270 | subClassOf (rdfs:subClassOf) | HP:5200242 | +| Reduced urinary inosine level (HP:0033159) | subClassOf (rdfs:subClassOf) | HP:0040421 | +| HP:0040411 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| HP:6000021 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| Anal atresia (HP:0002023) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| HP:6000000 | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:5200294 | subClassOf (rdfs:subClassOf) | Inappropriate sexual behavior (HP:0008768) | +| HP:5200294 | subClassOf (rdfs:subClassOf) | Non-rapid eye movement parasomnia (HP:0025235) | +| Abnormal sperm motility (HP:0012206) | subClassOf (rdfs:subClassOf) | HP:0034809 | +| HP:6000242 | subClassOf (rdfs:subClassOf) | Complement deficiency (HP:0004431) | +| HP:6000083 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0430031 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:0034993 | subClassOf (rdfs:subClassOf) | Hip contracture (HP:0003273) | +| HP:5200342 | subClassOf (rdfs:subClassOf) | Pica (HP:0011856) | +| HP:5200342 | subClassOf (rdfs:subClassOf) | Self-biting (HP:0012169) | +| Sleep apnea (HP:0010535) | subClassOf (rdfs:subClassOf) | HP:5200283 | +| HP:0430070 | subClassOf (rdfs:subClassOf) | Abnormal placenta morphology (HP:0100767) | +| HP:0034818 | subClassOf (rdfs:subClassOf) | Oligospermia (HP:0000798) | +| Anti-thyroglobulin antibody positivity (HP:0032069) | subClassOf (rdfs:subClassOf) | HP:0430050 | +| HP:0040422 | subClassOf (rdfs:subClassOf) | HP:0040421 | +| HP:0020277 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:5200289 | subClassOf (rdfs:subClassOf) | Reduced consciousness/confusion (HP:0004372) | +| HP:0034819 | subClassOf (rdfs:subClassOf) | Abnormality iris morphology (HP:0000525) | +| HP:5200205 | subClassOf (rdfs:subClassOf) | HP:5200204 | +| HP:6000177 | subClassOf (rdfs:subClassOf) | Abnormal uvula morphology (HP:0000172) | +| HP:6000058 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| HP:6000139 | subClassOf (rdfs:subClassOf) | Abnormality of the nail (HP:0001597) | +| HP:0034857 | subClassOf (rdfs:subClassOf) | Inheritance modifier (HP:0034335) | +| Elevated circulating isovalerylcarnitine concentration (HP:0033447) | subClassOf (rdfs:subClassOf) | HP:0035019 | +| HP:0040420 | subClassOf (rdfs:subClassOf) | HP:0040416 | +| HP:6000238 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:6000019 | subClassOf (rdfs:subClassOf) | Medication history (HP:4000112) | +| HP:5200231 | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Anal fissure (HP:0012390) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| HP:6000028 | subClassOf (rdfs:subClassOf) | HP:5200329 | +| HP:6000136 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| HP:6000223 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| HP:0020263 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| HP:6000258 | subClassOf (rdfs:subClassOf) | Abnormality of folate metabolism (HP:0012335) | +| HP:5200423 | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| HP:5200356 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:5200356 | subClassOf (rdfs:subClassOf) | HP:5200296 | +| HP:5200356 | subClassOf (rdfs:subClassOf) | Abnormal rapid eye movement sleep (HP:0002494) | +| HP:0020253 | subClassOf (rdfs:subClassOf) | HP:0020251 | +| HP:5200420 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| Positive fecal Clostridium botulinum test (HP:0034476) | subClassOf (rdfs:subClassOf) | HP:0034866 | +| Intrusion symptom (HP:0032936) | subClassOf (rdfs:subClassOf) | HP:5200230 | +| HP:0020227 | subClassOf (rdfs:subClassOf) | Abnormal gallbladder morphology (HP:0012437) | +| HP:5200328 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| Abnormal circulating creatine concentration (HP:0012113) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:6000190 | subClassOf (rdfs:subClassOf) | Abnormal male internal genitalia morphology (HP:0000022) | +| Hypnagogic hallucinations (HP:0002519) | subClassOf (rdfs:subClassOf) | HP:5200296 | +| Abnormality of speech or vocalization (HP:0002167) | subClassOf (rdfs:subClassOf) | Abnormal communication (HP:0034434) | +| HP:6000091 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| HP:6000044 | subClassOf (rdfs:subClassOf) | Abnormal temporal bone morphology (HP:0009911) | +| HP:6000067 | subClassOf (rdfs:subClassOf) | Abnormal myocardium morphology (HP:0001637) | +| Elevated circulating glutarylcarnitine concentration (HP:0033442) | subClassOf (rdfs:subClassOf) | HP:0035019 | +| Decreased phytanoyl-CoA hydroxylase activity (HP:4000163) | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0035021 | subClassOf (rdfs:subClassOf) | HP:0035018 | +| HP:4000200 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0034854 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| Abnormal thyroid-stimulating hormone level (HP:0031097) | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| HP:0430069 | subClassOf (rdfs:subClassOf) | HP:0430067 | +| HP:0020228 | subClassOf (rdfs:subClassOf) | All (HP:0000001) | +| HP:0034856 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:5200298 | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| HP:0034922 | subClassOf (rdfs:subClassOf) | Abnormal peripheral nervous system morphology (HP:0000759) | +| HP:6000121 | subClassOf (rdfs:subClassOf) | Elevated urinary carboxylic acid (HP:0040156) | +| HP:6000128 | subClassOf (rdfs:subClassOf) | Abnormal urinary pyrimidine level (HP:0033162) | +| HP:0034821 | subClassOf (rdfs:subClassOf) | HP:0034819 | +| HP:0034848 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| Abnormal circulating collagen degradation product concentration (HP:0033386) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0034810 | subClassOf (rdfs:subClassOf) | Abnormal sperm head morphology (HP:0012865) | +| HP:5200202 | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:0035024 | subClassOf (rdfs:subClassOf) | HP:0035016 | +| HP:6000104 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:0034966 | subClassOf (rdfs:subClassOf) | Abnormality of the thymus (HP:0000777) | +| HP:0020296 | subClassOf (rdfs:subClassOf) | HP:0020233 | +| HP:0034973 | subClassOf (rdfs:subClassOf) | Abnormal medulla oblongata morphology (HP:0011441) | +| HP:6000260 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| HP:0040408 | subClassOf (rdfs:subClassOf) | Ameliorated by (HP:0025254) | +| Decreased urinary guanosine level (HP:0033160) | subClassOf (rdfs:subClassOf) | HP:0040423 | +| Onychotillomania (HP:0032509) | subClassOf (rdfs:subClassOf) | Nail-biting (HP:0012170) | +| HP:6000002 | subClassOf (rdfs:subClassOf) | Abnormal olecranon morphology (HP:0004032) | +| HP:6000002 | subClassOf (rdfs:subClassOf) | Fractured elbow (HP:0041219) | +| HP:4000189 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0034969 | subClassOf (rdfs:subClassOf) | Abnormal diaphysis morphology (HP:0000940) | +| Postaxial oligodactyly (HP:0006210) | subClassOf (rdfs:subClassOf) | Aplasia of the fingers (HP:0009380) | +| Finger joint hypermobility (HP:0006094) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:6000086 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000264 | subClassOf (rdfs:subClassOf) | Abnormal fetal cardiovascular physiology (HP:0034190) | +| HP:0034925 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| HP:6000118 | subClassOf (rdfs:subClassOf) | Abnormal urinary pyrimidine level (HP:0033162) | +| HP:0430090 | subClassOf (rdfs:subClassOf) | HP:0430083 | +| HP:0034991 | subClassOf (rdfs:subClassOf) | Shoulder contracture (HP:0034665) | +| HP:5200265 | subClassOf (rdfs:subClassOf) | HP:5200235 | +| HP:5200265 | subClassOf (rdfs:subClassOf) | Abnormal prosody (HP:0031434) | +| HP:6000055 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:0430085 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| Anal stenosis (HP:0002025) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| HP:0034823 | subClassOf (rdfs:subClassOf) | HP:0034822 | +| Violent behavior (HP:0008760) | subClassOf (rdfs:subClassOf) | Aggressive behavior (HP:0000718) | +| HP:5200427 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:0034794 | subClassOf (rdfs:subClassOf) | Abnormal sperm head morphology (HP:0012865) | +| HP:0034811 | subClassOf (rdfs:subClassOf) | Abnormal sperm tail morphology (HP:0012868) | +| HP:6000010 | subClassOf (rdfs:subClassOf) | Linear hyperpigmentation (HP:0007546) | +| HP:0020257 | subClassOf (rdfs:subClassOf) | HP:0020251 | +| HP:6000114 | subClassOf (rdfs:subClassOf) | Abnormal urinary pyrimidine level (HP:0033162) | +| Femoral arterial calcification (HP:0031303) | subClassOf (rdfs:subClassOf) | HP:0035012 | +| Hypersexuality (HP:0030214) | subClassOf (rdfs:subClassOf) | Addictive behavior (HP:0030858) | +| Selective mutism (HP:5200001) | subClassOf (rdfs:subClassOf) | Mutism (HP:0002300) | +| HP:0035020 | subClassOf (rdfs:subClassOf) | HP:0035018 | +| HP:0034978 | subClassOf (rdfs:subClassOf) | HP:0034977 | +| HP:6000073 | subClassOf (rdfs:subClassOf) | Abnormal renal morphology (HP:0012210) | +| HP:0430061 | subClassOf (rdfs:subClassOf) | HP:0430051 | +| HP:6000131 | subClassOf (rdfs:subClassOf) | Abnormal nasolacrimal system morphology (HP:0000614) | +| HP:0430060 | subClassOf (rdfs:subClassOf) | HP:0430051 | +| HP:4000214 | subClassOf (rdfs:subClassOf) | Abnormal breath sound (HP:0030829) | +| HP:0020242 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:5200299 | subClassOf (rdfs:subClassOf) | Abnormal rapid eye movement sleep (HP:0002494) | +| HP:5200299 | subClassOf (rdfs:subClassOf) | Parasomnia (HP:0025234) | +| HP:6000221 | subClassOf (rdfs:subClassOf) | Abnormal stool composition (HP:0031685) | +| HP:0034962 | subClassOf (rdfs:subClassOf) | Aggravated by exposure to medication (HP:4000176) | +| Shortened sleep cycle (HP:0033063) | subClassOf (rdfs:subClassOf) | Sleep-wake cycle disturbance (HP:0006979) | +| HP:0430087 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:0034923 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| Abnormal circulating organic amino compound concentration (HP:0033405) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| Abnormal consumption behavior (HP:0040202) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Choroid plexus calcification (HP:0006960) | subClassOf (rdfs:subClassOf) | HP:0430048 | +| HP:5200307 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:4000207 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:5200353 | subClassOf (rdfs:subClassOf) | HP:5200297 | +| HP:5200353 | subClassOf (rdfs:subClassOf) | Sleep paralysis (HP:0025233) | +| HP:6000082 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0430092 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| Shyness (HP:0100962) | subClassOf (rdfs:subClassOf) | Abnormal interest in others (HP:5200020) | +| HP:0034887 | subClassOf (rdfs:subClassOf) | Increased urine proteinogenic amino acid derivative level (HP:0033097) | +| HP:0034897 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| HP:6000275 | subClassOf (rdfs:subClassOf) | Elevated urinary carboxylic acid (HP:0040156) | +| HP:0034801 | subClassOf (rdfs:subClassOf) | Abnormal epidermal morphology (HP:0011124) | +| Somatic mosaicism (HP:0001442) | subClassOf (rdfs:subClassOf) | Inheritance modifier (HP:0034335) | +| HP:6000225 | subClassOf (rdfs:subClassOf) | Abnormal second heart sound (HP:0031661) | +| HP:0035022 | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| HP:0034906 | subClassOf (rdfs:subClassOf) | Porphyrinuria (HP:0010473) | +| Tactile hallucination (HP:0033694) | subClassOf (rdfs:subClassOf) | HP:5200214 | +| HP:6000237 | subClassOf (rdfs:subClassOf) | HP:0035016 | +| HP:0430032 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:0020281 | subClassOf (rdfs:subClassOf) | HP:0020282 | +| Elevated circulating 3-hydroxylinoleylcarnitine concentration (HP:0033461) | subClassOf (rdfs:subClassOf) | HP:0035020 | +| HP:5200233 | subClassOf (rdfs:subClassOf) | Anxiety (HP:0000739) | +| HP:0430048 | subClassOf (rdfs:subClassOf) | Ectopic calcification (HP:0010766) | +| HP:6000155 | subClassOf (rdfs:subClassOf) | Abnormal neuron morphology (HP:0012757) | +| Recurrent aphthous stomatitis (HP:0011107) | subClassOf (rdfs:subClassOf) | Erosion of oral mucosa (HP:0031446) | +| HP:6000046 | subClassOf (rdfs:subClassOf) | Abnormal pulse (HP:0032552) | +| Inappropriate sexual behavior (HP:0008768) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| HP:0035032 | subClassOf (rdfs:subClassOf) | Reduced circulating acylcarnitine concentration (HP:0033445) | +| Sleep paralysis (HP:0025233) | subClassOf (rdfs:subClassOf) | HP:5200300 | +| Sleep paralysis (HP:0025233) | subClassOf (rdfs:subClassOf) | HP:5200293 | +| HP:0020292 | subClassOf (rdfs:subClassOf) | HP:0020289 | +| HP:5200315 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| HP:0034807 | subClassOf (rdfs:subClassOf) | Dyspnea (HP:0002094) | +| HP:0034806 | subClassOf (rdfs:subClassOf) | Abnormal vaginal physiology (HP:0034268) | +| Maternal exposure history (HP:0034756) | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| Anal canal neoplasm (HP:0030437) | subClassOf (rdfs:subClassOf) | Anal neoplasm (HP:0032186) | +| HP:0034891 | subClassOf (rdfs:subClassOf) | HP:0034889 | +| HP:6000003 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000040 | subClassOf (rdfs:subClassOf) | Pain characteristic (HP:0025280) | +| HP:0034977 | subClassOf (rdfs:subClassOf) | Abnormality of the hypothalamus-pituitary axis (HP:0000864) | +| HP:0034935 | subClassOf (rdfs:subClassOf) | HP:0034934 | +| HP:5200287 | subClassOf (rdfs:subClassOf) | HP:5200299 | +| HP:0020248 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| HP:6000005 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:0034997 | subClassOf (rdfs:subClassOf) | Abnormal peripheral nervous system morphology (HP:0000759) | +| HP:0034961 | subClassOf (rdfs:subClassOf) | Abnormal gallbladder morphology (HP:0012437) | +| HP:0035027 | subClassOf (rdfs:subClassOf) | HP:0035026 | +| HP:6000103 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:0034916 | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| HP:0034916 | subClassOf (rdfs:subClassOf) | Abnormality of digestive system physiology (HP:0025032) | +| HP:6000076 | subClassOf (rdfs:subClassOf) | Abnormal renal vascular morphology (HP:0033835) | +| HP:6000064 | subClassOf (rdfs:subClassOf) | Constitutional symptom (HP:0025142) | +| HP:6000048 | subClassOf (rdfs:subClassOf) | Pain characteristic (HP:0025280) | +| HP:6000239 | subClassOf (rdfs:subClassOf) | Abnormality of serum cytokine level (HP:0011112) | +| HP:0034926 | subClassOf (rdfs:subClassOf) | Abnormal small intestine morphology (HP:0002244) | +| HP:0040407 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:0035004 | subClassOf (rdfs:subClassOf) | Abnormal epidermal protein expression (HP:0034573) | +| Abnormal circulating nitrogen compound concentration (HP:0004364) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:6000182 | subClassOf (rdfs:subClassOf) | Abnormal ear physiology (HP:0031704) | +| Conspicuously happy disposition (HP:0100024) | subClassOf (rdfs:subClassOf) | Happy demeanor (HP:0040082) | +| HP:5200283 | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| HP:4000210 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0035015 | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| HP:6000211 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:0430075 | subClassOf (rdfs:subClassOf) | Abnormal breast physiology (HP:0031094) | +| HP:0034820 | subClassOf (rdfs:subClassOf) | HP:0034819 | +| HP:6000244 | subClassOf (rdfs:subClassOf) | Abnormal circulating thyroglobulin level (HP:0025483) | +| HP:0034998 | subClassOf (rdfs:subClassOf) | HP:0035012 | +| HP:6000012 | subClassOf (rdfs:subClassOf) | Abnormal mediastinum morphology (HP:0045026) | +| HP:5200330 | subClassOf (rdfs:subClassOf) | Self-injurious behavior (HP:0100716) | +| HP:6000061 | subClassOf (rdfs:subClassOf) | Abnormal vaginal physiology (HP:0034268) | +| HP:6000015 | subClassOf (rdfs:subClassOf) | Abnormal ear physiology (HP:0031704) | +| HP:5200410 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| HP:0020270 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:0034862 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:0040417 | subClassOf (rdfs:subClassOf) | HP:0040416 | +| HP:6000158 | subClassOf (rdfs:subClassOf) | Abnormality of lysosomal metabolism (HP:0004356) | +| HP:0430064 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| Kinesiophobia (HP:4000009) | subClassOf (rdfs:subClassOf) | HP:5200232 | +| Alcoholism (HP:0030955) | subClassOf (rdfs:subClassOf) | HP:5200329 | +| Restricted or repetitive behaviors or interests (HP:0031432) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| HP:6000268 | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) | +| Restrictive behavior (HP:0000723) | subClassOf (rdfs:subClassOf) | Restricted or repetitive behaviors or interests (HP:0031432) | +| HP:6000077 | subClassOf (rdfs:subClassOf) | Abnormal pancreas morphology (HP:0012090) | +| HP:6000042 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| HP:6000160 | subClassOf (rdfs:subClassOf) | Abnormal spleen morphology (HP:0025408) | +| HP:6000192 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| Abnormal hepatic iron concentration (HP:0040134) | subClassOf (rdfs:subClassOf) | Abnormal liver metabolite concentration (HP:0034644) | +| HP:0035002 | subClassOf (rdfs:subClassOf) | HP:0035004 | +| HP:6000236 | subClassOf (rdfs:subClassOf) | Abnormal homeostasis (HP:0012337) | +| HP:0020272 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:0040404 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:6000066 | subClassOf (rdfs:subClassOf) | Triggered by (HP:0025204) | +| HP:6000153 | subClassOf (rdfs:subClassOf) | Abnormal parotid gland morphology (HP:0000197) | +| HP:6000173 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| Aphthous ulcer (HP:0032154) | subClassOf (rdfs:subClassOf) | Erosion of oral mucosa (HP:0031446) | +| HP:0034799 | subClassOf (rdfs:subClassOf) | Hemophagocytosis (HP:0012156) | +| HP:5200232 | subClassOf (rdfs:subClassOf) | HP:5200230 | +| HP:6000020 | subClassOf (rdfs:subClassOf) | HP:0430037 | +| HP:0034883 | subClassOf (rdfs:subClassOf) | Abnormal liver physiology (HP:0031865) | +| Reduced social insight (HP:5200021) | subClassOf (rdfs:subClassOf) | HP:5200401 | +| HP:0034879 | subClassOf (rdfs:subClassOf) | Abnormal ovarian morphology (HP:0031065) | +| Hypnopompic hallucinations (HP:0006896) | subClassOf (rdfs:subClassOf) | HP:5200297 | +| HP:0020245 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:6000224 | subClassOf (rdfs:subClassOf) | Abnormality of prenatal development or birth (HP:0001197) | +| HP:6000138 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| HP:0034864 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Perianal abscess (HP:0009789) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| Optic ataxia (HP:0031868) | subClassOf (rdfs:subClassOf) | Ataxia (HP:0001251) | +| Orofacial cleft (HP:0000202) | subClassOf (rdfs:subClassOf) | HP:5201015 | +| HP:4000213 | subClassOf (rdfs:subClassOf) | Abnormal circulating hyaluronic acid concentration (HP:0031210) | +| HP:6000220 | subClassOf (rdfs:subClassOf) | Abnormal pharynx morphology (HP:0033151) | +| Abnormal tongue morphology (HP:0030809) | subClassOf (rdfs:subClassOf) | Abnormal oral cavity morphology (HP:0000163) | +| HP:5200409 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:6000093 | subClassOf (rdfs:subClassOf) | Medication history (HP:4000112) | +| HP:0034866 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:0034866 | subClassOf (rdfs:subClassOf) | Abnormal stool composition (HP:0031685) | +| HP:0034911 | subClassOf (rdfs:subClassOf) | Decreased circulating apolipoprotein concentration (HP:0033459) | +| Oppositional defiant disorder (HP:0010865) | subClassOf (rdfs:subClassOf) | Aggressive behavior (HP:0000718) | +| HP:6000074 | subClassOf (rdfs:subClassOf) | Neoplasm of the pharynx (HP:0100638) | +| Abnormal erythrocyte enzyme level (HP:0030272) | subClassOf (rdfs:subClassOf) | Abnormal enzyme concentration or activity (HP:0034684) | +| HP:6000075 | subClassOf (rdfs:subClassOf) | Abnormal thrombosis (HP:0001977) | +| HP:5200300 | subClassOf (rdfs:subClassOf) | Parasomnia (HP:0025234) | +| HP:6000105 | subClassOf (rdfs:subClassOf) | Abnormal vagina morphology (HP:0000142) | +| HP:5200209 | subClassOf (rdfs:subClassOf) | HP:5200205 | +| HP:0034937 | subClassOf (rdfs:subClassOf) | Abnormal circulating cholesterol concentration (HP:0003107) | +| HP:6000166 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:6000070 | subClassOf (rdfs:subClassOf) | Granuloma (HP:0032252) | +| HP:0020235 | subClassOf (rdfs:subClassOf) | HP:0020234 | +| HP:6000209 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:0034960 | subClassOf (rdfs:subClassOf) | Dicarboxylic aciduria (HP:0003215) | +| HP:0034896 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| HP:0430084 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:6000250 | subClassOf (rdfs:subClassOf) | Abnormal gastric mucosa morphology (HP:0004295) | +| HP:6000135 | subClassOf (rdfs:subClassOf) | Abnormal male reproductive system physiology (HP:0012874) | +| HP:0034958 | subClassOf (rdfs:subClassOf) | Abnormal sperm mid-piece morphology (HP:0012867) | +| HP:6000272 | subClassOf (rdfs:subClassOf) | HP:0035017 | +| Abnormality of the tongue (HP:0000157) | subClassOf (rdfs:subClassOf) | Abnormality of the mouth (HP:0000153) | +| HP:6000262 | subClassOf (rdfs:subClassOf) | Abnormal vitreous humor morphology (HP:0004327) | +| HP:0430100 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:6000167 | subClassOf (rdfs:subClassOf) | Past obstetric history (HP:0032467) | +| HP:0020233 | subClassOf (rdfs:subClassOf) | HP:0020229 | +| HP:0430076 | subClassOf (rdfs:subClassOf) | HP:0430051 | +| Congenital hip dislocation (HP:0001374) | subClassOf (rdfs:subClassOf) | Hip dysplasia (HP:0001385) | +| HP:6000267 | subClassOf (rdfs:subClassOf) | Abnormal circulating proteinogenic amino acid derivative concentration (HP:0033108) | +| HP:5200220 | subClassOf (rdfs:subClassOf) | Reduced frequency of facial expressions (HP:4000075) | +| HP:5200220 | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| HP:0034934 | subClassOf (rdfs:subClassOf) | Abnormal circulating cholesterol concentration (HP:0003107) | +| HP:6000054 | subClassOf (rdfs:subClassOf) | Past obstetric history (HP:0032467) | +| HP:5200418 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:6000207 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:6000094 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000226 | subClassOf (rdfs:subClassOf) | Abnormal aortic physiology (HP:0030964) | +| Abnormal circulating carbohydrate concentration (HP:0011013) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0034913 | subClassOf (rdfs:subClassOf) | Abnormal sperm head morphology (HP:0012865) | +| Elevated circulating propionylcarnitine concentration (HP:0033443) | subClassOf (rdfs:subClassOf) | HP:0035015 | +| Bipolar affective disorder (HP:0007302) | subClassOf (rdfs:subClassOf) | HP:5200275 | +| HP:0034849 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| Elevated dermal desmosine content (HP:0025083) | subClassOf (rdfs:subClassOf) | HP:0034924 | +| Echolalia (HP:0010529) | subClassOf (rdfs:subClassOf) | Idiosyncratic language (HP:4000074) | +| HP:6000145 | subClassOf (rdfs:subClassOf) | Abnormal heart morphology (HP:0001627) | +| HP:0034829 | subClassOf (rdfs:subClassOf) | Abnormality of adrenal morphology (HP:0011732) | +| HP:0034944 | subClassOf (rdfs:subClassOf) | Abnormal epidermis stratum granulosum morphology (HP:0033806) | +| HP:0430093 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:6000217 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0020241 | subClassOf (rdfs:subClassOf) | HP:0020239 | +| HP:5200275 | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Emotional hypersensitivity (HP:0041092) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Pituitary calcification (HP:0010513) | subClassOf (rdfs:subClassOf) | HP:0430048 | +| HP:0034956 | subClassOf (rdfs:subClassOf) | Aggravated by exposure to medication (HP:4000176) | +| Inappropriate crying (HP:0030215) | subClassOf (rdfs:subClassOf) | HP:5200261 | +| HP:6000214 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0034968 | subClassOf (rdfs:subClassOf) | Abnormality of bladder morphology (HP:0025487) | +| Loose association (HP:5200006) | subClassOf (rdfs:subClassOf) | HP:5200235 | +| Personality changes (HP:0000751) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Elevated red cell adenosine deaminase level (HP:0030270) | subClassOf (rdfs:subClassOf) | HP:4000209 | +| HP:0034982 | subClassOf (rdfs:subClassOf) | Abnormal exteroceptive sensation (HP:0033747) | +| HP:6000230 | subClassOf (rdfs:subClassOf) | Abnormal muscle tissue metabolite concentration (HP:0034370) | +| Malabsorption (HP:0002024) | subClassOf (rdfs:subClassOf) | Abnormality of digestive system physiology (HP:0025032) | +| HP:0034874 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| Sleep disturbance (HP:0002360) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| HP:0020264 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| Separation insecurity (HP:0031468) | subClassOf (rdfs:subClassOf) | Anxiety (HP:0000739) | +| HP:4000211 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) | subClassOf (rdfs:subClassOf) | HP:0430050 | +| HP:6000254 | subClassOf (rdfs:subClassOf) | Abnormal renal tubule morphology (HP:0000091) | +| HP:6000112 | subClassOf (rdfs:subClassOf) | Abnormality of the palmar creases (HP:0010490) | +| HP:6000057 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| HP:6000198 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| Copper accumulation in liver (HP:0025321) | subClassOf (rdfs:subClassOf) | Abnormal liver metabolite concentration (HP:0034644) | +| Hyperextensibility at elbow (HP:0010485) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:5200363 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| Unilateral oligodactyly (HP:0006230) | subClassOf (rdfs:subClassOf) | Aplasia of the fingers (HP:0009380) | +| HP:0034813 | subClassOf (rdfs:subClassOf) | Abnormal spermatogenesis (HP:0008669) | +| HP:6000271 | subClassOf (rdfs:subClassOf) | Abnormal circulating collagen degradation product concentration (HP:0033386) | +| HP:0034841 | subClassOf (rdfs:subClassOf) | Granulomatosis (HP:0002955) | +| HP:0034892 | subClassOf (rdfs:subClassOf) | HP:0034889 | +| HP:0035030 | subClassOf (rdfs:subClassOf) | Abnormal circulating carnitine concentration (HP:0010967) | +| HP:0034942 | subClassOf (rdfs:subClassOf) | Vaginal neoplasm (HP:0100650) | +| HP:0430068 | subClassOf (rdfs:subClassOf) | HP:0430067 | +| Anxiety (HP:0000739) | subClassOf (rdfs:subClassOf) | HP:5200230 | +| HP:0430036 | subClassOf (rdfs:subClassOf) | Fractured elbow (HP:0041219) | +| Abnormal glial cell morphology (HP:0100705) | subClassOf (rdfs:subClassOf) | Abnormal nervous system morphology (HP:0012639) | +| HP:6000092 | subClassOf (rdfs:subClassOf) | Medication history (HP:4000112) | +| Inappropriate laughter (HP:0000748) | subClassOf (rdfs:subClassOf) | Social disinhibition (HP:5200029) | +| HP:0034851 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| Glue ear (HP:0040262) | subClassOf (rdfs:subClassOf) | Otitis media (HP:0000388) | +| HP:0020230 | subClassOf (rdfs:subClassOf) | HP:0020229 | +| HP:0034989 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| HP:0034831 | subClassOf (rdfs:subClassOf) | Hamartoma (HP:0010566) | +| HP:6000261 | subClassOf (rdfs:subClassOf) | Abnormal immunoglobulin level (HP:0010701) | +| HP:0430035 | subClassOf (rdfs:subClassOf) | Abnormality of lower limb joint (HP:0100491) | +| HP:6000156 | subClassOf (rdfs:subClassOf) | Abnormal pancreas morphology (HP:0012090) | +| HP:5200421 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| Hostility (HP:0031473) | subClassOf (rdfs:subClassOf) | Irritability (HP:0000737) | +| HP:0020244 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:0034994 | subClassOf (rdfs:subClassOf) | Abnormal circulating proteinogenic amino acid derivative concentration (HP:0033108) | +| Submucous cleft soft palate (HP:0011819) | subClassOf (rdfs:subClassOf) | HP:5201016 | +| HP:0020254 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| HP:6000029 | subClassOf (rdfs:subClassOf) | HP:5200242 | +| HP:6000029 | subClassOf (rdfs:subClassOf) | Anxiety (HP:0000739) | +| HP:0020240 | subClassOf (rdfs:subClassOf) | HP:0020239 | +| HP:0040415 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:6000170 | subClassOf (rdfs:subClassOf) | Ameliorated by (HP:0025254) | +| Abnormal temper tantrums (HP:0025160) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Reduced response to another's attempt to get direct attention (HP:5200004) | subClassOf (rdfs:subClassOf) | Reduced social responsiveness (HP:5200103) | +| HP:0034902 | subClassOf (rdfs:subClassOf) | Abnormal calcium-phosphate regulating hormone level (HP:0100530) | +| HP:5200361 | subClassOf (rdfs:subClassOf) | Abnormal rapid eye movement sleep (HP:0002494) | +| HP:5200361 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| Reduced social smiling (HP:5200102) | subClassOf (rdfs:subClassOf) | HP:5200220 | +| HP:0035000 | subClassOf (rdfs:subClassOf) | Abnormal cutaneous collagen fibril morphology (HP:0031512) | +| HP:0034870 | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) | +| HP:6000206 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| Hydrophobia (HP:0032505) | subClassOf (rdfs:subClassOf) | Dysphagia (HP:0002015) | +| Dysharmonic maturation of the hand bones (HP:0004053) | subClassOf (rdfs:subClassOf) | Dysharmonic bone age (HP:0200000) | +| Abnormal circulating coenzyme concentration (HP:0034616) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0430054 | subClassOf (rdfs:subClassOf) | HP:0430060 | +| HP:0430077 | subClassOf (rdfs:subClassOf) | HP:0430076 | +| HP:6000187 | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| HP:0034907 | subClassOf (rdfs:subClassOf) | Porphyrinuria (HP:0010473) | +| HP:0020282 | subClassOf (rdfs:subClassOf) | HP:0020278 | +| HP:6000059 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| Abnormal circulating acetylcarnitine concentration (HP:0012071) | subClassOf (rdfs:subClassOf) | Abnormal circulating fatty-acid anion concentration (HP:0010966) | +| HP:0034877 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:0020288 | subClassOf (rdfs:subClassOf) | HP:0020233 | +| HP:0034844 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:6000266 | subClassOf (rdfs:subClassOf) | Dicarboxylic aciduria (HP:0003215) | +| Agoraphobia (HP:0000756) | subClassOf (rdfs:subClassOf) | HP:5200232 | +| HP:0034816 | subClassOf (rdfs:subClassOf) | Oligospermia (HP:0000798) | +| Generalized joint laxity (HP:0002761) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| HP:6000047 | subClassOf (rdfs:subClassOf) | Triggered by (HP:0025204) | +| Happy demeanor (HP:0040082) | subClassOf (rdfs:subClassOf) | HP:5200261 | +| HP:0430043 | subClassOf (rdfs:subClassOf) | Abnormal curvature of the vertebral column (HP:0010674) | +| HP:5200243 | subClassOf (rdfs:subClassOf) | Abnormal social behavior (HP:0012433) | +| Elevated circulating 3-hydroxypalmitoleylcarnitine concentration (HP:0033464) | subClassOf (rdfs:subClassOf) | HP:0035021 | +| HP:0034954 | subClassOf (rdfs:subClassOf) | Neoplasm of the thymus (HP:0100521) | +| HP:0034957 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0034832 | subClassOf (rdfs:subClassOf) | Liver hamartoma (HP:0034514) | +| Abnormal circulating lipid concentration (HP:0003119) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| Elevated circulating octenoylcarnitine concentration (HP:0033440) | subClassOf (rdfs:subClassOf) | HP:0035017 | +| HP:0034970 | subClassOf (rdfs:subClassOf) | Bladder neoplasm (HP:0009725) | +| HP:0034970 | subClassOf (rdfs:subClassOf) | Hamartoma (HP:0010566) | +| HP:0034825 | subClassOf (rdfs:subClassOf) | Ameliorated by exposure to medication (HP:0034536) | +| Anal fistula (HP:0010447) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| HP:0034827 | subClassOf (rdfs:subClassOf) | HP:0034826 | +| HP:0430059 | subClassOf (rdfs:subClassOf) | HP:0430051 | +| HP:0430030 | subClassOf (rdfs:subClassOf) | Abnormality of metabolism/homeostasis (HP:0001939) | +| HP:4000194 | subClassOf (rdfs:subClassOf) | Abnormal blood potassium concentration (HP:0011042) | +| HP:0020274 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:0020238 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:6000119 | subClassOf (rdfs:subClassOf) | Abnormal urinary pyrimidine level (HP:0033162) | +| HP:0034964 | subClassOf (rdfs:subClassOf) | Abnormal septum pellucidum morphology (HP:0007375) | +| HP:0034971 | subClassOf (rdfs:subClassOf) | Abnormality of the peritoneum (HP:0002585) | +| HP:0034815 | subClassOf (rdfs:subClassOf) | Oligospermia (HP:0000798) | +| HP:0034800 | subClassOf (rdfs:subClassOf) | Granulomatosis (HP:0002955) | +| HP:6000009 | subClassOf (rdfs:subClassOf) | Abnormality of connective tissue (HP:0003549) | +| HP:4000190 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| Negativism (HP:0410291) | subClassOf (rdfs:subClassOf) | Diminished motivation (HP:0000745) | +| Reduced red cell adenosine deaminase level (HP:0030273) | subClassOf (rdfs:subClassOf) | HP:4000209 | +| HP:0430094 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:5200339 | subClassOf (rdfs:subClassOf) | Self-mutilation (HP:0000742) | +| HP:0034885 | subClassOf (rdfs:subClassOf) | Abnormal urine protein level (HP:0020129) | +| HP:6000141 | subClassOf (rdfs:subClassOf) | Abnormal cerebral morphology (HP:0002060) | +| Unhappy demeanor (HP:0031588) | subClassOf (rdfs:subClassOf) | HP:5200261 | +| HP:0040410 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000228 | subClassOf (rdfs:subClassOf) | Abnormal cardiovascular system physiology (HP:0011025) | +| HP:0035029 | subClassOf (rdfs:subClassOf) | HP:0035026 | +| HP:6000256 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:0020231 | subClassOf (rdfs:subClassOf) | HP:0020229 | +| HP:6000051 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| HP:0020224 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:0430091 | subClassOf (rdfs:subClassOf) | HP:0020228 | +| HP:5200310 | subClassOf (rdfs:subClassOf) | HP:5200243 | +| HP:5200213 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| HP:0034901 | subClassOf (rdfs:subClassOf) | Abnormality of vitamin E metabolism (HP:0100514) | +| HP:0034850 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:5200267 | subClassOf (rdfs:subClassOf) | HP:5200214 | +| HP:0040403 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| Decreased alpha-mannosidase activity (HP:0034712) | subClassOf (rdfs:subClassOf) | HP:4000201 | +| HP:0034936 | subClassOf (rdfs:subClassOf) | Abnormal circulating cholesterol concentration (HP:0003107) | +| HP:5200360 | subClassOf (rdfs:subClassOf) | Abnormal rapid eye movement sleep (HP:0002494) | +| HP:5200360 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:0034884 | subClassOf (rdfs:subClassOf) | Abnormal uterine cervix morphology (HP:0012888) | +| HP:6000146 | subClassOf (rdfs:subClassOf) | Abnormal fallopian tube morphology (HP:0011027) | +| HP:5200239 | subClassOf (rdfs:subClassOf) | HP:5200237 | +| Abnormal communication (HP:0034434) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| HP:0020265 | subClassOf (rdfs:subClassOf) | HP:0020251 | +| HP:5200413 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| HP:0430044 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| HP:0430078 | subClassOf (rdfs:subClassOf) | HP:0430076 | +| HP:0020262 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| HP:6000087 | subClassOf (rdfs:subClassOf) | Abnormal penis morphology (HP:0000036) | +| HP:6000122 | subClassOf (rdfs:subClassOf) | Oligosacchariduria (HP:0010471) | +| HP:6000113 | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| HP:6000097 | subClassOf (rdfs:subClassOf) | Abnormal lens morphology (HP:0000517) | +| HP:0034853 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:5200357 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:6000243 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| Dissociative reaction (HP:0032940) | subClassOf (rdfs:subClassOf) | HP:5200216 | +| HP:0430050 | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| HP:6000016 | subClassOf (rdfs:subClassOf) | Abnormal vitamin B12 level (HP:0040126) | +| Abnormal circulating carboxylic acid concentration (HP:0004354) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0040406 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000018 | subClassOf (rdfs:subClassOf) | HP:0034916 | +| Reduced attention regulation (HP:5200044) | subClassOf (rdfs:subClassOf) | Cognitive impairment (HP:0100543) | +| HP:6000210 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:0034929 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:5200327 | subClassOf (rdfs:subClassOf) | Inappropriate sexual behavior (HP:0008768) | +| HP:5200327 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| HP:6000143 | subClassOf (rdfs:subClassOf) | Abnormal large intestine morphology (HP:0002250) | +| HP:6000149 | subClassOf (rdfs:subClassOf) | Abnormal muscle physiology (HP:0011804) | +| Ventricular couplet (HP:0034039) | subClassOf (rdfs:subClassOf) | Premature ventricular contraction (HP:0006682) | +| HP:6000090 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| Abnormal circulating porphyrin concentration (HP:0010472) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| No social interaction (HP:0008763) | subClassOf (rdfs:subClassOf) | Abnormal relationship (HP:5200024) | +| Immotile sperm (HP:0012208) | subClassOf (rdfs:subClassOf) | Reduced sperm motility (HP:0012207) | +| HP:6000023 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| Compulsive behaviors (HP:0000722) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Vivid hallucinations (HP:0006803) | subClassOf (rdfs:subClassOf) | Visual hallucinations (HP:0002367) | +| HP:0034999 | subClassOf (rdfs:subClassOf) | Abnormal cutaneous collagen fibril morphology (HP:0031512) | +| Suicidal ideation (HP:0031589) | subClassOf (rdfs:subClassOf) | HP:5200269 | +| HP:6000115 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:0034881 | subClassOf (rdfs:subClassOf) | Abnormal uterus morphology (HP:0031105) | +| HP:5200214 | subClassOf (rdfs:subClassOf) | Hallucinations (HP:0000738) | +| HP:0034990 | subClassOf (rdfs:subClassOf) | Shoulder contracture (HP:0034665) | +| HP:0034842 | subClassOf (rdfs:subClassOf) | Abnormal sperm head morphology (HP:0012865) | +| HP:0035019 | subClassOf (rdfs:subClassOf) | HP:0035015 | +| HP:0034988 | subClassOf (rdfs:subClassOf) | Abnormality of thalamus morphology (HP:0010663) | +| HP:5200211 | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:0020268 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:6000168 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| Anti-thyroid peroxidase antibody positivity (HP:0025379) | subClassOf (rdfs:subClassOf) | HP:0430050 | +| HP:6000171 | subClassOf (rdfs:subClassOf) | Abnormality of the abdominal wall (HP:0004298) | +| HP:0034928 | subClassOf (rdfs:subClassOf) | Abnormal muscle tissue metabolite concentration (HP:0034370) | +| HP:4000205 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Cleft lip (HP:0410030) | subClassOf (rdfs:subClassOf) | Abnormal lip morphology (HP:0000159) | +| HP:6000161 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:6000255 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:5200271 | subClassOf (rdfs:subClassOf) | HP:5200242 | +| HP:5200417 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:5200290 | subClassOf (rdfs:subClassOf) | HP:5200293 | +| HP:5200290 | subClassOf (rdfs:subClassOf) | Auditory hallucinations (HP:0008765) | +| HP:6000159 | subClassOf (rdfs:subClassOf) | Abnormal liver parenchyma morphology (HP:0030146) | +| HP:0034980 | subClassOf (rdfs:subClassOf) | Abnormality of movement (HP:0100022) | +| HP:5200218 | subClassOf (rdfs:subClassOf) | HP:5200216 | +| HP:6000218 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0034945 | subClassOf (rdfs:subClassOf) | Abnormal testis morphology (HP:0000035) | +| Reduced epidermal keratin 10 protein expression (HP:0034574) | subClassOf (rdfs:subClassOf) | HP:0035004 | +| HP:5200241 | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| HP:6000227 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:4000204 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0430098 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:6000011 | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| HP:0034895 | subClassOf (rdfs:subClassOf) | Abnormal metabolic brain imaging by MRS (HP:0012705) | +| HP:0034836 | subClassOf (rdfs:subClassOf) | Renal neoplasm (HP:0009726) | +| Cerebral calcification (HP:0002514) | subClassOf (rdfs:subClassOf) | HP:0430048 | +| Knee joint hypermobility (HP:0045086) | subClassOf (rdfs:subClassOf) | HP:0430047 | +| Abnormal emotion/affect behavior (HP:0100851) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| Narcolepsy (HP:0030050) | subClassOf (rdfs:subClassOf) | Hypersomnia (HP:0100786) | +| Abnormality of the seventh cranial nerve (HP:0010827) | subClassOf (rdfs:subClassOf) | Abnormal cranial nerve physiology (HP:0031910) | +| HP:0035001 | subClassOf (rdfs:subClassOf) | Abnormal cutaneous collagen fibril morphology (HP:0031512) | +| HP:0430058 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| Elevated circulating palmitoleylcarnitine concentration (HP:0031544) | subClassOf (rdfs:subClassOf) | HP:0035021 | +| HP:0034918 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| HP:0035007 | subClassOf (rdfs:subClassOf) | Abnormal sperm mid-piece morphology (HP:0012867) | +| HP:0034893 | subClassOf (rdfs:subClassOf) | Abnormal metabolic brain imaging by MRS (HP:0012705) | +| HP:0034967 | subClassOf (rdfs:subClassOf) | Abnormal uterus morphology (HP:0031105) | +| HP:0035025 | subClassOf (rdfs:subClassOf) | HP:0035021 | +| HP:5200329 | subClassOf (rdfs:subClassOf) | HP:0430037 | +| Elevated urinary uromodulin (HP:0020150) | subClassOf (rdfs:subClassOf) | HP:0034885 | +| HP:0034912 | subClassOf (rdfs:subClassOf) | Increased circulating apolipoprotein circulation (HP:0033460) | +| HP:6000195 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| HP:6000124 | subClassOf (rdfs:subClassOf) | Elevated urine keto acid level (HP:0033456) | +| HP:0040413 | subClassOf (rdfs:subClassOf) | Abnormal vagina morphology (HP:0000142) | +| HP:0040421 | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| HP:4000203 | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| HP:0040402 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| Astereognosia (HP:0010527) | subClassOf (rdfs:subClassOf) | HP:5200406 | +| HP:6000084 | subClassOf (rdfs:subClassOf) | Abnormality of fontanelles (HP:0011328) | +| HP:0034947 | subClassOf (rdfs:subClassOf) | Abnormal sperm tail morphology (HP:0012868) | +| Elevated circulating palmitoylcarnitine concentration (HP:0033382) | subClassOf (rdfs:subClassOf) | HP:0035021 | +| HP:0430074 | subClassOf (rdfs:subClassOf) | HP:0430072 | +| HP:0020290 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:0034899 | subClassOf (rdfs:subClassOf) | Abnormality of the amniotic fluid (HP:0001560) | +| HP:0020234 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:6000099 | subClassOf (rdfs:subClassOf) | Abnormal respiratory epithelium morphology (HP:0012253) | +| HP:6000052 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| Low self esteem (HP:0031469) | subClassOf (rdfs:subClassOf) | HP:5200242 | +| HP:4000199 | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| Elevated circulating dodecanoylcarnitine concentration (HP:0033444) | subClassOf (rdfs:subClassOf) | HP:0035017 | +| HP:0020273 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:0034985 | subClassOf (rdfs:subClassOf) | Abnormal cellular physiology (HP:0011017) | +| HP:6000185 | subClassOf (rdfs:subClassOf) | Abnormality of circulating cortisol level (HP:0011731) | +| HP:0034890 | subClassOf (rdfs:subClassOf) | HP:0034889 | +| HP:6000072 | subClassOf (rdfs:subClassOf) | Abnormal small intestine morphology (HP:0002244) | +| Elevated circulating linoleylcarnitine concentration (HP:0033484) | subClassOf (rdfs:subClassOf) | HP:0035020 | +| HP:0034838 | subClassOf (rdfs:subClassOf) | Intra-epidermal blistering (HP:0033802) | +| Hand monodactyly (HP:0004058) | subClassOf (rdfs:subClassOf) | Aplasia of the fingers (HP:0009380) | +| Submucous cleft hard palate (HP:0000176) | subClassOf (rdfs:subClassOf) | Cleft hard palate (HP:0410005) | +| Submucous cleft hard palate (HP:0000176) | subClassOf (rdfs:subClassOf) | HP:5201016 | +| HP:0034986 | subClassOf (rdfs:subClassOf) | Abnormal brainstem morphology (HP:0002363) | +| HP:4000209 | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| HP:6000241 | subClassOf (rdfs:subClassOf) | Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080) | +| Claustrophobia (HP:0025253) | subClassOf (rdfs:subClassOf) | HP:5200232 | +| HP:6000027 | subClassOf (rdfs:subClassOf) | Pigmentation of the sclera (HP:0007832) | +| Restlessness (HP:0000711) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| HP:5200200 | subClassOf (rdfs:subClassOf) | Hallucinations (HP:0000738) | +| HP:5200429 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:6000130 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:4000193 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:0020269 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:6000251 | subClassOf (rdfs:subClassOf) | Abnormal small intestinal mucosa morphology (HP:0025129) | +| HP:5200309 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:6000069 | subClassOf (rdfs:subClassOf) | Lacrimation abnormality (HP:0000632) | +| HP:0034878 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| HP:0430062 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:6000200 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0035012 | subClassOf (rdfs:subClassOf) | Abnormal systemic arterial morphology (HP:0011004) | +| HP:5200403 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| Anhedonia (HP:0012154) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| HP:5200325 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| Anal mucosal leukoplakia (HP:0005212) | subClassOf (rdfs:subClassOf) | Anal neoplasm (HP:0032186) | +| HP:6000165 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:6000063 | subClassOf (rdfs:subClassOf) | Abnormal intrahepatic bile duct morphology (HP:0011040) | +| HP:0034840 | subClassOf (rdfs:subClassOf) | Abnormal epidermal morphology (HP:0011124) | +| HP:0034987 | subClassOf (rdfs:subClassOf) | Abnormal optic nerve morphology (HP:0000587) | +| HP:5200415 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:0034940 | subClassOf (rdfs:subClassOf) | Muscle fiber inclusion bodies (HP:0100299) | +| Emotional insecurity (HP:0033625) | subClassOf (rdfs:subClassOf) | HP:5200230 | +| Emotional insecurity (HP:0033625) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| HP:0034981 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:6000212 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| Oocyte arrest at metaphase I (HP:0031516) | subClassOf (rdfs:subClassOf) | HP:0034914 | +| HP:6000175 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| HP:6000188 | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| HP:4000202 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:6000157 | subClassOf (rdfs:subClassOf) | Abnormal pancreas morphology (HP:0012090) | +| Avoidance of stimuli associated with traumatic event (HP:0032942) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| HP:6000172 | subClassOf (rdfs:subClassOf) | Abnormality of the tympanic membrane (HP:0040090) | +| HP:6000152 | subClassOf (rdfs:subClassOf) | Adrenocortical abnormality (HP:0000849) | +| HP:6000110 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| HP:0430067 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:0040412 | subClassOf (rdfs:subClassOf) | Abnormal left ventricle morphology (HP:0001711) | +| HP:0040412 | subClassOf (rdfs:subClassOf) | Abnormal thrombosis (HP:0001977) | +| HP:0034834 | subClassOf (rdfs:subClassOf) | Abnormal peripheral nervous system morphology (HP:0000759) | +| Depression (HP:0000716) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Depression (HP:0000716) | subClassOf (rdfs:subClassOf) | Diminished motivation (HP:0000745) | +| Reduced attempt to get or direct another's attention (HP:5200027) | subClassOf (rdfs:subClassOf) | Abnormal interest in others (HP:5200020) | +| HP:5200352 | subClassOf (rdfs:subClassOf) | HP:5200296 | +| HP:5200352 | subClassOf (rdfs:subClassOf) | Sleep paralysis (HP:0025233) | +| HP:0034914 | subClassOf (rdfs:subClassOf) | Abnormal female meiosis (HP:0033338) | +| HP:0034963 | subClassOf (rdfs:subClassOf) | Abnormal ureter morphology (HP:0025633) | +| HP:6000014 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| HP:5200210 | subClassOf (rdfs:subClassOf) | HP:5200216 | +| HP:6000123 | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| Lethargy (HP:0001254) | subClassOf (rdfs:subClassOf) | Diminished motivation (HP:0000745) | +| HP:0020293 | subClassOf (rdfs:subClassOf) | HP:0020287 | +| HP:0034863 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:0034845 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| Snoring (HP:0025267) | subClassOf (rdfs:subClassOf) | HP:5200283 | +| HP:5200235 | subClassOf (rdfs:subClassOf) | Abnormal language feature (HP:4000072) | +| HP:6000035 | subClassOf (rdfs:subClassOf) | Ameliorated by (HP:0025254) | +| HP:0020243 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:6000025 | subClassOf (rdfs:subClassOf) | Abnormal cerumen color (HP:0030790) | +| HP:6000208 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:6000006 | subClassOf (rdfs:subClassOf) | Poikiloderma (HP:0001029) | +| HP:4000196 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:6000201 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:6000234 | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) | +| HP:0020283 | subClassOf (rdfs:subClassOf) | HP:0020282 | +| HP:0034979 | subClassOf (rdfs:subClassOf) | HP:0034980 | +| HP:5200273 | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| HP:0020279 | subClassOf (rdfs:subClassOf) | HP:0020278 | +| HP:0034927 | subClassOf (rdfs:subClassOf) | Abnormal epidermis stratum granulosum morphology (HP:0033806) | +| HP:0034927 | subClassOf (rdfs:subClassOf) | Abnormal keratinocyte morphology (HP:0034702) | +| HP:0035013 | subClassOf (rdfs:subClassOf) | Abnormal biliary tract morphology (HP:0012440) | +| HP:5200405 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| Submucous cleft lip (HP:0009101) | subClassOf (rdfs:subClassOf) | Microform cleft of the upper lip (HP:5201010) | +| HP:6000004 | subClassOf (rdfs:subClassOf) | Lymphatic vessel neoplasm (HP:0012797) | +| HP:6000013 | subClassOf (rdfs:subClassOf) | Dyspnea (HP:0002094) | +| HP:0034808 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| HP:0034808 | subClassOf (rdfs:subClassOf) | Abnormal eyelid physiology (HP:0031879) | +| HP:0430053 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:5200416 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:4000201 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:6000213 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| HP:0034804 | subClassOf (rdfs:subClassOf) | Abnormal eye physiology (HP:0012373) | +| HP:5200237 | subClassOf (rdfs:subClassOf) | Speech articulation difficulties (HP:0009088) | +| HP:6000030 | subClassOf (rdfs:subClassOf) | HP:5200261 | +| Recurrent bronchitis (HP:0002837) | subClassOf (rdfs:subClassOf) | Recurrent lower respiratory tract infections (HP:0002783) | +| HP:6000043 | subClassOf (rdfs:subClassOf) | Abnormal ear physiology (HP:0031704) | +| HP:0034802 | subClassOf (rdfs:subClassOf) | Aggravated by (HP:0025285) | +| HP:0034924 | subClassOf (rdfs:subClassOf) | Abnormality of skin morphology (HP:0011121) | +| Elevated 7-dehydrocholesterol (HP:0010569) | subClassOf (rdfs:subClassOf) | HP:0034934 | +| HP:0020249 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:5200422 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:5200316 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| Benzodiazepine addiction (HP:0033516) | subClassOf (rdfs:subClassOf) | HP:5200331 | +| Palilalia (HP:0031814) | subClassOf (rdfs:subClassOf) | Idiosyncratic language (HP:4000074) | +| HP:0430082 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:0020237 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| Lisch nodules (HP:0009737) | subClassOf (rdfs:subClassOf) | HP:0034819 | +| HP:6000033 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:6000081 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Oral ulcer (HP:0000155) | subClassOf (rdfs:subClassOf) | Erosion of oral mucosa (HP:0031446) | +| HP:6000134 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:6000252 | subClassOf (rdfs:subClassOf) | Abnormal fetal pulmonary morphology (HP:0034243) | +| HP:6000039 | subClassOf (rdfs:subClassOf) | Abnormal liver physiology (HP:0031865) | +| HP:0430066 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| Self-injurious behavior (HP:0100716) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| HP:0020276 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:5200296 | subClassOf (rdfs:subClassOf) | HP:5200293 | +| HP:5200320 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| Meningeal calcification (HP:0100250) | subClassOf (rdfs:subClassOf) | HP:0430048 | +| HP:6000100 | subClassOf (rdfs:subClassOf) | Abnormal respiratory system physiology (HP:0002795) | +| HP:6000008 | subClassOf (rdfs:subClassOf) | Abnormal hemidiaphragm morphology (HP:0040045) | +| HP:0034975 | subClassOf (rdfs:subClassOf) | Abnormal occipital bone morphology (HP:0012294) | +| Nail-biting (HP:0012170) | subClassOf (rdfs:subClassOf) | Compulsive behaviors (HP:0000722) | +| HP:6000034 | subClassOf (rdfs:subClassOf) | Recent past medical history (HP:4000144) | +| Arrhinencephaly (HP:0002139) | subClassOf (rdfs:subClassOf) | Abnormal forebrain morphology (HP:0100547) | +| HP:0020280 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:0034920 | subClassOf (rdfs:subClassOf) | Abnormal nasal mucosa morphology (HP:0000433) | +| HP:0034805 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| HP:6000026 | subClassOf (rdfs:subClassOf) | Nutrition history (HP:4000123) | +| HP:0430086 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:0034917 | subClassOf (rdfs:subClassOf) | HP:0034916 | +| HP:6000189 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| HP:0034921 | subClassOf (rdfs:subClassOf) | Neoplasm of the anterior pituitary (HP:0011750) | +| HP:6000215 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:6000007 | subClassOf (rdfs:subClassOf) | Salivary gland neoplasm (HP:0100684) | +| HP:5200428 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:6000053 | subClassOf (rdfs:subClassOf) | Abnormal uterus morphology (HP:0031105) | +| HP:6000071 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| HP:0034955 | subClassOf (rdfs:subClassOf) | Abnormal granulocytopoietic cell morphology (HP:0012135) | +| HP:6000024 | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| Distal joint laxity (HP:0020152) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:6000041 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:6000197 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| HP:0034949 | subClassOf (rdfs:subClassOf) | Uterine neoplasm (HP:0010784) | +| Cleft lower alveolar ridge (HP:0009094) | subClassOf (rdfs:subClassOf) | Abnormality of the alveolar ridges (HP:0006477) | +| Neoplasm of the gastrointestinal tract (HP:0007378) | subClassOf (rdfs:subClassOf) | HP:0034930 | +| HP:6000050 | subClassOf (rdfs:subClassOf) | Ameliorated by (HP:0025254) | +| HP:0020250 | subClassOf (rdfs:subClassOf) | HP:0020249 | +| HP:0034919 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:6000259 | subClassOf (rdfs:subClassOf) | Functional abnormality of the gastrointestinal tract (HP:0012719) | +| HP:0020258 | subClassOf (rdfs:subClassOf) | HP:0020250 | +| HP:6000096 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000001 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| HP:0020287 | subClassOf (rdfs:subClassOf) | HP:0020288 | +| HP:5200331 | subClassOf (rdfs:subClassOf) | Drug addiction (HP:0033511) | +| HP:0040424 | subClassOf (rdfs:subClassOf) | HP:0040423 | +| HP:5200201 | subClassOf (rdfs:subClassOf) | Hallucinations (HP:0000738) | +| HP:6000148 | subClassOf (rdfs:subClassOf) | Abnormal liver morphology (HP:0410042) | +| HP:5200337 | subClassOf (rdfs:subClassOf) | Compulsive behaviors (HP:0000722) | +| HP:6000109 | subClassOf (rdfs:subClassOf) | Abnormal finger flexion crease (HP:0006143) | +| HP:5200276 | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| HP:5200362 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:6000216 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Bimanual synkinesia (HP:0001335) | subClassOf (rdfs:subClassOf) | HP:0034980 | +| HP:0034905 | subClassOf (rdfs:subClassOf) | Elevated circulating porphyrin concentration (HP:0034606) | +| HP:5200358 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| Otitis media (HP:0000388) | subClassOf (rdfs:subClassOf) | Morphological abnormality of the middle ear (HP:0008609) | +| HP:6000204 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:5200292 | subClassOf (rdfs:subClassOf) | Insomnia (HP:0100785) | +| HP:0430073 | subClassOf (rdfs:subClassOf) | HP:0430072 | +| HP:0034959 | subClassOf (rdfs:subClassOf) | Abnormal sperm neck morphology (HP:0012866) | +| HP:0040425 | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| HP:5200227 | subClassOf (rdfs:subClassOf) | HP:5200235 | +| HP:6000137 | subClassOf (rdfs:subClassOf) | Abnormality of the nail (HP:0001597) | +| HP:0035008 | subClassOf (rdfs:subClassOf) | Abnormal sperm mid-piece morphology (HP:0012867) | +| HP:0020278 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| Elevated circulating decenoylcarnitine concentration (HP:0033439) | subClassOf (rdfs:subClassOf) | HP:0035017 | +| HP:0034908 | subClassOf (rdfs:subClassOf) | Abnormal circulating dehydroepiandrosterone concentration (HP:0500022) | +| Hypermobility of interphalangeal joints (HP:0005620) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:0034888 | subClassOf (rdfs:subClassOf) | HP:0040418 | +| HP:0430065 | subClassOf (rdfs:subClassOf) | HP:0430060 | +| HP:0035033 | subClassOf (rdfs:subClassOf) | Reduced circulating acylcarnitine concentration (HP:0033445) | +| HP:0034871 | subClassOf (rdfs:subClassOf) | Decreased urinary catecholamine concentration (HP:0045012) | +| HP:6000022 | subClassOf (rdfs:subClassOf) | Connective tissue nevi (HP:0100898) | +| HP:5200406 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| HP:0034860 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:6000245 | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) | +| Panic attack (HP:0025269) | subClassOf (rdfs:subClassOf) | Anxiety (HP:0000739) | +| HP:5200215 | subClassOf (rdfs:subClassOf) | HP:5200214 | +| HP:0430080 | subClassOf (rdfs:subClassOf) | HP:0430061 | +| HP:5201015 | subClassOf (rdfs:subClassOf) | Abnormality of the head (HP:0000234) | +| HP:6000032 | subClassOf (rdfs:subClassOf) | Hearing abnormality (HP:0000364) | +| HP:0020255 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| Elevated circulating tetradecanoylcarnitine concentration (HP:0033465) | subClassOf (rdfs:subClassOf) | HP:0035018 | +| HP:0034930 | subClassOf (rdfs:subClassOf) | Abnormality of the digestive system (HP:0025031) | +| HP:5200424 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:5200203 | subClassOf (rdfs:subClassOf) | HP:5200214 | +| HP:0035011 | subClassOf (rdfs:subClassOf) | HP:0035010 | +| HP:0020291 | subClassOf (rdfs:subClassOf) | HP:0020289 | +| HP:0034903 | subClassOf (rdfs:subClassOf) | HP:0034902 | +| Insistence on sameness (HP:5200130) | subClassOf (rdfs:subClassOf) | Disinhibition (HP:0000734) | +| HP:0034855 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:6000068 | subClassOf (rdfs:subClassOf) | Ameliorated by (HP:0025254) | +| HP:0020239 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| Elevated circulating hexanoylcarnitine concentration (HP:0033441) | subClassOf (rdfs:subClassOf) | HP:0035026 | +| HP:0430081 | subClassOf (rdfs:subClassOf) | HP:0430061 | +| HP:0020251 | subClassOf (rdfs:subClassOf) | HP:0020249 | +| HP:5200216 | subClassOf (rdfs:subClassOf) | HP:5200202 | +| Hip joint hypermobility (HP:0045087) | subClassOf (rdfs:subClassOf) | HP:0430047 | +| HP:5200332 | subClassOf (rdfs:subClassOf) | Addictive behavior (HP:0030858) | +| HP:0034833 | subClassOf (rdfs:subClassOf) | Lipoma (HP:0012032) | +| HP:0034814 | subClassOf (rdfs:subClassOf) | Abnormal conjunctiva morphology (HP:0000502) | +| HP:6000186 | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| HP:6000176 | subClassOf (rdfs:subClassOf) | Abnormal neck morphology (HP:0025668) | +| HP:0430088 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:6000249 | subClassOf (rdfs:subClassOf) | Abnormal stomach morphology (HP:0002577) | +| HP:5200297 | subClassOf (rdfs:subClassOf) | HP:5200293 | +| HP:0430037 | subClassOf (rdfs:subClassOf) | Addictive behavior (HP:0030858) | +| HP:6000246 | subClassOf (rdfs:subClassOf) | Abnormal CSF carboxylic acid concentration (HP:0500183) | +| HP:5200321 | subClassOf (rdfs:subClassOf) | Inappropriate sexual behavior (HP:0008768) | +| HP:5200321 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| HP:5200419 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:0020266 | subClassOf (rdfs:subClassOf) | HP:0020230 | +| HP:0034797 | subClassOf (rdfs:subClassOf) | Hemophagocytosis (HP:0012156) | +| HP:6000140 | subClassOf (rdfs:subClassOf) | Abnormal knee physiology (HP:0034670) | +| HP:6000151 | subClassOf (rdfs:subClassOf) | Abnormal peroxisomal morphology (HP:0034552) | +| HP:6000107 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| HP:6000062 | subClassOf (rdfs:subClassOf) | Abnormal breast physiology (HP:0031094) | +| Psychotic episodes (HP:0000725) | subClassOf (rdfs:subClassOf) | HP:5200430 | +| HP:6000120 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:0430045 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| HP:5200401 | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:5200334 | subClassOf (rdfs:subClassOf) | HP:5200332 | +| Tearfulness (HP:0033705) | subClassOf (rdfs:subClassOf) | HP:5200261 | +| HP:6000181 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000203 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:6000193 | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| HP:4000197 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:6000263 | subClassOf (rdfs:subClassOf) | HP:0034924 | +| HP:0034904 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| Diminished motivation (HP:0000745) | subClassOf (rdfs:subClassOf) | HP:5200275 | +| HP:6000080 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Mania (HP:0100754) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Mania (HP:0100754) | subClassOf (rdfs:subClassOf) | HP:5200263 | +| HP:0035003 | subClassOf (rdfs:subClassOf) | HP:0035004 | +| HP:0034867 | subClassOf (rdfs:subClassOf) | HP:0034866 | +| HP:4000187 | subClassOf (rdfs:subClassOf) | Spermatogenesis maturation arrest (HP:0031038) | +| HP:5200341 | subClassOf (rdfs:subClassOf) | Drug addiction (HP:0033511) | +| HP:0035026 | subClassOf (rdfs:subClassOf) | HP:0035017 | +| HP:6000199 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0034876 | subClassOf (rdfs:subClassOf) | Decreased urinary catecholamine concentration (HP:0045012) | +| Ignores peers (HP:4000083) | subClassOf (rdfs:subClassOf) | Reduced social responsiveness (HP:5200103) | +| HP:5200425 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| Elevated calcitonin (HP:0003528) | subClassOf (rdfs:subClassOf) | HP:0034902 | +| HP:0020236 | subClassOf (rdfs:subClassOf) | HP:0020234 | +| HP:5200338 | subClassOf (rdfs:subClassOf) | Compulsive behaviors (HP:0000722) | +| HP:0034996 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0034898 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| HP:0020284 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:6000147 | subClassOf (rdfs:subClassOf) | Abnormal metabolic brain imaging by MRS (HP:0012705) | +| HP:0034943 | subClassOf (rdfs:subClassOf) | Abnormal cutaneous collagen fibril morphology (HP:0031512) | +| HP:0034938 | subClassOf (rdfs:subClassOf) | Abnormal circulating carbohydrate concentration (HP:0011013) | +| Psychotic mentation (HP:0001345) | subClassOf (rdfs:subClassOf) | HP:5200430 | +| HP:6000274 | subClassOf (rdfs:subClassOf) | Elevated urinary carboxylic acid (HP:0040156) | +| HP:5200426 | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| HP:0020295 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| Sense of impending doom (HP:0033845) | subClassOf (rdfs:subClassOf) | HP:5200401 | +| Psychosis (HP:0000709) | subClassOf (rdfs:subClassOf) | HP:5200430 | +| HP:0034817 | subClassOf (rdfs:subClassOf) | Oligospermia (HP:0000798) | +| HP:0020271 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| Anorexia (HP:0002039) | subClassOf (rdfs:subClassOf) | Abnormal consumption behavior (HP:0040202) | +| HP:5200407 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| HP:0034941 | subClassOf (rdfs:subClassOf) | Palate neoplasm (HP:0031366) | +| HP:6000056 | subClassOf (rdfs:subClassOf) | Abnormality of subcutaneous fat tissue (HP:0001001) | +| HP:0035016 | subClassOf (rdfs:subClassOf) | HP:0035015 | +| HP:0020225 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:0020225 | subClassOf (rdfs:subClassOf) | Abscess (HP:0025615) | +| HP:0430079 | subClassOf (rdfs:subClassOf) | HP:0430061 | +| Perianal dermatitis (HP:0011131) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| Bloodstream infectious agent (HP:0031863) | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:5200322 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| HP:6000180 | subClassOf (rdfs:subClassOf) | Triggered by (HP:0025204) | +| HP:5200402 | subClassOf (rdfs:subClassOf) | HP:5200401 | +| HP:0020267 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:6000253 | subClassOf (rdfs:subClassOf) | Vasculitis by histology (HP:0034785) | +| HP:5200284 | subClassOf (rdfs:subClassOf) | Bruxism (HP:0003763) | +| HP:5200284 | subClassOf (rdfs:subClassOf) | HP:5200300 | +| HP:0034939 | subClassOf (rdfs:subClassOf) | Abnormal joint morphology (HP:0001367) | +| HP:0035023 | subClassOf (rdfs:subClassOf) | HP:0035015 | +| HP:6000060 | subClassOf (rdfs:subClassOf) | Abdominal symptom (HP:0011458) | +| HP:0035006 | subClassOf (rdfs:subClassOf) | Abnormal liver parenchyma morphology (HP:0030146) | +| HP:6000085 | subClassOf (rdfs:subClassOf) | Abnormal penis morphology (HP:0000036) | +| Inappropriate behavior (HP:0000719) | subClassOf (rdfs:subClassOf) | Social disinhibition (HP:5200029) | +| HP:0020247 | subClassOf (rdfs:subClassOf) | HP:0020255 | +| HP:5200261 | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| HP:0034894 | subClassOf (rdfs:subClassOf) | Abnormal metabolic brain imaging by MRS (HP:0012705) | +| HP:6000235 | subClassOf (rdfs:subClassOf) | Abnormal homeostasis (HP:0012337) | +| HP:6000095 | subClassOf (rdfs:subClassOf) | Localized skin lesion (HP:0011355) | +| HP:0034974 | subClassOf (rdfs:subClassOf) | Abnormal calvaria morphology (HP:0002683) | +| HP:4000192 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:6000079 | subClassOf (rdfs:subClassOf) | Abnormal peripheral nervous system morphology (HP:0000759) | +| HP:0430056 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:6000125 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:5200335 | subClassOf (rdfs:subClassOf) | HP:5200332 | +| Manifestations of perseverative thought or action (HP:0030223) | subClassOf (rdfs:subClassOf) | HP:5200269 | +| Hyperactivity (HP:0000752) | subClassOf (rdfs:subClassOf) | Disinhibition (HP:0000734) | +| HP:6000102 | subClassOf (rdfs:subClassOf) | Neoplasm of the breast (HP:0100013) | +| HP:0430046 | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| HP:5200293 | subClassOf (rdfs:subClassOf) | Parasomnia (HP:0025234) | +| HP:0430034 | subClassOf (rdfs:subClassOf) | Hypertension (HP:0000822) | +| HP:4000208 | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| HP:6000222 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| HP:6000229 | subClassOf (rdfs:subClassOf) | Abnormal nipple morphology (HP:0004404) | +| HP:6000231 | subClassOf (rdfs:subClassOf) | Abnormal enzyme concentration or activity (HP:0034684) | +| HP:6000031 | subClassOf (rdfs:subClassOf) | Opportunistic fungal infection (HP:0032255) | +| HP:0034824 | subClassOf (rdfs:subClassOf) | Pulmonary interstitial lymphocyte infiltration (HP:0033582) | +| HP:0034953 | subClassOf (rdfs:subClassOf) | Neoplasm of the small intestine (HP:0100833) | +| Abnormal circulating amino sulfonic acid concentration (HP:0500180) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:6000133 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Confusional arousal (HP:0025237) | subClassOf (rdfs:subClassOf) | HP:5200297 | +| HP:6000045 | subClassOf (rdfs:subClassOf) | Ameliorated by exposure to medication (HP:0034536) | +| HP:0430072 | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0020286 | subClassOf (rdfs:subClassOf) | HP:0020284 | +| HP:0034869 | subClassOf (rdfs:subClassOf) | Abnormal circulating porphyrin concentration (HP:0010472) | +| HP:6000108 | subClassOf (rdfs:subClassOf) | Abnormal penis morphology (HP:0000036) | +| Low frustration tolerance (HP:0000744) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Ectopic anus (HP:0004397) | subClassOf (rdfs:subClassOf) | HP:0034915 | +| HP:0035017 | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| HP:0035014 | subClassOf (rdfs:subClassOf) | HP:0035013 | +| HP:0034812 | subClassOf (rdfs:subClassOf) | Non-obstructive azoospermia (HP:0011961) | +| Restless legs (HP:0012452) | subClassOf (rdfs:subClassOf) | Akathisia (HP:0031943) | +| Restless legs (HP:0012452) | subClassOf (rdfs:subClassOf) | HP:5200300 | +| HP:6000101 | subClassOf (rdfs:subClassOf) | Abnormal eyelid morphology (HP:0000492) | +| HP:6000101 | subClassOf (rdfs:subClassOf) | Abnormal cornea morphology (HP:0000481) | +| HP:0034830 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0034909 | subClassOf (rdfs:subClassOf) | Elevated circulating porphyrin concentration (HP:0034606) | +| HP:0035005 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| HP:0430101 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:0034932 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0430051 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| Hypersomnia (HP:0100786) | subClassOf (rdfs:subClassOf) | Drowsiness (HP:0002329) | +| Extrahepatic biliary duct atresia (HP:0005242) | subClassOf (rdfs:subClassOf) | HP:0035013 | +| HP:6000088 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| HP:0034931 | subClassOf (rdfs:subClassOf) | Abnormal lumbar spine morphology (HP:0100712) | +| HP:5200412 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| HP:6000248 | subClassOf (rdfs:subClassOf) | Abnormal joint morphology (HP:0001367) | +| HP:0034852 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:0034880 | subClassOf (rdfs:subClassOf) | Abnormality of adrenal morphology (HP:0011732) | +| Negative affectivity (HP:0031467) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| HP:0034910 | subClassOf (rdfs:subClassOf) | Elevated circulating porphyrin concentration (HP:0034606) | +| Posttraumatic stress symptom (HP:0033676) | subClassOf (rdfs:subClassOf) | HP:5200230 | +| Elevated circulating stearoylcarnitine concentration (HP:0033381) | subClassOf (rdfs:subClassOf) | HP:0035020 | +| Hyperextensibility at wrists (HP:0005072) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:0034972 | subClassOf (rdfs:subClassOf) | Abnormal fallopian tube morphology (HP:0011027) | +| HP:0034809 | subClassOf (rdfs:subClassOf) | Functional abnormality of male internal genitalia (HP:0000025) | +| HP:4000191 | subClassOf (rdfs:subClassOf) | HP:4000201 | +| HP:0430063 | subClassOf (rdfs:subClassOf) | HP:0430061 | +| HP:6000219 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:0034946 | subClassOf (rdfs:subClassOf) | Abnormal eyelid morphology (HP:0000492) | +| HP:6000065 | subClassOf (rdfs:subClassOf) | Abnormal esophagus morphology (HP:0002031) | +| HP:0040419 | subClassOf (rdfs:subClassOf) | HP:0040418 | +| HP:0034995 | subClassOf (rdfs:subClassOf) | Abnormal liver enzyme activity or concentration (HP:0034685) | +| Elevated circulating butyrylcarnitine concentration (HP:0033446) | subClassOf (rdfs:subClassOf) | HP:0035016 | +| Lack of insight (HP:0000757) | subClassOf (rdfs:subClassOf) | HP:5200401 | +| Non-midline cleft lip (HP:0100335) | subClassOf (rdfs:subClassOf) | Orofacial cleft (HP:0000202) | +| HP:6000127 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:4000212 | subClassOf (rdfs:subClassOf) | Abnormality of vitamin A metabolism (HP:0008372) | +| HP:6000269 | subClassOf (rdfs:subClassOf) | Monocarboxylic aciduria (HP:0034653) | +| HP:5201016 | subClassOf (rdfs:subClassOf) | Cleft palate (HP:0000175) | +| Hyperextensible hand joints (HP:0005639) | subClassOf (rdfs:subClassOf) | HP:0430046 | +| HP:6000174 | subClassOf (rdfs:subClassOf) | Abnormal neck morphology (HP:0025668) | +| HP:0040405 | subClassOf (rdfs:subClassOf) | Abnormal breast morphology (HP:0031093) | +| HP:5200430 | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:0020246 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| HP:0034951 | subClassOf (rdfs:subClassOf) | Neoplasm of the skeletal system (HP:0010622) | +| HP:5200238 | subClassOf (rdfs:subClassOf) | HP:5200237 | +| Disinhibition (HP:0000734) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Somnambulism (HP:0025236) | subClassOf (rdfs:subClassOf) | HP:5200300 | +| HP:6000144 | subClassOf (rdfs:subClassOf) | Abnormal left ventricle morphology (HP:0001711) | +| HP:0034803 | subClassOf (rdfs:subClassOf) | Lacrimation abnormality (HP:0000632) | +| HP:4000198 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| Addictive behavior (HP:0030858) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Abnormal fear/anxiety-related behavior (HP:0100852) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| Self-neglect (HP:0025479) | subClassOf (rdfs:subClassOf) | Diminished motivation (HP:0000745) | +| HP:6000162 | subClassOf (rdfs:subClassOf) | Nutrition history (HP:4000123) | +| HP:0035028 | subClassOf (rdfs:subClassOf) | HP:0035019 | +| Submucous cleft of soft and hard palate (HP:0410031) | subClassOf (rdfs:subClassOf) | HP:5201016 | +| Submucous cleft of soft and hard palate (HP:0410031) | subClassOf (rdfs:subClassOf) | Cleft hard palate (HP:0410005) | +| Submucous cleft of soft and hard palate (HP:0410031) | subClassOf (rdfs:subClassOf) | Cleft soft palate (HP:0000185) | +| Abnormality of the anus (HP:0004378) | subClassOf (rdfs:subClassOf) | Abnormality of the digestive system (HP:0025031) | +| HP:0034984 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:6000150 | subClassOf (rdfs:subClassOf) | Abnormal peripheral action potential amplitude (HP:0030179) | +| HP:6000163 | subClassOf (rdfs:subClassOf) | Localized (HP:0012838) | +| HP:0034933 | subClassOf (rdfs:subClassOf) | Abnormal circulating carbohydrate concentration (HP:0011013) | +| HP:5200269 | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| HP:5200230 | subClassOf (rdfs:subClassOf) | HP:5200401 | +| HP:6000111 | subClassOf (rdfs:subClassOf) | Spatial pattern (HP:0012836) | +| HP:0040416 | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| HP:5200291 | subClassOf (rdfs:subClassOf) | HP:5200299 | +| HP:5200291 | subClassOf (rdfs:subClassOf) | HP:5200300 | +| HP:6000233 | subClassOf (rdfs:subClassOf) | Neoplasm of the pancreas (HP:0002894) | +| HP:0040409 | subClassOf (rdfs:subClassOf) | Clinical modifier (HP:0012823) | +| HP:0034992 | subClassOf (rdfs:subClassOf) | Contracture of thumb (HP:0009600) | +| HP:0034915 | subClassOf (rdfs:subClassOf) | Abnormality of digestive system morphology (HP:0025033) | +| HP:0034915 | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| HP:0020285 | subClassOf (rdfs:subClassOf) | HP:0020284 | +| HP:0034952 | subClassOf (rdfs:subClassOf) | Supratentorial neoplasm (HP:0030693) | +| HP:0020261 | subClassOf (rdfs:subClassOf) | HP:0020242 | +| Lack of response to verbal cues (HP:5200036) | subClassOf (rdfs:subClassOf) | Reduced social responsiveness (HP:5200103) | +| HP:0034865 | subClassOf (rdfs:subClassOf) | HP:0034866 | +| HP:0034965 | subClassOf (rdfs:subClassOf) | Abnormal cranial nerve morphology (HP:0001291) | +| Aggressive behavior (HP:0000718) | subClassOf (rdfs:subClassOf) | HP:5200241 | +| HP:0034826 | subClassOf (rdfs:subClassOf) | Triggered by (HP:0025204) | +| HP:5200323 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| HP:0020275 | subClassOf (rdfs:subClassOf) | HP:0020231 | +| HP:6000049 | subClassOf (rdfs:subClassOf) | Pain characteristic (HP:0025280) | +| HP:0034843 | subClassOf (rdfs:subClassOf) | Neoplasm of the ureter (HP:0100516) | +| HP:0034843 | subClassOf (rdfs:subClassOf) | Hamartoma (HP:0010566) | +| HP:5200305 | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| HP:0034889 | subClassOf (rdfs:subClassOf) | HP:0430030 | +| HP:0034889 | subClassOf (rdfs:subClassOf) | Abnormality of urine homeostasis (HP:0003110) | +| HP:6000240 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0034858 | subClassOf (rdfs:subClassOf) | Abnormal enzyme concentration or activity (HP:0034684) | +| HP:4000206 | subClassOf (rdfs:subClassOf) | HP:4000195 | +| HP:4000195 | subClassOf (rdfs:subClassOf) | Abnormal enzyme concentration or activity (HP:0034684) | +| HP:0034868 | subClassOf (rdfs:subClassOf) | HP:0034866 | +| Schizophrenia (HP:0100753) | subClassOf (rdfs:subClassOf) | HP:5200430 | +| Abnormal enzyme activity in muscle tissue (HP:0034526) | subClassOf (rdfs:subClassOf) | Abnormal enzyme concentration or activity (HP:0034684) | +| HP:5200311 | subClassOf (rdfs:subClassOf) | HP:5200212 | +| HP:6000036 | subClassOf (rdfs:subClassOf) | Abnormal telomere morphology (HP:0031412) | +| HP:0430033 | subClassOf (rdfs:subClassOf) | Macule (HP:0012733) | +| HP:0035010 | subClassOf (rdfs:subClassOf) | Exposure history (HP:4000110) | +| HP:0034976 | subClassOf (rdfs:subClassOf) | HP:0034977 | +| HP:0034872 | subClassOf (rdfs:subClassOf) | Abnormal CSF metabolite concentration (HP:0025454) | +| HP:0034950 | subClassOf (rdfs:subClassOf) | Inheritance modifier (HP:0034335) | +| HP:6000191 | subClassOf (rdfs:subClassOf) | HP:6000190 | +| HP:0430055 | subClassOf (rdfs:subClassOf) | HP:0430060 | +| Abnormal circulating selenium concentration (HP:0031903) | subClassOf (rdfs:subClassOf) | HP:0430071 | +| HP:0034837 | subClassOf (rdfs:subClassOf) | Abnormal cutaneous elastic fiber morphology (HP:0025082) | +| HP:6000194 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| Facial cleft (HP:0002006) | subClassOf (rdfs:subClassOf) | HP:5201015 | +| HP:6000205 | subClassOf (rdfs:subClassOf) | Abnormal CSF protein concentration (HP:0025456) | +| HP:0034948 | subClassOf (rdfs:subClassOf) | Uterine neoplasm (HP:0010784) | +| HP:6000078 | subClassOf (rdfs:subClassOf) | Hamartoma (HP:0010566) | +| HP:0034795 | subClassOf (rdfs:subClassOf) | Abnormal sperm morphology (HP:0012864) | +| Elevated circulating oleylcarnitine concentration (HP:0033462) | subClassOf (rdfs:subClassOf) | HP:0035020 | +| HP:6000116 | subClassOf (rdfs:subClassOf) | Abnormal urinary pyrimidine level (HP:0033162) | +| HP:0040423 | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| Delusions (HP:0000746) | subClassOf (rdfs:subClassOf) | HP:5200401 | +| Alexithymia (HP:0031433) | subClassOf (rdfs:subClassOf) | Difficulty communicating ones emotions (HP:5200122) | +| Alexithymia (HP:0031433) | subClassOf (rdfs:subClassOf) | Difficulty recognizing another's emotions (HP:5200118) | +| Transient psychotic episodes (HP:0006932) | subClassOf (rdfs:subClassOf) | HP:5200430 | +| HP:6000129 | subClassOf (rdfs:subClassOf) | Elevated urinary carboxylic acid (HP:0040156) | +| HP:6000164 | subClassOf (rdfs:subClassOf) | Pregnancy history (HP:0002686) | +| HP:0430052 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:0040414 | subClassOf (rdfs:subClassOf) | Ascites (HP:0001541) | +| HP:5200295 | subClassOf (rdfs:subClassOf) | HP:5200300 | +| Abulia (HP:0012671) | subClassOf (rdfs:subClassOf) | Apathy (HP:0000741) | +| HP:6000179 | subClassOf (rdfs:subClassOf) | Past medical history (HP:0032443) | +| HP:6000270 | subClassOf (rdfs:subClassOf) | Abnormal CSF amino acid concentration (HP:0500184) | +| HP:0430083 | subClassOf (rdfs:subClassOf) | HP:0430059 | +| HP:5200242 | subClassOf (rdfs:subClassOf) | HP:5200269 | +| HP:5200242 | subClassOf (rdfs:subClassOf) | HP:5200401 | +| HP:0034983 | subClassOf (rdfs:subClassOf) | Inflammatory abnormality of the eye (HP:0100533) | +| HP:6000178 | subClassOf (rdfs:subClassOf) | Abnormal parotid gland morphology (HP:0000197) | +| HP:6000247 | subClassOf (rdfs:subClassOf) | Abnormal esophagus morphology (HP:0002031) | +| Increased urinary hypoxanthine (HP:0011814) | subClassOf (rdfs:subClassOf) | HP:0040425 | +| HP:0034796 | subClassOf (rdfs:subClassOf) | Cardiomyocyte inclusion bodies (HP:0031334) | +| HP:6000202 | subClassOf (rdfs:subClassOf) | Abnormal cerebrospinal fluid morphology (HP:0002921) | +| HP:0034822 | subClassOf (rdfs:subClassOf) | Abnormal cerebrospinal fluid morphology (HP:0002921) | +| Confusion (HP:0001289) | subClassOf (rdfs:subClassOf) | Cognitive impairment (HP:0100543) | +| HP:5200336 | subClassOf (rdfs:subClassOf) | HP:5200332 | +| HP:0430099 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:6000196 | subClassOf (rdfs:subClassOf) | Abnormal enzyme activity in muscle tissue (HP:0034526) | +| HP:5200204 | subClassOf (rdfs:subClassOf) | HP:5200202 | +| HP:0020226 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| Paranoia (HP:0011999) | subClassOf (rdfs:subClassOf) | HP:5200242 | +| HP:0034835 | subClassOf (rdfs:subClassOf) | Abnormal myocardium morphology (HP:0001637) | +| HP:6000037 | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| HP:0020229 | subClassOf (rdfs:subClassOf) | HP:0020228 | +| HP:5200221 | subClassOf (rdfs:subClassOf) | HP:5200310 | +| HP:0034873 | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) | +| HP:0034875 | subClassOf (rdfs:subClassOf) | Decreased urinary catecholamine concentration (HP:0045012) | +| HP:0034798 | subClassOf (rdfs:subClassOf) | Hemophagocytosis (HP:0012156) | +| HP:5200208 | subClassOf (rdfs:subClassOf) | HP:5200205 | +| HP:5200234 | subClassOf (rdfs:subClassOf) | HP:5200235 | +| HP:0430047 | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| HP:0035009 | subClassOf (rdfs:subClassOf) | Shoulder contracture (HP:0034665) | +| HP:0020289 | subClassOf (rdfs:subClassOf) | HP:0020288 | +| Abnormal tongue physiology (HP:0030810) | subClassOf (rdfs:subClassOf) | Abnormal oral physiology (HP:0031815) | +| HP:0430089 | subClassOf (rdfs:subClassOf) | HP:0430060 | +| HP:6000183 | subClassOf (rdfs:subClassOf) | Abnormality of the tympanic membrane (HP:0040090) | +| HP:0430097 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:0034900 | subClassOf (rdfs:subClassOf) | HP:0034899 | +| HP:6000257 | subClassOf (rdfs:subClassOf) | Abnormal spinal cord morphology (HP:0002143) | +| HP:5200212 | subClassOf (rdfs:subClassOf) | HP:5200243 | +| HP:0034861 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:6000038 | subClassOf (rdfs:subClassOf) | Abnormal subclavian artery morphology (HP:0031251) | +| HP:5200333 | subClassOf (rdfs:subClassOf) | HP:5200332 | +| HP:5200217 | subClassOf (rdfs:subClassOf) | HP:5200216 | +| HP:0034886 | subClassOf (rdfs:subClassOf) | HP:0034885 | +| HP:0034846 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:0035031 | subClassOf (rdfs:subClassOf) | HP:0035019 | +| HP:5200359 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| HP:5200411 | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| Elevated urinary 7-biopterin level (HP:0033594) | subClassOf (rdfs:subClassOf) | HP:0040416 | +| HP:6000154 | subClassOf (rdfs:subClassOf) | Abnormality of bone marrow cell morphology (HP:0005561) | +| HP:0040418 | subClassOf (rdfs:subClassOf) | Increased urine proteinogenic amino acid derivative level (HP:0033097) | +| HP:0035018 | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| HP:0034859 | subClassOf (rdfs:subClassOf) | HP:0034858 | +| HP:0034882 | subClassOf (rdfs:subClassOf) | Abnormal prostate morphology (HP:0008775) | +| HP:6000184 | subClassOf (rdfs:subClassOf) | Spinal cord tumor (HP:0010302) | +| HP:6000106 | subClassOf (rdfs:subClassOf) | Pain (HP:0012531) | +| Small intestinal hamartoma (HP:0034793) | subClassOf (rdfs:subClassOf) | Neoplasm of the small intestine (HP:0100833) | +| Hallucinations (HP:0000738) | subClassOf (rdfs:subClassOf) | HP:5200423 | +| HP:6000265 | subClassOf (rdfs:subClassOf) | Abnormal urinary non-proteinogenic amino acid level (HP:0034027) | +| HP:0430095 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:0430071 | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| HP:0034847 | subClassOf (rdfs:subClassOf) | Maternal exposure history (HP:0034756) | +| HP:5200304 | subClassOf (rdfs:subClassOf) | HP:5200298 | +| Impaired social interactions (HP:0000735) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| HP:5200240 | subClassOf (rdfs:subClassOf) | Receptive language delay (HP:0010863) | +| HP:6000142 | subClassOf (rdfs:subClassOf) | Abnormal large intestine morphology (HP:0002250) | +| Agnosia (HP:0010524) | subClassOf (rdfs:subClassOf) | HP:5200204 | +| HP:6000132 | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| HP:0020294 | subClassOf (rdfs:subClassOf) | HP:0020287 | +| HP:0034828 | subClassOf (rdfs:subClassOf) | Abnormal muscle tissue enzyme activity or level (HP:0034510) | +| HP:5200288 | subClassOf (rdfs:subClassOf) | Abnormal consumption behavior (HP:0040202) | +| HP:5200288 | subClassOf (rdfs:subClassOf) | Non-rapid eye movement parasomnia (HP:0025235) | +| HP:0430102 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:5200263 | subClassOf (rdfs:subClassOf) | HP:5200275 | +| HP:0430096 | subClassOf (rdfs:subClassOf) | HP:0430091 | +| HP:0034839 | subClassOf (rdfs:subClassOf) | Abnormality of bone marrow cell morphology (HP:0005561) | + +
+ +
+Relationships added: 214 + +| Subject | Predicate | Object | +----|----|----| +| Reduced urinary inosine level (HP:0033159) | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| Anal atresia (HP:0002023) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Abnormal sperm motility (HP:0012206) | subClassOf (rdfs:subClassOf) | Functional abnormality of male internal genitalia (HP:0000025) | +| Avoids emotional intimacy (HP:5200111) | subClassOf (rdfs:subClassOf) | Abnormal relationship (HP:5200024) | +| Avoids emotional intimacy (HP:5200111) | subClassOf (rdfs:subClassOf) | Abnormal interest in others (HP:5200020) | +| Sleep apnea (HP:0010535) | subClassOf (rdfs:subClassOf) | Apnea (HP:0002104) | +| Sleep apnea (HP:0010535) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Anti-thyroglobulin antibody positivity (HP:0032069) | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| Abnormality of the radioulnar joints (HP:0003059) | subClassOf (rdfs:subClassOf) | Abnormality of the synovia (HP:0005262) | +| Elevated circulating isovalerylcarnitine concentration (HP:0033447) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Anal fissure (HP:0012390) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Positive fecal Clostridium botulinum test (HP:0034476) | subClassOf (rdfs:subClassOf) | Abnormal stool composition (HP:0031685) | +| Intrusion symptom (HP:0032936) | subClassOf (rdfs:subClassOf) | Posttraumatic stress symptom (HP:0033676) | +| Abnormal circulating creatine concentration (HP:0012113) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Abnormality of speech or vocalization (HP:0002167) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| Elevated circulating glutarylcarnitine concentration (HP:0033442) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Decreased phytanoyl-CoA hydroxylase activity (HP:4000163) | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Abnormal thyroid-stimulating hormone level (HP:0031097) | subClassOf (rdfs:subClassOf) | Abnormality of the pituitary gland (HP:0012503) | +| Abnormal circulating collagen degradation product concentration (HP:0033386) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Decreased urinary guanosine level (HP:0033160) | subClassOf (rdfs:subClassOf) | Abnormal urinary purine level (HP:0033161) | +| Postaxial oligodactyly (HP:0006210) | subClassOf (rdfs:subClassOf) | Hand oligodactyly (HP:0001180) | +| Finger joint hypermobility (HP:0006094) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Anal stenosis (HP:0002025) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Violent behavior (HP:0008760) | subClassOf (rdfs:subClassOf) | Abnormal aggressive, impulsive or violent behavior (HP:0006919) | +| Selective mutism (HP:5200001) | subClassOf (rdfs:subClassOf) | Abnormal communication (HP:0034434) | +| Shortened sleep cycle (HP:0033063) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Abnormal circulating organic amino compound concentration (HP:0033405) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Abnormal consumption behavior (HP:0040202) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Choroid plexus calcification (HP:0006960) | subClassOf (rdfs:subClassOf) | Cerebral calcification (HP:0002514) | +| Shyness (HP:0100962) | subClassOf (rdfs:subClassOf) | Abnormal social behavior (HP:0012433) | +| Somatic mosaicism (HP:0001442) | subClassOf (rdfs:subClassOf) | Mode of inheritance (HP:0000005) | +| Tactile hallucination (HP:0033694) | subClassOf (rdfs:subClassOf) | Hallucinations (HP:0000738) | +| Elevated circulating 3-hydroxylinoleylcarnitine concentration (HP:0033461) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Recurrent aphthous stomatitis (HP:0011107) | subClassOf (rdfs:subClassOf) | Aphthous ulcer (HP:0032154) | +| Inappropriate sexual behavior (HP:0008768) | subClassOf (rdfs:subClassOf) | Inappropriate behavior (HP:0000719) | +| Sleep paralysis (HP:0025233) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Anal canal neoplasm (HP:0030437) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Abnormal hip joint morphology (HP:0001384) | subClassOf (rdfs:subClassOf) | Abnormality of the synovia (HP:0005262) | +| Abnormal circulating nitrogen compound concentration (HP:0004364) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Conspicuously happy disposition (HP:0100024) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Kinesiophobia (HP:4000009) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Alcoholism (HP:0030955) | subClassOf (rdfs:subClassOf) | Addictive behavior (HP:0030858) | +| Restricted or repetitive behaviors or interests (HP:0031432) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Restrictive behavior (HP:0000723) | subClassOf (rdfs:subClassOf) | Autistic behavior (HP:0000729) | +| Abnormal hepatic iron concentration (HP:0040134) | subClassOf (rdfs:subClassOf) | Abnormal liver morphology (HP:0410042) | +| Abnormal hepatic iron concentration (HP:0040134) | subClassOf (rdfs:subClassOf) | Abnormal tissue metabolite concentration (HP:0032243) | +| Aphthous ulcer (HP:0032154) | subClassOf (rdfs:subClassOf) | Abnormal oral mucosa morphology (HP:0011830) | +| Reduced social insight (HP:5200021) | subClassOf (rdfs:subClassOf) | Abnormal social behavior (HP:0012433) | +| Perianal abscess (HP:0009789) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Optic ataxia (HP:0031868) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| Oppositional defiant disorder (HP:0010865) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Abnormal erythrocyte enzyme level (HP:0030272) | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Abnormality of the tongue (HP:0000157) | subClassOf (rdfs:subClassOf) | Abnormal oral cavity morphology (HP:0000163) | +| Abnormal circulating carbohydrate concentration (HP:0011013) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Elevated circulating propionylcarnitine concentration (HP:0033443) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Bipolar affective disorder (HP:0007302) | subClassOf (rdfs:subClassOf) | Mania (HP:0100754) | +| Bipolar affective disorder (HP:0007302) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Elevated dermal desmosine content (HP:0025083) | subClassOf (rdfs:subClassOf) | Abnormality of skin morphology (HP:0011121) | +| Echolalia (HP:0010529) | subClassOf (rdfs:subClassOf) | Abnormal language feature (HP:4000072) | +| Pituitary calcification (HP:0010513) | subClassOf (rdfs:subClassOf) | Cerebral calcification (HP:0002514) | +| Inappropriate crying (HP:0030215) | subClassOf (rdfs:subClassOf) | Inappropriate behavior (HP:0000719) | +| Loose association (HP:5200006) | subClassOf (rdfs:subClassOf) | Abnormal language feature (HP:4000072) | +| Personality changes (HP:0000751) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Elevated red cell adenosine deaminase level (HP:0030270) | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| Malabsorption (HP:0002024) | subClassOf (rdfs:subClassOf) | Abnormal intestine morphology (HP:0002242) | +| Sleep disturbance (HP:0002360) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Separation insecurity (HP:0031468) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189) | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| Copper accumulation in liver (HP:0025321) | subClassOf (rdfs:subClassOf) | Abnormal tissue metabolite concentration (HP:0032243) | +| Hyperextensibility at elbow (HP:0010485) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Unilateral oligodactyly (HP:0006230) | subClassOf (rdfs:subClassOf) | Hand oligodactyly (HP:0001180) | +| Anxiety (HP:0000739) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Abnormal glial cell morphology (HP:0100705) | subClassOf (rdfs:subClassOf) | Morphological central nervous system abnormality (HP:0002011) | +| Inappropriate laughter (HP:0000748) | subClassOf (rdfs:subClassOf) | Abnormal response to social norms (HP:5200123) | +| Glue ear (HP:0040262) | subClassOf (rdfs:subClassOf) | Abnormality of the middle ear (HP:0000370) | +| Hostility (HP:0031473) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Abnormal temper tantrums (HP:0025160) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Reduced response to another's attempt to get direct attention (HP:5200004) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| Reduced social smiling (HP:5200102) | subClassOf (rdfs:subClassOf) | Reduced frequency of facial expressions (HP:4000075) | +| Reduced social smiling (HP:5200102) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| Reduced awareness of convention (HP:5200022) | subClassOf (rdfs:subClassOf) | Abnormal response to social norms (HP:5200123) | +| Hydrophobia (HP:0032505) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Abnormal circulating coenzyme concentration (HP:0034616) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Abnormal circulating acetylcarnitine concentration (HP:0012071) | subClassOf (rdfs:subClassOf) | Abnormal circulating carnitine concentration (HP:0010967) | +| Agoraphobia (HP:0000756) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Generalized joint laxity (HP:0002761) | subClassOf (rdfs:subClassOf) | Joint laxity (HP:0001388) | +| Happy demeanor (HP:0040082) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Elevated circulating 3-hydroxypalmitoleylcarnitine concentration (HP:0033464) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Abnormal circulating lipid concentration (HP:0003119) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Elevated circulating octenoylcarnitine concentration (HP:0033440) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Anal fistula (HP:0010447) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Negativism (HP:0410291) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Reduced red cell adenosine deaminase level (HP:0030273) | subClassOf (rdfs:subClassOf) | Abnormal erythrocyte enzyme level (HP:0030272) | +| Unhappy demeanor (HP:0031588) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Decreased alpha-mannosidase activity (HP:0034712) | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Abnormal communication (HP:0034434) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Dissociative reaction (HP:0032940) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Abnormal circulating carboxylic acid concentration (HP:0004354) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Reduced attention regulation (HP:5200044) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Ventricular couplet (HP:0034039) | subClassOf (rdfs:subClassOf) | Ventricular ectopy (HP:0034041) | +| Abnormal circulating porphyrin concentration (HP:0010472) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| No social interaction (HP:0008763) | subClassOf (rdfs:subClassOf) | Impaired social interactions (HP:0000735) | +| Immotile sperm (HP:0012208) | subClassOf (rdfs:subClassOf) | Abnormal sperm motility (HP:0012206) | +| Compulsive behaviors (HP:0000722) | subClassOf (rdfs:subClassOf) | Restricted or repetitive behaviors or interests (HP:0031432) | +| Vivid hallucinations (HP:0006803) | subClassOf (rdfs:subClassOf) | Hallucinations (HP:0000738) | +| Suicidal ideation (HP:0031589) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Anti-thyroid peroxidase antibody positivity (HP:0025379) | subClassOf (rdfs:subClassOf) | Autoimmune antibody positivity (HP:0030057) | +| Cleft lip (HP:0410030) | subClassOf (rdfs:subClassOf) | Orofacial cleft (HP:0000202) | +| Reduced epidermal keratin 10 protein expression (HP:0034574) | subClassOf (rdfs:subClassOf) | Abnormal epidermal protein expression (HP:0034573) | +| Central diabetes insipidus (HP:0000863) | subClassOf (rdfs:subClassOf) | Abnormality of the posterior pituitary (HP:0011751) | +| Cerebral calcification (HP:0002514) | subClassOf (rdfs:subClassOf) | Ectopic calcification (HP:0010766) | +| Knee joint hypermobility (HP:0045086) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Abnormal emotion/affect behavior (HP:0100851) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Narcolepsy (HP:0030050) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Abnormality of the seventh cranial nerve (HP:0010827) | subClassOf (rdfs:subClassOf) | Abnormal cranial nerve morphology (HP:0001291) | +| Elevated circulating palmitoleylcarnitine concentration (HP:0031544) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Elevated urinary uromodulin (HP:0020150) | subClassOf (rdfs:subClassOf) | Abnormal urine protein level (HP:0020129) | +| Astereognosia (HP:0010527) | subClassOf (rdfs:subClassOf) | Abnormal central sensory function (HP:0011730) | +| Astereognosia (HP:0010527) | subClassOf (rdfs:subClassOf) | Agnosia (HP:0010524) | +| Elevated circulating palmitoylcarnitine concentration (HP:0033382) | subClassOf (rdfs:subClassOf) | Abnormal circulating acetylcarnitine concentration (HP:0012071) | +| Low self esteem (HP:0031469) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Elevated circulating dodecanoylcarnitine concentration (HP:0033444) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Elevated circulating linoleylcarnitine concentration (HP:0033484) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Hand monodactyly (HP:0004058) | subClassOf (rdfs:subClassOf) | Hand oligodactyly (HP:0001180) | +| Submucous cleft hard palate (HP:0000176) | subClassOf (rdfs:subClassOf) | Submucous cleft of soft and hard palate (HP:0410031) | +| Claustrophobia (HP:0025253) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Restlessness (HP:0000711) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Anhedonia (HP:0012154) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Anal mucosal leukoplakia (HP:0005212) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Oocyte arrest at metaphase I (HP:0031516) | subClassOf (rdfs:subClassOf) | Abnormal female meiosis (HP:0033338) | +| Avoidance of stimuli associated with traumatic event (HP:0032942) | subClassOf (rdfs:subClassOf) | Posttraumatic stress symptom (HP:0033676) | +| Depression (HP:0000716) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Reduced attempt to get or direct another's attention (HP:5200027) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| Lethargy (HP:0001254) | subClassOf (rdfs:subClassOf) | Reduced consciousness/confusion (HP:0004372) | +| Snoring (HP:0025267) | subClassOf (rdfs:subClassOf) | Abnormal pattern of respiration (HP:0002793) | +| Snoring (HP:0025267) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Submucous cleft lip (HP:0009101) | subClassOf (rdfs:subClassOf) | Cleft upper lip (HP:0000204) | +| Recurrent bronchitis (HP:0002837) | subClassOf (rdfs:subClassOf) | Recurrent upper respiratory tract infections (HP:0002788) | +| Elevated 7-dehydrocholesterol (HP:0010569) | subClassOf (rdfs:subClassOf) | Abnormal circulating cholesterol concentration (HP:0003107) | +| Benzodiazepine addiction (HP:0033516) | subClassOf (rdfs:subClassOf) | Drug addiction (HP:0033511) | +| Episodic hypersomnia (HP:0007200) | subClassOf (rdfs:subClassOf) | Reduced consciousness/confusion (HP:0004372) | +| Palilalia (HP:0031814) | subClassOf (rdfs:subClassOf) | Abnormal language feature (HP:4000072) | +| Lisch nodules (HP:0009737) | subClassOf (rdfs:subClassOf) | Abnormality iris morphology (HP:0000525) | +| Oral ulcer (HP:0000155) | subClassOf (rdfs:subClassOf) | Abnormal oral mucosa morphology (HP:0011830) | +| Stiff interphalangeal joints (HP:0005198) | subClassOf (rdfs:subClassOf) | Abnormality of the synovia (HP:0005262) | +| Self-injurious behavior (HP:0100716) | subClassOf (rdfs:subClassOf) | Abnormal aggressive, impulsive or violent behavior (HP:0006919) | +| Meningeal calcification (HP:0100250) | subClassOf (rdfs:subClassOf) | Cerebral calcification (HP:0002514) | +| Arrhinencephaly (HP:0002139) | subClassOf (rdfs:subClassOf) | Anencephaly (HP:0002323) | +| Distal joint laxity (HP:0020152) | subClassOf (rdfs:subClassOf) | Joint laxity (HP:0001388) | +| Cleft lower alveolar ridge (HP:0009094) | subClassOf (rdfs:subClassOf) | Cleft maxillary alveolar ridge (HP:0010289) | +| Neoplasm of the gastrointestinal tract (HP:0007378) | subClassOf (rdfs:subClassOf) | Neoplasm by anatomical site (HP:0011793) | +| Bimanual synkinesia (HP:0001335) | subClassOf (rdfs:subClassOf) | Abnormality of movement (HP:0100022) | +| Otitis media (HP:0000388) | subClassOf (rdfs:subClassOf) | Abnormality of the middle ear (HP:0000370) | +| Elevated circulating decenoylcarnitine concentration (HP:0033439) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Hypermobility of interphalangeal joints (HP:0005620) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Panic attack (HP:0025269) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Elevated circulating tetradecanoylcarnitine concentration (HP:0033465) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Mutism (HP:0002300) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Insistence on sameness (HP:5200130) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Elevated circulating hexanoylcarnitine concentration (HP:0033441) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Hip joint hypermobility (HP:0045087) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Psychotic episodes (HP:0000725) | subClassOf (rdfs:subClassOf) | Psychosis (HP:0000709) | +| Tearfulness (HP:0033705) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Diminished motivation (HP:0000745) | subClassOf (rdfs:subClassOf) | Abnormal emotion/affect behavior (HP:0100851) | +| Mania (HP:0100754) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Ignores peers (HP:4000083) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity with peers (HP:5200136) | +| Ignores peers (HP:4000083) | subClassOf (rdfs:subClassOf) | Reduced response to another's attempt to get direct attention (HP:5200004) | +| Elevated calcitonin (HP:0003528) | subClassOf (rdfs:subClassOf) | Abnormal calcium-phosphate regulating hormone level (HP:0100530) | +| Psychotic mentation (HP:0001345) | subClassOf (rdfs:subClassOf) | Psychosis (HP:0000709) | +| Sense of impending doom (HP:0033845) | subClassOf (rdfs:subClassOf) | Abnormal fear/anxiety-related behavior (HP:0100852) | +| Psychosis (HP:0000709) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Perianal dermatitis (HP:0011131) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Bloodstream infectious agent (HP:0031863) | subClassOf (rdfs:subClassOf) | Abnormality of metabolism/homeostasis (HP:0001939) | +| Inappropriate behavior (HP:0000719) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Manifestations of perseverative thought or action (HP:0030223) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Hyperactivity (HP:0000752) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Anal margin neoplasm (HP:0030440) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Abnormal circulating amino sulfonic acid concentration (HP:0500180) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Confusional arousal (HP:0025237) | subClassOf (rdfs:subClassOf) | Non-rapid eye movement parasomnia (HP:0025235) | +| Ectopic anus (HP:0004397) | subClassOf (rdfs:subClassOf) | Abnormality of the anus (HP:0004378) | +| Restless legs (HP:0012452) | subClassOf (rdfs:subClassOf) | Sleep disturbance (HP:0002360) | +| Negative affectivity (HP:0031467) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Posttraumatic stress symptom (HP:0033676) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Elevated circulating stearoylcarnitine concentration (HP:0033381) | subClassOf (rdfs:subClassOf) | Abnormal circulating acetylcarnitine concentration (HP:0012071) | +| Hyperextensibility at wrists (HP:0005072) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Elevated circulating butyrylcarnitine concentration (HP:0033446) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Lack of insight (HP:0000757) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Hyperextensible hand joints (HP:0005639) | subClassOf (rdfs:subClassOf) | Joint hypermobility (HP:0001382) | +| Disinhibition (HP:0000734) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Addictive behavior (HP:0030858) | subClassOf (rdfs:subClassOf) | Reduced impulse control (HP:5200045) | +| Abnormal fear/anxiety-related behavior (HP:0100852) | subClassOf (rdfs:subClassOf) | Impairment in personality functioning (HP:0031466) | +| Apraxia (HP:0002186) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | +| Self-neglect (HP:0025479) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Submucous cleft of soft and hard palate (HP:0410031) | subClassOf (rdfs:subClassOf) | Cleft palate (HP:0000175) | +| Abnormality of the anus (HP:0004378) | subClassOf (rdfs:subClassOf) | Anorectal anomaly (HP:0012732) | +| Lack of response to verbal cues (HP:5200036) | subClassOf (rdfs:subClassOf) | Reduced social reciprocity (HP:0012760) | +| Aggressive behavior (HP:0000718) | subClassOf (rdfs:subClassOf) | Abnormal aggressive, impulsive or violent behavior (HP:0006919) | +| Schizophrenia (HP:0100753) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Abnormal enzyme activity in muscle tissue (HP:0034526) | subClassOf (rdfs:subClassOf) | Abnormal circulating enzyme concentration or activity (HP:0012379) | +| Abnormal circulating selenium concentration (HP:0031903) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) | +| Elevated circulating oleylcarnitine concentration (HP:0033462) | subClassOf (rdfs:subClassOf) | Elevated circulating acylcarnitine concentration (HP:0045045) | +| Delusions (HP:0000746) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Alexithymia (HP:0031433) | subClassOf (rdfs:subClassOf) | Autistic behavior (HP:0000729) | +| Transient psychotic episodes (HP:0006932) | subClassOf (rdfs:subClassOf) | Psychotic episodes (HP:0000725) | +| Abulia (HP:0012671) | subClassOf (rdfs:subClassOf) | Diminished motivation (HP:0000745) | +| Increased urinary hypoxanthine (HP:0011814) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| Confusion (HP:0001289) | subClassOf (rdfs:subClassOf) | Reduced consciousness/confusion (HP:0004372) | +| Acral ulceration (HP:0006121) | subClassOf (rdfs:subClassOf) | Autoamputation of digits (HP:0007460) | +| Paranoia (HP:0011999) | subClassOf (rdfs:subClassOf) | Delusions (HP:0000746) | +| Elevated urinary 7-biopterin level (HP:0033594) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) | +| Hallucinations (HP:0000738) | subClassOf (rdfs:subClassOf) | Atypical behavior (HP:0000708) | +| Impaired social interactions (HP:0000735) | subClassOf (rdfs:subClassOf) | Autistic behavior (HP:0000729) | +| Impaired social interactions (HP:0000735) | subClassOf (rdfs:subClassOf) | Abnormal social behavior (HP:0012433) | +| Agnosia (HP:0010524) | subClassOf (rdfs:subClassOf) | Abnormality of higher mental function (HP:0011446) | + +
+ diff --git a/src/ontology/reports/difference_release_base.txt b/src/ontology/reports/difference_release_base.txt new file mode 100644 index 000000000..2f0914325 --- /dev/null +++ b/src/ontology/reports/difference_release_base.txt @@ -0,0 +1,2246 @@ +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create None +create 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None +create None +create None +obsolete HP:0010962 with replacement HP:0006544 +change definition of HP:0032649 from A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. to A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus. +change definition of HP:0034707 from Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages either in a lymph node. to Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node. +add definition Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days. to HP:0100786 +rename HP:0040107 from 'Morphological abnormality of the posterior semicircular canal' to 'Abnormal posterior semicircular canal morphology' +change definition of HP:0025247 from A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm. to A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. +change definition of HP:0031588 from A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. to A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events. +change definition of HP:0033114 from A type of gallop rhytm in which both the third and the fourth sounds are present. to A type of gallop rhythm in which both the third and the fourth sounds are present. +change definition of HP:0000202 from The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. to The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. +change definition of HP:0033439 from Increased concentration of decenoylcarnitine in the blood circulation. to Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal. +change definition of HP:0032641 from Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. to Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. +change definition of HP:0034652 from Amount of octenedioic acid in the urine above the upper limit of normal. to The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +add definition Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. to HP:0007302 +change definition of HP:0032237 from An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. to The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1. +change definition of HP:0000758 from Abnormalities in eye contact, communicative facial expressions, gesture use, or use of other's body to communicate. These convey a shared meaning within a culture that replace or supplement verbal communication. to Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. +change definition of HP:0032505 from Pharyngeal spasms provoked by an attempt to drink. to The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning. +rename HP:0011446 from 'Abnormality of higher mental function' to 'Abnormality of mental function' +change definition of HP:0011446 from Cognitive, psychiatric or memory anomaly. to Cognitive, psychiatric, or memory anomaly. +change definition of HP:0032227 from A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. to A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. +change definition of HP:0031844 from A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. to Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation. +change definition of HP:5201006 from Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate. to Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula. +rename HP:0033514 from 'Amphetamine addiction' to 'Addictive amphetamine use' +change definition of HP:0033514 from Addiction to amphetamine or dextroamphetamine. to Addiction to amphetamine or dextroamphetamine is a serious concern. +change definition of HP:0034732 from Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. to Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. +change definition of HP:0000712 from Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. to Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. +change definition of HP:0033006 from Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. to Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation. +change definition of HP:0000752 from Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. to Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. +change definition of HP:0032538 from A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. to A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. +change definition of HP:0001218 from Spontaneous detachment (amputation) of an appendage from the body. to Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. +change definition of HP:0033446 from Increased concentration of O-butyrylcarnitine in the blood circulation. to Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal. +rename HP:5200126 from 'Aggression toward cargivers' to 'Aggression towards caregivers' +add definition Aggression that is directed towards caregivers. to HP:5200126 +rename HP:0001442 from 'Somatic mosaicism' to 'Typified by somatic mosaicism' +change definition of HP:0001442 from The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. to Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. +change definition of HP:0000744 from The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. to The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors. +change definition of HP:0012075 from An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. to A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society. +add definition Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. to HP:0000742 +change definition of HP:0410056 from A decrease in the level of erythritol in the cerebrospinal fluid. to Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. +change definition of HP:0031602 from An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating. to An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. +rename HP:0011976 from 'Elevated urinary catecholamines' to 'Elevated urinary catecholamine level' +change definition of HP:0011976 from An increased concentration of catecholamine in the urine. to The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0025484 from 'Increased circulating thyroglobulin level' to 'Increased circulating thyroglobulin concentration' +rename HP:0001426 from 'Multifactorial inheritance' to 'Non-Mendelian inheritance' +change definition of HP:0001426 from A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. to A mode of inheritance that depends on genetic determinants in more than one gene. +rename HP:0100530 from 'Abnormal calcium-phosphate regulating hormone level' to 'Abnormal circulating calcium-phosphate regulating hormone concentration' +change definition of HP:0033437 from Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. to The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal. +change definition of HP:0033173 from Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. to Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. +rename HP:0010524 from 'Agnosia' to 'Disturbed sensory perception' +change definition of HP:0010524 from Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. to Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences. +change definition of HP:0020189 from Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. to Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. +change definition of HP:0034574 from Lower than normal amount of keratin 10 in the epidermis. to Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. +change definition of HP:0000713 from A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. to A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension. +change definition of HP:4000144 from History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition. to History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition. +rename HP:0002991 from 'Abnormality of fibula morphology' to 'Abnormal fibula morphology' +change definition of HP:4000058 from A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. \nPMID: 19634399 to A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. +change definition of HP:0410280 from Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. to Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. +change definition of HP:0033822 from A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter\n(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. to A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. +rename HP:0011278 from 'Intrapulmonary sequestration' to 'Intrapulmonary lobar sequestration' +rename HP:4000151 from 'History of recent cotralateral injury' to 'History of recent contralateral injury' +change definition of HP:0100753 from A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. to A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. +rename HP:0031469 from 'Low self esteem' to 'Low self-esteem' +change definition of HP:0031469 from Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. to Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself. +change definition of HP:0100754 from A state of abnormally elevated or irritable mood, arousal, and or energy levels. to A state of abnormally elevated or irritable mood, arousal, and/or energy levels. +change definition of HP:0040202 from Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual. to Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual. +change definition of HP:0410350 from An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. to An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine. +rename HP:0010569 from 'Elevated 7-dehydrocholesterol' to 'Elevated circulating 7-dehydrocholesterol concentration' +change definition of HP:0010569 from Elevated 7-dehydrocholesterol levels. to Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal. +change definition of HP:0030974 from A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). to A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. +rename HP:0030270 from 'Elevated red cell adenosine deaminase level' to 'Elevated red cell adenosine deaminase activity' +rename HP:0030935 from 'Abnormality of intestinal smooth muscle morphology' to 'Abnormal intestinal smooth muscle morphology' +change definition of HP:0032764 from A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. to A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. +change definition of HP:0033363 from Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant\nplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. to Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. +change definition of HP:0001382 from The ability of a joint to move beyond its normal range of motion. to The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. +change definition of HP:0000722 from Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal to Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal. +change definition of HP:0031908 from Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. to Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task. +change definition of HP:0006979 from Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. to Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. +rename HP:0040323 from 'Erythema of the eyelids' to 'Eyelid erythema' +add definition Uncontrolled movements result in tissue damage to the tongue and lips. to HP:0008767 +rename HP:0002519 from 'Hypnagogic hallucinations' to 'Hypnagogic hallucination' +change definition of HP:0002519 from Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. to Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep. +rename HP:0000045 from 'Abnormality of the scrotum' to 'Abnormal scrotum morphology' +add definition Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord. to HP:0000045 +change definition of HP:0033917 from Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. to Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. +rename HP:0006500 from 'Abnormality of lower limb epiphysis morphology' to 'Abnormal lower limb epiphysis morphology' +change definition of HP:0100024 from An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. to An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger. +rename HP:0100506 from 'Low levels of vitamin B8' to 'Decreased circulating vitamin B8 concentration' +change definition of HP:0100506 from A reduced concentration of vitamin B8. to The concentration of vitamin B8 in the blood circulation is below the lower limit of normal. +change definition of HP:0032044 from A reduction in the ability to maintain sustained attention characterized by reduced alertness. to A decrease in the ability to maintain sustained attention is characterized by reduced alertness. +add definition Lack of intentional participation in interactions with another person. to HP:0008763 +change definition of HP:0033464 from Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. to Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0410075 from 'Increased level of xylitol in CSF' to 'Increased CSF xylitol concentration' +change definition of HP:0410075 from An increase in the level of xylitol in the cerebrospinal fluid. to The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. +add definition Coma induced by low blood sugar. to HP:0001325 +change definition of HP:0030050 from An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. to An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis. +rename HP:0008376 from 'Nasal, dysarthic speech' to 'Nasal dysarthria' +change definition of HP:5200021 from A lack of awareness or failure to apply social rules in multiple social settings which are simple or intuitive to others in the same social setting. to A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting. +change definition of HP:0034655 from Amount of glutaconic acid in the urine above the upper limit of normal. to The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0002494 from Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. to Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements. +add definition Changes in one's level of awareness and responsiveness to their environment. to HP:0007159 +rename HP:0011391 from 'Morphological abnormality of the nerves of the inner ear' to 'Abnormal inner ear nerve morphology' +rename HP:0040109 from 'Morphological abnormality of the utricle' to 'Abnormal utricle morphology' +rename HP:0011138 from 'Abnormality of skin adnexa morphology' to 'Abnormal skin adnexa morphology' +change definition of HP:0000740 from Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. to Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable. +change definition of HP:0033627 from Increased amount of harderoporphyrin in the urine. to Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0045045 from An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. to Concentration of acylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0020150 from 'Elevated urinary uromodulin' to 'Elevated urinary uromodulin level' +change definition of HP:0020150 from An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. to The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0032836 from Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. to Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically. +change definition of HP:0010982 from A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. to A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. +change definition of HP:5200044 from Abnormality in one's ability to control their attention toward a specific subject or task. This could include the inability to change attention or hold attention. to An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. +rename HP:0009380 from 'Aplasia of the fingers' to 'Finger aplasia' +change definition of HP:0009380 from Aplasia of one or more fingers. to A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). +change definition of HP:0000027 from Absence of any measurable level of sperm in his semen. to Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. +rename HP:0034726 from 'Elevated beta-mannosidase activity' to 'Elevated circulating beta-mannosidase activity' +rename HP:0003223 from 'Decreased methylcobalamin' to 'Decreased circulating methylcobalamin concentration' +change definition of HP:0003223 from Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. to The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. +add definition The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. to HP:0007460 +add definition A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. to HP:0100814 +delete edge HP:0100814 oio:hasDbXref SNOMEDCT_US:40467008 +delete edge HP:0100814 oio:hasDbXref MSH:D049328 +delete edge HP:0100814 oio:hasDbXref UMLS:C4020699 +delete edge HP:0100814 oio:hasDbXref UMLS:C0265985 +rename HP:0034712 from 'Decreased alpha-mannosidase activity' to 'Decreased circulating alpha-mannosidase activity' +change definition of HP:0034712 from Activity of the enzyme alpha-mannosidase below the lower limit of normal. to Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation. +rename HP:4000163 from 'Decreased phytanoyl-CoA hydroxylase activity' to 'Reduced phytanic acid oxidase activity in cultured fibroblasts' +change definition of HP:4000163 from Reduced activity of the enzyme phytanoyl-CoA hydroxylase, which plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. to Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. +change definition of HP:0034589 from Increased circulating concentration of dehydroepiandrosterone-sulfate, a precursor of testosterone and estrogen. to Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. +change definition of HP:0032239 from An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. to The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2. +change definition of HP:0000756 from A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. to A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather. +rename HP:4000127 from 'Aggravated by sodium channel blocking agents' to 'Exacerbated by sodium channel blocking agent exposure' +change definition of HP:0001868 from Spontaneous detachment of a foot from the body. to The spontaneous detachment of a foot from the body due to long standing pathology. +rename HP:0040110 from 'Morphological abnormality of the saccule' to 'Abnormal saccule morphology' +rename HP:0410071 from 'Increased level of ribitol in CSF' to 'Increased CSF ribitol concentration' +change definition of HP:0410071 from An increase in the level of ribitol in the cerebral spinal fluid. to The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. +rename HP:0012503 from 'Abnormality of the pituitary gland' to 'Abnormal pituitary gland morphology' +change definition of HP:0001259 from Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. to The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. +rename HP:0032477 from 'Elevated circulating vitamin B6 level' to 'Elevated circulating vitamin B6 concentration' +rename HP:0000161 from 'Median cleft lip' to 'Median cleft upper lip' +rename HP:0009600 from 'Contracture of thumb' to 'Thumb contracture' +change definition of HP:0033706 from This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in\nthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. to This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. +rename HP:0033515 from 'Opioid addiction' to 'Addictive opioid use' +rename HP:0031040 from 'Late spermatogenesis maturation arrest' to 'Round spermatid arrest' +change definition of HP:0031040 from A type of maturation arrest in which spermatids are detected without spermatozoa. to A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. +rename HP:0002367 from 'Visual hallucinations' to 'Visual hallucination' +change definition of HP:0002367 from Visual perceptions that are not elicited by a corresponding stimulus from the outside world. to Visual perception in the absence of a visual stimulus. +change definition of HP:0032938 from Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. to Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events. +change definition of HP:0012452 from A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). to Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia. +change definition of HP:0009804 from The absence of one or more teeth from the normal series by a failure\nto develop to The absence of one or more teeth from the normal series by a failure to develop +change definition of HP:0034290 from An increased concentration of tiglylglycine in the blood circulation. to Concentration of tiglylglycine in the blood circulation above the upper limit of normal. +rename HP:0033513 from 'Cocaine addiction' to 'Addictive cocaine use' +change definition of HP:0000677 from The absence of six or more teeth from the normal series by a failure\nto develop. to The absence of six or more teeth from the normal series by a failure to develop. +rename HP:0032514 from 'Duplicated lacrimal punctum' to 'Supernumerary lacrimal punctum' +change definition of HP:0032514 from A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. to A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. +rename HP:0032937 from 'Recurrent, involuntary and intrusive distressing memories' to 'Recurrent, involuntary, and intrusive distressing memories' +change definition of HP:0032937 from After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. to After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory. +change definition of HP:0031467 from A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. to A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. +change definition of HP:4000166 from Infection with live, attenuated varicella-zoster virus following vaccination. This is an extreemely rare event that may indicate immunocompromise. to Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise. +rename HP:0002823 from 'Abnormality of femur morphology' to 'Abnormal femur morphology' +rename HP:0032502 from 'Exacerbated by barbiturate medication' to 'Exacerbated by barbiturate exposure' +rename HP:0006803 from 'Vivid hallucinations' to 'Vivid hallucination' +add definition Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment. to HP:0006803 +change definition of HP:0032980 from Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. to Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region. +rename HP:0002920 from 'Decreased circulating ACTH level' to 'Decreased circulating ACTH concentration' +change definition of HP:0002920 from An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. to The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. +change definition of HP:0003150 from An increased concentration of glutaric acid in the urine. to The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0030222 from Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. to The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory. +change definition of HP:0032834 from Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. to Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body. +rename HP:0100852 from 'Abnormal fear/anxiety-related behavior' to 'Abnormal fear-induced behavior' +change definition of HP:0100852 from An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. to An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations. +rename HP:0005561 from 'Abnormality of bone marrow cell morphology' to 'Abnormal bone marrow cell morphology' +change definition of HP:0032832 from Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. to Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically. +change definition of HP:0003117 from An abnormal concentration of a hormone in the blood. to Concentration of a hormone in the blood circulation outside of normal limits. +change definition of HP:0025236 from Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. to Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated. +change definition of HP:0100311 from Bands of scar-like tisssue that hve formed within a cerebral ventricle. to Bands of scar-like tissue that hve formed within a cerebral ventricle. +change definition of HP:0032989 from Delayed ahcievement of the ability to roll front to back and back to front. to Delayed achievement of the ability to roll front to back and back to front. +change definition of HP:0031042 from Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. to Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. +change definition of HP:0025161 from Temper tantrums that occur more frequently than usual. to Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process. +change definition of HP:0000735 from Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. to Difficulty interacting with others through emotional, physical, or verbal communication. +change definition of HP:0030083 from An excessive desire to eat salt (sodium chloride) or salty foods. to Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. +rename HP:0034335 from 'Inheritance modifier' to 'Inheritance qualifier' +rename HP:0012071 from 'Abnormal circulating acetylcarnitine concentration' to 'Abnormal circulating acylcarnitine concentration' +change definition of HP:0012071 from Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. to Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. +change definition of HP:0025372 from Particularly loud snoring, snoring at high volume. to Snoring at a particularly loud or abnormally high volume. +change definition of HP:0020188 from Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. to Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. +rename HP:0006477 from 'Abnormality of the alveolar ridges' to 'Abnormal alveolar ridge morphology' +add definition Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event. to HP:0006932 +change definition of HP:0033444 from Increased concentration of dodecanoylcarnitine in the blood circulation. to Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0100505 from 'Low levels of vitamin B5' to 'Decreased circulating vitamin B5 concentration' +change definition of HP:0100505 from A reduced concentration of vitamin B5. to The concentration of vitamin B5 in the blood circulation is below the lower limit of normal. +change definition of HP:0410051 from An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. to The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0034757 from 'Maternal barbiturate exposure' to 'Fetal barbiturate exposure' +rename HP:0032940 from 'Dissociative reaction' to 'Dissociation' +change definition of HP:0032940 from A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. to Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality. +rename HP:0008372 from 'Abnormality of vitamin A metabolism' to 'Abnormal circulating vitamin A concentration' +add definition Concentration of vitamin A in the blood circulation outside limits of normal. to HP:0008372 +change definition of HP:0010525 from An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. to The examiner identified the inability to name, move, or touch specific fingers. +rename HP:4000147 from 'Abnormal portal artery morphology' to 'Abnormal hepatic artery morphology' +change definition of HP:4000147 from Any structural anomaly of the portal artery. to Any structural anomaly of the hepatic artery or its branches. +change definition of HP:0030765 from Episodes of intense fear, screaming and flailing although affected individuals are still asleep. to Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep. +rename HP:5200127 from 'Aggression toward non caregivers' to 'Aggression toward non-caregivers' +add definition Aggression that is directed towards non-caregivers. to HP:5200127 +change definition of HP:0031487 from A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. to A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. +rename HP:0000746 from 'Delusions' to 'Delusion' +change definition of HP:0000746 from A false belief that is held despite evidence to the contrary. to A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. +rename HP:0100504 from 'Low levels of vitamin B2' to 'Decreased circulating vitamin B2 concentration' +change definition of HP:0100504 from A reduced concentration of vitamin B2. to The concentration of vitamin B2 in the blood circulation is below the lower limit of normal. +rename HP:0500161 from 'Increased level of carnosine in blood' to 'Increased circulating carnosine concentration' +change definition of HP:0500161 from An increased amount of carnosine in the blood. to Concentration of carnosine in the blood circulation above normal limits. +rename HP:0030223 from 'Manifestations of perseverative thought or action' to 'Perseverative thought' +rename HP:0030955 from 'Alcoholism' to 'Addictive alcohol use' +change definition of HP:0030955 from An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. to An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. +change definition of HP:0032835 from Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. to Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically. +change definition of HP:5201003 from Cleft hard palate in which the cleft goes through the entire length of the hard palate. to Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate. +change definition of HP:0000718 from Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. to Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). +change definition of HP:0032954 from Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. to Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. +rename HP:0000372 from 'Abnormality of the auditory canal' to 'Abnormal auditory canal morphology' +change definition of HP:0000372 from An abnormality of the External acoustic tube (also known as the auditory canal). to Any structural abnormality of the external acoustic tube (also known as the auditory canal). +rename HP:0005579 from 'Impaired renal ltubular reabsorption of chloride' to 'Impaired renal tubular reabsorption of chloride' +change definition of HP:0005579 from Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. to Any impairment of reabsorption of chloride by the kidney. +rename HP:0011071 from 'Abnormality of permanent molar morphology' to 'Abnormal permanent molar morphology' +rename HP:0005262 from 'Abnormality of the synovia' to 'Abnormal synovial membrane morphology' +add definition Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products. to HP:0005262 +rename HP:0003145 from 'Decreased adenosylcobalamin' to 'Decreased circulating adenosylcobalamin concentration' +change definition of HP:0003145 from Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. to The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. +rename HP:0034758 from 'Maternal narcotic exposure' to 'Fetal narcotic exposure' +rename HP:0025487 from 'Abnormality of bladder morphology' to 'Abnormal bladder morphology' +change definition of HP:0005671 from Deposition of calcium salts on both sides of the brain. to Deposition of calcium salts on both sides of the cerebrum. +rename HP:0100503 from 'Low levels of vitamin B1' to 'Decreased circulating vitamin B1 concentration' +change definition of HP:0100503 from A reduced concentration of vitamin B1. to The concentration of vitamin B1 in the blood circulation is below the lower limit of normal. +change definition of HP:0032858 from A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. to A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure. +change definition of HP:0100716 from Aggression towards oneself. to Self-aggression. +change definition of HP:0012187 from An increased concentration of protoporphyrins in erythrocytes. to Concentration of protoporphyrins in erythrocytes above the upper limit of normal. +change definition of HP:0025234 from An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. to An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep. +change definition of HP:0033650 from A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura\n(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. to A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. +change definition of HP:0011999 from A persecutory delusion of supposed hostility of others. to An inappropriate feeling of being persecuted or being the subject of hostility from others. +rename HP:0033063 from 'Shortened sleep cycle' to 'Shortened sleep phase' +change definition of HP:0033063 from A tendency to sleep less hours than usual while feeling well rested. to A tendency to sleep fewer hours than usual while feeling well-rested. +change definition of HP:0000734 from A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. to Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. +add definition Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria. to HP:0100306 +change definition of HP:0031358 from Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). to The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. +change definition of HP:0011340 from A subtle unilateral cleft of the upper lip, which may appear as a small indentation. to Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity. +rename HP:0000055 from 'Abnormality of female external genitalia' to 'Abnormal female external genitalia morphology' +change definition of HP:0000055 from An abnormality of the female external genitalia. to Any structural abnormality of the female external genitalia. +rename HP:0410073 from 'Increased level of ribose in CSF' to 'Increased CSF ribose concentration' +change definition of HP:0410073 from An increase in the level of ribose in the cerebrospinal fluid. to The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. +change definition of HP:0002870 from A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. to Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. +change definition of HP:0030208 from The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. to The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. +change definition of HP:0020215 from Seizures induced by thinking and decision-making.\ncomment: to Seizures induced by thinking and decision-making. comment: +change definition of HP:0033179 from An increased concentration of aconitic acid in the blood circulation. to Concentration of aconitic acid in the blood circulation above the upper limit of normal. +change definition of HP:5200036 from A consistent failure to make any response to verbal cues. to A consistent failure to respond to any verbal cues. +change definition of HP:0032238 from An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. to The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1. +rename HP:0002813 from 'Abnormality of limb bone morphology' to 'Abnormal limb bone morphology' +change definition of HP:0001249 from Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. to Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. +change definition of HP:0030214 from Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. to Pathological persistent sexual disinhibiting behavior, directed towards oneself or others. +change definition of HP:0002329 from Excessive daytime sleepiness. to Abnormal feeling of sleepiness or difficulty staying awake. +change definition of HP:0031868 from Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. to Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected. +change definition of HP:0000745 from A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. to A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. +change definition of HP:4000083 from Lack of interest of an individual in peers of comparable age and social groups. For example, a child who is only interested in social interactions with adults rather than children their age. to Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age. +change definition of HP:0100543 from Abnormal cognition with deficits in thinking, reasoning, or remembering. to Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. +add definition Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying). to HP:0000748 +rename HP:0025437 from 'Macrocephalic sperm head' to 'Macrozoospermia' +rename HP:0004362 from 'Abnormality of enteric ganglion morphology' to 'Abnormal enteric ganglion morphology' +rename HP:0011497 from 'Iris neovascularization' to 'Rubeosis iridis' +change definition of HP:0011497 from New growth of vessels on the surface of the iris. to Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. +change definition of HP:0034457 from Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group. to The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0008480 from The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. to Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. +rename HP:0001430 from 'Abnormality of the calf musculature' to 'Abnormal calf musculature morphology' +change definition of HP:0000716 from Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. to Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. +change definition of HP:0410309 from A increased concentration of alpha-aminoadipic acid in the urine. to The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0012671 from Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. to Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction. +rename HP:0000056 from 'Abnormality of the clitoris' to 'Abnormal clitoris morphology' +change definition of HP:0000056 from An abnormality of the clitoris. to Any structural abnormality of the clitoris. +rename HP:0032525 from 'Aggravated by acetylcholinesterase inhibitor' to 'Exacerbated by acetylcholinesterase inhibitor exposure' +rename HP:0000964 from 'Eczema' to 'Eczematoid dermatitis' +change definition of HP:0000964 from Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. to Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. +change definition of HP:0025641 from An abnormally increased concentration of glycolate in the blood circulation. to The concentration of glycolate in the blood circulation is above the upper limit of normal. +rename HP:0008765 from 'Auditory hallucinations' to 'Auditory hallucination' +change definition of HP:0008765 from The false perception of sound. to Perception of sounds without auditory stimulus. +change definition of HP:5200004 from A reduced interest in all people including both peers and non-peers. to There is a diminished interest in all individuals, including both peers and non-peers. +change definition of HP:0012154 from Inability to experience pleasure activities usually found enjoyable. to Inability to experience pleasurable activities usually found enjoyable. +rename HP:0020152 from 'Distal joint laxity' to 'Distal joint hypermobility' +rename HP:0032476 from 'Abnormal circulating vitamin B6 level' to 'Abnormal circulating vitamin B6 concentration' +change definition of HP:0000709 from A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. to A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. +change definition of HP:0012217 from Increased concentration of porphobilinogen in the urine. to The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:4000148 from 'Portal artery hyperplasia' to 'Hepatic artery hyperplasia' +change definition of HP:4000148 from Abnormal increase in size of the portal arteries of the liver. to Abnormal increase in size of the hepatic arteries. +change definition of HP:0033092 from An increase in the level of succinate in the urine. to The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0025235 from 'Non-rapid eye movement parasomnia' to 'NREM parasomnia' +change definition of HP:0025235 from A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). to A parasomnia that occurs during non-rapid eye movement (NREM) sleep. +change definition of HP:0032248 from Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. to Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host. +rename HP:4000132 from 'Aggravated by phenytoin' to 'Exacerbated by phenytoin exposure' +change definition of HP:0033561 from The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. \nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. to The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. +change definition of HP:0010536 from Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. to Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. +add definition Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed. to HP:0000741 +change definition of HP:0032642 from An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. to An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. +change definition of HP:0032278 from An increase in the level of 2-hydroxyglutaric acid in the urine. to The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0500162 from 'Decreased level of carnosine in blood' to 'Decreased circulating carnosine concentration' +rename HP:0040126 from 'Abnormal vitamin B12 level' to 'Abnormal circulating vitamin B12 concentration' +rename HP:0100502 from 'Vitamin B12 deficiency' to 'Decreased circulating vitamin B12 concentration' +add definition The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. to HP:0100502 +change definition of HP:0031468 from Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. to Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy. +change definition of HP:0032955 from Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. to Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. +change definition of HP:0031356 from A type of insomnia characterized by waking up (too) early in the morning. to A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time. +add definition An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature. to HP:0000719 +rename HP:0025361 from 'Abnormality of medullary pyramid morphology' to 'Abnormal medullary pyramid morphology' +change definition of HP:0032829 from Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. to Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features. +rename HP:0034717 from 'Cerebral cortex swollen achromatic neurons' to 'Swollen achromatic neurons in the cerebral cortex' +rename HP:0033052 from 'Psychogenic non-epileptic seizure' to 'Non-epileptic seizure' +change definition of HP:0033052 from Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. to Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously. +change definition of HP:5200022 from Reduced awareness of expected conventions which are normal and expected for particular social settings or interactions. to Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions. +rename HP:0040108 from 'Morphological abnormality of the anterior semicircular canal' to 'Abnormal anterior semicircular canal morphology' +change definition of HP:0025253 from An abnormal fear of being in a closed or narrow space with no escape. to An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia. +rename HP:0100016 from 'Abnormality of mesentery morphology' to 'Abnormal mesentery morphology' +change definition of HP:0031354 from Difficulty initiating sleep, that is, increased sleep onset latency. to Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep. +rename HP:0025028 from 'Abnormality of enteric nervous system morphology' to 'Abnormal enteric nervous system morphology' +change definition of HP:0002167 from Abnormalities in the sound of a person's speech or vocalization not necessarily associated with a known physical cause or due to stuttering or stammering. to Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. +rename HP:0034728 from 'Abnormal alpha-L-fucosidase activity' to 'Abnormal circulating alpha-L-fucosidase activity' +change definition of HP:0034728 from Activity of the enzyme alpha-L-fucosidase outside the limits of normal. to Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal. +change definition of HP:0030858 from When an activity, substance, object, or behavior becomes a major focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. to When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. +add definition Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability. to HP:0000757 +change definition of HP:0033174 from Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. to Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. +change definition of HP:0033436 from An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. to The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal. +rename HP:0033519 from 'Methamphetamine addiction' to 'Addictive methamphetamine use' +change definition of HP:0033160 from Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. to The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. +change definition of HP:0033676 from A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). to A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating. +rename HP:0006896 from 'Hypnopompic hallucinations' to 'Hypnopompic hallucination' +change definition of HP:0006896 from Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. to Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake. +rename HP:0031039 from 'Early spermatogenesis maturation arrest' to 'Spermatocyte maturation arrest' +change definition of HP:0031039 from A type of maturation arrest in which only spermatogonia or spermatocytes are found. to A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. +rename HP:0100513 from 'Low levels of vitamin E' to 'Decreased circulating vitamin E concentration' +rename HP:0010663 from 'Abnormality of thalamus morphology' to 'Abnormal thalamus morphology' +rename HP:5200125 from 'Aggression toward others' to 'Aggression towards others' +add definition Aggression that is directed towards other individuals, as opposed to oneself. to HP:5200125 +rename HP:0011942 from 'Increased urinary sulfite' to 'Increased urinary sulfite level' +change definition of HP:0011942 from Increased concentration of SO3(2-), i.e., sulfite, in the urine. to The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0003345 from 'Elevated urinary norepinephrine' to 'Elevated urinary norepinephrine level' +change definition of HP:0003345 from An increased concentration of noradrenaline in the urine. to The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0002193 from 'Pseudobulbar behavioral symptoms' to 'Pseudobulbar affect' +change definition of HP:0002193 from Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. to Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience. +rename HP:0011376 from 'Morphological abnormality of the vestibule of the inner ear' to 'Abnormal morphology of the vestibule of the inner ear' +change definition of HP:0006517 from Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. to Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. +change definition of HP:4000009 from An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury. to An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury. +add definition Inability to speak or communicate verbally past the age of typical language development. to HP:0002300 +change definition of HP:0034742 from Level of formiminoglutamic acid in urine above the upper limit of normal. to The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0045040 from 'Abnormal lactate dehydrogenase level' to 'Abnormal circulating lactate dehydrogenase concentration' +change definition of HP:0025233 from An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. to An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes. +rename HP:0034727 from 'Reduced alpha-L-fucosidase activity' to 'Reduced circulating alpha-L-fucosidase activity' +change definition of HP:0033447 from Increased concentration of O-isovalerylcarnitine in the blood circulation. to Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0003839 from 'Abnormality of upper limb epiphysis morphology' to 'Abnormal upper limb epiphysis morphology' +rename HP:0031472 from 'Risk taking' to 'Risky behavior' +change definition of HP:0031472 from Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality or personal danger. to Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger. +rename HP:0006482 from 'Abnormality of dental morphology' to 'Abnormal dental morphology' +rename HP:0011751 from 'Abnormality of the posterior pituitary' to 'Abnormal posterior pituitary morphogenesis' +change definition of HP:0031432 from A broad range of compulsive behaviors that are repeated including simple motor stereotypies and tics as well as more complex repetitive movements or compulsions. to A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. +add definition Tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring. to HP:5200111 +change definition of HP:0002330 from Attacks of disabling daytime drowsiness and low alertness. to A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep +add definition A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors. to HP:0001345 +change definition of HP:0032816 from Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. to Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites. +change definition of HP:0034656 from Amount of 3-hydroxyglutaric acid in urine above the upper limit of normal. to The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. +add definition Loss of alertness and orientation to place and time. to HP:0007185 +change definition of HP:0010529 from The repetition of words or phrases that are odd or used in a nonsocial manner. These can be words or phrases the person has heard or invented. to The repetition of words or phrases that are odd or used in a non-social manner. These can be words or phrases that the person has heard or invented. +change definition of HP:0033136 from An inflammed lymph node that is filled with pus. to An inflamed lymph node that is filled with pus. +change definition of HP:0033080 from Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. to Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test. +rename HP:0040090 from 'Abnormality of the tympanic membrane' to 'Abnormal tympanic membrane morphology' +change definition of HP:0040090 from An abnormality of the tympanic membrane to Any structural abnormality of the tympanic membrane +change definition of HP:0032674 from A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. to A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. +rename HP:0100734 from 'Abnormality of vertebral epiphysis morphology' to 'Abnormal vertebral epiphysis morphology' +rename HP:0034729 from 'Elevated alpha-L-fucosidase activity' to 'Elevated circulating alpha-L-fucosidase activity' +rename HP:0000777 from 'Abnormality of the thymus' to 'Abnormal thymus morphology' +rename HP:0033543 from 'Nicotine addiction' to 'Addictive nicotine use' +change definition of HP:0033543 from Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. to Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences. +rename HP:0034367 from 'Decreased beta-mannosidase activity' to 'Decreased circulating beta-mannosidase activity' +change definition of HP:0030215 from Uncontrolled episodes of crying, without apparent motivating stimuli. to Uncontrolled episodes of crying occur without any apparent motivating stimuli. +rename HP:0033518 from 'Methylphenidate addiction' to 'Addictive methylphenidate use' +rename HP:0000032 from 'Abnormality of male external genitalia' to 'Abnormal male external genitalia morphology' +change definition of HP:0000032 from An abnormality of male external genitalia. to Any structural abnormality of male external genitalia. +change definition of HP:0001254 from A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. to A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. +change definition of HP:0031473 from Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. to Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults. +change definition of HP:0033705 from A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control. to A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations. +change definition of HP:0004342 from Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. to Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose. +rename HP:0011766 from 'Abnormality of the parathyroid morphology' to 'Abnormal parathyroid morphology' +rename HP:0011732 from 'Abnormality of adrenal morphology' to 'Abnormal adrenal morphology' +add definition A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve. to HP:0006691 +change definition of HP:0034011 from A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. to A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. +rename HP:0010827 from 'Abnormality of the seventh cranial nerve' to 'Abnormal seventh cranial physiology' +change definition of HP:0025162 from Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. to Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process. +change definition of HP:0025237 from A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. to A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings. +rename HP:0010790 from 'Hyoplasia of the Leydig cells' to 'Hypoplasia of the Leydig cells' +add definition Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality. to HP:0007200 +rename HP:0002062 from 'Morphological abnormality of the pyramidal tract' to 'Abnormal pyramidal tract morphology' +change definition of HP:0005576 from A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. to A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. +rename HP:0025057 from 'Abnormality of olfactory lobe morphology' to 'Abnormal olfactory lobe morphology' +change definition of HP:0010535 from An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. to An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. +rename HP:0011390 from 'Morphological abnormality of the inner ear' to 'Abnormal inner ear morphology' +change definition of HP:0031874 from A tendency towards rising very late in the morning and going to bed late at night. to A tendency towards waking up very late in the morning and staying up late at night. +rename HP:0025483 from 'Abnormal circulating thyroglobulin level' to 'Abnormal circulating thyroglobulin concentration' +rename HP:0100889 from 'Abnormality of the ductus choledochus' to 'Abnormal ductus choledochus morphology' +rename HP:0011111 from 'Abnormality of immune serum protein physiology' to 'Abnormal immune serum protein physiology' +rename HP:0025029 from 'Abnormality of enteric neuron morphology' to 'Abnormal enteric neuron morphology' +change definition of HP:0032936 from Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. to Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context. +rename HP:4000128 from 'Nitric oxide addiction' to 'Addictive nitrous oxide use' +change definition of HP:4000128 from Addiction to inhaled nitrous oxide gas (N2O). to Addiction to inhaled nitrous oxide gas (N2O) is a growing concern. +rename HP:0011380 from 'Morphological abnormality of the semicircular canal' to 'Abnormal semicircular canal morphology' +change definition of HP:0030213 from Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. to Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness. +change definition of HP:0005849 from Generalized deposition of calcium salts within the brain. to Generalized deposition of calcium salts within the cerebrum. +rename HP:0025033 from 'Abnormality of digestive system morphology' to 'Abnormal digestive system morphology' +change definition of HP:0031814 from Repetition of one's own words or phrases. to Repetition of one's own words or phrases is a common occurrence. +change definition of HP:0002514 from The presence of calcium deposition within brain structures. to The presence of calcium deposition within the cerebrum. +change definition of HP:0020192 from Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. to Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. +rename HP:0030680 from 'Abnormality of cardiovascular system morphology' to 'Abnormal cardiovascular system morphology' +change definition of HP:5201005 from Cleft soft palate in which the cleft goes through the entire length of the soft palate. to Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula. +change definition of HP:0033324 from Increased concentration of homovanillic acid in the blood circulation. to The concentration of homovanillic acid in the blood circulation is above the upper limit of normal. +change definition of HP:0034321 from An increased concentration of guanidinoacetic acid in the blood circulation. to Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal. +rename HP:0012443 from 'Abnormality of brain morphology' to 'Abnormal brain morphology' +rename HP:0100335 from 'Non-midline cleft lip' to 'Non-midline cleft of the upper lip' +change definition of HP:0100335 from Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. to Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. +change definition of HP:0032660 from A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: \nsource: \nseeAlso: Tonic-clonic status epilepticus to A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. +rename HP:0006544 from 'Extrapulmonary sequestrum' to 'Extrapulmonary lobar sequestration' +rename HP:5200113 from 'Offers information' to 'Failure to offer information to initiate social interaction' +add definition The absence of the tendency to offer information as a means to initiate social interactions or direct another's attention. to HP:5200113 +rename HP:0033516 from 'Benzodiazepine addiction' to 'Addictive benzodiazepine use' +change definition of HP:0025179 from On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which\nmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. to On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. +rename HP:0025163 from 'Abnormality of optic chiasm morphology' to 'Abnormal optic chiasm morphology' +rename HP:0008326 from 'Reduced circulating vitamin B6 level' to 'Reduced circulating vitamin B6 circulating' +rename HP:0033512 from 'Stimulant addiction' to 'Addictive stimulant use' +change definition of HP:0033512 from Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. to Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing. +change definition of HP:0034497 from An increased amount of hexanoic acid in the urine. to The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0002585 from 'Abnormality of the peritoneum' to 'Abnormal peritoneum morphology' +change definition of HP:0031433 from A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. to A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others. +change definition of HP:0000204 from A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. to A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. +change definition of HP:0030743 from Persistance of a posterior remnant of the hyaloid artery located at the optic disc. to Persistence of a posterior remnant of the hyaloid artery located at the optic disc. +change definition of HP:0025160 from A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. to Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. +change definition of HP:0033171 from Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. to Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. +change definition of HP:0034657 from Amount of malonic acid in urine above upper limit of normal. to The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0033213 from An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. to The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0011892 from 'Low levels of vitamin K' to 'Decreased circulating vitamin K concentration' +change definition of HP:0011892 from A reduced concentration of vitamin K. to The concentration of vitamin K in the blood circulation is below the lower limit of normal. +change definition of HP:0031589 from Frequent thinking about or preoccupation with killing oneself. to Frequent thoughts about or preoccupation with killing oneself. +rename HP:0011992 from 'Abnormality of neutrophil morphology' to 'Abnormal neutrophil morphology' +rename HP:0001441 from 'Abnormality of the musculature of the thigh' to 'Abnormality thigh musculature morphology' +change definition of HP:0032643 from Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. to Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. +rename HP:0040106 from 'Morphological abnormality of the lateral semicircular canal' to 'Abnormal lateral semicircular canal morphology' +rename HP:0011979 from 'Elevated urinary dopamine' to 'Elevated urinary dopamine level' +change definition of HP:0011979 from An increased concentration of dopamine in the urine. to The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0002006 from 'Facial cleft' to 'Tessier cleft' +change definition of HP:0020222 from A decreased concentration of homocystine in the blood. to A decreased concentration of homocysteine in the blood. +add definition Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position. to HP:0034667 +change definition of HP:0034690 from Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. to Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. +change definition of HP:0033193 from Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. to Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. +rename HP:0025445 from 'Morphological abnormality of the papillary muscles' to 'Abnormal papillary muscle morphology' +change definition of HP:0000711 from A state of unease characterized by diffuse motor activity or motion, subject to limited control, nonproductive, or disorganized behavior. to A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. +rename HP:0002992 from 'Abnormality of tibia morphology' to 'Abnormal tibia morphology' +change definition of HP:0031849 from A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. to A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night. +change definition of HP:0000738 from Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. to Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. +rename HP:0004905 from 'Low levels of vitamin A' to 'Reduced circulating vitamin A concentration' +change definition of HP:0004905 from A reduced concentration of vitamin A. to Concentration of vitamin A below the lower limit of normal in the blood circulation. +change definition of HP:0031355 from Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. to Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night. +rename HP:0034756 from 'Maternal exposure history' to 'Fetal exposure history' +change definition of HP:0020090 from Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. to Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise. +change definition of HP:0012076 from A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. to A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness. +change definition of HP:0032968 from Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. to Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. +change definition of HP:0033694 from The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object. to Perception of touch without a tactile stimulus. +change definition of HP:0008160 from An increase in the level of 3-hydroxydicarboxylic acid in the urine. to The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0005347 from Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.\nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. to Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. +add definition Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity. to HP:0008760 +change definition of HP:0025072 from Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. to Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave. +rename HP:0006344 from 'Abnormality of primary molar morphology' to 'Abnormal primary molar morphology' +rename HP:0100512 from 'Low levels of vitamin D' to 'Decreased circulating vitamin D concentration' +change definition of HP:0100512 from A reduced concentration of Vitamin D. to The concentration of vitamin D in the blood circulation is below the lower limit of normal. +rename HP:0100851 from 'Abnormal emotion/affect behavior' to 'Abnormal emotion' +change definition of HP:0100851 from An abnormality of emotional behaviour. to Abnormalities in the intensity, frequency, or duration of emotional experiences. +rename HP:0004372 from 'Reduced consciousness/confusion' to 'Reduced consciousness' +add definition Abnormally diminished level of attention, responsiveness, or wakefulness. to HP:0004372 +rename HP:0034725 from 'Abnormal beta-mannosidase activity' to 'Abnormal circulating beta-mannosidase activity' +rename HP:0007544 from 'Piebaldism' to 'Piebald skin depigmentation' +change definition of HP:0007544 from Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. to Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. +change definition of HP:0025269 from A sudden episode of intense fear in a situation in which there is no danger or apparent cause. to A sudden episode of intense fear in a situation where there is no danger or apparent cause. +rename HP:0045041 from 'Reduced lactate dehydrogenase B level' to 'Reduced circulating lactate dehydrogenase concentration' +change definition of HP:0045041 from A decreased or reduced level of the enzyme lactate dehydrogenase in serum. to Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal. +rename HP:0011814 from 'Increased urinary hypoxanthine' to 'Increased urinary hypoxanthine level' +change definition of HP:0011814 from An increased level of hypoxanthine in the urine. to The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0012718 from 'Morphological abnormality of the gastrointestinal tract' to 'Abnormal gastrointestinal tract morphology' +rename HP:0002360 from 'Sleep disturbance' to 'Sleep abnormality' +change definition of HP:0002360 from An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. to An abnormal pattern in the quality, quantity, or characteristics of sleep. +change definition of HP:0032223 from Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. to Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. +change definition of HP:0030018 from Dminished sexual desire in female. to Diminished sexual desire in female. +add definition Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. to HP:0000725 +rename HP:0033517 from 'Heroin addiction' to 'Addictive heroin use' +change definition of HP:0041092 from Heightened emotional reactivity to environmental stimuli, including emotions of others. to Heightened emotional reactivity to environmental stimuli, including the emotions of others. +change definition of HP:0100738 from Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. to Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption. +rename HP:0012434 from 'Delayed social development' to 'Delayed early-childhood social milestone development' +rename HP:0032025 from 'Reduced serum alpha-1-antitrypsin' to 'Reduced circulating alpha-1-antitrypsin concentration' +change definition of HP:0032025 from A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. to A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. +change definition of HP:0030389 from Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. to Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. +rename HP:0005186 from 'Synovial hypertrophy' to 'Synovial lining hyperplasia' +add definition Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. to HP:0005186 +change definition of HP:0032974 from Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. to Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. +rename HP:0100510 from 'Low levels of vitamin C' to 'Decreased circulating vitamin C concentration' +change definition of HP:0100510 from A reduced concentration of Vitamin C. to The concentration of vitamin C in the blood circulation is below the lower limit of normal. +change definition of HP:0005942 from Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. to Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. +change definition of HP:0034018 from The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). to The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). +change definition of HP:0000737 from A proneness to anger, i.e., a condition of being easily bothered or annoyed. to A proneness to anger, i.e., a tendency to become easily bothered or annoyed. +change definition of HP:0025267 from Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. to Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. +rename HP:0010527 from 'Astereognosia' to 'Astereognosis' +change definition of HP:0010527 from Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. to Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition. +rename HP:0410058 from 'Increased level of D-threitol in CSF' to 'Increased CSF D-threitol concentration' +change definition of HP:0410058 from An increase in the level of D-threitol in the cerebrospinal fluid. to The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. +rename HP:0032365 from 'Exacerbated by aspirin ingestion' to 'Exacerbated by aspirin exposure' +change definition of HP:0002039 from A lack or loss of appetite for food (as a medical condition). to Anorexia, or the loss of appetite for food, is a medical condition. +change definition of HP:0100710 from Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. to Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. +rename HP:0003639 from 'Elevated urinary epinephrine' to 'Elevated urinary epinephrine level' +change definition of HP:0003639 from An increased concentration of adrenaline in the urine. to The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0000723 from Behavior characterized by an abnormal limitation to few interests and activities. to Behavior characterized by an abnormal limitation to a few interests and activities. +change definition of HP:0010865 from An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. to An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. +change definition of HP:0034767 from Abnormal structure of the rete ridges (also known as rete pegs), which are\ndownward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae. to Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae. +rename HP:0011472 from 'Abnormality of small intestinal villus morphology' to 'Abnormal small intestinal villus morphology' +rename HP:0033511 from 'Drug addiction' to 'Addictive substance use' +rename HP:0002151 from 'Increased serum lactate' to 'Increased circulating lactate concentration' +change definition of HP:5201004 from Cleft hard palate in which the cleft doe not goes through the entire length of the hard palate. to Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate. +change definition of HP:0100523 from The presence of an abscess of the liver. to A circumscribed area of pus or necrotic debris in the liver. +change definition of HP:0020191 from Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. to Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. +rename HP:0011121 from 'Abnormality of skin morphology' to 'Abnormal skin morphology' +rename HP:0002492 from 'Morphological abnormality of the corticospinal tract' to 'Abnormal corticospinal tract morphology' +change definition of HP:0033302 from An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. to The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. +rename HP:0100514 from 'Abnormality of vitamin E metabolism' to 'Abnormal circulating vitamin E concentration' +add definition Concentration of vitamin E in the blood circulation outside of normal limits. to HP:0100514 +rename HP:0003234 from 'Decreased plasma carnitine' to 'Decreased circulating carnitine concentration' +change definition of HP:0003234 from A decreased concentration of carnitine in the blood. to Concentration of carnitine in the blood circulation below the lower limit of normal. +rename HP:0008768 from 'Inappropriate sexual behavior' to 'Abnormal sexual behavior' +add definition An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon. to HP:0008768 +rename HP:0003310 from 'Abnormality of the odontoid process' to 'Abnormal odontoid process morphology' +change definition of HP:0003310 from Abnormality of the dens of the axis, which is also known as the odontoid process. to Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. +change definition of HP:0033440 from Increased concentration of octenoylcarnitine in the blood circulation. to Concentration of octenoylcarnitine in the blood circulation above the upper limit of normal. +change definition of HP:0033441 from Increased concentration of hexanoylcarnitine in the blood circulation. to Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0032501 from 'Exacerbated by contraceptive medication' to 'Exacerbated by contraceptive medication exposure' +change definition of HP:0032941 from Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. to Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. +rename HP:0003262 from 'Smooth muscle antibody positivity' to 'Anti-smooth muscle antibody positivity' +change definition of HP:0033159 from Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. to The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. +change definition of HP:0000739 from Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. to Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. +add definition A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. to HP:0002139 +change definition of HP:0000708 from An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities. to Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. +rename HP:0002761 from 'Generalized joint laxity' to 'Generalized joint hypermobility' +change definition of HP:0002761 from Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. to Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. +change definition of HP:0034648 from Amount of fumaric acid in the urine above normal limits. to The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0003219 from An increased concentration of ethylmalonic acid in the urine. to The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +rename HP:0000798 from 'Oligospermia' to 'Oligozoospermia' +rename HP:0003528 from 'Elevated calcitonin' to 'Elevated circulating calcitonin concentration' +add definition Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. to HP:0003528 +change definition of HP:0032301 from Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. to Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. +change definition of HP:0033802 from A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. to A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. +rename HP:5200068 from 'Socially innappropriate questionning' to 'Socially inappropriate questioning' +change definition of HP:0040082 from A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. to A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation. +rename HP:0008609 from 'Morphological abnormality of the middle ear' to 'Abnormal middle ear morphology' +change definition of HP:0030744 from A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. to A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. +change definition of HP:0032983 from CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. to CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. +change definition of HP:0410153 from An increase in the level of methylsuccinic acid in the urine. to The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. +change definition of HP:0033625 from A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. to A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening. +change definition of HP:0033442 from Increased concentration of glutarylcarnitine in the blood circulation. to Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal. +rename HP:0041063 from 'Chronic decreased cirulating IgG2' to 'Chronic decreased circulating IgG2' +create synonym 'Malignant rhabdoid tumour of the kidney' for HP:0034402 +create synonym 'Excessive sleep' for HP:0100786 +create synonym 'External ear malformation' for HP:0000356 +create synonym 'Morphological abnormality of the posterior semicircular canal' for HP:0040107 +create synonym 'Organised thrombi within the medullary peritubular capillary lumen' for HP:0033871 +create synonym 'Hexosaminidase B low in blood' for HP:0033978 +create synonym 'Elevated C3 acylcarnitine' for HP:0033443 +remove synonym 'Olfactory hallucination' for HP:0033693 +create synonym 'MR Spectroscopy: N-acetylaspartate low in brain' for HP:0012708 +create synonym 'Elevated circulating C10:1 acylcarnitine concentration' for HP:0033439 +create synonym 'Scissoring gait' for HP:0012407 +create synonym 'Scissoring of the lower limbs' for HP:0012407 +create synonym 'Scissoring of the lower extremities' for HP:0012407 +create synonym 'Pterygia' for HP:0001059 +create synonym 'Manic depressive' for HP:0007302 +create synonym 'Bipolar depression' for HP:0007302 +create synonym 'Abnormal nonverbal communicative behaviour' for HP:0000758 +create synonym 'Abnormality of higher mental function' for HP:0011446 +create synonym 'Grade III foetal intracranial haemorrhage' for HP:0034218 +create synonym 'Euphoric mood' for HP:0031844 +create synonym 'Amphetamine addiction' for HP:0033514 +create synonym 'Gyral disorganisation' for HP:0002536 +create synonym 'Hyperkinetic disorder' for HP:0000752 +create synonym 'C-ANCA antibodies' for HP:0032230 +create synonym 'Cytoplasmic antineutrophil cytoplasmic antibodies' for HP:0032230 +create synonym 'Hyperechogenic foetal bowel' for HP:0010943 +create synonym 'Prenatal ultrasound: hyperechogenic bowel' for HP:0010943 +create synonym 'Hyperechogenic fetal bowel' for HP:0010943 +create synonym 'Autosomal dominant somatic cell mutation' for HP:0001442 +create synonym 'Somatic mutation' for HP:0001442 +create synonym 'Somatic mosaicism' for HP:0001442 +create synonym 'Increased circulating thyroglobulin level' for HP:0025484 +create synonym 'Proctalgia' for HP:0500005 +create synonym 'Anorectal pain' for HP:0500005 +create synonym 'Agnosia' for HP:0010524 +create synonym 'Psychomotor agitation' for HP:0000713 +create synonym 'Abnormality of fibula morphology' for HP:0002991 +create synonym 'Intrapulmonary sequestration' for HP:0011278 +create synonym 'Intralobar sequestration' for HP:0011278 +create synonym 'Binucleated erythroblast' for HP:0034278 +create synonym 'Double-nucleated erythroblast' for HP:0034278 +create synonym 'Worthlessness' for HP:0031469 +create synonym 'Hypomanic' for HP:0100754 +create synonym 'Hypomania' for HP:0100754 +create synonym 'Abnormality of intestinal smooth muscle morphology' for HP:0030935 +create synonym 'Ligamentous laxity' for HP:0001382 +create synonym 'Joint laxity' for HP:0001382 +create synonym 'Joint hyperlaxity' for HP:0001382 +create synonym 'Joint instability' for HP:0001382 +create synonym 'Joint hyperflexibility' for HP:0001382 +create synonym 'Joints move beyond expected range of motion' for HP:0001382 +create synonym 'Joint ligamentous laxity' for HP:0001382 +create synonym 'Lax joints' for HP:0001382 +create synonym 'Loose-jointedness' for HP:0001382 +create synonym 'Sleep phase disturbance' for HP:0006979 +create synonym 'Sleep-wake cycle disorders' for HP:0006979 +create synonym 'Internal-clock disorders' for HP:0006979 +create synonym 'Erythema of the eyelids' for HP:0040323 +create synonym 'Red eyelid' for HP:0040323 +create synonym 'Hallucinations while falling asleep' for HP:0002519 +create synonym 'Abnormality of the scrotum' for HP:0000045 +create synonym 'Disturbed colour vision' for HP:0000551 +create synonym 'Medial/intimal arcuate venulitis' for HP:0033917 +create synonym 'Increased faecal CIII:CI ratio' for HP:0034471 +create synonym 'Abnormality of lower limb epiphysis morphology' for HP:0006500 +create synonym 'Stabbing pain' for HP:0025281 +create synonym 'Elevated urinary AICA-riboside level' for HP:0034565 +create synonym 'Low levels of vitamin B8' for HP:0100506 +create synonym 'Decreased alertness' for HP:0032044 +remove synonym 'Persistant truncus arteriosus' for HP:0001660 +create synonym 'Persistent truncus arteriosus' for HP:0001660 +create synonym 'Punctiform multicoloured opacities in the posterior corneal stroma' for HP:0034327 +create synonym 'Increased level of xylitol in CSF' for HP:0410075 +create synonym 'Hypoglycemic coma' for HP:0001325 +create synonym 'Elevated circulating C18:0 acylcarnitine concentration' for HP:0033381 +create synonym 'Early foetal onset' for HP:0034199 +create synonym 'Morphological abnormality of the nerves of the inner ear' for HP:0011391 +create synonym 'Morphological abnormality of the utricle' for HP:0040109 +create synonym 'Abnormality of skin adnexa morphology' for HP:0011138 +create synonym 'Abnormal foetal CNS morphology' for HP:0034206 +create synonym 'Foetal atrial septal dilatation' for HP:0025730 +create synonym 'Dysphoric mood' for HP:0033838 +create synonym 'Altered consciousness or cognition' for HP:0031258 +create synonym 'Common, complex disease' for HP:0010982 +create synonym 'Complex disease' for HP:0010982 +create synonym 'Multifactorial inheritance' for HP:0010982 +create synonym 'Aplasia of the fingers' for HP:0009380 +create synonym 'Hand oligodactyly' for HP:0009380 +create synonym 'Hand has less than 5 fingers' for HP:0009380 +create synonym 'Intermittent lack of energy' for HP:0011973 +create synonym 'Decreased methylcobalamin' for HP:0003223 +create synonym 'Allergic eczema' for HP:0001047 +create synonym 'Prurigo Besnier' for HP:0001047 +create synonym 'Infantile eczema' for HP:0001047 +create synonym 'Atopic eczema' for HP:0001047 +create synonym 'Neurodermatitis' for HP:0001047 +create synonym 'Chronic HPV infection' for HP:0020114 +create synonym 'Persistent HPV infection' for HP:0020114 +remove synonym 'Mongolian spot' for HP:0100814 +create synonym 'Decreased phytanoyl-CoA hydroxylase activity' for HP:4000163 +create synonym 'Advanced sleep onset' for HP:0031873 +create synonym 'Ochronotic arthritis' for HP:0030764 +create synonym 'Anti-thyrotropin receptor antibody' for HP:0034189 +create synonym 'Morphological abnormality of the saccule' for HP:0040110 +create synonym 'Abnormality of the pituitary gland' for HP:0012503 +create synonym 'Trance' for HP:0001259 +create synonym 'Persistent vegetative state' for HP:0001259 +create synonym 'Unconsciousness' for HP:0001259 +create synonym 'Stupor' for HP:0001259 +create synonym 'Elevated circulating vitamin B6 level' for HP:0032477 +create synonym 'Angiotensin-converting enzyme high in CSF' for HP:0034406 +create synonym 'Elevated urine osmolality' for HP:0033359 +create synonym 'Elevated urine osmolarity' for HP:0033359 +create synonym 'Opioid addiction' for HP:0033515 +create synonym 'Late spermatogenesis maturation arrest' for HP:0031040 +create synonym 'Laboured breathing' for HP:0002098 +create synonym 'Restless legs syndrome' for HP:0012452 +create synonym 'Tachyathetosis' for HP:0012452 +create synonym 'Ekbom syndrome' for HP:0012452 +create synonym 'Cocaine addiction' for HP:0033513 +create synonym 'Elevated circulating C18:1 acylcarnitine concentration' for HP:0033462 +create synonym 'Double punctum' for HP:0032514 +create synonym 'Punctum reduplication' for HP:0032514 +create synonym 'Supernumerary punctum' for HP:0032514 +create synonym 'Accessory puncta' for HP:0032514 +remove synonym 'Increased blood cystine concentraions' for HP:0500151 +create synonym 'Increased blood cystine concentration' for HP:0500151 +create synonym 'Neuroticism' for HP:0031467 +create synonym 'Negative affect' for HP:0031467 +create synonym 'Abnormality of femur morphology' for HP:0002823 +create synonym 'Stereotypical motor behaviour' for HP:0000733 +create synonym 'Repetitive behaviour Stereotypic behaviour' for HP:0000733 +create synonym 'repetitive behaviour' for HP:0000733 +create synonym 'Abnormal fear-induced behaviour' for HP:0100852 +create synonym 'Abnormal fear/anxiety-related behavior' for HP:0100852 +create synonym 'Abnormality of bone marrow cell morphology' for HP:0005561 +create synonym 'Cubital tunnel syndrome' for HP:0012186 +create synonym 'Inheritance modifier' for HP:0034335 +create synonym 'Leg weakness' for HP:0007340 +create synonym 'Abnormality of the alveolar ridges' for HP:0006477 +create synonym 'Brief reactive psychosis' for HP:0006932 +create synonym 'Brief psychotic episodes' for HP:0006932 +create synonym 'Low levels of vitamin B5' for HP:0100505 +create synonym 'Dissociative reaction' for HP:0032940 +create synonym 'Hypoplastic ovary' for HP:0008724 +create synonym 'Dminished foetal movement' for HP:0001558 +create synonym 'Small anterior pituitary lobe' for HP:0010627 +create synonym 'Low levels of vitamin B2' for HP:0100504 +remove synonym 'Increased blood carnosine concenrtation' for HP:0500161 +create synonym 'Increased level of carnosine in blood' for HP:0500161 +create synonym 'Increased blood carnosine concentration' for HP:0500161 +create synonym 'Alcohol addiction' for HP:0030955 +create synonym 'Alcoholism' for HP:0030955 +create synonym 'Abnormality of the auditory canal' for HP:0000372 +create synonym 'Intimal mucoid oedema within interlobular arterial intima/media' for HP:0033960 +create synonym 'Abnormality of permanent molar morphology' for HP:0011071 +create synonym 'Early foetal demise' for HP:0005268 +create synonym 'Acalculia' for HP:0002442 +create synonym 'Maternal narcotic exposure' for HP:0034758 +create synonym 'Abnormality of bladder morphology' for HP:0025487 +create synonym 'Low levels of vitamin B1' for HP:0100503 +create synonym 'Absence of foetal nasal bone' for HP:0025706 +create synonym 'Elevated circulating C18:2 acylcarnitine concentration' for HP:0033484 +create synonym 'Self-injurious behaviors' for HP:0100716 +create synonym 'Self-injurious behaviours' for HP:0100716 +create synonym 'Parasitemia' for HP:0034523 +create synonym 'Event that disrupts sleep' for HP:0025234 +create synonym 'Enlarged aortic root' for HP:0002616 +create synonym 'Mongolian spot' for HP:0009920 +create synonym 'Nevus of Ito' for HP:0009920 +create synonym 'Self-control' for HP:0000734 +create synonym 'Impulse control disorders' for HP:0000734 +create synonym 'Unresponsive wakefulness' for HP:0031358 +create synonym 'Abnormality of female external genitalia' for HP:0000055 +create synonym 'Increased level of ribose in CSF' for HP:0410073 +create synonym 'Megakaryocytes decreased im bone marrow' for HP:0005548 +create synonym 'Abnormality of limb bone morphology' for HP:0002813 +create synonym 'Non-visualisation of the foetal stomach' for HP:0010963 +remove synonym 'Sex addiction' for HP:0030214 +create synonym 'Somnolence' for HP:0002329 +create synonym 'Abnormal drowsiness' for HP:0002329 +create synonym 'Sleepiness' for HP:0002329 +create synonym 'Mouth tumour' for HP:0100649 +create synonym 'Diminished energy' for HP:0000745 +create synonym 'Macrocephalic sperm head' for HP:0025437 +create synonym 'Developmental dysplasia of the hip' for HP:0001385 +create synonym 'DDH' for HP:0001385 +create synonym 'Abnormality of enteric ganglion morphology' for HP:0004362 +create synonym 'VSGP' for HP:0000511 +create synonym 'Iris neovascularization' for HP:0011497 +create synonym 'Intimal mucoid oedema within interlobular veins' for HP:0033965 +create synonym 'Depressive episode' for HP:0000716 +create synonym 'Abnormal vertebral bodies' for HP:0003312 +create synonym 'Agraphia' for HP:0010526 +create synonym 'Abnormality of the clitoris' for HP:0000056 +create synonym 'Histidinemia' for HP:0010906 +create synonym 'Anhedonic' for HP:0012154 +create synonym 'Distal joint laxity' for HP:0020152 +create synonym 'Ectopic posterior pituitary lobe' for HP:0011755 +create synonym 'Abnormal circulating vitamin B6 level' for HP:0032476 +create synonym 'Non-rapid eye movement parasomnia' for HP:0025235 +create synonym 'Disturbance in NREM' for HP:0025235 +create synonym 'Grade II foetal intracranial haemorrhage' for HP:0034214 +create synonym 'State of indifference' for HP:0000741 +create synonym 'Lack of feeling, emotion, interest, motivation, initiation' for HP:0000741 +create synonym 'Foetal umbilical vein dilatation' for HP:0025690 +create synonym 'Absent stapedius reflexes' for HP:0008529 +create synonym 'Decreased level of carnosine in blood' for HP:0500162 +create synonym 'Functional foetal anomaly' for HP:0034059 +create synonym 'Abnormal vitamin B12 level' for HP:0040126 +create synonym 'Early morning awakening' for HP:0031356 +create synonym 'Abnormality of medullary pyramid morphology' for HP:0025361 +create synonym 'Cerebral cortex swollen achromatic neurons' for HP:0034717 +create synonym 'Functional seizure' for HP:0033052 +create synonym 'Psychosomatic seizure' for HP:0033052 +create synonym 'Psychogenic non-epileptic seizure' for HP:0033052 +create synonym 'Grade I foetal intracranial haemorrhage' for HP:0034209 +create synonym 'Myeloid hypoplasia' for HP:0005528 +create synonym 'Morphological abnormality of the anterior semicircular canal' for HP:0040108 +create synonym 'Abnormality of mesentery morphology' for HP:0100016 +create synonym 'Insomnia early' for HP:0031354 +create synonym 'Sleep onset insomnia' for HP:0031354 +create synonym 'Insomnia initial' for HP:0031354 +create synonym 'Trouble falling asleep' for HP:0031354 +create synonym 'Increased sleep latency' for HP:0031354 +create synonym 'Abnormality of enteric nervous system morphology' for HP:0025028 +create synonym 'Abnormal vocalisation' for HP:0002167 +create synonym 'Anosognosia' for HP:0000757 +create synonym 'Methamphetamine addiction' for HP:0033519 +create synonym 'Hallucinations while awaking' for HP:0006896 +create synonym 'Spermatocyte arrest' for HP:0031039 +create synonym 'Spermatocyte meiotic arrest' for HP:0031039 +create synonym 'Low levels of vitamin E' for HP:0100513 +create synonym 'Abnormality of thalamus morphology' for HP:0010663 +create synonym 'Increased circulating LDH concentration' for HP:0025435 +create synonym 'Pseudobulbar behavioral symptoms' for HP:0002193 +create synonym 'Morphological abnormality of the vestibule of the inner ear' for HP:0011376 +create synonym 'Abnormal lactate dehydrogenase level' for HP:0045040 +create synonym 'AbnormalLDH level' for HP:0045040 +create synonym 'Abnormal circulating LDH concentration' for HP:0045040 +create synonym 'Abnormal LDH level' for HP:0045040 +create synonym 'Inability to move or speak' for HP:0025233 +create synonym 'Myeloid hyperplasia' for HP:0031020 +create synonym 'Abnormal pulmonary lobation' for HP:0002101 +create synonym 'Abnormality of upper limb epiphysis morphology' for HP:0003839 +create synonym 'Abnormality of dental morphology' for HP:0006482 +create synonym 'Abnormality of the posterior pituitary' for HP:0011751 +create synonym 'Increased urinary sialic acid' for HP:0410156 +create synonym 'Rudimentary fallopian tubes' for HP:0008697 +create synonym 'A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep' for HP:0002330 +create synonym 'Fainting' for HP:0007185 +create synonym 'Abnormality of the tympanic membrane' for HP:0040090 +remove synonym 'Impulse control disorders' for HP:5200045 +create synonym 'Abnormality of vertebral epiphysis morphology' for HP:0100734 +create synonym 'Addictive tobacco use' for HP:0033543 +create synonym 'Methylphenidate addiction' for HP:0033518 +create synonym 'Abnormality of male external genitalia' for HP:0000032 +create synonym 'Inactivity' for HP:0001254 +create synonym 'Slowness' for HP:0001254 +create synonym 'Torpor' for HP:0001254 +create synonym 'Dullness' for HP:0001254 +create synonym 'Inaction' for HP:0001254 +create synonym 'Languor' for HP:0001254 +create synonym 'Hostile' for HP:0031473 +create synonym 'Angular muscle fibres' for HP:0034045 +create synonym 'Crying episodes' for HP:0033705 +create synonym 'Abnormality of the parathyroid morphology' for HP:0011766 +create synonym 'Abnormality of adrenal morphology' for HP:0011732 +create synonym 'Slow speech or confused thinking upon waking' for HP:0025237 +create synonym 'Disoriented' for HP:0025237 +create synonym 'Unresponsive' for HP:0025237 +create synonym 'Prolactinoma' for HP:0006767 +create synonym 'Recurrent hypersomnia' for HP:0007200 +create synonym 'Idiopathic hypersomnia' for HP:0007200 +create synonym 'Bronchopulmonary sequestration' for HP:0100632 +create synonym 'Intimal mucoid oedema within arcuate veins' for HP:0033880 +create synonym 'Asthenozoospermia' for HP:0012207 +create synonym 'Morphological abnormality of the pyramidal tract' for HP:0002062 +create synonym 'Elevated circulating 16:0 acylcarnitine concentration' for HP:0033382 +create synonym 'Abnormality of olfactory lobe morphology' for HP:0025057 +create synonym 'Sleep apnea' for HP:0010535 +create synonym 'Prenatal ultrasound: bowel loops dilated' for HP:4000140 +create synonym 'Organised thrombi within arcuate vein lumen' for HP:0033878 +create synonym 'Morphological abnormality of the inner ear' for HP:0011390 +create synonym 'Delayed sleep onset' for HP:0031874 +create synonym 'Hair sulphur content reduced' for HP:0034425 +create synonym 'Abnormal circulating thyroglobulin level' for HP:0025483 +create synonym 'Abnormality of the ductus choledochus' for HP:0100889 +create synonym 'Abnormality of immune serum protein physiology' for HP:0011111 +create synonym 'Abnormality of enteric neuron morphology' for HP:0025029 +create synonym 'Nitrous oxide addiction' for HP:4000128 +create synonym 'Morphological abnormality of the semicircular canal' for HP:0011380 +create synonym 'Elevations in faecal chloride concentration' for HP:0034470 +create synonym 'Abnormality of digestive system morphology' for HP:0025033 +remove synonym 'Brain calcification' for HP:0002514 +remove synonym 'Intracranial calcification' for HP:0002514 +remove synonym 'Intracranial calcifications' for HP:0002514 +remove synonym 'Intracerebral calcifications' for HP:0002514 +create synonym 'Abnormality of cardiovascular system morphology' for HP:0030680 +create synonym 'Foetal PAD narrowing-closure' for HP:0025675 +create synonym 'Idiopathic constriction of the foetal ductus arteriosus' for HP:0025675 +create synonym 'Foetal PDA narrowing-closure' for HP:0025675 +create synonym 'Foetal arterial duct narrowing-closure' for HP:0025675 +create synonym 'Foetal ductus arteriosus narrowing-closure' for HP:0025675 +create synonym 'Increased circulating guanidinoacetic acid concentration' for HP:0034321 +create synonym 'Abnormality of brain morphology' for HP:0012443 +create synonym 'Extralobar sequestration' for HP:0006544 +create synonym 'Extrapulmonary sequestrum' for HP:0006544 +create synonym 'Carnitine high in urine' for HP:0020077 +create synonym 'Abnormality of optic chiasm morphology' for HP:0025163 +create synonym 'Reduced circulating vitamin B6 level' for HP:0008326 +create synonym 'Stimulant addiction' for HP:0033512 +create synonym 'Abnormality of the peritoneum' for HP:0002585 +create synonym 'Hypoplastic vagina' for HP:0008726 +create synonym 'Melanin reduced in substantia nigra' for HP:0034694 +create synonym 'Absent toes' for HP:0010760 +create synonym 'Low levels of vitamin K' for HP:0011892 +create synonym 'Suicidal perseveration' for HP:0031589 +create synonym 'Abnormality of neutrophil morphology' for HP:0011992 +create synonym 'Abnormality of the musculature of the thigh' for HP:0001441 +create synonym 'Abnormal faecal test result' for HP:0031685 +create synonym 'Morphological abnormality of the lateral semicircular canal' for HP:0040106 +create synonym 'Lower blood homocysteine' for HP:0020222 +create synonym 'Morphological abnormality of the papillary muscles' for HP:0025445 +create synonym 'Abnormality of tibia morphology' for HP:0002992 +create synonym 'Reversed sleep-wake cycle' for HP:0031849 +create synonym 'Sleep rhythm inversion' for HP:0031849 +create synonym 'Low levels of vitamin A' for HP:0004905 +create synonym 'Middle insomnia' for HP:0031355 +create synonym 'Insomnia middle' for HP:0031355 +create synonym 'Foetal medication or drug exposure' for HP:0034756 +create synonym 'Fetal medication or drug exposure' for HP:0034756 +create synonym 'Maternal exposure history' for HP:0034756 +create synonym 'Emotionally unstable personality disorder' for HP:0012076 +create synonym 'EUPD' for HP:0012076 +create synonym 'Abnormality of primary molar morphology' for HP:0006344 +create synonym 'Low levels of vitamin D' for HP:0100512 +create synonym 'Macrogyria' for HP:0001302 +create synonym 'Abnormal mood/emotion/affect/thought' for HP:0100851 +create synonym 'Abnormal emotion processing' for HP:0100851 +create synonym 'Emotion dysregulation' for HP:0100851 +create synonym 'Abnormal mood/emotion/affect' for HP:0100851 +create synonym 'Piebaldism' for HP:0007544 +create synonym 'Late foetal death' for HP:0003826 +create synonym 'Foetal demise' for HP:0003826 +create synonym 'Organised thrombi within arcuate arterial lumen' for HP:0033899 +create synonym 'Morphological abnormality of the gastrointestinal tract' for HP:0012718 +create synonym 'Sleep disturbance' for HP:0002360 +remove synonym 'Renal parenchymal abcess' for HP:0032620 +create synonym 'Renal parenchymal abscess' for HP:0032620 +create synonym 'Heroin addiction' for HP:0033517 +create synonym 'Emotional reactivity' for HP:0041092 +create synonym 'Delayed milestone development' for HP:0012434 +create synonym 'Reduced serum alpha-1-antitrypsin' for HP:0032025 +create synonym 'Synovial hypertrophy' for HP:0005186 +create synonym 'Synovial hyperplasia' for HP:0005186 +create synonym 'Structural foetal anomaly' for HP:0034058 +create synonym 'Antimicrosomal antibody positivity' for HP:0025379 +create synonym 'Antimicrosomal antibodies' for HP:0025379 +remove synonym 'Spondyloepiphyseal dysplasia tarda' for HP:0002655 +create synonym 'Low levels of vitamin C' for HP:0100510 +create synonym 'Irritable mood' for HP:0000737 +create synonym 'Increased level of D-threitol in CSF' for HP:0410058 +create synonym 'Obsessive dieting' for HP:0002039 +create synonym 'Deliberately not eating' for HP:0002039 +create synonym 'Refusing to eat' for HP:0002039 +create synonym 'High distractibility' for HP:0000736 +create synonym 'Easy distractibility' for HP:0000736 +create synonym 'ODD' for HP:0010865 +create synonym 'Lateral eyebrow flare' for HP:0007933 +create synonym 'Abnormality of small intestinal villus morphology' for HP:0011472 +create synonym 'Drug addiction' for HP:0033511 +create synonym 'Addictive drug use' for HP:0033511 +create synonym 'Increased serum lactate' for HP:0002151 +create synonym 'Intestinal polyps' for HP:0005266 +create synonym 'Abnormality of skin morphology' for HP:0011121 +create synonym 'Morphological abnormality of the corticospinal tract' for HP:0002492 +create synonym 'Grade IV foetal intracranial haemorrhage' for HP:0034219 +remove synonym 'Abnormality of vitamin E metabolism' for HP:0100514 +create synonym 'Abnormality of the odontoid process' for HP:0003310 +create synonym 'Elevated circulating C8:1 acylcarnitine concentration' for HP:0033440 +create synonym 'Elevated circulating C6:0 acylcarnitine concentration' for HP:0033441 +create synonym 'Organised thrombi within interlobular arterial lumen' for HP:0033951 +create synonym 'Smooth muscle antibody positivity' for HP:0003262 +remove synonym 'Abnormal vertebral bodies' for HP:0003468 +create synonym 'Occlusion of small pulmonary arteries' for HP:0004969 +create synonym 'Arhinencephaly' for HP:0002139 +create synonym 'Muscle biopsy: fingerprint bodies at periphery of muscle fibres' for HP:0034508 +create synonym 'Behavioural/psychiatric abnormality' for HP:0000708 +create synonym 'Generalized joint laxity' for HP:0002761 +create synonym 'Fused eyelid' for HP:0009755 +create synonym 'Oligospermia' for HP:0000798 +create synonym 'Lumbago' for HP:0003419 +create synonym 'Elevated circulating C5-DC acylcarnitine concentration' for HP:0033442 +create synonym 'Enlarged aorta' for HP:0004942 +create synonym 'Hilar adenopathy' for HP:0034388 +delete edge HP:0034039 rdfs:subClassOf HP:0034041 +move HP:0034039 rdfs:subClassOf None from None to None +move HP:0100786 rdfs:subClassOf None from None to None +delete edge HP:0006121 rdfs:subClassOf HP:0007460 +delete edge HP:0033443 rdfs:subClassOf HP:0045045 +move HP:0033443 rdfs:subClassOf None from None to None +delete edge HP:0031588 rdfs:subClassOf HP:0100851 +move HP:0031588 rdfs:subClassOf None from None to None +move HP:0000202 rdfs:subClassOf None from None to None +delete edge HP:0033439 rdfs:subClassOf HP:0045045 +move HP:0033439 rdfs:subClassOf None from None to None +delete edge HP:0034616 rdfs:subClassOf HP:0032180 +move HP:0034616 rdfs:subClassOf None from None to None +delete edge HP:0007302 rdfs:subClassOf HP:0100754 +delete edge HP:0007302 rdfs:subClassOf HP:0031466 +move HP:0007302 rdfs:subClassOf None from None to None +delete edge HP:0001335 rdfs:subClassOf HP:0100022 +move HP:0001335 rdfs:subClassOf None from None to None +delete edge HP:0032505 rdfs:subClassOf HP:0000708 +move HP:0032505 rdfs:subClassOf None from None to None +delete edge HP:0000752 rdfs:subClassOf HP:5200045 +move HP:0000752 rdfs:subClassOf None from None to None +delete edge HP:0033446 rdfs:subClassOf HP:0045045 +move HP:0033446 rdfs:subClassOf None from None to None +delete edge HP:0001442 rdfs:subClassOf HP:0000005 +move HP:0001442 rdfs:subClassOf None from None to None +move HP:0000744 rdfs:subClassOf None from None to None +delete edge HP:0032069 rdfs:subClassOf HP:0030057 +move HP:0032069 rdfs:subClassOf None from None to None +delete edge HP:0002837 rdfs:subClassOf HP:0002788 +move HP:0002837 rdfs:subClassOf None from None to None +delete edge HP:0010524 rdfs:subClassOf HP:0011446 +move HP:0010524 rdfs:subClassOf None from None to None +delete edge HP:0034574 rdfs:subClassOf HP:0034573 +move HP:0034574 rdfs:subClassOf None from None to None +delete edge HP:0011107 rdfs:subClassOf HP:0032154 +move HP:0011107 rdfs:subClassOf None from None to None +move HP:0030809 rdfs:subClassOf None from None to None +delete edge HP:0000863 rdfs:subClassOf HP:0011751 +delete edge HP:0000388 rdfs:subClassOf HP:0000370 +move HP:0000388 rdfs:subClassOf None from None to None +delete edge HP:0033386 rdfs:subClassOf HP:0032180 +move HP:0033386 rdfs:subClassOf None from None to None +delete edge HP:0100753 rdfs:subClassOf HP:0000708 +move HP:0100753 rdfs:subClassOf None from None to None +delete edge HP:0031469 rdfs:subClassOf HP:0031466 +move HP:0031469 rdfs:subClassOf None from None to None +delete edge HP:0100754 rdfs:subClassOf HP:0000708 +move HP:0100754 rdfs:subClassOf None from None to None +move HP:0100754 rdfs:subClassOf None from None to None +delete edge HP:0040202 rdfs:subClassOf HP:5200045 +move HP:0040202 rdfs:subClassOf None from None to None +delete edge HP:0010569 rdfs:subClassOf HP:0003107 +move HP:0010569 rdfs:subClassOf None from None to None +delete edge HP:0030270 rdfs:subClassOf HP:0030272 +move HP:0030270 rdfs:subClassOf None from None to None +delete edge HP:0000722 rdfs:subClassOf HP:0031432 +move HP:0000722 rdfs:subClassOf None from None to None +move HP:0002519 rdfs:subClassOf None from None to None +delete edge HP:0006094 rdfs:subClassOf HP:0001382 +move HP:0006094 rdfs:subClassOf None from None to None +delete edge HP:0100024 rdfs:subClassOf HP:0100851 +move HP:0100024 rdfs:subClassOf None from None to None +move HP:0030810 rdfs:subClassOf None from None to None +delete edge HP:0008763 rdfs:subClassOf HP:0000735 +move HP:0008763 rdfs:subClassOf None from None to None +delete edge HP:0033464 rdfs:subClassOf HP:0045045 +move HP:0033464 rdfs:subClassOf None from None to None +delete edge HP:0004364 rdfs:subClassOf HP:0032180 +move HP:0004364 rdfs:subClassOf None from None to None +delete edge HP:0100705 rdfs:subClassOf HP:0002011 +move HP:0100705 rdfs:subClassOf None from None to None +delete edge HP:0005072 rdfs:subClassOf HP:0001382 +move HP:0005072 rdfs:subClassOf None from None to None +delete edge HP:0033405 rdfs:subClassOf HP:0032180 +move HP:0033405 rdfs:subClassOf None from None to None +delete edge HP:0030050 rdfs:subClassOf HP:0002360 +move HP:0030050 rdfs:subClassOf None from None to None +delete edge HP:0033381 rdfs:subClassOf HP:0012071 +move HP:0033381 rdfs:subClassOf None from None to None +delete edge HP:0012206 rdfs:subClassOf HP:0000025 +move HP:0012206 rdfs:subClassOf None from None to None +move HP:0001374 rdfs:subClassOf None from None to None +delete edge HP:5200021 rdfs:subClassOf HP:0012433 +move HP:5200021 rdfs:subClassOf None from None to None +delete edge HP:0010960 rdfs:subClassOf HP:4000059 +delete edge HP:0030273 rdfs:subClassOf HP:0030272 +move HP:0030273 rdfs:subClassOf None from None to None +delete edge HP:0032942 rdfs:subClassOf HP:0033676 +move HP:0032942 rdfs:subClassOf None from None to None +delete edge HP:0020150 rdfs:subClassOf HP:0020129 +move HP:0020150 rdfs:subClassOf None from None to None +delete edge HP:0040134 rdfs:subClassOf HP:0032243 +delete edge HP:0040134 rdfs:subClassOf HP:0410042 +move HP:0040134 rdfs:subClassOf None from None to None +delete edge HP:0040278 rdfs:subClassOf HP:0040277 +delete edge HP:0004397 rdfs:subClassOf HP:0004378 +move HP:0004397 rdfs:subClassOf None from None to None +delete edge HP:5200044 rdfs:subClassOf HP:0000708 +move HP:5200044 rdfs:subClassOf None from None to None +delete edge HP:0010472 rdfs:subClassOf HP:0032180 +move HP:0010472 rdfs:subClassOf None from None to None +delete edge HP:5200130 rdfs:subClassOf HP:5200045 +move HP:5200130 rdfs:subClassOf None from None to None +delete edge HP:0034712 rdfs:subClassOf HP:0012379 +move HP:0034712 rdfs:subClassOf None from None to None +delete edge HP:4000163 rdfs:subClassOf HP:0012379 +move HP:4000163 rdfs:subClassOf None from None to None +delete edge HP:5200027 rdfs:subClassOf HP:0012760 +move HP:5200027 rdfs:subClassOf None from None to None +delete edge HP:0000756 rdfs:subClassOf HP:0100852 +move HP:0000756 rdfs:subClassOf None from None to None +delete edge HP:0034189 rdfs:subClassOf HP:0030057 +move HP:0034189 rdfs:subClassOf None from None to None +delete edge HP:0006960 rdfs:subClassOf HP:0002514 +move HP:0006960 rdfs:subClassOf None from None to None +delete edge HP:0007378 rdfs:subClassOf HP:0011793 +move HP:0007378 rdfs:subClassOf None from None to None +delete edge HP:0032154 rdfs:subClassOf HP:0011830 +move HP:0032154 rdfs:subClassOf None from None to None +move HP:0004053 rdfs:subClassOf None from None to None +delete edge HP:0009789 rdfs:subClassOf HP:0004378 +move HP:0009789 rdfs:subClassOf None from None to None +delete edge HP:0008572 rdfs:subClassOf HP:0000377 +delete edge HP:0001388 rdfs:subClassOf HP:0011729 +delete edge HP:0033465 rdfs:subClassOf HP:0045045 +move HP:0033465 rdfs:subClassOf None from None to None +delete edge HP:0012452 rdfs:subClassOf HP:0002360 +move HP:0012452 rdfs:subClassOf None from None to None +move HP:0012452 rdfs:subClassOf None from None to None +delete edge HP:0033594 rdfs:subClassOf HP:0033354 +move HP:0033594 rdfs:subClassOf None from None to None +delete edge HP:0002186 rdfs:subClassOf HP:0011446 +delete edge HP:0034041 rdfs:subClassOf HP:0006682 +delete edge HP:0012113 rdfs:subClassOf HP:0032180 +move HP:0012113 rdfs:subClassOf None from None to None +delete edge HP:0033462 rdfs:subClassOf HP:0045045 +move HP:0033462 rdfs:subClassOf None from None to None +delete edge HP:0009094 rdfs:subClassOf HP:0010289 +move HP:0009094 rdfs:subClassOf None from None to None +delete edge HP:0030437 rdfs:subClassOf HP:0004378 +move HP:0030437 rdfs:subClassOf None from None to None +delete edge HP:0031467 rdfs:subClassOf HP:0031466 +move HP:0031467 rdfs:subClassOf None from None to None +delete edge HP:0006803 rdfs:subClassOf HP:0000738 +move HP:0006803 rdfs:subClassOf None from None to None +move HP:0032509 rdfs:subClassOf None from None to None +delete edge HP:0100852 rdfs:subClassOf HP:0031466 +move HP:0100852 rdfs:subClassOf None from None to None +delete edge HP:0001180 rdfs:subClassOf HP:0009380 +delete edge HP:0001180 rdfs:subClassOf HP:0012165 +move HP:0025236 rdfs:subClassOf None from None to None +delete edge HP:0009737 rdfs:subClassOf HP:0000525 +move HP:0009737 rdfs:subClassOf None from None to None +delete edge HP:0034476 rdfs:subClassOf HP:0031685 +move HP:0034476 rdfs:subClassOf None from None to None +delete edge HP:0000735 rdfs:subClassOf HP:0000729 +delete edge HP:0000735 rdfs:subClassOf HP:0012433 +move HP:0000735 rdfs:subClassOf None from None to None +delete edge HP:5200001 rdfs:subClassOf HP:0034434 +move HP:5200001 rdfs:subClassOf None from None to None +delete edge HP:0034116 rdfs:subClassOf HP:0030057 +delete edge HP:0012071 rdfs:subClassOf HP:0010967 +move HP:0012071 rdfs:subClassOf None from None to None +delete edge HP:0410031 rdfs:subClassOf HP:0000175 +move HP:0410031 rdfs:subClassOf None from None to None +move HP:0410031 rdfs:subClassOf None from None to None +move HP:0410031 rdfs:subClassOf None from None to None +delete edge HP:0006932 rdfs:subClassOf HP:0000725 +move HP:0006932 rdfs:subClassOf None from None to None +delete edge HP:0033444 rdfs:subClassOf HP:0045045 +move HP:0033444 rdfs:subClassOf None from None to None +delete edge HP:0033919 rdfs:subClassOf HP:0033879 +delete edge HP:0004378 rdfs:subClassOf HP:0012732 +move HP:0004378 rdfs:subClassOf None from None to None +delete edge HP:0032940 rdfs:subClassOf HP:0000708 +move HP:0032940 rdfs:subClassOf None from None to None +move HP:0005242 rdfs:subClassOf None from None to None +delete edge HP:0500180 rdfs:subClassOf HP:0032180 +move HP:0500180 rdfs:subClassOf None from None to None +delete edge HP:0000746 rdfs:subClassOf HP:0000708 +move HP:0000746 rdfs:subClassOf None from None to None +delete edge HP:0100962 rdfs:subClassOf HP:0012433 +move HP:0100962 rdfs:subClassOf None from None to None +delete edge HP:0030223 rdfs:subClassOf HP:0000708 +move HP:0030223 rdfs:subClassOf None from None to None +delete edge HP:0030955 rdfs:subClassOf HP:0030858 +move HP:0030955 rdfs:subClassOf None from None to None +delete edge HP:0000718 rdfs:subClassOf HP:0006919 +move HP:0000718 rdfs:subClassOf None from None to None +move HP:0011819 rdfs:subClassOf None from None to None +delete edge HP:0033484 rdfs:subClassOf HP:0045045 +move HP:0033484 rdfs:subClassOf None from None to None +delete edge HP:0100716 rdfs:subClassOf HP:0006919 +move HP:0100716 rdfs:subClassOf None from None to None +delete edge HP:0030440 rdfs:subClassOf HP:0004378 +delete edge HP:0011131 rdfs:subClassOf HP:0004378 +move HP:0011131 rdfs:subClassOf None from None to None +delete edge HP:0011999 rdfs:subClassOf HP:0000746 +move HP:0011999 rdfs:subClassOf None from None to None +delete edge HP:0033063 rdfs:subClassOf HP:0002360 +move HP:0033063 rdfs:subClassOf None from None to None +delete edge HP:0000734 rdfs:subClassOf HP:5200045 +move HP:0000734 rdfs:subClassOf None from None to None +delete edge HP:0000155 rdfs:subClassOf HP:0011830 +move HP:0000155 rdfs:subClassOf None from None to None +delete edge HP:0045086 rdfs:subClassOf HP:0001382 +move HP:0045086 rdfs:subClassOf None from None to None +delete edge HP:5200036 rdfs:subClassOf HP:0012760 +move HP:5200036 rdfs:subClassOf None from None to None +move HP:0030214 rdfs:subClassOf None from None to None +delete edge HP:0007227 rdfs:subClassOf HP:0002536 +delete edge HP:0031868 rdfs:subClassOf HP:0011446 +move HP:0031868 rdfs:subClassOf None from None to None +delete edge HP:0000745 rdfs:subClassOf HP:0100851 +move HP:0000745 rdfs:subClassOf None from None to None +delete edge HP:4000083 rdfs:subClassOf HP:5200004 +delete edge HP:4000083 rdfs:subClassOf HP:5200136 +move HP:4000083 rdfs:subClassOf None from None to None +delete edge HP:0000748 rdfs:subClassOf HP:5200123 +move HP:0000748 rdfs:subClassOf None from None to None +delete edge HP:0000716 rdfs:subClassOf HP:0031466 +move HP:0000716 rdfs:subClassOf None from None to None +move HP:0000716 rdfs:subClassOf None from None to None +delete edge HP:0040262 rdfs:subClassOf HP:0000370 +move HP:0040262 rdfs:subClassOf None from None to None +delete edge HP:0012671 rdfs:subClassOf HP:0000745 +move HP:0012671 rdfs:subClassOf None from None to None +delete edge HP:5200004 rdfs:subClassOf HP:0012760 +move HP:5200004 rdfs:subClassOf None from None to None +delete edge HP:0012154 rdfs:subClassOf HP:0031466 +move HP:0012154 rdfs:subClassOf None from None to None +delete edge HP:0020152 rdfs:subClassOf HP:0001388 +move HP:0020152 rdfs:subClassOf None from None to None +delete edge HP:0000709 rdfs:subClassOf HP:0000708 +move HP:0000709 rdfs:subClassOf None from None to None +delete edge HP:0000751 rdfs:subClassOf HP:0000708 +move HP:0000751 rdfs:subClassOf None from None to None +delete edge HP:0000157 rdfs:subClassOf HP:0000163 +move HP:0000157 rdfs:subClassOf None from None to None +delete edge HP:0031468 rdfs:subClassOf HP:0031466 +move HP:0031468 rdfs:subClassOf None from None to None +delete edge HP:0000719 rdfs:subClassOf HP:0031466 +move HP:0000719 rdfs:subClassOf None from None to None +delete edge HP:0012208 rdfs:subClassOf HP:0012206 +move HP:0012208 rdfs:subClassOf None from None to None +delete edge HP:0012390 rdfs:subClassOf HP:0004378 +move HP:0012390 rdfs:subClassOf None from None to None +move HP:0034793 rdfs:subClassOf None from None to None +delete edge HP:5200022 rdfs:subClassOf HP:5200123 +delete edge HP:0025253 rdfs:subClassOf HP:0100852 +move HP:0025253 rdfs:subClassOf None from None to None +delete edge HP:0010485 rdfs:subClassOf HP:0001382 +move HP:0010485 rdfs:subClassOf None from None to None +delete edge HP:0004354 rdfs:subClassOf HP:0032180 +move HP:0004354 rdfs:subClassOf None from None to None +delete edge HP:0002167 rdfs:subClassOf HP:0011446 +move HP:0002167 rdfs:subClassOf None from None to None +delete edge HP:0030858 rdfs:subClassOf HP:5200045 +move HP:0030858 rdfs:subClassOf None from None to None +delete edge HP:0000757 rdfs:subClassOf HP:0000708 +move HP:0000757 rdfs:subClassOf None from None to None +delete edge HP:0041154 rdfs:subClassOf HP:0009811 +delete edge HP:0033160 rdfs:subClassOf HP:0033161 +move HP:0033160 rdfs:subClassOf None from None to None +delete edge HP:0033676 rdfs:subClassOf HP:0000708 +move HP:0033676 rdfs:subClassOf None from None to None +move HP:0006896 rdfs:subClassOf None from None to None +delete edge HP:0005198 rdfs:subClassOf HP:0005262 +delete edge HP:0025479 rdfs:subClassOf HP:0000708 +move HP:0025479 rdfs:subClassOf None from None to None +delete edge HP:4000009 rdfs:subClassOf HP:0000708 +move HP:4000009 rdfs:subClassOf None from None to None +delete edge HP:0002300 rdfs:subClassOf HP:0000708 +delete edge HP:0025233 rdfs:subClassOf HP:0002360 +move HP:0025233 rdfs:subClassOf None from None to None +move HP:0025233 rdfs:subClassOf None from None to None +delete edge HP:0033447 rdfs:subClassOf HP:0045045 +move HP:0033447 rdfs:subClassOf None from None to None +delete edge HP:0001384 rdfs:subClassOf HP:0005262 +delete edge HP:0031432 rdfs:subClassOf HP:0000708 +move HP:0031432 rdfs:subClassOf None from None to None +delete edge HP:0001444 rdfs:subClassOf HP:0034335 +delete edge HP:5200111 rdfs:subClassOf HP:5200024 +delete edge HP:5200111 rdfs:subClassOf HP:5200020 +delete edge HP:0001345 rdfs:subClassOf HP:0000709 +move HP:0001345 rdfs:subClassOf None from None to None +delete edge HP:0025083 rdfs:subClassOf HP:0011121 +move HP:0025083 rdfs:subClassOf None from None to None +delete edge HP:0010529 rdfs:subClassOf HP:4000072 +move HP:0010529 rdfs:subClassOf None from None to None +delete edge HP:0000976 rdfs:subClassOf HP:0000964 +move HP:0012170 rdfs:subClassOf None from None to None +delete edge HP:0030215 rdfs:subClassOf HP:0000719 +move HP:0030215 rdfs:subClassOf None from None to None +delete edge HP:0001254 rdfs:subClassOf HP:0004372 +move HP:0001254 rdfs:subClassOf None from None to None +delete edge HP:0031473 rdfs:subClassOf HP:0031466 +move HP:0031473 rdfs:subClassOf None from None to None +delete edge HP:0006926 rdfs:subClassOf HP:0002415 +delete edge HP:0005212 rdfs:subClassOf HP:0004378 +move HP:0005212 rdfs:subClassOf None from None to None +delete edge HP:0033705 rdfs:subClassOf HP:0100851 +move HP:0033705 rdfs:subClassOf None from None to None +delete edge HP:0005692 rdfs:subClassOf HP:0001382 +delete edge HP:0010827 rdfs:subClassOf HP:0001291 +move HP:0010827 rdfs:subClassOf None from None to None +delete edge HP:0025237 rdfs:subClassOf HP:0025235 +move HP:0025237 rdfs:subClassOf None from None to None +delete edge HP:0007200 rdfs:subClassOf HP:0004372 +delete edge HP:0033382 rdfs:subClassOf HP:0012071 +move HP:0033382 rdfs:subClassOf None from None to None +delete edge HP:0010535 rdfs:subClassOf HP:0002360 +delete edge HP:0010535 rdfs:subClassOf HP:0002104 +move HP:0010535 rdfs:subClassOf None from None to None +delete edge HP:0010961 rdfs:subClassOf HP:0010960 +delete edge HP:0002024 rdfs:subClassOf HP:0002242 +move HP:0002024 rdfs:subClassOf None from None to None +delete edge HP:0410030 rdfs:subClassOf HP:0000202 +move HP:0410030 rdfs:subClassOf None from None to None +delete edge HP:0032936 rdfs:subClassOf HP:0033676 +move HP:0032936 rdfs:subClassOf None from None to None +delete edge HP:0034434 rdfs:subClassOf HP:0000708 +move HP:0034434 rdfs:subClassOf None from None to None +delete edge HP:0031814 rdfs:subClassOf HP:4000072 +move HP:0031814 rdfs:subClassOf None from None to None +delete edge HP:0031544 rdfs:subClassOf HP:0045045 +move HP:0031544 rdfs:subClassOf None from None to None +delete edge HP:0002514 rdfs:subClassOf HP:0010766 +move HP:0002514 rdfs:subClassOf None from None to None +move HP:0100335 rdfs:subClassOf None from None to None +delete edge HP:0033516 rdfs:subClassOf HP:0033511 +move HP:0033516 rdfs:subClassOf None from None to None +delete edge HP:0045087 rdfs:subClassOf HP:0001382 +move HP:0045087 rdfs:subClassOf None from None to None +delete edge HP:0031516 rdfs:subClassOf HP:0033338 +move HP:0031516 rdfs:subClassOf None from None to None +delete edge HP:0031433 rdfs:subClassOf HP:0000729 +move HP:0031433 rdfs:subClassOf None from None to None +move HP:0031433 rdfs:subClassOf None from None to None +delete edge HP:0003119 rdfs:subClassOf HP:0032180 +move HP:0003119 rdfs:subClassOf None from None to None +delete edge HP:0025321 rdfs:subClassOf HP:0032243 +move HP:0025321 rdfs:subClassOf None from None to None +delete edge HP:0031097 rdfs:subClassOf HP:0012503 +move HP:0031097 rdfs:subClassOf None from None to None +delete edge HP:0025160 rdfs:subClassOf HP:0000708 +move HP:0025160 rdfs:subClassOf None from None to None +delete edge HP:0001428 rdfs:subClassOf HP:0034335 +delete edge HP:0031589 rdfs:subClassOf HP:0100851 +move HP:0031589 rdfs:subClassOf None from None to None +delete edge HP:0005620 rdfs:subClassOf HP:0001382 +move HP:0005620 rdfs:subClassOf None from None to None +delete edge HP:0002023 rdfs:subClassOf HP:0004378 +move HP:0002023 rdfs:subClassOf None from None to None +delete edge HP:0010447 rdfs:subClassOf HP:0004378 +move HP:0010447 rdfs:subClassOf None from None to None +move HP:0002006 rdfs:subClassOf None from None to None +delete edge HP:5200102 rdfs:subClassOf HP:0012760 +delete edge HP:5200102 rdfs:subClassOf HP:4000075 +move HP:5200102 rdfs:subClassOf None from None to None +delete edge HP:0025319 rdfs:subClassOf HP:0007905 +delete edge HP:0033845 rdfs:subClassOf HP:0100852 +move HP:0033845 rdfs:subClassOf None from None to None +delete edge HP:0000711 rdfs:subClassOf HP:5200045 +move HP:0000711 rdfs:subClassOf None from None to None +delete edge HP:0000738 rdfs:subClassOf HP:0000708 +move HP:0000738 rdfs:subClassOf None from None to None +delete edge HP:0010962 rdfs:subClassOf HP:0010960 +move HP:0034756 rdfs:subClassOf None from None to None +delete edge HP:0009101 rdfs:subClassOf HP:0000204 +move HP:0009101 rdfs:subClassOf None from None to None +delete edge HP:0034526 rdfs:subClassOf HP:0012379 +move HP:0034526 rdfs:subClassOf None from None to None +delete edge HP:0033694 rdfs:subClassOf HP:0000738 +move HP:0033694 rdfs:subClassOf None from None to None +delete edge HP:0008760 rdfs:subClassOf HP:0006919 +move HP:0008760 rdfs:subClassOf None from None to None +delete edge HP:5200006 rdfs:subClassOf HP:4000072 +move HP:5200006 rdfs:subClassOf None from None to None +delete edge HP:0100851 rdfs:subClassOf HP:0000708 +move HP:0100851 rdfs:subClassOf None from None to None +delete edge HP:0025269 rdfs:subClassOf HP:0100852 +move HP:0025269 rdfs:subClassOf None from None to None +delete edge HP:0011814 rdfs:subClassOf HP:0033354 +move HP:0011814 rdfs:subClassOf None from None to None +delete edge HP:0002360 rdfs:subClassOf HP:0000708 +move HP:0002360 rdfs:subClassOf None from None to None +delete edge HP:0040268 rdfs:subClassOf HP:0000370 +delete edge HP:0040268 rdfs:subClassOf HP:0002719 +delete edge HP:0030272 rdfs:subClassOf HP:0012379 +move HP:0030272 rdfs:subClassOf None from None to None +delete edge HP:0003059 rdfs:subClassOf HP:0005262 +delete edge HP:0010513 rdfs:subClassOf HP:0002514 +move HP:0010513 rdfs:subClassOf None from None to None +delete edge HP:0000725 rdfs:subClassOf HP:0000709 +move HP:0000725 rdfs:subClassOf None from None to None +move HP:0041092 rdfs:subClassOf None from None to None +delete edge HP:0004058 rdfs:subClassOf HP:0001180 +move HP:0004058 rdfs:subClassOf None from None to None +delete edge HP:0001289 rdfs:subClassOf HP:0004372 +move HP:0001289 rdfs:subClassOf None from None to None +delete edge HP:0025379 rdfs:subClassOf HP:0030057 +move HP:0025379 rdfs:subClassOf None from None to None +delete edge HP:0025267 rdfs:subClassOf HP:0002793 +delete edge HP:0025267 rdfs:subClassOf HP:0002360 +move HP:0025267 rdfs:subClassOf None from None to None +delete edge HP:0031863 rdfs:subClassOf HP:0001939 +move HP:0031863 rdfs:subClassOf None from None to None +delete edge HP:0010527 rdfs:subClassOf HP:0011730 +delete edge HP:0010527 rdfs:subClassOf HP:0010524 +move HP:0010527 rdfs:subClassOf None from None to None +move HP:0002039 rdfs:subClassOf None from None to None +move HP:0031303 rdfs:subClassOf None from None to None +delete edge HP:0000723 rdfs:subClassOf HP:0000729 +move HP:0000723 rdfs:subClassOf None from None to None +delete edge HP:0010865 rdfs:subClassOf HP:0000708 +move HP:0010865 rdfs:subClassOf None from None to None +delete edge HP:0000176 rdfs:subClassOf HP:0410031 +move HP:0000176 rdfs:subClassOf None from None to None +move HP:0000176 rdfs:subClassOf None from None to None +delete edge HP:0011013 rdfs:subClassOf HP:0032180 +move HP:0011013 rdfs:subClassOf None from None to None +delete edge HP:0008768 rdfs:subClassOf HP:0000719 +move HP:0008768 rdfs:subClassOf None from None to None +delete edge HP:0033440 rdfs:subClassOf HP:0045045 +move HP:0033440 rdfs:subClassOf None from None to None +delete edge HP:0031903 rdfs:subClassOf HP:0032180 +move HP:0031903 rdfs:subClassOf None from None to None +delete edge HP:0033441 rdfs:subClassOf HP:0045045 +move HP:0033441 rdfs:subClassOf None from None to None +delete edge HP:0006210 rdfs:subClassOf HP:0001180 +move HP:0006210 rdfs:subClassOf None from None to None +delete edge HP:0033159 rdfs:subClassOf HP:0033161 +move HP:0033159 rdfs:subClassOf None from None to None +delete edge HP:0000739 rdfs:subClassOf HP:0100852 +move HP:0000739 rdfs:subClassOf None from None to None +delete edge HP:0100250 rdfs:subClassOf HP:0002514 +move HP:0100250 rdfs:subClassOf None from None to None +delete edge HP:0002139 rdfs:subClassOf HP:0002323 +move HP:0002139 rdfs:subClassOf None from None to None +delete edge HP:0002761 rdfs:subClassOf HP:0001388 +move HP:0002761 rdfs:subClassOf None from None to None +delete edge HP:0033461 rdfs:subClassOf HP:0045045 +move HP:0033461 rdfs:subClassOf None from None to None +delete edge HP:0006230 rdfs:subClassOf HP:0001180 +move HP:0006230 rdfs:subClassOf None from None to None +delete edge HP:0410291 rdfs:subClassOf HP:0000708 +move HP:0410291 rdfs:subClassOf None from None to None +delete edge HP:0003528 rdfs:subClassOf HP:0100530 +move HP:0003528 rdfs:subClassOf None from None to None +delete edge HP:0002025 rdfs:subClassOf HP:0004378 +move HP:0002025 rdfs:subClassOf None from None to None +delete edge HP:0005639 rdfs:subClassOf HP:0001382 +move HP:0005639 rdfs:subClassOf None from None to None +delete edge HP:0040082 rdfs:subClassOf HP:0100851 +move HP:0040082 rdfs:subClassOf None from None to None +move HP:0033625 rdfs:subClassOf None from None to None +move HP:0033625 rdfs:subClassOf None from None to None +delete edge HP:0033442 rdfs:subClassOf HP:0045045 +move HP:0033442 rdfs:subClassOf None from None to None diff --git a/src/ontology/reports/difference_release_base.yaml b/src/ontology/reports/difference_release_base.yaml new file mode 100644 index 000000000..5b52868dc --- /dev/null +++ b/src/ontology/reports/difference_release_base.yaml @@ -0,0 +1,15538 @@ +id: uuid:a88138bd-d7f7-4a9d-8605-4c6a745cae1f +type: ClassCreation +about_node: HP:6000067 + +--- +id: uuid:032a30ed-8ef3-42ac-8ad3-3d926b30c9aa +type: ClassCreation +about_node: HP:0020241 + +--- +id: uuid:44fbd48f-ed1f-4d72-b3a9-02054b17b6fa +type: ClassCreation +about_node: HP:6000146 + +--- +id: uuid:e31ae3ab-fb6b-47db-b1f0-341e6caa842d +type: ClassCreation +about_node: HP:0034984 + +--- +id: uuid:d329d59a-94d8-4d0c-8852-cfec960eb5ed +type: ClassCreation +about_node: HP:6000252 + +--- +id: uuid:e0825021-912b-4b96-84f6-f6bedeab8333 +type: ClassCreation +about_node: HP:0034806 + +--- +id: uuid:c8804e8a-6dd9-4a00-970d-29945b741ff7 +type: ClassCreation +about_node: HP:6000086 + +--- +id: uuid:eec99ed8-c88a-43ff-be0a-c8f42d36a224 +type: ClassCreation +about_node: HP:0034875 + +--- +id: uuid:95135a1c-a623-4473-92b8-c7da72da1ced +type: ClassCreation +about_node: HP:0430080 + +--- +id: uuid:aacee206-8867-426b-bcc5-67be6e32bfe7 +type: ClassCreation +about_node: HP:6000046 + +--- +id: uuid:33b44dd7-e75e-48ea-8f22-9da11a5e1154 +type: ClassCreation +about_node: HP:0034993 + +--- +id: uuid:7c4cc94a-7c0c-4bdf-b521-3bbc74b74908 +type: ClassCreation +about_node: HP:5200231 + +--- +id: uuid:d86c777b-cae8-4cc9-be66-5ad8ae133a75 +type: ClassCreation +about_node: HP:6000223 + +--- +id: uuid:84a5ad16-df65-4c28-be93-1998976c1ef8 +type: ClassCreation +about_node: HP:0430079 + +--- +id: uuid:90e16aaf-e512-4277-ab8c-9d5294bfe49a +type: ClassCreation +about_node: HP:5200205 + +--- +id: uuid:37d71254-13d0-4e4d-999f-5a2cf517735e +type: ClassCreation +about_node: HP:0034944 + +--- +id: uuid:0ff7e1e2-51b2-4f2d-8416-3375f36f85f5 +type: ClassCreation +about_node: HP:6000253 + +--- +id: uuid:89c12e18-67f7-4ccf-bba9-022c8240da10 +type: ClassCreation +about_node: HP:0034814 + +--- +id: uuid:b713317b-7499-4a94-92cb-6939602ec789 +type: ClassCreation +about_node: HP:0034897 + +--- +id: uuid:f8c7ae5e-ad01-48cc-b1e7-7768942671d0 +type: ClassCreation +about_node: HP:0020224 + +--- +id: uuid:0eca73bc-ee96-4e5f-884f-bf4a4ed79282 +type: ClassCreation +about_node: HP:6000195 + +--- +id: uuid:24e0e684-38f9-4094-9723-40513abe642b +type: ClassCreation +about_node: HP:4000203 + +--- +id: uuid:c769d168-d588-429c-b4da-6ceffb57d713 +type: ClassCreation +about_node: HP:0020236 + +--- +id: uuid:1520548b-fdd7-42ed-81b3-660d5b9c27bc +type: ClassCreation +about_node: HP:5200413 + +--- +id: uuid:408e4e0d-cd39-4497-9e9c-e3755800237d +type: ClassCreation +about_node: HP:0430037 + +--- +id: uuid:0542464b-f6aa-4944-b96a-be4fd4cf22fa +type: ClassCreation +about_node: HP:0040422 + +--- +id: uuid:4f017c42-90c0-48ea-adec-59649e8ed0fd +type: ClassCreation +about_node: HP:6000109 + +--- +id: uuid:20d1c70f-2802-4475-9550-90498ad03902 +type: ClassCreation +about_node: HP:0034901 + +--- +id: uuid:18236f82-389a-4f29-83bc-6910d71f4a32 +type: ClassCreation +about_node: HP:0034937 + +--- +id: uuid:9852d212-86c3-40ca-b24e-f83f92989d16 +type: ClassCreation +about_node: HP:0040410 + +--- +id: uuid:d441a628-7515-4010-8586-cbf4c0d14b91 +type: ClassCreation +about_node: HP:4000212 + +--- +id: uuid:ab033de7-aab4-408c-bea2-5241c2f90782 +type: ClassCreation +about_node: HP:6000032 + +--- +id: uuid:66498d22-0e22-4e8a-8292-8c4008bdc7e5 +type: ClassCreation +about_node: HP:6000250 + +--- +id: uuid:958add8a-60ad-4c4e-afb1-47a5508e26cd +type: ClassCreation +about_node: HP:0020230 + +--- +id: uuid:9175cbff-9694-4abb-a807-52468751b1a5 +type: ClassCreation +about_node: HP:0020281 + +--- +id: uuid:0ac9f143-d403-4d31-b0c3-fb0b3b1e4041 +type: ClassCreation +about_node: HP:0430059 + +--- +id: uuid:ec1a3e14-490f-495c-a839-6a5c14f6c187 +type: ClassCreation +about_node: HP:6000041 + +--- +id: uuid:2e1b2050-fc4f-4afe-a3eb-914e17063393 +type: ClassCreation +about_node: HP:0034991 + +--- +id: uuid:bd74a93f-cb4c-44b0-ba0e-d0ede9f516aa +type: ClassCreation +about_node: HP:5200339 + +--- +id: uuid:2690a845-c842-40d6-b8e1-55483e24e721 +type: ClassCreation +about_node: HP:0034854 + +--- +id: uuid:41583c2c-f27c-4667-be23-1bf77093cbb8 +type: ClassCreation +about_node: HP:6000273 + +--- +id: uuid:96f0d731-d377-4ccd-b36c-5ea13c837bfb +type: ClassCreation +about_node: HP:0035001 + +--- +id: uuid:7971e666-b6b1-4878-803c-802b34c9d9c3 +type: ClassCreation +about_node: HP:0430070 + +--- +id: uuid:e02ae81e-01cd-4d79-92db-f075f5ad07ed +type: ClassCreation +about_node: HP:0034859 + +--- +id: uuid:0d200585-c580-48bb-b7fc-42493197fc17 +type: ClassCreation +about_node: HP:5200323 + +--- +id: uuid:80181783-86ac-4e5f-be33-c0202334656f +type: ClassCreation +about_node: HP:6000115 + +--- +id: uuid:7a7e847b-1c1c-46de-a7bf-445eca942523 +type: ClassCreation +about_node: HP:4000202 + +--- +id: uuid:3f547cb0-7720-4b1c-8e8a-02aa50c176cb +type: ClassCreation +about_node: HP:6000087 + +--- +id: uuid:cd631e3a-c03b-475f-8b47-5d54185410df +type: ClassCreation +about_node: HP:6000003 + +--- +id: uuid:b871f07e-15fa-449e-b2b8-3a0b225a0ac9 +type: ClassCreation +about_node: HP:0430045 + +--- +id: uuid:1b3a8650-4d09-42ca-a1d8-1b7267c5a000 +type: ClassCreation +about_node: HP:6000191 + +--- +id: uuid:67c759ce-23c7-41ce-b400-0e0427351e53 +type: ClassCreation +about_node: HP:5200295 + +--- +id: uuid:58981988-acf3-48f4-a224-11916a8fb04d +type: ClassCreation +about_node: HP:0430065 + +--- +id: uuid:7d752e6e-1a77-43ec-8e7a-42fe92c95d03 +type: ClassCreation +about_node: HP:5200238 + +--- +id: uuid:3c45b59e-45a4-4aca-ab93-f5bb7092bd1a +type: ClassCreation +about_node: HP:6000139 + +--- +id: uuid:fd757b01-0187-4196-aa7f-75d6bc6dfc40 +type: ClassCreation +about_node: HP:0035012 + +--- +id: uuid:25d1e95b-3068-45b4-aaf2-64e1aed8d730 +type: ClassCreation +about_node: HP:5200418 + +--- +id: uuid:66a36c80-1f27-4a29-aae8-8ca705f551e0 +type: ClassCreation +about_node: HP:0040409 + +--- +id: uuid:31d57bd1-d4b8-438c-bfa2-a6614ee47a41 +type: ClassCreation +about_node: HP:5200352 + +--- +id: uuid:7245621c-896f-4a04-8ad9-1d9b2fbbdaa3 +type: ClassCreation +about_node: HP:0034909 + +--- +id: uuid:3e7cc2b4-9b42-4da4-ac59-5864688bfab7 +type: ClassCreation +about_node: HP:6000149 + +--- +id: uuid:4debf04b-28a3-4915-a404-11a676c4ea81 +type: ClassCreation +about_node: HP:5200275 + +--- +id: uuid:c6f38c6f-001c-4e26-8477-1116ee25fdfe +type: ClassCreation +about_node: HP:6000258 + +--- +id: uuid:913795fd-0096-4b09-a506-c535cf49a599 +type: ClassCreation +about_node: HP:6000007 + +--- +id: uuid:e1ed7aff-0fba-436d-a345-2a1e566bafe6 +type: ClassCreation +about_node: HP:0034851 + +--- +id: uuid:5a99a7c0-417e-4468-af92-b41cd34de27a +type: ClassCreation +about_node: HP:6000075 + +--- +id: uuid:d29ce3bf-7511-4baa-bf54-3697de740dbb +type: ClassCreation +about_node: HP:5200322 + +--- +id: uuid:3c19262d-27c8-41d7-ab97-e161cf007557 +type: ClassCreation +about_node: HP:6000194 + +--- +id: uuid:dc8e1f59-6f6d-493d-a21b-265a0d319bf0 +type: ClassCreation +about_node: HP:5200426 + +--- +id: uuid:90cb6d6c-99b4-4e29-910b-6f68bf363d4a +type: ClassCreation +about_node: HP:0020238 + +--- +id: uuid:68f342f1-db22-455f-bc28-1f802c33bfd5 +type: ClassCreation +about_node: HP:0034855 + +--- +id: uuid:c01cf85a-519c-4a26-90fe-28f0abae5f8d +type: ClassCreation +about_node: HP:0034940 + +--- +id: uuid:75d8d193-044f-48f7-b985-a8bfa4b630cc +type: ClassCreation +about_node: HP:6000176 + +--- +id: uuid:31b41537-5ee6-4f67-a505-63a5bc4e6771 +type: ClassCreation +about_node: HP:5200239 + +--- +id: uuid:81233b0e-49a4-454e-91bd-9d5e4a87911a +type: ClassCreation +about_node: HP:0430091 + +--- +id: uuid:f4cef028-ca42-43cf-b510-e49fda31fa60 +type: ClassCreation +about_node: HP:6000183 + +--- +id: uuid:231e2f04-5c38-430d-b650-490efca72239 +type: ClassCreation +about_node: HP:6000148 + +--- +id: uuid:203e675f-020a-453c-938f-1dded4aea728 +type: ClassCreation +about_node: HP:0034926 + +--- +id: uuid:0a231b00-2f2b-4cc3-bf78-6bf0721a41c6 +type: ClassCreation +about_node: HP:0034836 + +--- +id: uuid:f6801ffa-86b7-4d9b-aa6c-d2471bbe7005 +type: ClassCreation +about_node: HP:0430088 + +--- +id: uuid:272af4c2-f86e-4c9a-88de-344aeba4432f +type: ClassCreation +about_node: HP:6000265 + +--- +id: uuid:e128ff73-e415-4386-b34c-2caf83b25382 +type: ClassCreation +about_node: HP:6000096 + +--- +id: uuid:8307d86d-26a0-4aa3-b582-f8bd35f5a0a7 +type: ClassCreation +about_node: HP:0020245 + +--- +id: uuid:69adce46-65e3-4dd3-9cda-2269ff5e0bec +type: ClassCreation +about_node: HP:6000143 + +--- +id: uuid:1afedcc2-4bde-4879-98f2-7116a292d169 +type: ClassCreation +about_node: HP:0034797 + +--- +id: uuid:c7e64b2d-29e9-4fc1-9b0a-a0f01e80f756 +type: ClassCreation +about_node: HP:6000138 + +--- +id: 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+about_node: HP:0025319 +has_direct_replacement: HP:0011497 + +--- +id: uuid:a5870ee7-e43e-435f-87dd-6535985da71a +type: NodeDirectMerge +about_node: HP:0006926 +has_direct_replacement: HP:0002415 + +--- +id: uuid:0a349015-df29-4f83-9b5f-f7a56c52fdd2 +type: NodeDirectMerge +about_node: HP:0010961 +has_direct_replacement: HP:0011278 + +--- +id: uuid:e1ab757d-591b-4d4e-8846-741ef70ba36d +type: NodeDirectMerge +about_node: HP:0000976 +has_direct_replacement: HP:0000964 + +--- +id: uuid:afe39dfa-6b6b-4854-bb4d-33582b1b686b +type: NodeDirectMerge +about_node: HP:0033919 +has_direct_replacement: HP:0033917 + +--- +id: uuid:2a55a2c2-6f94-46b1-b05e-2a50ea6df414 +type: NodeDirectMerge +about_node: HP:0040278 +has_direct_replacement: HP:0006767 + +--- +id: uuid:0589e57d-b15b-44bd-9412-ad1af89234de +type: NodeDirectMerge +about_node: HP:0001444 +has_direct_replacement: HP:0001442 + +--- +id: uuid:11418721-12df-4218-b157-53dc14748652 +type: NodeDirectMerge +about_node: HP:0008572 +has_direct_replacement: HP:0000377 + +--- +id: uuid:b8b375b0-1e63-4896-b7c5-7aabb44d65a2 +type: NewTextDefinition +new_value: Bipolar disorder is an illness of mood characterized by alternating episodes + of elevated and depressed moods, which are interspersed with euthymic periods. +about_node: HP:0007302 + +--- +id: uuid:d902fc48-0e27-4f06-8b7b-3a3501b52292 +type: NodeRename +old_value: Elevated beta-mannosidase activity +new_value: Elevated circulating beta-mannosidase activity +about_node: HP:0034726 + +--- +id: uuid:b92d84a5-d8f2-4de9-a2e5-86053b2ce4f8 +type: NodeTextDefinitionChange +old_value: A reversal of sleeping habits with a tendency to sleep during the day and + to be awake at night. +new_value: A reversal of sleeping habits, with a tendency to sleep during the day + and be awake at night. +about_node: HP:0031849 + +--- +id: uuid:ef9a462b-62e3-46e8-bf48-e0890836f6b3 +type: NodeRename +old_value: Nasal, dysarthic speech +new_value: Nasal dysarthria +about_node: HP:0008376 + +--- +id: uuid:feccd1e0-55c4-4b0d-9707-8f225075fefe +type: NodeRename +old_value: Abnormality of cardiovascular system morphology +new_value: Abnormal cardiovascular system morphology +about_node: HP:0030680 + +--- +id: uuid:2cd7fd97-cdf4-4465-a36e-269661df57d7 +type: NodeRename +old_value: Abnormal circulating vitamin B6 level +new_value: Abnormal circulating vitamin B6 concentration +about_node: HP:0032476 + +--- +id: uuid:7af785d9-6b13-4173-8aeb-1b56823197e8 +type: NodeTextDefinitionChange +old_value: Fears of rejection by and/or separation from significant others, associated + with fears of excessive dependency and complete loss of autonomy. +new_value: Fears of rejection by and/or separation from significant others are associated + with fears of excessive dependency and complete loss of autonomy. +about_node: HP:0031468 + +--- +id: uuid:e2cc47a7-f21d-403a-82af-9e2f54e628ce +type: NodeTextDefinitionChange +old_value: The presence of arthrosis, i.e., of degenerative joint disease, affecting + the cervical vertebral column. +new_value: Arthrosis, i.e., of degenerative joint disease, affecting the cervical + vertebral column. +about_node: HP:0008480 + +--- +id: uuid:22e6e8b4-57a6-48e4-8a46-01df6fc78fd8 +type: NodeRename +old_value: Abnormality of the calf musculature +new_value: Abnormal calf musculature morphology +about_node: HP:0001430 + +--- +id: uuid:cfbcd307-9ff5-46c4-9b2a-9b2e01257e68 +type: NodeTextDefinitionChange +old_value: Lower than normal amount of keratin 10 in the epidermis. +new_value: Amount of keratin 10 in the epidermis below the lower limit of normal. + The findiong is typically ascertained by immunofluorescent microscopy. +about_node: HP:0034574 + +--- +id: uuid:c592b0e6-4b86-4c04-b57c-941c72d3c018 +type: NodeTextDefinitionChange +old_value: Temper tantrums whose severity is more severe than usual. For instance, + a temper tantrum might be considered to be severe if a child loses control so completely + that the child cannot control the tantrum on its own, continuing until it becomes + exhausted or a parent intervenes. +new_value: Temper tantrums, which occur with more severe symptomatology compared to + a temper tantrum that occurs as a part of normal developmental process. +about_node: HP:0025162 + +--- +id: uuid:dce04fb4-9c82-4486-aa9b-85c5999d714c +type: NodeRename +old_value: Agnosia +new_value: Disturbed sensory perception +about_node: HP:0010524 + +--- +id: uuid:b678d737-aee4-4941-af74-7ee6474ab137 +type: NodeTextDefinitionChange +old_value: Inability to recognize objects not because of sensory deficit but because + of the inability to combine components of sensory impressions into a complete pattern. + Thus, agnosia is a neurological condition which results in an inability to know, + to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. +new_value: Alteration or impairment in the processing or interpretation of sensory + information can lead to abnormal perceptions or experiences. +about_node: HP:0010524 + +--- +id: uuid:5ffb9b94-d82e-44ce-9be5-a16ae64d46dc +type: NodeTextDefinitionChange +old_value: History of events that precede the current presenting condition and are + thought to be of potential relevance, having occured in the hours, days, or weeks + before the current condition. +new_value: History of events that precede the current presenting condition and are + thought to be of potential relevance, having occurred in the hours, days, or weeks + before the current condition. +about_node: HP:4000144 + +--- +id: uuid:66d86728-4154-4cf5-a952-112eb090b886 +type: NodeTextDefinitionChange +old_value: A state of abnormally elevated or irritable mood, arousal, and or energy + levels. +new_value: A state of abnormally elevated or irritable mood, arousal, and/or energy + levels. +about_node: HP:0100754 + +--- +id: uuid:49695b31-dbaa-44fd-a026-1429bbee34e8 +type: NodeRename +old_value: Reduced lactate dehydrogenase B level +new_value: Reduced circulating lactate dehydrogenase concentration +about_node: HP:0045041 + +--- +id: uuid:a44d403b-251c-4fe4-b61e-c8a2f884ad88 +type: NodeTextDefinitionChange +old_value: A decreased or reduced level of the enzyme lactate dehydrogenase in serum. +new_value: Concentration of lactate dehydrogenase in the blood circulation below the + lower limit of normal. +about_node: HP:0045041 + +--- +id: uuid:fa4f0193-dc7a-415b-bd8a-a35a7eeb9d47 +type: NodeTextDefinitionChange +old_value: Behavior that consists of repetitive acts that are characterized by the + feeling that one 'has to' perform them while one is aware that these acts are not + in line with one's overall goal +new_value: Behavior that consists of repetitive acts, characterized by the feeling + that one \"has to\" perform them, while being aware that these acts are not in line + with one's overall goal. +about_node: HP:0000722 + +--- +id: uuid:b3ffdb53-e63e-42d6-b046-34487688f972 +type: NodeTextDefinitionChange +old_value: Difficulty in social interactions related to an impairment of characteristics + such as eye contact, smiling, appropriate facial expressions, and body postures + and characterized by difficulty in forming peer relationships and forming friendships. +new_value: Difficulty interacting with others through emotional, physical, or verbal + communication. +about_node: HP:0000735 + +--- +id: uuid:10d2adf1-8848-495f-b1a9-37c1796cac61 +type: NodeTextDefinitionChange +old_value: A type of insomnia characterized by waking up (too) early in the morning. +new_value: A type of insomnia characterized by waking up too early in the morning + is known as early morning awakening. The termination of sleep must occur at least + 30 minutes before the desired time. +about_node: HP:0031356 + +--- +id: uuid:2e3d2f04-3f18-431a-837f-aa8e8e0c9c80 +type: NodeTextDefinitionChange +old_value: Dminished sexual desire in female. +new_value: Diminished sexual desire in female. +about_node: HP:0030018 + +--- +id: uuid:e9fb04c6-91f4-4e1f-9ccf-ef20595ed3a1 +type: NewTextDefinition +new_value: Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle + fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after + acid pre-incubation and with immunohistochemistry, show intense reactivity with + only slow myosin heavy chain. Electron microscopy of the affected areas show a lack + of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous + nature, containing few scattered nuclei and mitochondria. +about_node: HP:0100306 + +--- +id: uuid:3101836f-6c5f-4edb-98af-903f95972f97 +type: NodeRename +old_value: Contracture of thumb +new_value: Thumb contracture +about_node: HP:0009600 + +--- +id: uuid:ba891256-0bd4-4723-b08a-59b2146028bc +type: NodeTextDefinitionChange +old_value: A common, benign skin condition involving hypertrophy of the sebaceous + glands characterized by single or multiple lesions that manifest as yellow, soft, + small papules with umbilication. The lesions are located commonly on the central + face (specifically, the nose, cheeks and forehead) but may also occur elswehere, + including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. +new_value: A common, benign skin condition involving hypertrophy of the sebaceous + glands characterized by single or multiple lesions that manifest as yellow, soft, + small papules with umbilication. The lesions are located commonly on the central + face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, + including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. +about_node: HP:0032227 + +--- +id: uuid:bebd66d5-784b-4c23-8790-dfcba70b27ce +type: NodeTextDefinitionChange +old_value: A lack of awareness or failure to apply social rules in multiple social + settings which are simple or intuitive to others in the same social setting. +new_value: A lack of awareness of social rules in multiple social settings, which + are simple or intuitive to others in the same social setting. +about_node: HP:5200021 + +--- +id: uuid:a470c2d2-b1f9-4296-b2a0-fd706d17b1db +type: NodeTextDefinitionChange +old_value: Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awarness, occurring at one + side of the body. +new_value: Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awareness, occurring at one + side of the body. +about_node: HP:0032834 + +--- +id: uuid:385640fc-694a-409d-9718-28ba867201c1 +type: NodeTextDefinitionChange +old_value: Infection with live, attenuated varicella-zoster virus following vaccination. + This is an extreemely rare event that may indicate immunocompromise. +new_value: Infection with live, attenuated varicella-zoster virus following vaccination. + This is an extremely rare event that may indicate immunocompromise. +about_node: HP:4000166 + +--- +id: uuid:de4ebb4e-17ee-4ac1-9375-9825580625a1 +type: NodeRename +old_value: Somatic mosaicism +new_value: Typified by somatic mosaicism +about_node: HP:0001442 + +--- +id: uuid:1aabce64-07ea-42c7-904c-97a594930749 +type: NodeTextDefinitionChange +old_value: The presence of genetically distinct populations of somatic cells in a + given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal + abnormalities or the spontaneous reversion of inherited mutations. +new_value: Description of conditions in which affected individuals typically display + somatic mosaicism, i.e., genetically distinct populations of somatic cells in a + given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal + abnormalities or the spontaneous reversion of inherited mutations. In many conditions + typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively + or predominantly mosaic. +about_node: HP:0001442 + +--- +id: uuid:44e822ad-0e0b-4cc9-ba76-a84c3d5337cd +type: NodeRename +old_value: Dissociative reaction +new_value: Dissociation +about_node: HP:0032940 + +--- +id: uuid:6becb5e8-bc1a-4ac3-a0f3-0f328fc73211 +type: NodeTextDefinitionChange +old_value: A disruption and/or discontinuity in the normal integration of consciousness, + memory, identity, emotion, perception, body representation, motor control, and behavior. + Clinical presentations of dissociation may include a wide variety of symptoms, including + experiences of depersonalization, derealisation, emotional numbing, flashbacks of + traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, + and identity alteration. +new_value: Disruption or detachment of certain aspects of one's normal psychological + functioning typically involves a disconnection or separation from thoughts, feelings, + sensations, memories, or one's sense of identity or reality. +about_node: HP:0032940 + +--- +id: uuid:d6943356-9d91-4626-9189-4a064153b732 +type: NodeTextDefinitionChange +old_value: Neonatal electro-clinical motor seizure with automatism is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awarness, and in association + with other features. +new_value: Neonatal electro-clinical motor seizure with automatism is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awareness, and in association + with other features. +about_node: HP:0032829 + +--- +id: uuid:fa2a6496-332e-49e3-b3d9-381ce377df90 +type: NodeTextDefinitionChange +old_value: An abnormal fear of being in a closed or narrow space with no escape. +new_value: An abnormal fear of being in a closed or narrow space with no escape is + called claustrophobia. +about_node: HP:0025253 + +--- +id: uuid:7280823b-9950-45ba-80db-f5860bcf8c8d +type: NodeRename +old_value: Reduced circulating vitamin B6 level +new_value: Reduced circulating vitamin B6 circulating +about_node: HP:0008326 + +--- +id: uuid:63dd4c72-8040-4f4d-a035-516171a50dae +type: NodeTextDefinitionChange +old_value: The false perception of tactile sensory input that creates a hallucinatory + sensation of physical contact with an imaginary object. +new_value: Perception of touch without a tactile stimulus. +about_node: HP:0033694 + +--- +id: uuid:3ba4a68a-7971-4559-a582-290999c94db3 +type: NodeRename +old_value: Multifactorial inheritance +new_value: Non-Mendelian inheritance +about_node: HP:0001426 + +--- +id: uuid:d58615c5-969e-4f3b-9351-7dbcf659219f +type: NodeTextDefinitionChange +old_value: A mode of inheritance that depends on a mixture of major and minor genetic + determinants possibly together with environmental factors. Diseases inherited in + this manner are termed complex diseases. +new_value: A mode of inheritance that depends on genetic determinants in more than + one gene. +about_node: HP:0001426 + +--- +id: uuid:158d71b0-5e75-4747-9dcd-7e712d23457d +type: NodeTextDefinitionChange +old_value: An increase in the level of 2-hydroxyglutaric acid in the urine. +new_value: The concentration of 2-hydroxyglutaric acid in the urine, normalized for + urine concentration, is above the upper limit of normal. +about_node: HP:0032278 + +--- +id: uuid:9e3b0277-1a17-4b93-a323-4c87c52020bc +type: NodeTextDefinitionChange +old_value: Subnormal intellectual functioning which originates during the developmental + period. Intellectual disability, previously referred to as mental retardation, has + been defined as an IQ score below 70. +new_value: Intellectual disability, previously referred to as mental retardation, + is characterized by subnormal intellectual functioning that occurs during the developmental + period. It is defined by an IQ score below 70. +about_node: HP:0001249 + +--- +id: uuid:780a0b04-4bc5-42f0-9c27-22676dbffb2f +type: NodeRename +old_value: Offers information +new_value: Failure to offer information to initiate social interaction +about_node: HP:5200113 + +--- +id: uuid:a8a55242-1ecb-497d-b1c2-a6783df4836d +type: NewTextDefinition +new_value: The absence of the tendency to offer information as a means to initiate + social interactions or direct another's attention. +about_node: HP:5200113 + +--- +id: uuid:73684796-c63c-40a4-b7ba-4cf4d9431b1f +type: NodeRename +old_value: Distal joint laxity +new_value: Distal joint hypermobility +about_node: HP:0020152 + +--- +id: uuid:fa1a90be-203f-46c2-8d19-c0c12938a71e +type: NodeTextDefinitionChange +old_value: Renal ltubular nuclear inclusions have a ground-glass appearance with irregular + central clearing, or a coarse, vesicular appearance. Distal tubules are involved + more often than proximal tubules. There may be only medullary involvement in early + stages, and parietal epithelial cells may be involved in later stages of the infection. + Infected epithelial cell nuclei stain with antibody to the large T antigen of the + SV40 virus, which serves as a surrogate marker of human polyomavirus infection. +new_value: Renal tubular nuclear inclusions have a ground-glass appearance with irregular + central clearing, or a coarse, vesicular appearance. Distal tubules are involved + more often than proximal tubules. There may be only medullary involvement in early + stages, and parietal epithelial cells may be involved in later stages of the infection. + Infected epithelial cell nuclei stain with antibody to the large T antigen of the + SV40 virus, which serves as a surrogate marker of human polyomavirus infection. +about_node: HP:0032955 + +--- +id: uuid:f2a4f357-3d4a-4d68-b250-09b14d466a02 +type: NodeTextDefinitionChange +old_value: Persistence of virus in the blood circulation longer than would be normal + in an immunocompentent host. +new_value: Persistence of virus in the blood circulation longer than would be normal + in an immunocompetent host. +about_node: HP:0032248 + +--- +id: uuid:e63d5495-09db-4e57-ab58-50bc49763c85 +type: NewTextDefinition +new_value: A solitary, bluish, smooth surfaced macule, papule or plaque that is generally + round or oval in shape. The histopathology of blue nevi varies by subtype, but general + characteristics include a vertical wedge or bulbous shaped proliferation of spindle + cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. +about_node: HP:0100814 + +--- +id: uuid:3dce3d5f-9274-476c-b862-d94ee74203ba +type: EdgeDeletion +subject: HP:0100814 +predicate: oio:hasDbXref +object: SNOMEDCT_US:40467008 + +--- +id: uuid:d289af8f-5fce-4109-ba44-1cb3f3cf0861 +type: EdgeDeletion +subject: HP:0100814 +predicate: oio:hasDbXref +object: MSH:D049328 + +--- +id: uuid:a4fe46f8-fdde-448c-8caf-05cd93fa90c3 +type: EdgeDeletion +subject: HP:0100814 +predicate: oio:hasDbXref +object: UMLS:C0265985 + +--- +id: uuid:b087325f-f1ec-46f5-b1ec-ed58eef7d1ce +type: EdgeDeletion +subject: HP:0100814 +predicate: oio:hasDbXref +object: UMLS:C4020699 + +--- +id: uuid:1eb5fa98-731a-4460-976d-b09572cec559 +type: NodeTextDefinitionChange +old_value: A type of gallop rhytm in which both the third and the fourth sounds are + present. +new_value: A type of gallop rhythm in which both the third and the fourth sounds are + present. +about_node: HP:0033114 + +--- +id: uuid:abf174d4-868b-4543-9840-e4e4aca47e93 +type: NodeTextDefinitionChange +old_value: A feeling of uneasiness and restlessness in the legs after going to bed + (sometimes causing insomnia). +new_value: Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable + and restless sensation in the legs that occurs after going to bed, often leading + to insomnia. +about_node: HP:0012452 + +--- +id: uuid:e6ac8a82-e213-4071-adfc-587faa4ff362 +type: NodeRename +old_value: Benzodiazepine addiction +new_value: Addictive benzodiazepine use +about_node: HP:0033516 + +--- +id: uuid:364472a1-b0ec-4b06-a8a1-c5c731c96196 +type: NodeTextDefinitionChange +old_value: Complete absence of wakefulness and content of conscience, which manifests + itself as a lack of response to any kind of external stimuli. +new_value: The complete absence of wakefulness and consciousness, which is evident + through a lack of response to any form of external stimuli. +about_node: HP:0001259 + +--- +id: uuid:2ec1e6a4-10fd-433a-8801-beaddd4abba1 +type: NodeTextDefinitionChange +old_value: Intense feelings of nervousness, tenseness, or panic, often in reaction + to interpersonal stresses; worry about the negative effects of past unpleasant experiences + and future negative possibilities; feeling fearful, apprehensive, or threatened + by uncertainty; fears of falling apart or losing control. +new_value: Intense feelings of nervousness, tension, or panic often arise in response + to interpersonal stresses. There is worry about the negative effects of past unpleasant + experiences and future negative possibilities. Individuals may feel fearful, apprehensive, + or threatened by uncertainty, and they may also have fears of falling apart or losing + control. +about_node: HP:0000739 + +--- +id: uuid:108d411e-643e-43c7-8458-a69f08ea2b48 +type: NodeRename +old_value: Abnormality of the odontoid process +new_value: Abnormal odontoid process morphology +about_node: HP:0003310 + +--- +id: uuid:b44aa70c-4a4a-4477-98c4-85aa40657d5a +type: NodeTextDefinitionChange +old_value: Abnormality of the dens of the axis, which is also known as the odontoid + process. +new_value: Abnormal structure of the odontoid process, which is a part of the C2 or + axis vertebra and forms pivot of the structures forming the craniovertebral junction. + The odontoid process is also known as the dens of the axis. +about_node: HP:0003310 + +--- +id: uuid:5f8e2944-7158-4911-aee8-36b9f0e4197e +type: NodeRename +old_value: Morphological abnormality of the utricle +new_value: Abnormal utricle morphology +about_node: HP:0040109 + +--- +id: uuid:6673b970-fed7-4b86-9a30-395c15bdd076 +type: NodeTextDefinitionChange +old_value: Absence of any measurable level of sperm in his semen. +new_value: Absence of any measurable level of sperm,whereby spermatozoa cannot be + observed even after centrifugation of the semen pellet. +about_node: HP:0000027 + +--- +id: uuid:5fc88a9c-dfc5-40ff-b9ce-858b1dc0c2f9 +type: NodeTextDefinitionChange +old_value: The absence of one or more teeth from the normal series by a failure\nto + develop +new_value: The absence of one or more teeth from the normal series by a failure to + develop +about_node: HP:0009804 + +--- +id: uuid:699bbb7e-0370-4cc9-b64d-c6fb17f6b062 +type: NodeRename +old_value: Reduced consciousness/confusion +new_value: Reduced consciousness +about_node: HP:0004372 + +--- +id: uuid:1dfbc245-9b37-4880-9d97-713bdbfd373f +type: NewTextDefinition +new_value: Abnormally diminished level of attention, responsiveness, or wakefulness. +about_node: HP:0004372 + +--- +id: uuid:d5fefeb7-88ea-482c-8043-a84f1c8b5159 +type: NewTextDefinition +new_value: A pattern of thinking and perceiving characterized by a loss of contact + with reality, leading to significant changes in thoughts, perceptions, and behaviors. +about_node: HP:0001345 + +--- +id: uuid:9e59c2cc-38ba-4533-bd35-157c3f07fdcd +type: NodeTextDefinitionChange +old_value: A lack of restraint manifested in several ways, including disregard for + social conventions, impulsivity, and poor risk assessment. +new_value: Reduced ability to control, or a failure to resist a temptation, urge, + or impulse. Examples include disregard for social conventions, general impulsivity, + and poor risk assessment. +about_node: HP:0000734 + +--- +id: uuid:d4e48fca-b397-4593-a521-5e81be04bebe +type: NodeRename +old_value: Hyoplasia of the Leydig cells +new_value: Hypoplasia of the Leydig cells +about_node: HP:0010790 + +--- +id: uuid:b294e93a-6999-4299-83d4-63af1985ca0d +type: NodeRename +old_value: Stimulant addiction +new_value: Addictive stimulant use +about_node: HP:0033512 + +--- +id: uuid:e36a2a6e-1b94-4f94-a154-748b4d802756 +type: NodeTextDefinitionChange +old_value: Addiction to a stimulant drug, defined as a drug that typically increases + alertness, attention and energy while also elevating blood pressure, heart rate + and breathing. +new_value: Addiction to a stimulant drug is defined as a drug that typically increases + alertness, attention, and energy while also elevating blood pressure, heart rate, + and breathing. +about_node: HP:0033512 + +--- +id: uuid:2f9def27-073e-42ef-99b0-43b960159750 +type: NodeTextDefinitionChange +old_value: An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. +new_value: The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized + for urine concentration, is above the upper limit of normal. +about_node: HP:0410051 + +--- +id: uuid:3a887181-e745-48b2-80d5-879421b5d020 +type: NodeTextDefinitionChange +old_value: Recurrent attacks of severe anxiety, whose occurence is not restricted + to any particular situation or set of circumstances and is therefore unpredictable. +new_value: Recurrent attacks of severe anxiety, which occur without restriction to + any particular situation or set of circumstances, are therefore unpredictable. +about_node: HP:0000740 + +--- +id: uuid:6130fd18-b807-495e-ba02-e5d8ac3d487a +type: NodeTextDefinitionChange +old_value: 'Significantly decreased level or failed detection of surfactant protein + C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active + mixture of proteins and lipids that is synthesized and secreted onto the alveoli + by type II epithelial cells. The protein part of surfactant constitutes of four + types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are + hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, + whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the + organization of the surfactant structure in the interphase and in the stabilization + of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant + metabolism dysfunction and is also observed in patients with other diffuse parenchymal + lung diseaes, pathogenetically related to the alveolar surfactant region.' +new_value: 'Significantly decreased level or failed detection of surfactant protein + C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active + mixture of proteins and lipids that is synthesized and secreted onto the alveoli + by type II epithelial cells. The protein part of surfactant constitutes of four + types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are + hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, + whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the + organization of the surfactant structure in the interphase and in the stabilization + of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant + metabolism dysfunction and is also observed in patients with other diffuse parenchymal + lung diseases, pathogenetically related to the alveolar surfactant region.' +about_node: HP:0032980 + +--- +id: uuid:6c3e378b-39b6-4917-8b91-8df6a4495439 +type: NodeTextDefinitionChange +old_value: Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid + in the blood circulation. +new_value: The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation + is above the upper limit of normal. +about_node: HP:0033437 + +--- +id: uuid:5ce96779-ed9d-4a0e-bed5-85ff3713d5a8 +type: NodeTextDefinitionChange +old_value: Intense or prolonged psychological distress at exposure to internal or + external cues that symbolize or resemble an aspect of the traumatic event or events. +new_value: Intense or prolonged psychological distress occurs when individuals are + exposed to internal or external cues that symbolize or resemble an aspect of the + traumatic event or events. +about_node: HP:0032941 + +--- +id: uuid:d8fe5dad-a827-4a7a-8eb3-c6079919f30e +type: NodeTextDefinitionChange +old_value: Decreased level of guanosine in urine. Guanosine is a purine nucleoside + in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. +new_value: The amount of guanosine in the urine, normalized for urine concentration, + is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine + is attached to ribofuranose via a beta-N(9)-glycosidic bond. +about_node: HP:0033160 + +--- +id: uuid:7d3f5f9f-b783-4ad3-8183-efb3f634d8db +type: NodeTextDefinitionChange +old_value: Aggressive behavior can denote verbal aggression, physical aggression against + objects, physical aggression against people, and may also include aggression towards + oneself. +new_value: Behavior or an act aimed at harming a person, animal, or physical property + (e.g., acts of physical violence; shouting, swearing, and using harsh language; + slashing someone's tires). +about_node: HP:0000718 + +--- +id: uuid:8b49e9af-8efb-485b-ba69-c4cad4a36bee +type: NodeRename +old_value: Morphological abnormality of the corticospinal tract +new_value: Abnormal corticospinal tract morphology +about_node: HP:0002492 + +--- +id: uuid:5ab5735b-9a2a-4e69-aaa8-3094e5b5629b +type: NodeTextDefinitionChange +old_value: Episodes of intense fear, screaming and flailing although affected individuals + are still asleep. +new_value: Episodes of intense fear, screaming, and flailing occur even though the + affected individuals are still asleep. +about_node: HP:0030765 + +--- +id: uuid:f0587881-5bff-4c21-be25-1280bd0b0f9f +type: NodeRename +old_value: Pseudobulbar behavioral symptoms +new_value: Pseudobulbar affect +about_node: HP:0002193 + +--- +id: uuid:ee3a4667-39b5-4c9e-b1f9-a2afb5464ce3 +type: NodeTextDefinitionChange +old_value: Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral + symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping + etc. +new_value: Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing + which may be disproportionate or inappropriate to the social context. Thus, there + is a disparity between the patient's emotional expression and his or her emotional + experience. +about_node: HP:0002193 + +--- +id: uuid:498661d4-bebf-4468-980d-e14fe8823999 +type: NodeTextDefinitionChange +old_value: Delayed ahcievement of the ability to roll front to back and back to front. +new_value: Delayed achievement of the ability to roll front to back and back to front. +about_node: HP:0032989 + +--- +id: uuid:94730224-7814-47eb-aaba-c93c588cdeb0 +type: NodeRename +old_value: Elevated urinary epinephrine +new_value: Elevated urinary epinephrine level +about_node: HP:0003639 + +--- +id: uuid:2601219f-f1b4-4276-ae81-6b0fbf94b322 +type: NodeTextDefinitionChange +old_value: An increased concentration of adrenaline in the urine. +new_value: The concentration of epinephrine in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0003639 + +--- +id: uuid:620cf170-54e2-4291-9bc7-ef44e506322b +type: NodeTextDefinitionChange +old_value: Return of lavage fluid characteristically has a bloody apperance in pulmonary + alveolar hemorrhage. This is due to admixture of blood, which typically increases + with each consecutive lavage portion. Microscopically erythrocytes can be seen. + After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous + bleeding. +new_value: Return of lavage fluid characteristically has a bloody appearance in pulmonary + alveolar hemorrhage. This is due to admixture of blood, which typically increases + with each consecutive lavage portion. Microscopically erythrocytes can be seen. + After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous + bleeding. +about_node: HP:0033174 + +--- +id: uuid:c16ff242-cc98-48b2-9465-b9dcdecd31aa +type: NodeTextDefinitionChange +old_value: Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. +new_value: Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically. +about_node: HP:0032832 + +--- +id: uuid:f023b797-db65-4197-bb10-eec857ce07e4 +type: NodeRename +old_value: Psychogenic non-epileptic seizure +new_value: Non-epileptic seizure +about_node: HP:0033052 + +--- +id: uuid:dcc3bbb6-f59c-4a78-bc5a-cdfea0fac74b +type: NodeTextDefinitionChange +old_value: Psychogenic non-epileptic seizures (PNES) are an important cause of apparently + treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. + The two main PNES groups are panic disorder (also occurring as a reaction in people + with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients + with no history of epilepsy. The main markers distinguishing PNES from epileptic + seizures are (i) the way the patient tells the story (not focusing on the seizure + symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many + minutes); (iii) associated with hyperventilation and eyes closed; and that they + present as treatment-resistant epilepsy despite an often normal intellect and brain + imaging. +new_value: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions + or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors + that simulate epileptic attacks, not fully consciously. +about_node: HP:0033052 + +--- +id: uuid:de76cb5d-03c1-48bc-be01-9c62b0cb2092 +type: NodeRename +old_value: Hypnagogic hallucinations +new_value: Hypnagogic hallucination +about_node: HP:0002519 + +--- +id: uuid:3d8851c2-ae74-4ae1-8d56-61cb68ccbe45 +type: NodeTextDefinitionChange +old_value: Fleeting perceptual experiences that occur during the transition from wakefulness + to sleep. +new_value: Hypnagogic hallucinations are brief hallucinations that occur as you are + falling asleep. +about_node: HP:0002519 + +--- +id: uuid:d2d71fe5-cd83-4ac9-9d21-821be1636126 +type: NodeTextDefinitionChange +old_value: Hyaline membranes are homogeneous eosinophilic material composed of cellular + debris, plasma proteins, and surfactant\nplastered against alveolar ducts and alveolar + walls. The hyaline membranes are deposited along the walls of the alveoli, where + gas exchange typically occurs, thereby making gas exchange difficult. +new_value: Hyaline membranes are homogeneous eosinophilic material composed of cellular + debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar + walls. The hyaline membranes are deposited along the walls of the alveoli, where + gas exchange typically occurs, thereby making gas exchange difficult. +about_node: HP:0033363 + +--- +id: uuid:6e8dee71-ffcb-4e56-be2f-860e3363011a +type: NodeRename +old_value: Drug addiction +new_value: Addictive substance use +about_node: HP:0033511 + +--- +id: uuid:956001e1-dc28-4d99-afaa-0466ddf726a1 +type: NodeTextDefinitionChange +old_value: 'A type of status epilepticus characterized by a prolonged bilateral tonic-clonic + seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: + \nsource: \nseeAlso: Tonic-clonic status epilepticus' +new_value: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic + seizure, or repeated bilateral tonic-clonic seizures without recovery between. +about_node: HP:0032660 + +--- +id: uuid:2b827433-5679-4c49-9fbe-3ebfd8791b0e +type: NodeRename +old_value: Abnormal alpha-L-fucosidase activity +new_value: Abnormal circulating alpha-L-fucosidase activity +about_node: HP:0034728 + +--- +id: uuid:acd54015-9ade-4eec-91da-b43062895e8d +type: NodeTextDefinitionChange +old_value: Activity of the enzyme alpha-L-fucosidase outside the limits of normal. +new_value: Activity of the enzyme alpha-L-fucosidase in the blood circulation outside + the limits of normal. +about_node: HP:0034728 + +--- +id: uuid:63dd33e7-d70b-49f8-bef7-763de52a145b +type: NodeTextDefinitionChange +old_value: Abnormalities in eye contact, communicative facial expressions, gesture + use, or use of other's body to communicate. These convey a shared meaning within + a culture that replace or supplement verbal communication. +new_value: Abnormalities in eye contact, communicative facial expressions, gesture + use, or the use of others' bodies to communicate convey shared meanings within a + culture that replace or supplement verbal communication. +about_node: HP:0000758 + +--- +id: uuid:ee5c840f-c7c5-4b16-8650-a2baaf9d8952 +type: NodeTextDefinitionChange +old_value: Generalized deposition of calcium salts within the brain. +new_value: Generalized deposition of calcium salts within the cerebrum. +about_node: HP:0005849 + +--- +id: uuid:6e11c31a-0d22-4ea6-8313-c12a252609da +type: NodeTextDefinitionChange +old_value: Difficulty initiating sleep, that is, increased sleep onset latency. +new_value: Difficulty initiating sleep, that is, increased sleep onset latency, refers + to the condition where it takes 30 minutes or more to fall asleep. +about_node: HP:0031354 + +--- +id: uuid:31aba7e7-be58-4506-81e4-0fc152889454 +type: NodeTextDefinitionChange +old_value: Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is + said to resemble a strawberry or raspberry. +new_value: Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is + said to resemble a strawberry or raspberry. +about_node: HP:0031042 + +--- +id: uuid:aa489028-df33-44ba-81e6-d69e57346534 +type: NodeRename +old_value: Elevated calcitonin +new_value: Elevated circulating calcitonin concentration +about_node: HP:0003528 + +--- +id: uuid:33d8efed-9197-4c9f-800c-4493cf8f5414 +type: NewTextDefinition +new_value: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is + produced primarily by the parafollicular cells of the thyroid, in the blood circulation + above the upper limit of normal. +about_node: HP:0003528 + +--- +id: uuid:14a7b28e-d4a4-495b-91a4-c8febc6915f3 +type: NodeTextDefinitionChange +old_value: Pachygyria with cortical thickness above 10 mm with and a posterior predominant + severety gradient. The severety gradient is determined based on the gyral width, + with gyri typically wider than 5mm over the more severely affected regions. Posterior + predominant gradient indicates pachygyria more severe other the occipital lobes + but also includes a rare perisylvian-predominant pachygyria and a temporal predominant + pachygyria. +new_value: Pachygyria with cortical thickness above 10 mm with and a posterior predominant + severity gradient. The severity gradient is determined based on the gyral width, + with gyri typically wider than 5mm over the more severely affected regions. Posterior + predominant gradient indicates pachygyria more severe other the occipital lobes + but also includes a rare perisylvian-predominant pachygyria and a temporal predominant + pachygyria. +about_node: HP:0020189 + +--- +id: uuid:8bc7bc42-d09a-49d4-be8c-3659d5f05834 +type: NodeTextDefinitionChange +old_value: CT finding of central ground-glass opacity surrounded by denser consolidation + of crescentic shape (forming more than three-fourths of a circle) or complete ring + of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific + for cryptogenic organizing pneumonia, but was subsequently described in patients + with paracoccidioidomycosis. +new_value: CT finding of central ground-glass opacity surrounded by denser consolidation + of crescentic shape (forming more than three-fourths of a circle) or complete ring + of at least 2 mm in thickness. A rare sign, it was initially reported to be specific + for cryptogenic organizing pneumonia, but was subsequently described in patients + with paracoccidioidomycosis. +about_node: HP:0032983 + +--- +id: uuid:a06d3e5f-8ad9-4276-97ef-87a320ef1b28 +type: NodeTextDefinitionChange +old_value: Hyperactivity is a state of constantly being unusually or abnormally active, + including in situations in which it is not appropriate. +new_value: Hyperactivity is a condition characterized by constant and unusually high + levels of activity, even in situations where it is deemed inappropriate. +about_node: HP:0000752 + +--- +id: uuid:319aea99-810a-4731-9132-1ffaa6f9787d +type: NodeTextDefinitionChange +old_value: An increased concentration of glutaric acid in the urine. +new_value: The concentration of glutaric acid in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0003150 + +--- +id: uuid:bc371b2f-2c32-4063-b3b2-964b4414fa63 +type: NodeRename +old_value: Maternal narcotic exposure +new_value: Fetal narcotic exposure +about_node: HP:0034758 + +--- +id: uuid:54e42732-16f5-435d-b1f5-b958a644d999 +type: NodeTextDefinitionChange +old_value: When an activity, substance, object, or behavior becomes a major focus + of a person's life excluding other activities, or has begun to harm the individual + or others physically, mentally, or socially can be considered addictive behavior. + A person can become addicted or compulsively engaged with anything. +new_value: When an activity, substance, object, or behavior becomes a major focus + of a person's life, excluding other activities, or has begun to harm the individual + or others physically, mentally, or socially, it can be considered addictive behavior. + A person can become addicted or compulsively engaged with anything. +about_node: HP:0030858 + +--- +id: uuid:694cccba-e248-4297-9322-a504a6ab7e05 +type: NodeTextDefinitionChange +old_value: On chest radiographs, ground-glass opacity appears as an area of hazy increased + lung opacity, usually extensive, within which\nmargins of pulmonary vessels may + be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation + of bronchial and vascular margins. It is caused by partial filling of airspaces, + interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse + of alveoli, increased capillary blood volume, or a combination of these, the common + factor being the partial displacement of air. Ground-glass opacity is less opaque + than consolidation, in which bronchovascular margins are obscured. +new_value: On chest radiographs, ground-glass opacity appears as an area of hazy increased + lung opacity, usually extensive, within which margins of pulmonary vessels may be + indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation + of bronchial and vascular margins. It is caused by partial filling of airspaces, + interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse + of alveoli, increased capillary blood volume, or a combination of these, the common + factor being the partial displacement of air. Ground-glass opacity is less opaque + than consolidation, in which bronchovascular margins are obscured. +about_node: HP:0025179 + +--- +id: uuid:3af809ee-3d14-4e48-91be-57f1f1892227 +type: NodeRename +old_value: Abnormality of fibula morphology +new_value: Abnormal fibula morphology +about_node: HP:0002991 + +--- +id: uuid:00dbbd1b-f315-4c15-b404-56ad7a34545a +type: NodeRename +old_value: Abnormal lactate dehydrogenase level +new_value: Abnormal circulating lactate dehydrogenase concentration +about_node: HP:0045040 + +--- +id: uuid:9c4b161e-0d40-4176-ac0a-a112520a0d2f +type: NodeRename +old_value: Abnormality of lower limb epiphysis morphology +new_value: Abnormal lower limb epiphysis morphology +about_node: HP:0006500 + +--- +id: uuid:690a5730-fbf0-474d-b618-9a2a261dc3ba +type: NodeTextDefinitionChange +old_value: A reduction in the ability to maintain sustained attention characterized + by reduced alertness. +new_value: A decrease in the ability to maintain sustained attention is characterized + by reduced alertness. +about_node: HP:0032044 + +--- +id: uuid:08628ec2-098f-4056-b4a2-1cc99506cdc2 +type: NodeTextDefinitionChange +old_value: Spontaneous detachment (amputation) of an appendage from the body. +new_value: Auto-amputation is the spontaneous detachment of an appendage from the + body due to long standing pathology. +about_node: HP:0001218 + +--- +id: uuid:96a2f638-88c4-46ef-8a14-eb2c00737ed8 +type: NodeTextDefinitionChange +old_value: Cleft soft palate in which the cleft doe not goes through the entire length + of the soft palate. +new_value: Cleft soft palate in which the cleft does not go through the entire length + of the soft palate, i.e. the cleft does not go from the posterior border of the + hard palate until the uvula. +about_node: HP:5201006 + +--- +id: uuid:5c361bdb-2c10-4591-a328-59a6653c6411 +type: NodeTextDefinitionChange +old_value: A proneness to anger, i.e., a condition of being easily bothered or annoyed. +new_value: A proneness to anger, i.e., a tendency to become easily bothered or annoyed. +about_node: HP:0000737 + +--- +id: uuid:53308470-49b9-4b46-acfc-20c1f5ba1c51 +type: NodeTextDefinitionChange +old_value: The presence of autoantibodies (immunoglobulins) in the blood circulation + that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid + with one sialic acid. GM1 is located on the outer layer of the plasma membrane, + and plays a vital role in neurogenesis, nerve development, differentiation and repair + after injury. +new_value: The presence of autoantibodies (immunoglobulins) in the blood circulation + that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid + with one sialic acid. GM1 is located on the outer layer of the plasma membrane, + and plays a vital role in neurogenesis, nerve development, differentiation and repair + after injury. +about_node: HP:0030208 + +--- +id: uuid:94292c1a-f89d-4532-9460-547345ef5d0a +type: NodeRename +old_value: Abnormality of thalamus morphology +new_value: Abnormal thalamus morphology +about_node: HP:0010663 + +--- +id: uuid:be80d319-ec56-4558-9e86-f913eef19c22 +type: NodeTextDefinitionChange +old_value: Absence of wakefulness and conscience, but (in contrast to coma) with involuntary + opening of the eyes and movements (such as teeth grinding, yawning, or thrashing + of the extremities). +new_value: The absence of wakefulness and consciousness, but in contrast to a coma, + there is involuntary opening of the eyes and movements such as teeth grinding, yawning, + or thrashing of the extremities. +about_node: HP:0031358 + +--- +id: uuid:09a5f92f-dd44-4c59-bcaa-7101dea0802f +type: NodeRename +old_value: Abnormal portal artery morphology +new_value: Abnormal hepatic artery morphology +about_node: HP:4000147 + +--- +id: uuid:7c9147a3-da9a-43ed-9c97-60de8666ce65 +type: NodeTextDefinitionChange +old_value: Any structural anomaly of the portal artery. +new_value: Any structural anomaly of the hepatic artery or its branches. +about_node: HP:4000147 + +--- +id: uuid:00d64c2a-3c5b-4516-86e4-c044b15fbdaa +type: NodeRename +old_value: Low levels of vitamin C +new_value: Decreased circulating vitamin C concentration +about_node: HP:0100510 + +--- +id: uuid:32b0cb3b-d0c4-4633-bb00-e402d58a280d +type: NodeTextDefinitionChange +old_value: A reduced concentration of Vitamin C. +new_value: The concentration of vitamin C in the blood circulation is below the lower + limit of normal. +about_node: HP:0100510 + +--- +id: uuid:330a1391-f1ff-41d4-8543-cce27a36bec2 +type: NodeRename +old_value: Delayed social development +new_value: Delayed early-childhood social milestone development +about_node: HP:0012434 + +--- +id: uuid:6d180f03-9a6c-4c6a-a269-0bcabc149126 +type: NodeRename +old_value: Morphological abnormality of the vestibule of the inner ear +new_value: Abnormal morphology of the vestibule of the inner ear +about_node: HP:0011376 + +--- +id: uuid:c0803ddc-1856-423e-a1b7-056d1ee40048 +type: NodeTextDefinitionChange +old_value: Any abnormal alteration of an individual's circadian rhythm that affects + the timing of sleeping and being awake. +new_value: Any abnormality of an individual's circadian rhythm that affects the timing + of sleeping and being awake is referred to as a sleep-wake disorder. +about_node: HP:0006979 + +--- +id: uuid:75ebe06f-105e-4941-b40a-f912a6744750 +type: NodeTextDefinitionChange +old_value: A vascular malformation located in the lip that is characterized by\nectatic + papillary dermal capillaries and postcapillary venules in the upper reticular dermis. +new_value: A vascular malformation located in the lip that is characterized by ectatic + papillary dermal capillaries and postcapillary venules in the upper reticular dermis. +about_node: HP:0031487 + +--- +id: uuid:acc73b02-d97c-4adf-9b03-848014a89eb3 +type: NodeRename +old_value: Increased level of carnosine in blood +new_value: Increased circulating carnosine concentration +about_node: HP:0500161 + +--- +id: uuid:4fe8288c-3e01-4fa0-a29c-7e2835079626 +type: NodeTextDefinitionChange +old_value: An increased amount of carnosine in the blood. +new_value: Concentration of carnosine in the blood circulation above normal limits. +about_node: HP:0500161 + +--- +id: uuid:5a2b8702-7e43-4ff7-99b8-410d68e90da1 +type: NodeTextDefinitionChange +old_value: An inability or difficulty differentiating among the fingers of either + hand as well as the hands of others. +new_value: The examiner identified the inability to name, move, or touch specific + fingers. +about_node: HP:0010525 + +--- +id: uuid:e1a1e564-5d4e-4583-9b20-811561d3bb53 +type: NodeTextDefinitionChange +old_value: A type of multifactorial inheritance governed by the simultaneous action + of many (more than three) gene loci. +new_value: A mode of inheritance that depends on a mixture of major and minor genetic + determinants possibly together with environmental factors. Diseases inherited in + this manner are termed complex diseases. +about_node: HP:0010982 + +--- +id: uuid:2f4291d9-8ce1-4bd1-b3d0-0606f04dc529 +type: NodeTextDefinitionChange +old_value: Lack of interest of an individual in peers of comparable age and social + groups. For example, a child who is only interested in social interactions with + adults rather than children their age. +new_value: Lack of interest in peers of comparable age and social groups is evident + when an individual, such as a child, shows more interest in socializing with adults + rather than children their own age. +about_node: HP:4000083 + +--- +id: uuid:710d1c62-9167-4ab6-8e00-08c2734e4465 +type: NodeRename +old_value: Low levels of vitamin B5 +new_value: Decreased circulating vitamin B5 concentration +about_node: HP:0100505 + +--- +id: uuid:abcb6664-35ad-43a0-8d1b-e98ffde3b3d1 +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin B5. +new_value: The concentration of vitamin B5 in the blood circulation is below the lower + limit of normal. +about_node: HP:0100505 + +--- +id: uuid:ce08fa1b-e90f-41b3-8be1-a9985d505749 +type: NodeRename +old_value: Decreased circulating ACTH level +new_value: Decreased circulating ACTH concentration +about_node: HP:0002920 + +--- +id: uuid:6153df23-0cda-4bdc-8935-9ec9e9193cb6 +type: NodeTextDefinitionChange +old_value: An abnormal reduction in the concentration of corticotropin, also known + as adrenocorticotropic hormone (ACTH), in the blood. +new_value: The concentration of corticotropin, also known as adrenocorticotropic hormone + (ACTH), is below the lower limit of normal in the blood circulation. +about_node: HP:0002920 + +--- +id: uuid:21ac5cba-5bae-426f-b7b9-2a2eb6cd7a77 +type: NodeRename +old_value: Early spermatogenesis maturation arrest +new_value: Spermatocyte maturation arrest +about_node: HP:0031039 + +--- +id: uuid:5193ee26-6ddd-4075-8d8f-2713e4839e0e +type: NodeTextDefinitionChange +old_value: A type of maturation arrest in which only spermatogonia or spermatocytes + are found. +new_value: A type of spermatogenesis maturation arrest in which the block of developmental + occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules + with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated + cells like round spermatids. +about_node: HP:0031039 + +--- +id: uuid:d911bf7a-709e-4f4e-a519-37b09b496966 +type: NodeTextDefinitionChange +old_value: A persecutory delusion of supposed hostility of others. +new_value: An inappropriate feeling of being persecuted or being the subject of hostility + from others. +about_node: HP:0011999 + +--- +id: uuid:a0d1fc92-27db-498e-b77c-c95466d48581 +type: NodeTextDefinitionChange +old_value: A type of anxiety disorder characterized by avoidance of public places, + especially where crowds gather. +new_value: A type of anxiety disorder characterized by the avoidance of public places, + especially where crowds gather. +about_node: HP:0000756 + +--- +id: uuid:867fa845-7ce5-4d7b-a833-93909a36dcf3 +type: NodeTextDefinitionChange +old_value: Ambulation or other complex motor behaviors after getting out of bed in + a sleep-like state. During sleepwalking episodes, the sonambulating individual appears + confused or dazed, the eyes are usually open, and he or she might mumble or give + inappropriate answers to questions, or occasionally appear agitated. +new_value: Ambulation or other complex motor behaviors may occur after getting out + of bed in a sleep-like state. During sleepwalking episodes, the individual who is + somnambulating appears confused or dazed, with their eyes usually open. They may + mumble or give inappropriate answers to questions, and occasionally appear agitated. +about_node: HP:0025236 + +--- +id: uuid:42b874af-0f37-4566-b045-846e70113b42 +type: NodeTextDefinitionChange +old_value: Infection with live attenuated polio vaccine following vaccination. This + is an extreemely rare event that may indicate immunocompromise. +new_value: Infection with live attenuated polio vaccine following vaccination. This + is an extremely rare event that may indicate immunocompromise. +about_node: HP:0020090 + +--- +id: uuid:d36d071c-3add-495e-a99c-5018ff1e8ad5 +type: NodeTextDefinitionChange +old_value: Sleep apnea resulting from a transient abolition of the central drive to + the ventilatory muscles. +new_value: Sleep apnea results from a temporary loss of the central drive to the muscles + responsible for breathing. +about_node: HP:0010536 + +--- +id: uuid:e3ea88a5-00cf-442a-8a6d-6cd9577bdf81 +type: NodeTextDefinitionChange +old_value: Increased concentration of homovanillic acid in the blood circulation. +new_value: The concentration of homovanillic acid in the blood circulation is above + the upper limit of normal. +about_node: HP:0033324 + +--- +id: uuid:4a6318d7-51e4-4cad-8415-29f40167b4b0 +type: NodeRename +old_value: Morphological abnormality of the pyramidal tract +new_value: Abnormal pyramidal tract morphology +about_node: HP:0002062 + +--- +id: uuid:7e75af5b-f545-44b2-974b-480a1ace3250 +type: NodeTextDefinitionChange +old_value: A condition characterized by obstruction of the airway and by pauses in + breathing during sleep occurring many times during the night. Obstructive sleep + apnea is related to a relaxation of muscle tone (which normally occurs during sleep) + leading to partial collapse of the soft tissues in the airway with resultant obstruction + of the air flow. +new_value: Obstructive Sleep Apnea is a condition characterized by the obstruction + of the airway and pauses in breathing during sleep, which occur multiple times throughout + the night. It is related to the relaxation of muscle tone that typically happens + during sleep, leading to a partial collapse of the soft tissues in the airway and + causing airflow obstruction. +about_node: HP:0002870 + +--- +id: uuid:57688760-9514-411a-94d4-68ef1c7f0751 +type: NodeTextDefinitionChange +old_value: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant + severity gradient. The severety gradient is determined based on the gyral width, + with gyri typically wider than 5mm over the more severely affected regions. Anterior + predominant gradient indicates pachygyria more severe over the frontal and temporal + lobes. +new_value: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant + severity gradient. The severity gradient is determined based on the gyral width, + with gyri typically wider than 5mm over the more severely affected regions. Anterior + predominant gradient indicates pachygyria more severe over the frontal and temporal + lobes. +about_node: HP:0020191 + +--- +id: uuid:97c9fbbe-b579-4d2f-a460-cddad98e2bff +type: NodeTextDefinitionChange +old_value: Behavior characterized by an abnormal limitation to few interests and activities. +new_value: Behavior characterized by an abnormal limitation to a few interests and + activities. +about_node: HP:0000723 + +--- +id: uuid:342aaa38-7215-4b1f-9c40-056a8573d12d +type: NodeRename +old_value: Morphological abnormality of the posterior semicircular canal +new_value: Abnormal posterior semicircular canal morphology +about_node: HP:0040107 + +--- +id: uuid:5952d4f8-9e3a-4046-8d30-3a5dc55d7f5c +type: NodeTextDefinitionChange +old_value: Temper tantrums that occur more frequently than usual. +new_value: Temper tantrums that occur more frequently compared to the temper tantrums + that are a part of the normal developmental process. +about_node: HP:0025161 + +--- +id: uuid:1f9698f7-bb8d-4f6d-bd50-3645f8f3b696 +type: NodeRename +old_value: Abnormality of primary molar morphology +new_value: Abnormal primary molar morphology +about_node: HP:0006344 + +--- +id: uuid:2dc658d4-989b-4165-aa59-bc02be2ef289 +type: NodeTextDefinitionChange +old_value: Interstital aggregates of histiciocytes, occasionally multinucleated with + associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization + can range from poorly-to-well defined and multinucleated giant cells may be present. +new_value: Interstital aggregates of histiciocytes, occasionally multinucleated with + associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization + can range from poorly-to-well defined and multinucleated giant cells may be present. +about_node: HP:0032641 + +--- +id: uuid:7670a3f8-d6ac-4a51-965d-c9e846244d34 +type: NodeRename +old_value: Maternal exposure history +new_value: Fetal exposure history +about_node: HP:0034756 + +--- +id: uuid:3d98c275-0ef1-41a1-af33-49643da383cb +type: NodeTextDefinitionChange +old_value: Heightened emotional reactivity to environmental stimuli, including emotions + of others. +new_value: Heightened emotional reactivity to environmental stimuli, including the + emotions of others. +about_node: HP:0041092 + +--- +id: uuid:5548d225-2e2e-4d3d-820f-7235ffe776c7 +type: NodeTextDefinitionChange +old_value: A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs + as an opacity greater than 3 cm in diameter\n(without regard to contour, border, + or density characteristics). Mass usually implies a solid or partly solid opacity. + CT allows more exact evaluation of size, location, attenuation, and other features. +new_value: A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs + as an opacity greater than 3 cm in diameter (without regard to contour, border, + or density characteristics). Mass usually implies a solid or partly solid opacity. + CT allows more exact evaluation of size, location, attenuation, and other features. +about_node: HP:0033822 + +--- +id: uuid:bce197d1-88bf-4f04-ad04-0da1a227850d +type: NodeRename +old_value: Morphological abnormality of the anterior semicircular canal +new_value: Abnormal anterior semicircular canal morphology +about_node: HP:0040108 + +--- +id: uuid:ca23107a-a0aa-4da1-8faf-4aa2057b578a +type: NodeTextDefinitionChange +old_value: An increased concentration of protoporphyrins in erythrocytes. +new_value: Concentration of protoporphyrins in erythrocytes above the upper limit + of normal. +about_node: HP:0012187 + +--- +id: uuid:f2bb9f3c-3029-40fa-888d-ea0d5c9e1227 +type: NodeTextDefinitionChange +old_value: A feeling of general unease or nervousness that may be triggered by a sense + of vulnerability or instability which is perceived as threatening. +new_value: A feeling of general unease or nervousness that may be triggered by a sense + of vulnerability or instability, which is perceived as threatening. +about_node: HP:0033625 + +--- +id: uuid:02c35eae-04c6-44bd-8044-76807d21e612 +type: NodeTextDefinitionChange +old_value: A subtle unilateral cleft of the upper lip, which may appear as a small + indentation. +new_value: Cleft of the upper lip that does not go all the way from the bottom of + the upper lip until the nasal cavity. +about_node: HP:0011340 + +--- +id: uuid:9bc3399e-ebbb-4e5a-af78-7df4ba3565e7 +type: NodeRename +old_value: Vitamin B12 deficiency +new_value: Decreased circulating vitamin B12 concentration +about_node: HP:0100502 + +--- +id: uuid:bc80855c-2867-4ad1-bd85-4eb63e69656a +type: NewTextDefinition +new_value: The concentration of vitamin B12 in the blood circulation is below the + lower limit of normal. +about_node: HP:0100502 + +--- +id: uuid:910fa332-01ce-46c8-8911-9c1795a97f02 +type: NodeRename +old_value: Chronic decreased cirulating IgG2 +new_value: Chronic decreased circulating IgG2 +about_node: HP:0041063 + +--- +id: uuid:6223ff94-5508-4914-9dcb-34603ad9a9c3 +type: NodeRename +old_value: Abnormality of brain morphology +new_value: Abnormal brain morphology +about_node: HP:0012443 + +--- +id: uuid:0947c32a-ed0b-411a-b315-ff985a68859f +type: NodeTextDefinitionChange +old_value: Cleft soft palate in which the cleft goes through the entire length of + the soft palate. +new_value: Cleft soft palate in which the cleft goes through the entire length of + the soft palate, i.e. from the posterior border of the hard palate until the uvula. +about_node: HP:5201005 + +--- +id: uuid:b1f0d004-0606-4a26-9f53-21c92aa8ede2 +type: NodeRename +old_value: Abnormality of the clitoris +new_value: Abnormal clitoris morphology +about_node: HP:0000056 + +--- +id: uuid:97d7b584-9eed-4c49-b8db-3e946600f983 +type: NodeTextDefinitionChange +old_value: An abnormality of the clitoris. +new_value: Any structural abnormality of the clitoris. +about_node: HP:0000056 + +--- +id: uuid:983ec337-cd4d-4bbe-b3bd-2203078232f8 +type: NodeRename +old_value: Abnormality of higher mental function +new_value: Abnormality of mental function +about_node: HP:0011446 + +--- +id: uuid:59801654-1185-481c-b1bf-154b6c08f120 +type: NodeTextDefinitionChange +old_value: Cognitive, psychiatric or memory anomaly. +new_value: Cognitive, psychiatric, or memory anomaly. +about_node: HP:0011446 + +--- +id: uuid:1b361be2-714c-42e5-bb4a-e0e7dc060de3 +type: NodeTextDefinitionChange +old_value: An abnormally increased number of myelocytes in the peripheral blood circulation. + Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or + oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday + granules, and a nucleus:cytoplasm ratio of 2:1. +new_value: The number of myelocytes in the peripheral blood circulation is above the + upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 + micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm + with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1. +about_node: HP:0032237 + +--- +id: uuid:f4bfd2d5-70db-4b6e-ab19-e9b2ec0cb58d +type: NodeTextDefinitionChange +old_value: A type of persistance of the hyaloid vascular system associated with a + retrolental mass that may lead to fetal cataract. +new_value: A type of persistence of the hyaloid vascular system associated with a + retrolental mass that may lead to fetal cataract. +about_node: HP:0030744 + +--- +id: uuid:148e0dbb-97bc-45c3-94c6-4bb62b9eb7bd +type: NodeRename +old_value: Exacerbated by barbiturate medication +new_value: Exacerbated by barbiturate exposure +about_node: HP:0032502 + +--- +id: uuid:af686f7e-ee97-4b03-a8cf-87caa1443ffd +type: NodeTextDefinitionChange +old_value: A conspicuously unhappy disposition characterized by negative assumptions, + self-defeating talk, fear of failure, and negative ruminations about past events. +new_value: A noticeably unhappy disposition is characterized by negative assumptions, + self-defeating talk, fear of failure, and negative rumination about past events. +about_node: HP:0031588 + +--- +id: uuid:3bd19870-f5f9-44bd-bb05-481897068bb7 +type: NodeTextDefinitionChange +old_value: Abnormal structure of the rete ridges (also known as rete pegs), which + are\ndownward projections of epithelium surrounding the connective tissue papillae + in between the dermal papillae. +new_value: Abnormal structure of the rete ridges (also known as rete pegs), which + are downward projections of epithelium surrounding the connective tissue papillae + in between the dermal papillae. +about_node: HP:0034767 + +--- +id: uuid:d788146c-a4a9-4157-8a30-1cef96400720 +type: NodeRename +old_value: Abnormality of dental morphology +new_value: Abnormal dental morphology +about_node: HP:0006482 + +--- +id: uuid:160d9eb4-37a6-4c05-b5ee-c40f4d42276e +type: NodeRename +old_value: Abnormality of limb bone morphology +new_value: Abnormal limb bone morphology +about_node: HP:0002813 + +--- +id: uuid:ade155da-b4fe-4f82-8d12-99bd15ad4e2f +type: NodeRename +old_value: Abnormality of upper limb epiphysis morphology +new_value: Abnormal upper limb epiphysis morphology +about_node: HP:0003839 + +--- +id: uuid:e0f9bc84-a18b-4c40-85eb-9b8c6551dffb +type: NodeTextDefinitionChange +old_value: Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. +new_value: Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) that occurs at both sides of the body symmetrically. +about_node: HP:0032836 + +--- +id: uuid:0fc8cb2b-4f72-4d77-b43e-a23c57854a06 +type: NodeTextDefinitionChange +old_value: A parenchymal band is a linear opacity, usually 1-3 mm thick and up to + 5 cm long that usually extends to the visceral pleura\n(which is often thickened + and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis + and is usually associated with distortion of the lung architecture. Parenchymal + bands are most frequently encountered in individuals who have been exposed to asbestos. +new_value: A parenchymal band is a linear opacity, usually 1-3 mm thick and up to + 5 cm long that usually extends to the visceral pleura (which is often thickened + and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis + and is usually associated with distortion of the lung architecture. Parenchymal + bands are most frequently encountered in individuals who have been exposed to asbestos. +about_node: HP:0033650 + +--- +id: uuid:30684e4e-b0c4-4b99-863e-f70b306f7bce +type: NodeTextDefinitionChange +old_value: Pachygyria with cortical thickness between 5 and 10 mm with and a posterior + predominant severety gradient. The severety gradient is determined based on the + gyral width, with gyri typically over 5mm over the more severely affected regions. + Posterior predominant gradient indicates pachygyria more severe other the occipital + lobes but also includes a rare perisylvian-predominant pachygyria and a temporal + predominant pachygyria. +new_value: Pachygyria with cortical thickness between 5 and 10 mm with and a posterior + predominant severity gradient. The severity gradient is determined based on the + gyral width, with gyri typically over 5mm over the more severely affected regions. + Posterior predominant gradient indicates pachygyria more severe other the occipital + lobes but also includes a rare perisylvian-predominant pachygyria and a temporal + predominant pachygyria. +about_node: HP:0020188 + +--- +id: uuid:e95dcf31-4fc0-4c7c-a427-e0977d77951c +type: NewTextDefinition +new_value: Apathy is a quantitative reduction of motivation and the initiation and + persistence of goal-directed behavior, where the accompanying emotions, thoughts, + and social interactions are also suppressed. +about_node: HP:0000741 + +--- +id: uuid:a950fcd3-8b02-40a6-a474-413b09fcc1fb +type: NodeRename +old_value: Aplasia of the fingers +new_value: Finger aplasia +about_node: HP:0009380 + +--- +id: uuid:1cd79379-7884-40fb-be38-04fb600da536 +type: NodeTextDefinitionChange +old_value: Aplasia of one or more fingers. +new_value: A developmental defect resulting in the presence of fewer than the normal + number of fingers (i.e., aplasia of one or more fingers). +about_node: HP:0009380 + +--- +id: uuid:9dc84008-88fc-47db-8dbe-ef61be41b91c +type: NewTextDefinition +new_value: Changes in one's level of awareness and responsiveness to their environment. +about_node: HP:0007159 + +--- +id: uuid:0e9f7164-68d7-4d0f-9754-fed594523b67 +type: NodeRename +old_value: Aggression toward cargivers +new_value: Aggression towards caregivers +about_node: HP:5200126 + +--- +id: uuid:3e998342-de69-4f5a-98ac-3ea5324acbb5 +type: NewTextDefinition +new_value: Aggression that is directed towards caregivers. +about_node: HP:5200126 + +--- +id: uuid:0c2b05b2-ef67-4355-b3f1-7fbe85e4f237 +type: NodeRename +old_value: Increased serum lactate +new_value: Increased circulating lactate concentration +about_node: HP:0002151 + +--- +id: uuid:9c06728f-01e0-47ce-96d7-ab3303e1d9fb +type: NodeTextDefinitionChange +old_value: Increased concentration of glutarylcarnitine in the blood circulation. +new_value: Concentration of glutarylcarnitine in the blood circulation above the upper + limit of normal. +about_node: HP:0033442 + +--- +id: uuid:c416e6c2-2206-4ac6-9d0c-79fec8c6decd +type: NodeTextDefinitionChange +old_value: Amount of fumaric acid in the urine above normal limits. +new_value: The concentration of fumaric acid in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0034648 + +--- +id: uuid:13eaaab4-4dd1-4ac2-9a6f-d142ae2f4f0c +type: NodeTextDefinitionChange +old_value: Difficulty in recognizing objects by visual input in absence of sensorial + visual impairment. +new_value: The condition is known as visual agnosia, which refers to the inability + to recognize objects that are visually presented, even though the individual may + have normal visual field, acuity, color vision, brightness discrimination, language, + and memory. +about_node: HP:0030222 + +--- +id: uuid:eb6bcbba-0904-43af-9600-4abbefb664cb +type: NodeRename +old_value: Abnormality of the scrotum +new_value: Abnormal scrotum morphology +about_node: HP:0000045 + +--- +id: uuid:cb34f5f1-a052-45dd-a326-6be850e878dd +type: NewTextDefinition +new_value: Any structural abnormality of the scrotum, i.e., the sac that contains + the testes, epididymis, and the lower part of the spermatic cord. +about_node: HP:0000045 + +--- +id: uuid:23472aaa-c9e7-4be9-90ca-a65e66996adb +type: NodeRename +old_value: Opioid addiction +new_value: Addictive opioid use +about_node: HP:0033515 + +--- +id: uuid:e98826c4-2e5c-46a5-ac63-8701421b178f +type: NodeRename +old_value: Morphological abnormality of the nerves of the inner ear +new_value: Abnormal inner ear nerve morphology +about_node: HP:0011391 + +--- +id: uuid:3c4bc98f-f065-4c44-985e-6b1632892b16 +type: NodeTextDefinitionChange +old_value: An increased concentration of tiglylglycine in the blood circulation. +new_value: Concentration of tiglylglycine in the blood circulation above the upper + limit of normal. +about_node: HP:0034290 + +--- +id: uuid:1efc9a0d-c9cb-442a-8996-eb4f901b3c01 +type: NodeRename +old_value: Oligospermia +new_value: Oligozoospermia +about_node: HP:0000798 + +--- +id: uuid:5d8a16dc-11e6-4ef8-ab3d-fdce3b94e5d7 +type: NodeRename +old_value: Decreased beta-mannosidase activity +new_value: Decreased circulating beta-mannosidase activity +about_node: HP:0034367 + +--- +id: uuid:1eb6cc28-b283-4d51-9b3f-44a8e34384e0 +type: NodeTextDefinitionChange +old_value: Abnormal difficulty in staying asleep. Affected individuals tend to wake + up at night and have difficulty returning to sleep. +new_value: Individuals affected by abnormal difficulty in staying asleep tend to wake + up at night and struggle to return to sleep. This condition typically involves spending + more than 30 minutes awake during the night. +about_node: HP:0031355 + +--- +id: uuid:fe26da8e-e2a9-41b9-ace9-287fdd735ab9 +type: NodeTextDefinitionChange +old_value: Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized + EEG patterns, increases in heart rate and blood pressure, sympathetic activation, + and a profound loss of muscle tonus except for the eye and middle-ear muscles. There + are then phases of rapid eye movements. +new_value: Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized + EEG patterns, increases in heart rate and blood pressure, sympathetic activation, + and a profound loss of muscle tone except for the eye and middle-ear muscles. There + are also phases of rapid eye movements. +about_node: HP:0002494 + +--- +id: uuid:c3eaa854-17b1-4809-8f4e-0432e88f8661 +type: NodeTextDefinitionChange +old_value: A groove or crease on the shins (pretibial, i.e., over the shin bone). + Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm + in length and lenghten as the limb grows. They appear as an elongated dimple because + of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple + or crease grows in proportion to the growth of the leg. +new_value: A groove or crease on the shins (pretibial, i.e., over the shin bone). + Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm + in length and lengthen as the limb grows. They appear as an elongated dimple because + of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple + or crease grows in proportion to the growth of the leg. +about_node: HP:0032538 + +--- +id: uuid:482bd643-56e4-4870-aa14-135d01ee6a17 +type: NodeTextDefinitionChange +old_value: Amount of malonic acid in urine above upper limit of normal. +new_value: The concentration of malonic acid in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0034657 + +--- +id: uuid:091720fb-fe67-4c6e-a972-f7ef7e2644c5 +type: NodeRename +old_value: Abnormality of medullary pyramid morphology +new_value: Abnormal medullary pyramid morphology +about_node: HP:0025361 + +--- +id: uuid:1513ed06-607e-4b9c-97d3-3f2296e32b5e +type: NewTextDefinition +new_value: Coma induced by low blood sugar. +about_node: HP:0001325 + +--- +id: uuid:e3217e39-d730-43be-ba85-ff9feef0752f +type: NodeRename +old_value: Abnormal calcium-phosphate regulating hormone level +new_value: Abnormal circulating calcium-phosphate regulating hormone concentration +about_node: HP:0100530 + +--- +id: uuid:17b92abb-d36c-4d4e-a707-6a23686b4aa6 +type: NewTextDefinition +new_value: Relatively short-lived periods of psychosis are characterized by the sudden + onset of severe disturbances in perception, thinking, and behavior. These episodes + typically last for a brief duration, generally ranging from a few days to a few + weeks, and are often triggered by a significant stressor or traumatic event. +about_node: HP:0006932 + +--- +id: uuid:b2e5d597-e9f3-4627-8473-ee31d8a15915 +type: NodeTextDefinitionChange +old_value: Amount of octenedioic acid in the urine above the upper limit of normal. +new_value: The concentration of octenedioic acid in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0034652 + +--- +id: uuid:99a435a1-6a16-405a-b216-a018ea215258 +type: NodeRename +old_value: Abnormality of the auditory canal +new_value: Abnormal auditory canal morphology +about_node: HP:0000372 + +--- +id: uuid:827e2f58-1ccf-49eb-bd0a-6ba79423ce70 +type: NodeTextDefinitionChange +old_value: An abnormality of the External acoustic tube (also known as the auditory + canal). +new_value: Any structural abnormality of the external acoustic tube (also known as + the auditory canal). +about_node: HP:0000372 + +--- +id: uuid:39d333f8-5bf7-422e-b151-9d5b8f64335b +type: NodeTextDefinitionChange +old_value: A progressive detrimental connective tissue deposition (fibrosis) on the + kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial + injury in the kidney is complex, involving a number of independent and overlapping + cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy + (IF/TA) as the final common pathway. However, IF and TA are separable, as shown + by the profound TA in renal artery stenosis, which characteristically has little + or no fibrosis (or inflammation). For new annotations it is preferable to annotate + to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular + atrophy. +new_value: A progressive detrimental connective tissue deposition (fibrosis) on the + kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial + injury in the kidney is complex, involving a number of independent and overlapping + cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy + (IF/TA) as the final common pathway. However, IF and TA are separable, as shown + by the profound TA in renal artery stenosis, which characteristically has little + or no fibrosis (or inflammation). For new annotations it is preferable to annotate + to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. +about_node: HP:0005576 + +--- +id: uuid:95915e28-e724-413e-a59f-6b393fdd617a +type: NodeTextDefinitionChange +old_value: The ability of a joint to move beyond its normal range of motion. +new_value: The capability that a joint (or a group of joints) has to move, passively + and/or actively, beyond normal limits along physiological axes. +about_node: HP:0001382 + +--- +id: uuid:f176334a-dcfd-4fbe-b61f-f5c672e9beed +type: NodeRename +old_value: Morphological abnormality of the papillary muscles +new_value: Abnormal papillary muscle morphology +about_node: HP:0025445 + +--- +id: uuid:3107f5ab-1810-4f18-bd2c-1a92a15ab74a +type: NodeRename +old_value: Elevated 7-dehydrocholesterol +new_value: Elevated circulating 7-dehydrocholesterol concentration +about_node: HP:0010569 + +--- +id: uuid:53eac918-4454-4743-9ac1-6cefab4d9141 +type: NodeTextDefinitionChange +old_value: Elevated 7-dehydrocholesterol levels. +new_value: Concentration of 7-dehydrocholesterol in the blood circulation above the + upper limit of normal. +about_node: HP:0010569 + +--- +id: uuid:a2f42ad8-4681-4297-839b-7598a9a601c2 +type: NodeRename +old_value: Shortened sleep cycle +new_value: Shortened sleep phase +about_node: HP:0033063 + +--- +id: uuid:12de1ebe-4344-4470-b8e5-123c040b2bc8 +type: NodeTextDefinitionChange +old_value: A tendency to sleep less hours than usual while feeling well rested. +new_value: A tendency to sleep fewer hours than usual while feeling well-rested. +about_node: HP:0033063 + +--- +id: uuid:866111b3-32e5-433f-b868-f0cdced0ba49 +type: NodeTextDefinitionChange +old_value: Repetition of one's own words or phrases. +new_value: Repetition of one's own words or phrases is a common occurrence. +about_node: HP:0031814 + +--- +id: uuid:c88b9d70-65d4-417c-82a4-b0b6dde69d17 +type: NodeRename +old_value: Elevated circulating vitamin B6 level +new_value: Elevated circulating vitamin B6 concentration +about_node: HP:0032477 + +--- +id: uuid:c1488dd7-b8f8-46f3-b710-f79fea5a53e7 +type: NodeTextDefinitionChange +old_value: An anomaly in the system of mucociliary transport, which functions to transport + the mucous layer lining the respiratory epithelium by ciliary \nbeating. +new_value: An anomaly in the system of mucociliary transport, which functions to transport + the mucous layer lining the respiratory epithelium by ciliary beating. +about_node: HP:0031602 + +--- +id: uuid:b1f90527-1e4d-44f9-a8c7-123a9728c0de +type: NodeRename +old_value: Visual hallucinations +new_value: Visual hallucination +about_node: HP:0002367 + +--- +id: uuid:6534ba61-3f2b-4c92-a7e0-d1b54dab788b +type: NodeTextDefinitionChange +old_value: Visual perceptions that are not elicited by a corresponding stimulus from + the outside world. +new_value: Visual perception in the absence of a visual stimulus. +about_node: HP:0002367 + +--- +id: uuid:4135f80d-740d-4cf6-9dcc-a58f0f9ebfa7 +type: NodeTextDefinitionChange +old_value: An increased amount of hexanoic acid in the urine. +new_value: The concentration of hexanoic acid in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0034497 + +--- +id: uuid:092c81a9-ef67-4b02-853d-35ec4d7633e7 +type: NodeTextDefinitionChange +old_value: The presence of a cleft in the oral cavity, the two main types of which + are cleft lip and cleft palate. In cleft lip, there is the congenital failure of + the maxillary and median nasal processes to fuse, forming a groove or fissure in + the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, + forming a grooved depression or fissure in the roof of the mouth. Clefts of the + lip and palate can occur individually or together. It is preferable to code each + defect separately. +new_value: The presence of a cleft (gap, opening, or groove) in the oral cavity, including + cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible + as a groove or fissure in the lip, most frequently due to a congenital failure of + the maxillary and median nasal processes to fuse. Cleft palate is characterized + by a grooved depression or fissure in the roof of the mouth, most often resulting + from a congenital failure of the palate to fuse properly. Clefts of the lip and + palate can occur individually or together. It is preferable to code each defect + separately. +about_node: HP:0000202 + +--- +id: uuid:f2377b70-6ced-483c-941b-b5674e63e24e +type: NodeTextDefinitionChange +old_value: Increased concentration of porphobilinogen in the urine. +new_value: The concentration of porphobilinogen in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0012217 + +--- +id: uuid:3c84f5b3-b4a8-4378-8663-048d70ec50d1 +type: NodeTextDefinitionChange +old_value: Pharyngeal spasms provoked by an attempt to drink. +new_value: The word hydrophobia has been used to describe the avoidance of drinking + in the presence of hydrophobic spasms that can be observed in human rabies (described + as a blockage in the throat with worsening of dyspnea). However, rarely, the same + word has been used to describe panic reactions observed in a patient when offered + a glass of water. This term does not refer to the latter meaning. +about_node: HP:0032505 + +--- +id: uuid:04afe274-a9d2-4444-912a-6664f1ddc592 +type: NodeRename +old_value: Maternal barbiturate exposure +new_value: Fetal barbiturate exposure +about_node: HP:0034757 + +--- +id: uuid:4587f935-9978-44e5-8a33-67a7c3eb4d09 +type: NodeRename +old_value: Abnormality of the ductus choledochus +new_value: Abnormal ductus choledochus morphology +about_node: HP:0100889 + +--- +id: uuid:f7a8a755-7ff2-4a60-826f-92c17f8c9b6c +type: NodeTextDefinitionChange +old_value: Abnormality of galactoside metabolism. A galactoside is a glycoside (a + suger moiety bound to some other moiety) containing galactose. +new_value: Abnormality of galactoside metabolism. A galactoside is a glycoside (a + sugar moiety bound to some other moiety) containing galactose. +about_node: HP:0004342 + +--- +id: uuid:2112c79c-c52f-456b-836b-230f28539395 +type: NodeRename +old_value: Abnormality of olfactory lobe morphology +new_value: Abnormal olfactory lobe morphology +about_node: HP:0025057 + +--- +id: uuid:570d578b-633b-40fa-95d6-4205334426a5 +type: NodeTextDefinitionChange +old_value: A temper tantrum is an emotional outburst usually triggered by a sense + of frustration and manifested as whining and crying, screaming, kicking, hitting, + and breath holding. Temper tantrums are normal in toddlers and young children and + usually happen between the ages of one to three years. Temper tantrums may be considered + abnormal if they occur at an unusually high frequency, are of unusual severity, + or occur at an old age than usual. +new_value: Temper tantrums are brief episodes of extreme, unpleasant, and sometimes + aggressive behaviors in response to frustration or anger, which are a normal part + of development in toddlers. Temper tantrums that occur more frequently in a given + time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate + for the given age compared to a temper tantrum that naturally occurs as a part of + the developmental process are classified as abnormal temper tantrums. +about_node: HP:0025160 + +--- +id: uuid:6b4f84ce-82db-4524-b4bc-683a673a4700 +type: NodeTextDefinitionChange +old_value: Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation + in which distinct tracheal rings are replaced by a continuous cartilaginous segment. + Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis + to the carina or bronchus with little to no pars membranacea posteriorly.\nComment:Tracheal + cartilaginous sleeve has been associated with various craniosynostosis syndromes. +new_value: Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation + in which distinct tracheal rings are replaced by a continuous cartilaginous segment. + Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis + to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal + cartilaginous sleeve has been associated with various craniosynostosis syndromes. +about_node: HP:0005347 + +--- +id: uuid:a98ae4a1-fbd7-48e4-a5ce-b91054daef08 +type: NodeTextDefinitionChange +old_value: 'A type of proteinuria characterized by increased permeability of the glomerular + capillary wall to macromolecules (particularly albumin), whereby protein excretion + can reach 20 g/24 h and consists mainly of albumin. \nPMID: 19634399' +new_value: A type of proteinuria characterized by increased permeability of the glomerular + capillary wall to macromolecules (particularly albumin), whereby protein excretion + can reach 20 g/24 h and consists mainly of albumin. +about_node: HP:4000058 + +--- +id: uuid:0b31c8fb-dd18-45af-899e-96c016c98b8f +type: NewTextDefinition +new_value: The spontaneous detachment of a digit (finger or toe) from the body due + to long standing pathology. +about_node: HP:0007460 + +--- +id: uuid:caf7082b-9536-487b-99ad-4ec4eeb5fdba +type: NodeRename +old_value: Eczema +new_value: Eczematoid dermatitis +about_node: HP:0000964 + +--- +id: uuid:989aaa3f-37a8-434e-b493-a57ced6effc9 +type: NodeTextDefinitionChange +old_value: Eczema is a form of dermatitis. The term eczema is broadly applied to a + range of persistent skin conditions and can be related to a number of underlying + conditions. Manifestations of eczema can include dryness and recurring skin rashes + with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, + oozing, or bleeding. +new_value: Eczema is a form of dermatitis that is characterized by scaly, pruritic, + erythematous lesions located on flexural surfaces. +about_node: HP:0000964 + +--- +id: uuid:4ad47d12-0297-4054-a362-f306d6474eb6 +type: NodeTextDefinitionChange +old_value: A reduced proportion of sperm that move in a straight line or large circles; + alternatively, an increaed proportion of sperm that move in tight circles or in + some other non-linear fashion. +new_value: A reduced proportion of sperm that move in a straight line or large circles; + alternatively, an increased proportion of sperm that move in tight circles or in + some other non-linear fashion. +about_node: HP:0034011 + +--- +id: uuid:bcff4f05-ad39-4b6b-a764-339ab1fb69a8 +type: NodeRename +old_value: Low levels of vitamin D +new_value: Decreased circulating vitamin D concentration +about_node: HP:0100512 + +--- +id: uuid:216fec0f-ee82-42f3-956c-dc6c55844647 +type: NodeTextDefinitionChange +old_value: A reduced concentration of Vitamin D. +new_value: The concentration of vitamin D in the blood circulation is below the lower + limit of normal. +about_node: HP:0100512 + +--- +id: uuid:6758955f-9a0d-4ffe-8ed0-4cb02e188b15 +type: NodeRename +old_value: Increased circulating thyroglobulin level +new_value: Increased circulating thyroglobulin concentration +about_node: HP:0025484 + +--- +id: uuid:35ce0c57-2494-4465-b7b9-51109e264c88 +type: NodeTextDefinitionChange +old_value: Increased amplitude of the U wave, defined as an amplitude grerater than + 1-2mm or 25 percent of the height of the T wave. +new_value: Increased amplitude of the U wave, defined as an amplitude greater than + 1-2mm or 25 percent of the height of the T wave. +about_node: HP:0025072 + +--- +id: uuid:f5e3c678-51b7-4e9b-973d-7b3bd4f072d7 +type: NodeRename +old_value: Macrocephalic sperm head +new_value: Macrozoospermia +about_node: HP:0025437 + +--- +id: uuid:4cecb98c-90d9-4cf5-8eda-bbc15065da5c +type: NodeRename +old_value: Increased urinary hypoxanthine +new_value: Increased urinary hypoxanthine level +about_node: HP:0011814 + +--- +id: uuid:e86bb31a-40d7-42c8-91a1-b3d4333d5032 +type: NodeTextDefinitionChange +old_value: An increased level of hypoxanthine in the urine. +new_value: The concentration of hypoxanthine in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0011814 + +--- +id: uuid:ef62ba60-1b8b-46aa-9121-f44188ff440c +type: NewTextDefinition +new_value: An explicit or perceived action, demonstration, conduct, or language (verbal + and written) that is contrary to generally accepted norms, rules, procedures, or + unacceptable within the context in which it is carried out. Inappropriate behaviors + could take place in a sexual or social context and could be aggressive, violent, + impulsive, intimidating, or threatening in nature. +about_node: HP:0000719 + +--- +id: uuid:3ef4b36e-1e81-4e9d-965f-43c17d9b7f06 +type: NodeTextDefinitionChange +old_value: A state of exceeding restlessness and excessive motor activity associated + with mental distress or a feeling of inner tension. +new_value: A state of extreme restlessness and excessive motor activity is associated + with mental distress or a feeling of inner tension. +about_node: HP:0000713 + +--- +id: uuid:6238c3ca-7bc7-4810-8dc2-9bbb6ed76962 +type: NodeRename +old_value: Reduced serum alpha-1-antitrypsin +new_value: Reduced circulating alpha-1-antitrypsin concentration +about_node: HP:0032025 + +--- +id: uuid:7b04a7ce-3f00-4e58-a9be-5f61a7709053 +type: NodeTextDefinitionChange +old_value: A reduced concentration of circulating alpha-1 antitrypsin, which is a + 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. + Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining + protease-antiprotease homeostasis in the lungs. +new_value: A reduced concentration or activity of circulating alpha-1 antitrypsin, + which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into + the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is + crucial in maintaining protease-antiprotease homeostasis in the lungs. +about_node: HP:0032025 + +--- +id: uuid:0be20e8e-f7c3-44c8-8664-7c46bc038798 +type: NewTextDefinition +new_value: Lack of insight (Anosognosia) is a neurological condition in which an individual + is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia + can be associated with mental illness, dementia, and structural brain lesions and + can affect an indviduals's conscious awareness of deficits involving judgment, emotions, + memory, executive function, language skills, and motor ability. +about_node: HP:0000757 + +--- +id: uuid:20d0f740-0d20-41a5-93e5-0db75a386df8 +type: NodeTextDefinitionChange +old_value: The feeling of frustration can be defined as an emotional reaction that + occurs if a desired goal is not achieved. Frustration intolerance is defined as + an age-inappropriate response to frustration characterized by crying or temper tantrums + (in children) or aggressive or other undesirable behaviors. +new_value: The feeling of frustration can be defined as an emotional reaction that + occurs when a desired goal is not achieved. Frustration intolerance is defined as + an age-inappropriate response to frustration, characterized by crying or temper + tantrums in children, or aggressive or other undesirable behaviors. +about_node: HP:0000744 + +--- +id: uuid:8cffabc7-b6c4-4456-b6e1-01b07f7136ff +type: NewTextDefinition +new_value: Movement in the sagittal plane that increases the angle of the thumb joint + (straightens the joint); motion involving posterior bending of the vertebral column + or returning to the upright position from a flexed position. +about_node: HP:0034667 + +--- +id: uuid:c119874a-44c0-43bd-85a5-80631e1677e2 +type: NodeTextDefinitionChange +old_value: A behavioral or psychological symptom that typically occurs following exposure + to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include + intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); + avoidant and numbing symptoms (including diminished emotions and avoidance of situations + that are reminders of the traumatic event); and hyperarousal (including increased + irritability, exaggerated startle reactions or difficulty sleeping or concentrating). +new_value: A behavioral or psychological symptom that typically occurs following exposure + to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms + of PTSD include intrusive recollections, such as re-experiencing the trauma through + flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant + and numbing symptoms, which can include diminished emotions and avoidance of situations + that serve as reminders of the traumatic event. Hyperarousal is another symptom, + characterized by increased irritability, exaggerated startle reactions, and difficulties + with sleeping or concentrating. +about_node: HP:0033676 + +--- +id: uuid:769952a5-18cd-455c-bbb7-319a85a5dd6d +type: NodeRename +old_value: Erythema of the eyelids +new_value: Eyelid erythema +about_node: HP:0040323 + +--- +id: uuid:109d57a4-fc05-4dbb-86cf-139e2d685e50 +type: NodeRename +old_value: Decreased plasma carnitine +new_value: Decreased circulating carnitine concentration +about_node: HP:0003234 + +--- +id: uuid:94442807-e9d4-49ec-ab01-0e6e4d56435c +type: NodeTextDefinitionChange +old_value: A decreased concentration of carnitine in the blood. +new_value: Concentration of carnitine in the blood circulation below the lower limit + of normal. +about_node: HP:0003234 + +--- +id: uuid:8b61eb8f-9e24-4248-8ad1-42781c7ccdd6 +type: NodeTextDefinitionChange +old_value: An increase in the level of succinate in the urine. +new_value: The concentration of succinate in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0033092 + +--- +id: uuid:7995f40b-649e-482d-82aa-21c3e241a74f +type: NodeRename +old_value: Alcoholism +new_value: Addictive alcohol use +about_node: HP:0030955 + +--- +id: uuid:cc5ab50d-8c89-4d38-92a8-afa7d1a1dd49 +type: NodeTextDefinitionChange +old_value: An addictive behavior defined as drinking excessive amounts of alcohol + over a long period of time, having difficulty reducing the amount of alcohol consumed, + strongly desiring alcohol and experiencing withdrawal symptoms when not drinking + alcohol. +new_value: An addictive behavior is defined as drinking excessive amounts of alcohol + over a prolonged period of time, having difficulty in reducing the amount of alcohol + consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not + drinking alcohol. +about_node: HP:0030955 + +--- +id: uuid:78b3d8c2-e6f8-490f-9f96-7c33f1412189 +type: NodeTextDefinitionChange +old_value: Onset of disease manifestations before adulthood, defined here as before + the age of 15 years, but excluding neonatal or congenital onset. +new_value: Onset of disease manifestations before adulthood, defined here as before + the age of 16 years, but excluding neonatal or congenital onset. +about_node: HP:0410280 + +--- +id: uuid:41ad4a21-4eca-43cb-8004-534aae1a08da +type: NodeTextDefinitionChange +old_value: An unusually happy aspect over time which can also may be observed during + inappropriate situations that should be causing for example distress, fear or anger. +new_value: An unusually happy demeanor over time, which can also be observed during + inappropriate situations that should, for example, cause distress, fear, or anger. +about_node: HP:0100024 + +--- +id: uuid:8b8dcd03-5bc6-4398-b1d0-01ebeb62316d +type: NodeTextDefinitionChange +old_value: An abnormality of mental functioning affecting the personality and behavioural + tendencies of an individual and characterized by a rigid and unhealthy pattern of + thinking and behavior. The definition of a personal disorder implies that the abnormality + is not the result of damage or insult to the brain or from another psychiatric disorder. +new_value: A personality disorder is a deeply ingrained pattern of behavior of a specified + kind that deviates markedly from the norms of generally accepted behavior. It is + typically apparent by the time of adolescence and causes long-term difficulties + in personal relationships or functioning in society. +about_node: HP:0012075 + +--- +id: uuid:b368a9b9-8f3b-4734-b9cf-add6fe0051c9 +type: NodeTextDefinitionChange +old_value: A lack or loss of appetite for food (as a medical condition). +new_value: Anorexia, or the loss of appetite for food, is a medical condition. +about_node: HP:0002039 + +--- +id: uuid:e3c47ba9-3857-4540-9d2e-07807d6e1f46 +type: NodeRename +old_value: Vivid hallucinations +new_value: Vivid hallucination +about_node: HP:0006803 + +--- +id: uuid:e069fa87-e9bc-422a-af12-ca7a15421be7 +type: NewTextDefinition +new_value: Perceptual experiences that are vivid, intense, and sensory in nature occur + in the absence of corresponding stimuli from the external environment. +about_node: HP:0006803 + +--- +id: uuid:bca5be87-4795-4a22-9327-c5a0f2ab765a +type: NodeRename +old_value: Low self esteem +new_value: Low self-esteem +about_node: HP:0031469 + +--- +id: uuid:25e55e9b-61ca-4867-b654-ef6c5e8ea07f +type: NodeTextDefinitionChange +old_value: Negative opinion about oneself characterized by low self-confidence and + exaggeratedly critical feelings about oneself. +new_value: Low self-confidence and excessively critical feelings about oneself characterize + a negative opinion about oneself. +about_node: HP:0031469 + +--- +id: uuid:860a4b67-fbc2-4bdf-aab9-3296bb15c888 +type: NodeTextDefinitionChange +old_value: A feeling of sadness characterized by crying episodes that can come on + suddenly and are not under usual social control. +new_value: A feeling of sadness characterized by episodes of crying that can occur + suddenly and are not easily controlled in social situations. +about_node: HP:0033705 + +--- +id: uuid:354b9e04-cce3-4fcd-bc2e-efea9b79d4fb +type: NodeRename +old_value: Increased level of ribose in CSF +new_value: Increased CSF ribose concentration +about_node: HP:0410073 + +--- +id: uuid:ebab1fcd-53a8-4926-bfed-d1efb0b5ae7f +type: NodeTextDefinitionChange +old_value: An increase in the level of ribose in the cerebrospinal fluid. +new_value: The concentration of ribose in the cerebrospinal fluid is above the upper + limit of normal. +about_node: HP:0410073 + +--- +id: uuid:edcfc9e0-8327-4560-9919-8258f78cbdfa +type: NodeTextDefinitionChange +old_value: An undesirable physical event or experience that occurs during entry into + sleep, during sleep, or during arousal from sleep. +new_value: An undesirable physical event or experience that occurs during the process + of falling asleep, while asleep, or when waking up from sleep. +about_node: HP:0025234 + +--- +id: uuid:018c039a-a1d1-40eb-83aa-7746a0a7e728 +type: NodeRename +old_value: Abnormality of the alveolar ridges +new_value: Abnormal alveolar ridge morphology +about_node: HP:0006477 + +--- +id: uuid:0d1a37c7-906b-43db-a6bc-e7fac31417c2 +type: NodeRename +old_value: Intrapulmonary sequestration +new_value: Intrapulmonary lobar sequestration +about_node: HP:0011278 + +--- +id: uuid:53e8be43-3c23-4046-b8b8-08d3fb486d60 +type: NodeTextDefinitionChange +old_value: The presence of calcium deposition within brain structures. +new_value: The presence of calcium deposition within the cerebrum. +about_node: HP:0002514 + +--- +id: uuid:32ce9226-05fc-486e-afbf-79cb27a3bef8 +type: NodeTextDefinitionChange +old_value: Diffuse filling of the distal airsspaces of the lungs, the alveoli, with + macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally + by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes + plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal + pneumocytes. Lymphoid aggregates may be present. +new_value: Diffuse filling of the distal airspaces of the lungs, the alveoli, with + macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally + by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes + plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal + pneumocytes. Lymphoid aggregates may be present. +about_node: HP:0005942 + +--- +id: uuid:170b0397-c0d9-41aa-bc85-05fa6cf2930e +type: NodeTextDefinitionChange +old_value: An increased concentration of ethylmalonic acid in the urine. +new_value: The concentration of ethylmalonic acid in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0003219 + +--- +id: uuid:e8054883-8535-44ef-b3a5-81b47d42414c +type: NodeRename +old_value: Smooth muscle antibody positivity +new_value: Anti-smooth muscle antibody positivity +about_node: HP:0003262 + +--- +id: uuid:b7d956aa-2614-474f-9ba7-50e92d97efdd +type: NodeTextDefinitionChange +old_value: A sudden episode of intense fear in a situation in which there is no danger + or apparent cause. +new_value: A sudden episode of intense fear in a situation where there is no danger + or apparent cause. +about_node: HP:0025269 + +--- +id: uuid:66003eb6-dcaf-4d57-88e9-9f2342692efa +type: NodeRename +old_value: Risk taking +new_value: Risky behavior +about_node: HP:0031472 + +--- +id: uuid:6adbf3d8-6414-4b5c-907e-ea3381db9abe +type: NodeTextDefinitionChange +old_value: Engagement in dangerous, risky, and potentially self-damaging activities, + unnecessarily and without regard to consequences; lack of concern for one's limitations + and denial of the reality or personal danger. +new_value: Engaging in dangerous, risky, and potentially self-damaging activities, + without considering the consequences, is a sign of recklessness. It involves a disregard + for one's limitations and a denial of personal danger. +about_node: HP:0031472 + +--- +id: uuid:a26ee3d3-f19d-4445-b103-3efbd559c6a5 +type: NodeRename +old_value: Low levels of vitamin A +new_value: Reduced circulating vitamin A concentration +about_node: HP:0004905 + +--- +id: uuid:0d25bf8e-f9d2-4805-b554-7dcbb5d1b339 +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin A. +new_value: Concentration of vitamin A below the lower limit of normal in the blood + circulation. +about_node: HP:0004905 + +--- +id: uuid:2b9c80c7-f5e4-4d86-9538-3f3c80678d01 +type: NodeRename +old_value: Methylphenidate addiction +new_value: Addictive methylphenidate use +about_node: HP:0033518 + +--- +id: uuid:ff38cc93-4676-4a7f-a02d-5dd84834c4b4 +type: NodeTextDefinitionChange +old_value: An excessive, irrational and debilitating fear to carry out a physical + movement, due to a feeling of vulnerability to a painful injury or reinjury. +new_value: An excessive, irrational, and debilitating fear of carrying out a physical + movement due to a feeling of vulnerability to painful injury or reinjury. +about_node: HP:4000009 + +--- +id: uuid:02ce9502-8876-400d-be7c-39198009ef8b +type: NodeTextDefinitionChange +old_value: Uncontrolled episodes of crying, without apparent motivating stimuli. +new_value: Uncontrolled episodes of crying occur without any apparent motivating stimuli. +about_node: HP:0030215 + +--- +id: uuid:5a986295-14b8-4553-a94c-9cf66d87112b +type: NodeRename +old_value: Low levels of vitamin K +new_value: Decreased circulating vitamin K concentration +about_node: HP:0011892 + +--- +id: uuid:ae61b546-6153-4971-84fe-5ae68c2c001d +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin K. +new_value: The concentration of vitamin K in the blood circulation is below the lower + limit of normal. +about_node: HP:0011892 + +--- +id: uuid:4e103076-9fbd-47bb-bada-1123f3f26f87 +type: NodeRename +old_value: Elevated urinary norepinephrine +new_value: Elevated urinary norepinephrine level +about_node: HP:0003345 + +--- +id: uuid:475b0c52-d89c-4d98-979d-2491ca1320d4 +type: NodeTextDefinitionChange +old_value: An increased concentration of noradrenaline in the urine. +new_value: The concentration of noradrenaline in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0003345 + +--- +id: uuid:be2ddd99-687d-473c-9292-b4a8f522af94 +type: NodeTextDefinitionChange +old_value: The presence of an abscess of the liver. +new_value: A circumscribed area of pus or necrotic debris in the liver. +about_node: HP:0100523 + +--- +id: uuid:963b3f3e-10f9-4feb-8a71-68169d00033d +type: NodeTextDefinitionChange +old_value: A stable tendency to experience negative emotions, i.e., a disposition + to experience aversive emotional states. +new_value: A tendency to experience negative emotions, i.e., a disposition to experience + aversive emotional states. +about_node: HP:0031467 + +--- +id: uuid:419c2676-42be-46fe-bf0d-a1bf64ae581c +type: NodeTextDefinitionChange +old_value: A type of low sperm count where ejaculated semen contains less than 100,000 + spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero + sperm count in the ejaculate may be initially measured. If sperm are observed in + a second semen sample following centrifugation, the diagnosis of cryptozoospermia + can be made (and azoospermia can be ruled out). +new_value: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate + only after centrifugation and inspection of the pellet. +about_node: HP:0030974 + +--- +id: uuid:b0e8f93b-fa00-4cd1-88d2-5f9c530b63e5 +type: NodeTextDefinitionChange +old_value: An enduring pattern of uncooperative, defiant, and hostile behavior toward + authority figures that does not involve major antisocial violations, is not accounted + for by the child's developmental stage, and results in significant functional impairment. + A certain level of oppositional behavior is common in children and adolescents. +new_value: An enduring pattern of uncooperative, defiant, and hostile behavior towards + authority figures that does not involve major antisocial violations, is not accounted + for by the child's developmental stage, and results in significant functional impairment. + A certain level of oppositional behavior is common in children and adolescents. +about_node: HP:0010865 + +--- +id: uuid:240e7f4b-3a53-4b7b-92ed-0778ef982e26 +type: NodeTextDefinitionChange +old_value: Increased concentration of octenoylcarnitine in the blood circulation. +new_value: Concentration of octenoylcarnitine in the blood circulation above the upper + limit of normal. +about_node: HP:0033440 + +--- +id: uuid:538381a5-80ac-444b-b6ee-3940529741ec +type: NodeRename +old_value: Iris neovascularization +new_value: Rubeosis iridis +about_node: HP:0011497 + +--- +id: uuid:3f87e920-f58b-4277-a87e-eca32aebdb8e +type: NodeTextDefinitionChange +old_value: New growth of vessels on the surface of the iris. +new_value: Formation of new blood vessels on the iris. The new vessels do not display + the typical radially symmertic growth pattern of normal iris blood vessels, but + rather appear disorganized. Rubeosis usually starts from the pupillary border with + tiny tufts of dilated capillaries or red spots that can only be appreciated with + high magnification. +about_node: HP:0011497 + +--- +id: uuid:7b8196c2-fa48-4d1a-a36c-e4c3f5a03461 +type: NodeRename +old_value: Low levels of vitamin B8 +new_value: Decreased circulating vitamin B8 concentration +about_node: HP:0100506 + +--- +id: uuid:d3f9e6bd-307e-42de-854c-92f26922193a +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin B8. +new_value: The concentration of vitamin B8 in the blood circulation is below the lower + limit of normal. +about_node: HP:0100506 + +--- +id: uuid:ef86d3fe-4583-4a64-b8b5-0723ad4ca3df +type: NodeTextDefinitionChange +old_value: Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note + that cortical thickness cannot be measured reliably on scans done between 3 and + 24 months of age. +new_value: Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note + that cortical thickness cannot be measured reliably on scans done between 3 and + 24 months of age. +about_node: HP:0020192 + +--- +id: uuid:f3793b72-a687-4f27-94ed-a752e4bcb47f +type: NewTextDefinition +new_value: Excessive sleepiness or feeling of sleepiness, or difficulty staying awake + despite having had adequate sleep, which persists over several days. +about_node: HP:0100786 + +--- +id: uuid:15d251b0-7865-4dd7-8dfe-b8b742d310a8 +type: NodeTextDefinitionChange +old_value: Unstable emotional experiences and frequent mood changes; emotions that + are easily aroused, intense, and/or out of proportion to events and circumstances. +new_value: Unstable emotional experiences and frequent mood changes; emotions that + are easily aroused, intense, and/or disproportionate to events and circumstances. +about_node: HP:0000712 + +--- +id: uuid:e51185ad-698f-458e-b50d-c2cff2bd8b18 +type: NodeTextDefinitionChange +old_value: Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised + by, stored within and released from the hypothalamus. It stimulates the synthesis + and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. + Following administration of exogenous TRH, a transient increase in serum TSH is + expected. This term refers to an abnormal reponse in the TRH stimulation test. +new_value: Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized + by, stored within, and released from the hypothalamus. It stimulates the synthesis + and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. + Following administration of exogenous TRH, a transient increase in serum TSH is + expected. This term refers to an abnormal response in the TRH stimulation test. +about_node: HP:0033080 + +--- +id: uuid:45f08b55-ce13-448f-a29b-dc44eb267e43 +type: NodeTextDefinitionChange +old_value: A gap in the upper lip. This is a congenital defect resulting from nonfusion + of tissues of the lip during embryonal development. +new_value: A gap or groove in the upper lip. This is a congenital defect resulting + from nonfusion of tissues of the lip during embryonal development. +about_node: HP:0000204 + +--- +id: uuid:1cc34c70-20b4-42a8-911b-3399cb7ebecd +type: NodeTextDefinitionChange +old_value: Accumulation of amorphous PAS-positive material in the space betweem alveolar + macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar + proteinosis. +new_value: Accumulation of amorphous PAS-positive material in the space between alveolar + macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar + proteinosis. +about_node: HP:0006517 + +--- +id: uuid:0860d30d-74b9-4683-a510-0b2beaf7f11d +type: NodeTextDefinitionChange +old_value: Swelling of the hepatocyte, rounding of its contour, and alteration of + the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The + cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey + material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed + of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding + protein P62. +new_value: Swelling of the hepatocyte, rounding of its contour, and alteration of + the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The + cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey + material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed + of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding + protein P62. +about_node: HP:0033193 + +--- +id: uuid:7f90dd43-94e6-4f2d-ad69-46b46a10bea7 +type: NodeTextDefinitionChange +old_value: A deficit in emotional awareness characterized by difficulties in recognizing + and expressing feelings and emotions manifested as a limited ability to respond + to facial clues or other signs of emotions in others often accompanied by detached + connections to others. +new_value: A deficit in emotional awareness is characterized by difficulties in recognizing + and expressing feelings and emotions. This deficit manifests as a limited ability + to respond to facial cues or other signs of emotions in others, often accompanied + by detached connections to others. +about_node: HP:0031433 + +--- +id: uuid:744b4870-abb7-4db8-a4a5-dffc31980af2 +type: NodeTextDefinitionChange +old_value: A consistent failure to make any response to verbal cues. +new_value: A consistent failure to respond to any verbal cues. +about_node: HP:5200036 + +--- +id: uuid:df966727-4e8d-407f-8d57-13f3aad04795 +type: NodeTextDefinitionChange +old_value: An inability to move the body at sleep onset or upon awakening from sleep + lasting seconds to a few minutes. +new_value: An inability to move the body at the onset of sleep or upon awakening from + sleep, lasting for seconds to a few minutes. +about_node: HP:0025233 + +--- +id: uuid:d1415378-67db-45cf-a3ae-9852c50e0192 +type: NodeTextDefinitionChange +old_value: Excessive daytime sleepiness. +new_value: Abnormal feeling of sleepiness or difficulty staying awake. +about_node: HP:0002329 + +--- +id: uuid:4df6495f-d82f-46c2-8012-634616cac2f1 +type: NodeRename +old_value: Abnormality of the parathyroid morphology +new_value: Abnormal parathyroid morphology +about_node: HP:0011766 + +--- +id: uuid:48868a04-60b8-4d7b-9b46-2fe4a0a25ec3 +type: NewTextDefinition +new_value: Conduct and/or behavior, both verbal and non-verbal, including but not + limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, + and other disruptive behaviors in any form or through any medium, that cause or + have the potential to cause a reasonable person to fear physical harm from any individual(s) + or group(s) towards any person(s) or property. This is commonly defined as a violent + act characterized by the use of physical force, anger, or sudden intense activity. +about_node: HP:0008760 + +--- +id: uuid:a8eb1557-2bab-4e70-b481-1e3806f35d78 +type: NodeTextDefinitionChange +old_value: An increase in the level of 3-hydroxydicarboxylic acid in the urine. +new_value: The concentration of 2-hydroxydicarboxylic acid in the urine, normalized + for urine concentration, is above the upper limit of normal. +about_node: HP:0008160 + +--- +id: uuid:b2cd1441-f017-4027-8015-59d70a388ea1 +type: NodeRename +old_value: Abnormality of bone marrow cell morphology +new_value: Abnormal bone marrow cell morphology +about_node: HP:0005561 + +--- +id: uuid:0defeef0-d82c-4d03-bd9f-28e32a503de2 +type: NewTextDefinition +new_value: Recurrent episodes of severe hypersomnia are accompanied by cognitive and + behavioral disturbances, including confusion, derealization, apathy, compulsive + eating, and hypersexuality. +about_node: HP:0007200 + +--- +id: uuid:1f40142d-b45b-4ced-91e6-5818ecf6f0bb +type: NodeRename +old_value: Abnormality of permanent molar morphology +new_value: Abnormal permanent molar morphology +about_node: HP:0011071 + +--- +id: uuid:b6118032-c59a-48d5-847d-bca5bf2347a9 +type: NodeTextDefinitionChange +old_value: Frequent thinking about or preoccupation with killing oneself. +new_value: Frequent thoughts about or preoccupation with killing oneself. +about_node: HP:0031589 + +--- +id: uuid:887c3177-0f63-4dca-a009-93e2e11a7128 +type: NodeTextDefinitionChange +old_value: Cleft hard palate in which the cleft doe not goes through the entire length + of the hard palate. +new_value: Cleft hard palate in which the cleft does not go through the entire length + of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior + border of the soft palate. +about_node: HP:5201004 + +--- +id: uuid:4451be93-55a4-4415-ad36-b920555f5dd8 +type: NodeRename +old_value: Low levels of vitamin B1 +new_value: Decreased circulating vitamin B1 concentration +about_node: HP:0100503 + +--- +id: uuid:b30beec7-4292-47a1-8b7d-1889004b3708 +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin B1. +new_value: The concentration of vitamin B1 in the blood circulation is below the lower + limit of normal. +about_node: HP:0100503 + +--- +id: uuid:fbf4d31c-4ea5-406a-8caa-b9f145f4826f +type: NodeTextDefinitionChange +old_value: Spontaneous detachment of a foot from the body. +new_value: The spontaneous detachment of a foot from the body due to long standing + pathology. +about_node: HP:0001868 + +--- +id: uuid:fdd4350b-f560-41c5-982d-1f86d087ca71 +type: NodeRename +old_value: Abnormality of the thymus +new_value: Abnormal thymus morphology +about_node: HP:0000777 + +--- +id: uuid:4a316491-8043-48a1-a29d-8d6fca69fe91 +type: NodeTextDefinitionChange +old_value: A personality disorder characterized by impulsive behavior and unpredictable + and capricious mood. Affected individuals show a liability to outbursts of emotion + and an incapacity to control the behavioural explosions. +new_value: A personality disorder characterized by impulsive behavior and unpredictable, + capricious mood. Affected individuals show a tendency to have outbursts of emotion + and an inability to control these behavioral explosions. They generally experience + an intense fear of abandonment or instability and also struggle with feelings of + emptiness. +about_node: HP:0012076 + +--- +id: uuid:6f717e72-e3a7-4724-a39a-486f7d58982d +type: NodeTextDefinitionChange +old_value: A decrease in the level of erythritol in the cerebrospinal fluid. +new_value: Concentration of erythritol in the cerebrospinal fluid below the lower + limit of normal. +about_node: HP:0410056 + +--- +id: uuid:0987e278-7324-4acf-a9e6-79da36722c2d +type: NodeTextDefinitionChange +old_value: A state of unease characterized by diffuse motor activity or motion, subject + to limited control, nonproductive, or disorganized behavior. +new_value: A state of unease is characterized by diffuse motor activity or motion, + which is subject to limited control, nonproductive, or disorganized behavior. +about_node: HP:0000711 + +--- +id: uuid:586d1bf9-7f3c-4d86-bda7-a370d6147d28 +type: NodeRename +old_value: Morphological abnormality of the semicircular canal +new_value: Abnormal semicircular canal morphology +about_node: HP:0011380 + +--- +id: uuid:c87d27cd-64f9-4175-82c6-cea92de17441 +type: NodeTextDefinitionChange +old_value: A nocturnal episode characterized by disorientation, grogginess, and, at + times, substantial agitation upon awakening from slow-wave sleep or following forced + awakenings. These characteristics might present as agitation, crying or moaning, + disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep + inertia). The duration of episodes is typically 5 to 15 min but they might last + up to several hours. +new_value: A nocturnal episode is characterized by disorientation, grogginess, and, + at times, significant agitation upon awakening from slow-wave sleep or following + forced awakenings. +about_node: HP:0025237 + +--- +id: uuid:8ae002d3-4c5f-4220-8e61-34f85a6fe741 +type: NodeRename +old_value: Generalized joint laxity +new_value: Generalized joint hypermobility +about_node: HP:0002761 + +--- +id: uuid:6d23470a-f741-468a-9d9b-d16e8302a061 +type: NodeTextDefinitionChange +old_value: Joint hypermobility (ability of a joint to move beyond its normal range + of motion) affecting many or all joints of the body. +new_value: Joint hypermobility (ability of a joint to move beyond its normal range + of motion) affecting many or all joints of the body. In individuals with Joint hypermobility + at multiple sites (usually five or more), the term generalized joint hypermobility + is preferred. +about_node: HP:0002761 + +--- +id: uuid:f2595bb6-1bfd-4a93-848f-7434420b7795 +type: NodeRename +old_value: Exacerbated by contraceptive medication +new_value: Exacerbated by contraceptive medication exposure +about_node: HP:0032501 + +--- +id: uuid:2e525140-525b-42cf-8299-be79e4d95f38 +type: NodeTextDefinitionChange +old_value: An abnormally increased number of band cells in the peripheral blood circulation. + Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped + nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday + granules, and a nucleus:cytoplasm ratio of 1:2. +new_value: The number of band cells in the peripheral blood circulation is above the + upper limit of normal. Band cells are immature neutrophils with a size of 10-18 + micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm + with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2. +about_node: HP:0032239 + +--- +id: uuid:1cdff3a3-0af1-4d82-aaef-fce2ba9abffe +type: NodeRename +old_value: Cerebral cortex swollen achromatic neurons +new_value: Swollen achromatic neurons in the cerebral cortex +about_node: HP:0034717 + +--- +id: uuid:3af7928e-5561-4dcd-b05a-472e351a15a7 +type: NodeRename +old_value: Elevated urinary dopamine +new_value: Elevated urinary dopamine level +about_node: HP:0011979 + +--- +id: uuid:7c2609c1-18c5-4418-a6c5-7dbed4fe87c0 +type: NodeTextDefinitionChange +old_value: An increased concentration of dopamine in the urine. +new_value: The concentration of dopamine in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0011979 + +--- +id: uuid:be1f0cbd-81d2-41df-9c8a-40c608ed48d3 +type: NewTextDefinition +new_value: Loss of alertness and orientation to place and time. +about_node: HP:0007185 + +--- +id: uuid:301390ec-d5c6-450d-9ef2-f531b2eb9b0a +type: NodeRename +old_value: Abnormality of neutrophil morphology +new_value: Abnormal neutrophil morphology +about_node: HP:0011992 + +--- +id: uuid:adaa8aaf-7f85-4b74-9f4d-5cfdfb5b6ce9 +type: NodeRename +old_value: Abnormality of intestinal smooth muscle morphology +new_value: Abnormal intestinal smooth muscle morphology +about_node: HP:0030935 + +--- +id: uuid:3a11f99b-7591-41e3-bb9f-fcb486a6c130 +type: NodeRename +old_value: Abnormality of vitamin E metabolism +new_value: Abnormal circulating vitamin E concentration +about_node: HP:0100514 + +--- +id: uuid:970c4f1e-c0f5-4a0e-8433-f74fb35c03fe +type: NewTextDefinition +new_value: Concentration of vitamin E in the blood circulation outside of normal limits. +about_node: HP:0100514 + +--- +id: uuid:76ed3f05-ffa1-4ea4-bf7b-12cc963ef751 +type: NodeTextDefinitionChange +old_value: A condition characterized by changes of personality and thought patterns + often accompanied by hallucinations and delusional beliefs. +new_value: A condition characterized by changes in personality and thought patterns, + often accompanied by hallucinations and delusional beliefs, is known as psychosis. +about_node: HP:0000709 + +--- +id: uuid:ef05a28e-a658-4fe0-9c6c-7c0c1a91877e +type: NodeTextDefinitionChange +old_value: Inflammation of arcuate veins of the kidney, which may involve only the + intima or can be transmural. +new_value: Inflammation of the inner or middle layer of arcuate venules. This feature + may involve only the intima or it can be transmural. +about_node: HP:0033917 + +--- +id: uuid:e5e624ae-0e3c-4cdd-a4b5-01dd5ec9f131 +type: NodeTextDefinitionChange +old_value: An abnormally increased concentration of 3-methyl-2-oxovaleric acid in + the blood circulation. +new_value: The concentration of 3-methyl-2-oxovaleric acidin the blood circulation + is above the upper limit of normal. +about_node: HP:0033436 + +--- +id: uuid:ad9d326d-7391-421a-84f6-0446f434429b +type: NodeTextDefinitionChange +old_value: A reduction in goal-directed behavior, that is, motivation, the determinant + of behavior and adaptation that allows individuals to get started, be energized + to perform a sustained and directed action. +new_value: A reduction in goal-directed behavior, that is, motivation, is the determinant + of behavior and adaptation that allows individuals to get started, be energized + to perform a sustained and directed action. +about_node: HP:0000745 + +--- +id: uuid:c12fd5b5-9e57-480c-a8e5-52d55b629fe4 +type: NodeRename +old_value: Abnormality of tibia morphology +new_value: Abnormal tibia morphology +about_node: HP:0002992 + +--- +id: uuid:ad1676ee-abf0-43ce-beb8-bdd27072fbf7 +type: NodeTextDefinitionChange +old_value: Diffuse alveolar damage (DAD) describes a comon histologic injury pattern + of the lung. The early stages are characterized by epithelial cell necrosis and + sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and + proteins, filling the alveoli. This results in impaired gas exchange. In later stages, + type II cells and myofibroblasts proliferate within the interstitium and airspaces. + The corresponding clinical entity is acute respiratory distress syndrome (ARDS). + DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe + viral infections, acute interstial pneumonitis and crack cocaine inhalation. +new_value: Diffuse alveolar damage (DAD) describes a common histologic injury pattern + of the lung. The early stages are characterized by epithelial cell necrosis and + sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and + proteins, filling the alveoli. This results in impaired gas exchange. In later stages, + type II cells and myofibroblasts proliferate within the interstitium and airspaces. + The corresponding clinical entity is acute respiratory distress syndrome (ARDS). + DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe + viral infections, acute interstial pneumonitis, and crack cocaine inhalation. +about_node: HP:0033006 + +--- +id: uuid:68cd4cc4-6ee4-4ff4-826b-0c33992d86cd +type: NodeRename +old_value: Increased level of xylitol in CSF +new_value: Increased CSF xylitol concentration +about_node: HP:0410075 + +--- +id: uuid:1e5cadc1-d361-4797-9021-3422fc7e6c6f +type: NodeTextDefinitionChange +old_value: An increase in the level of xylitol in the cerebrospinal fluid. +new_value: The concentration of xylitol in the cerebrospinal fluid is above the upper + limit of normal. +about_node: HP:0410075 + +--- +id: uuid:d4ca6c17-89b9-4d16-82db-871f5b300c4b +type: NodeTextDefinitionChange +old_value: Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), + a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial + beta-oxidation of fatty acids. +new_value: Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), + a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial + beta-oxidation of fatty acids. +about_node: HP:0034690 + +--- +id: uuid:1c61a6d0-3d25-4e42-b0a3-80147f840597 +type: NodeTextDefinitionChange +old_value: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) wich occurs at multiple sites. +new_value: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical + motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary + single or multiple contraction of muscles or muscle groups of variable topography + (axial, proximal limb, distal) that occurs at multiple sites. +about_node: HP:0032816 + +--- +id: uuid:bda49f2c-47a8-443d-82d0-fb2bb5a6055d +type: NodeRename +old_value: Abnormality of small intestinal villus morphology +new_value: Abnormal small intestinal villus morphology +about_node: HP:0011472 + +--- +id: uuid:3c86bb2a-6f6f-4b09-a999-421571c28dfd +type: NodeTextDefinitionChange +old_value: 'Seizures induced by thinking and decision-making.\ncomment:' +new_value: 'Seizures induced by thinking and decision-making. comment:' +about_node: HP:0020215 + +--- +id: uuid:570eabd4-e703-4855-8b97-ad3ab0208114 +type: NodeTextDefinitionChange +old_value: A state of disinterestedness, listlessness, and indifference, resulting + in difficulty performing simple tasks or concentrating. +new_value: A state of disinterest, listlessness, and indifference, resulting in difficulty + performing simple tasks or concentrating. +about_node: HP:0001254 + +--- +id: uuid:94fc0188-abd6-4fc3-bf3b-9adde2975373 +type: NodeTextDefinitionChange +old_value: The presence of autoantibodies (immunoglobulins) in the blood circulation + that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds + to MHC class II (DP, DM, DO, DQ, and DR). +new_value: The presence of autoantibodies (immunoglobulins) in the blood circulation + that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds + to MHC class II (DP, DM, DO, DQ, and DR). +about_node: HP:0034018 + +--- +id: uuid:32644fe6-2e08-40ae-92cc-deebfa1ac91f +type: NodeRename +old_value: Abnormality of immune serum protein physiology +new_value: Abnormal immune serum protein physiology +about_node: HP:0011111 + +--- +id: uuid:51a28436-4773-4744-91e9-8e46835d4ac9 +type: NodeRename +old_value: Aggression toward others +new_value: Aggression towards others +about_node: HP:5200125 + +--- +id: uuid:638a6fab-0185-441b-8c1f-308def2c22b9 +type: NewTextDefinition +new_value: Aggression that is directed towards other individuals, as opposed to oneself. +about_node: HP:5200125 + +--- +id: uuid:de117812-64fe-4148-ac16-6201b8947daa +type: NodeRename +old_value: Aggravated by sodium channel blocking agents +new_value: Exacerbated by sodium channel blocking agent exposure +about_node: HP:4000127 + +--- +id: uuid:28931240-b018-45da-9081-29c0f05c4d34 +type: NodeTextDefinitionChange +old_value: "Malignant hyperthermia that is characterized by exercise-induced life-threatening\ + \ hyperthermia with a body temperature over 40\xB0C and signs of encephalopathy\ + \ ranging from confusion to convulsions or coma. Incidence increases with rising\ + \ ambient temperature and relative humidity. Manifestations may include rhabdomyolysis\ + \ (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and\ + \ in severe cases multiorgan failure." +new_value: Malignant hyperthermia that is characterized by exercise-induced life-threatening + hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy + ranging from confusion to convulsions or coma. Incidence increases with rising ambient + temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting + with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases + multiorgan failure. +about_node: HP:0034732 + +--- +id: uuid:0222c003-9e9e-4204-b8cb-e97fe9c15779 +type: NodeRename +old_value: Abnormality of the posterior pituitary +new_value: Abnormal posterior pituitary morphogenesis +about_node: HP:0011751 + +--- +id: uuid:edda71af-e3ad-4839-a1ee-4e4594bf8085 +type: NodeTextDefinitionChange +old_value: Any of the various types of human blood whose antigen characteristics determine + compatibility in transfusion. While the ABO and Rhesus sytems are the most well + known, there are in total about 300 different blood type antigens distributed across + 34 different blood type systems. +new_value: Any of the various types of human blood whose antigen characteristics determine + compatibility in transfusion. While the ABO and Rhesus systems are the most well + known, there are in total about 300 different blood type antigens distributed across + 34 different blood type systems. +about_node: HP:0032223 + +--- +id: uuid:2b5ce05e-a140-4bdc-9d4f-5198e6ead78f +type: NodeTextDefinitionChange +old_value: Abnormally small sized handwriting defined formally as an impairment of + a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude + during a writing task. +new_value: Abnormally small-sized handwriting is formally defined as an impairment + of fine motor skills, which mainly manifests as a progressive or stable reduction + in amplitude during a writing task. +about_node: HP:0031908 + +--- +id: uuid:bb05b688-c27d-48b0-9651-13772da1bef1 +type: NodeRename +old_value: Abnormality of male external genitalia +new_value: Abnormal male external genitalia morphology +about_node: HP:0000032 + +--- +id: uuid:1892dfb0-51c1-4be6-abb3-9c742fe78310 +type: NodeTextDefinitionChange +old_value: An abnormality of male external genitalia. +new_value: Any structural abnormality of male external genitalia. +about_node: HP:0000032 + +--- +id: uuid:6419ff12-9cca-403f-92ca-a767db231d34 +type: NodeTextDefinitionChange +old_value: An increase in the level of methylsuccinic acid in the urine. +new_value: The concentration of methylsuccinic acid in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0410153 + +--- +id: uuid:c28207ad-aef5-40f7-a5e8-37aa6f4bb42c +type: NodeTextDefinitionChange +old_value: An inflammed lymph node that is filled with pus. +new_value: An inflamed lymph node that is filled with pus. +about_node: HP:0033136 + +--- +id: uuid:e2f1e848-de17-4e1d-aac6-24569fde0f25 +type: NodeRename +old_value: Aggravated by phenytoin +new_value: Exacerbated by phenytoin exposure +about_node: HP:4000132 + +--- +id: uuid:4c56921f-f4cb-48aa-ac71-4805d800f608 +type: NodeTextDefinitionChange +old_value: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions + with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus + (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than + proximal tubules. Occasionally glomerular visceral and parietal epithelial cells + can be infected. There is associated acute tubular injury, often with frank tubular + necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic + infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof + neutrophils, with interstitial edema and hemorrhage. +new_value: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions + with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus + (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than + proximal tubules. Occasionally glomerular visceral and parietal epithelial cells + can be infected. There is associated acute tubular injury, often with frank tubular + necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic + infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers + of neutrophils, with interstitial edema and hemorrhage. +about_node: HP:0032954 + +--- +id: uuid:f8ad3d8f-74b6-4c66-bf7b-cd7f5c900d68 +type: NodeRename +old_value: Non-midline cleft lip +new_value: Non-midline cleft of the upper lip +about_node: HP:0100335 + +--- +id: uuid:8baec6d9-3875-4198-8fdf-a8f62c5188bd +type: NodeTextDefinitionChange +old_value: Clefting of the upper lip affecting the lateral portions of the upper lip + rather than the midline/median region. +new_value: Clefting (gap or groove) of the upper lip affecting the lateral portions + of the upper lip rather than the midline/median region. +about_node: HP:0100335 + +--- +id: uuid:4b7782bb-70ae-440f-9fcb-89ada27e9f38 +type: NodeRename +old_value: Manifestations of perseverative thought or action +new_value: Perseverative thought +about_node: HP:0030223 + +--- +id: uuid:7170e14c-b416-49dc-8936-2ddb62ca195f +type: NodeRename +old_value: Aggression toward non caregivers +new_value: Aggression toward non-caregivers +about_node: HP:5200127 + +--- +id: uuid:5714b934-ab1c-478a-bc50-f385880a8952 +type: NewTextDefinition +new_value: Aggression that is directed towards non-caregivers. +about_node: HP:5200127 + +--- +id: uuid:75499471-31ae-4432-87b0-11d826d01151 +type: NodeRename +old_value: Elevated alpha-L-fucosidase activity +new_value: Elevated circulating alpha-L-fucosidase activity +about_node: HP:0034729 + +--- +id: uuid:9f5bd5c3-ba29-4e0f-bdf7-4b483b912ac8 +type: NodeRename +old_value: Decreased level of carnosine in blood +new_value: Decreased circulating carnosine concentration +about_node: HP:0500162 + +--- +id: uuid:cf8f64f1-6baa-4bd6-9899-f954405f11fd +type: NodeRename +old_value: Abnormal beta-mannosidase activity +new_value: Abnormal circulating beta-mannosidase activity +about_node: HP:0034725 + +--- +id: uuid:abe82e9d-df12-46f6-b27b-8764fd53907b +type: NodeTextDefinitionChange +old_value: A reduced interest in all people including both peers and non-peers. +new_value: There is a diminished interest in all individuals, including both peers + and non-peers. +about_node: HP:5200004 + +--- +id: uuid:dc4ba798-2f04-4a77-b759-83624087c99b +type: NodeTextDefinitionChange +old_value: A conspicuously happy disposition with frequent smiling and laughing that + may be context-inappropriate or unrelated to context. +new_value: A conspicuously happy disposition, characterized by frequent smiling and + laughing, which may be contextually inappropriate or unrelated to the situation. +about_node: HP:0040082 + +--- +id: uuid:79cdc3f5-d2cd-4559-8844-7dc82ae80f66 +type: NodeTextDefinitionChange +old_value: Persistent or frequent angry feelings; anger or irritability in response + to minor slights and insults. +new_value: Persistent or frequent feelings of anger; anger or irritability in response + to minor slights and insults. +about_node: HP:0031473 + +--- +id: uuid:987b3b4c-5963-430c-a122-15439ca7d2a0 +type: NodeTextDefinitionChange +old_value: An organized collection of histiocytes (specifically macrophages) localized + in the interstitial tissue of the kidney. Through light microscopy, the activated + histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular + contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. + They may also coalesce to form multinucleated giant cells. Granulomas may be associated + with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. + Organization can range from poorly-to-well defined. Granulomas can present as necrotizing + or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central + necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. +new_value: An organized collection of histiocytes (specifically macrophages) localized + in the interstitial tissue of the kidney. Through light microscopy, the activated + histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular + contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. + They may also coalesce to form multinucleated giant cells. Granulomas may be associated + with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. + Organization can range from poorly-to-well defined. Granulomas can present as necrotizing + or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central + necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. +about_node: HP:0032642 + +--- +id: uuid:0715ac4a-561b-4e6a-9af1-85a751cec4e6 +type: NodeTextDefinitionChange +old_value: Amount of 3-hydroxyglutaric acid in urine above the upper limit of normal. +new_value: The concentration of 3-hydroxyglutaric acid in the urine, normalized for + urine concentration, is above the upper limit of normal. +about_node: HP:0034656 + +--- +id: uuid:143cf8c5-bc82-4861-8c1e-39a70acb123d +type: NodeRename +old_value: Decreased alpha-mannosidase activity +new_value: Decreased circulating alpha-mannosidase activity +about_node: HP:0034712 + +--- +id: uuid:75e88e90-3a51-41e2-b3bb-87067a73a028 +type: NodeTextDefinitionChange +old_value: Activity of the enzyme alpha-mannosidase below the lower limit of normal. +new_value: Concentration or activity of alpha mannosidase below the lower limit of + normal in the blood circulation. +about_node: HP:0034712 + +--- +id: uuid:328d987e-31e1-4fcd-a6d6-a94c8907e4f7 +type: NodeTextDefinitionChange +old_value: An excessive desire to eat salt (sodium chloride) or salty foods. +new_value: Hypersalivation, also known as salt craving, refers to an excessive desire + to consume salt (sodium chloride) or salty foods. +about_node: HP:0030083 + +--- +id: uuid:8985bf1b-06e5-478a-ae41-a56014963065 +type: NodeRename +old_value: Abnormality of the seventh cranial nerve +new_value: Abnormal seventh cranial physiology +about_node: HP:0010827 + +--- +id: uuid:fde88687-67ed-4e2c-b748-040dd429aeb1 +type: NodeTextDefinitionChange +old_value: Amount of glutaconic acid in the urine above the upper limit of normal. +new_value: The concentration of glutaconic acid in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0034655 + +--- +id: uuid:25d62001-546c-421f-8e19-7fd24aaac49f +type: NodeTextDefinitionChange +old_value: Increased circulating concentration of dehydroepiandrosterone-sulfate, + a precursor of testosterone and estrogen. +new_value: Concentration of dehydroepiandrosterone-sulfate in the blood circulation + above the upper limit of normal. +about_node: HP:0034589 + +--- +id: uuid:799a623e-813f-42ca-9cd1-65a0d7e7ae97 +type: NodeRename +old_value: Elevated urinary catecholamines +new_value: Elevated urinary catecholamine level +about_node: HP:0011976 + +--- +id: uuid:f51d7d1a-66e9-4dfd-9df4-c5a531e3a07f +type: NodeTextDefinitionChange +old_value: An increased concentration of catecholamine in the urine. +new_value: The concentration of a catecholamine in the urine, normalized for urine + concentration, is above the upper limit of normal. +about_node: HP:0011976 + +--- +id: uuid:073ff320-62eb-445a-be99-96abec786d05 +type: NodeRename +old_value: Reduced alpha-L-fucosidase activity +new_value: Reduced circulating alpha-L-fucosidase activity +about_node: HP:0034727 + +--- +id: uuid:9f3442f0-eb34-4258-b50b-1444a1aa5f80 +type: NodeRename +old_value: Heroin addiction +new_value: Addictive heroin use +about_node: HP:0033517 + +--- +id: uuid:56b01288-d4ec-4327-9e96-a07ada45c08b +type: NodeTextDefinitionChange +old_value: An increased concentration of aconitic acid in the blood circulation. +new_value: Concentration of aconitic acid in the blood circulation above the upper + limit of normal. +about_node: HP:0033179 + +--- +id: uuid:277435f4-4a24-485e-bc21-8d501383e905 +type: NodeTextDefinitionChange +old_value: A increased concentration of alpha-aminoadipic acid in the urine. +new_value: The concentration of alpha-aminoadipic acid in the urine, normalized for + urine concentration, is above the upper limit of normal. +about_node: HP:0410309 + +--- +id: uuid:c249da06-e4e5-4c3c-b273-4d98587307f2 +type: NewTextDefinition +new_value: Inability to speak or communicate verbally past the age of typical language + development. +about_node: HP:0002300 + +--- +id: uuid:2d73c42a-bf2c-4bf6-aa04-a864c76d2cad +type: NodeTextDefinitionChange +old_value: 'A cutaneous wound is a defined as a disruption of normal anatomic structure + and function of the skin that occured owing to an injury of the skin. Wound healing + is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, + and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, + and tissue remodeling, that overlap in time.' +new_value: 'A cutaneous wound is a defined as a disruption of normal anatomic structure + and function of the skin that occurs owing to an injury of the skin. Wound healing + is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, + and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, + and tissue remodeling, that overlap in time.' +about_node: HP:0032674 + +--- +id: uuid:eafe9cbb-d113-4ac4-be03-eb111b0d148b +type: NodeRename +old_value: Portal artery hyperplasia +new_value: Hepatic artery hyperplasia +about_node: HP:4000148 + +--- +id: uuid:90c7b497-68ae-4ee2-b2b7-365cea10e0a8 +type: NodeTextDefinitionChange +old_value: Abnormal increase in size of the portal arteries of the liver. +new_value: Abnormal increase in size of the hepatic arteries. +about_node: HP:4000148 + +--- +id: uuid:1a621606-e5ec-4a8b-9e4a-83f58e08ad4b +type: NodeTextDefinitionChange +old_value: Return of lavage fluid with a milky apperance due to the accumulation of + a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar + space. +new_value: Return of lavage fluid with a milky appearance due to the accumulation + of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar + space. +about_node: HP:0033173 + +--- +id: uuid:beb4cf2f-7bfc-4493-a976-931185ff2667 +type: NodeRename +old_value: Abnormal emotion/affect behavior +new_value: Abnormal emotion +about_node: HP:0100851 + +--- +id: uuid:c8ee2688-f7f3-4f74-9c1f-c8a6bc399ac1 +type: NodeTextDefinitionChange +old_value: An abnormality of emotional behaviour. +new_value: Abnormalities in the intensity, frequency, or duration of emotional experiences. +about_node: HP:0100851 + +--- +id: uuid:d6d48289-5714-4a0d-bfca-f1f40cb5219d +type: NodeRename +old_value: Abnormality of enteric nervous system morphology +new_value: Abnormal enteric nervous system morphology +about_node: HP:0025028 + +--- +id: uuid:cc5f7edb-30f2-4c2f-b929-258050111435 +type: NodeTextDefinitionChange +old_value: Acting on the spur of the moment in response to immediate stimuli; acting + on a momentary basis without a plan or consideration of outcomes; difficulty establishing + or following plans; a sense of urgency and self-harming behavior under emotional + distress. +new_value: Acting on the spur of the moment in response to immediate stimuli; acting + on a momentary basis without a plan or consideration of outcomes; having difficulty + establishing or following plans; experiencing a sense of urgency and engaging in + self-harming behavior when under emotional distress. +about_node: HP:0100710 + +--- +id: uuid:13aafcf7-3daa-4c58-8ec3-845b6e57b570 +type: NodeTextDefinitionChange +old_value: An abnormally increased concentration in the blood circulation of acylcarnitine, + which is produced by reversible esterification of the 3-hydroxyl group of carnitine. +new_value: Concentration of acylcarnitine in the blood circulation above the upper + limit of normal. +about_node: HP:0045045 + +--- +id: uuid:cab05b7c-9738-4615-812d-d5e92de8b3ac +type: NodeTextDefinitionChange +old_value: A congenital subcutaneous cyst that arises from entrapment of skin along + the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend + to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine + glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous + nodules. They are often located on the head and neck, and rarely in the anogenital + area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm. +new_value: A congenital subcutaneous cyst that arises from entrapment of skin along + the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend + to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine + glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous + nodules. They are often located on the head and neck, and rarely in the anogenital + area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. +about_node: HP:0025247 + +--- +id: uuid:3f308ddb-c41f-433b-aabd-ef890d9197c5 +type: NodeRename +old_value: Amphetamine addiction +new_value: Addictive amphetamine use +about_node: HP:0033514 + +--- +id: uuid:61339077-1215-4e90-ab89-3b078bce79ed +type: NodeTextDefinitionChange +old_value: Addiction to amphetamine or dextroamphetamine. +new_value: Addiction to amphetamine or dextroamphetamine is a serious concern. +about_node: HP:0033514 + +--- +id: uuid:4170507a-78b9-476a-869d-57173cfedb50 +type: NodeRename +old_value: Methamphetamine addiction +new_value: Addictive methamphetamine use +about_node: HP:0033519 + +--- +id: uuid:c0cfc516-584d-4261-bf68-eeab566ca692 +type: NodeRename +old_value: Nicotine addiction +new_value: Addictive nicotine use +about_node: HP:0033543 + +--- +id: uuid:b51f518a-4799-43f2-a05c-6f0a880b3051 +type: NodeTextDefinitionChange +old_value: Nicotine addition can be defined as chronic compulsive nicotine seeking + and continued use despite harmful consequences. +new_value: Nicotine addiction can be defined as a chronic, compulsive craving for + nicotine and continued usage despite harmful consequences. +about_node: HP:0033543 + +--- +id: uuid:4087e8b2-ecb8-4593-b3fa-2ffce362b48d +type: NodeTextDefinitionChange +old_value: A broad range of compulsive behaviors that are repeated including simple + motor stereotypies and tics as well as more complex repetitive movements or compulsions. +new_value: A broad range of compulsive behaviors are repeated, including simple motor + stereotypies and tics, as well as more complex repetitive movements or compulsions. +about_node: HP:0031432 + +--- +id: uuid:5f5e61d9-5cd6-4f8d-b80f-528a477c2df2 +type: NodeRename +old_value: Abnormality of skin adnexa morphology +new_value: Abnormal skin adnexa morphology +about_node: HP:0011138 + +--- +id: uuid:c1555f1f-45e0-4e3b-89d4-203ceb5044a4 +type: NodeTextDefinitionChange +old_value: A focal motor seizure with negative myoclonus characterized by impairement + of awareness at some point during the seizure. +new_value: A focal motor seizure with negative myoclonus characterized by impairment + of awareness at some point during the seizure. +about_node: HP:0032858 + +--- +id: uuid:a18cee47-64e4-43f1-8e10-b099867a02c3 +type: NodeTextDefinitionChange +old_value: An abnormally increased concentration of 4-Hydroxyphenylacetic acid in + the blood circulation. +new_value: The concentration of 4-Hydroxyphenylacetic acid in the blood circulation + is above the upper limit of normal. +about_node: HP:0033302 + +--- +id: uuid:e894edca-2208-4153-aafb-040968b4d98d +type: NodeRename +old_value: Abnormal circulating acetylcarnitine concentration +new_value: Abnormal circulating acylcarnitine concentration +about_node: HP:0012071 + +--- +id: uuid:5ce65cc2-d619-4dd7-9604-7113e61f4287 +type: NodeTextDefinitionChange +old_value: Any deviation from the normal concentration in the blood circulation of + acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl + group of carnitine. +new_value: Any deviation from the normal concentration in the blood circulation of + an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl + group of carnitine. +about_node: HP:0012071 + +--- +id: uuid:d6d66383-c76e-4ba1-b23e-0d9c50ed7e96 +type: NodeTextDefinitionChange +old_value: Level of formiminoglutamic acid in urine above the upper limit of normal. +new_value: The concentration of formiminoglutamic acid in the urine, normalized for + urine concentration, is above the upper limit of normal. +about_node: HP:0034742 + +--- +id: uuid:cb1b470d-c9ad-4b31-a21a-c19d05bcdbcf +type: NodeTextDefinitionChange +old_value: An abnormal increase in the concentrationl of small fucosylated oligosaccharides + in the urine. +new_value: An abnormal increase in the concentration of small fucosylated oligosaccharides + in the urine. +about_node: HP:0410350 + +--- +id: uuid:5596a428-513e-49d4-b4b6-2b6b35ea5dd7 +type: NodeTextDefinitionChange +old_value: An increased concentration of guanidinoacetic acid in the blood circulation. +new_value: Concentration of guanidinoacetic acid in the blood circulation is above + the upper limit of normal. +about_node: HP:0034321 + +--- +id: uuid:3088d894-2a7b-4672-95fc-9c7045ed3c45 +type: NewTextDefinition +new_value: A defect of development of the brain characterized by congenital absence + of the part of the brain that includes the olfactory bulbs, tracts, and other structures + associated with the sense of smell. +about_node: HP:0002139 + +--- +id: uuid:42b49707-c0bf-407e-abda-cf0b6ef6b616 +type: NodeTextDefinitionChange +old_value: Abnormal retention of gas within a lung or part of a lung, as a result + of airway obstuction of abnormalities in lung compliance. In the classic presentation, + the lung will appear normal at inspiration, but on exhalation, the diseased portions + of the lung which have lost connective tissue recoil will remain lucent while the + healthy portions of the lung will become more dense due to atelectasis. This helps + distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific + interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark + imaging diagnosis of interstitial lung disease) in which there is no change with + inspiration and expiration. +new_value: Abnormal retention of gas within a lung or part of a lung, as a result + of airway obstruction of abnormalities in lung compliance. In the classic presentation, + the lung will appear normal at inspiration, but on exhalation, the diseased portions + of the lung which have lost connective tissue recoil will remain lucent while the + healthy portions of the lung will become more dense due to atelectasis. This helps + distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific + interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark + imaging diagnosis of interstitial lung disease) in which there is no change with + inspiration and expiration. +about_node: HP:0032968 + +--- +id: uuid:72babfb1-02e3-4326-9dd2-67b1212ad2e4 +type: NodeRename +old_value: Abnormality of the musculature of the thigh +new_value: Abnormality thigh musculature morphology +about_node: HP:0001441 + +--- +id: uuid:529bd267-7703-44ec-a7f3-97255683adda +type: NodeRename +old_value: Abnormality of enteric neuron morphology +new_value: Abnormal enteric neuron morphology +about_node: HP:0025029 + +--- +id: uuid:ee850f29-806c-49ef-b756-3bba582db6bb +type: NodeTextDefinitionChange +old_value: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awarness, occurring at both + sides of the body symmetrically. +new_value: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal + electro-clinical seizure where the electrographic event is correlated with a coordinated + motor activity, typically oral, usually with impaired awareness, occurring at both + sides of the body symmetrically. +about_node: HP:0032835 + +--- +id: uuid:d2ac7789-e7b3-4eaf-afb9-44bf59ad4805 +type: NodeRename +old_value: Synovial hypertrophy +new_value: Synovial lining hyperplasia +about_node: HP:0005186 + +--- +id: uuid:cf20b6bf-5bcf-4150-bc3b-bc2d00ab39d2 +type: NewTextDefinition +new_value: Synovial hyperplasia involves proliferation of mesenchymal stromal/stem + cells and leads to synovial thickening, which can be observed radiographically. +about_node: HP:0005186 + +--- +id: uuid:8520de8a-f4de-48e3-ac4a-426bef28ed21 +type: NodeRename +old_value: Auditory hallucinations +new_value: Auditory hallucination +about_node: HP:0008765 + +--- +id: uuid:67981993-1b1b-4537-980f-bfc585bb04c8 +type: NodeTextDefinitionChange +old_value: The false perception of sound. +new_value: Perception of sounds without auditory stimulus. +about_node: HP:0008765 + +--- +id: uuid:0b5b32af-e331-4b48-8b30-95540bacb55c +type: NodeTextDefinitionChange +old_value: Abnormality in one's ability to control their attention toward a specific + subject or task. This could include the inability to change attention or hold attention. +new_value: An abnormality in one's ability to control their attention towards a specific + subject or task can include difficulties in changing or maintaining attention. +about_node: HP:5200044 + +--- +id: uuid:7211054e-ab59-4ecf-9ae6-d2e413ee1219 +type: NodeRename +old_value: Abnormality of vertebral epiphysis morphology +new_value: Abnormal vertebral epiphysis morphology +about_node: HP:0100734 + +--- +id: uuid:da4cef7c-01df-45a0-b64f-27978ec3d351 +type: NodeTextDefinitionChange +old_value: This condition is caused by slow-growing conglomeration of dust particles + and collagen deposition in individuals (mostly coal workers) heavily exposed to + inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually + bilateral and in\nthe upper lobes. Background nodular opacities reflect accompanying + pneumoconiosis, with or without emphysematous destruction adjacent to the massive + fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other + conditions, such as sarcoidosis and talcosis. +new_value: This condition is caused by slow-growing conglomeration of dust particles + and collagen deposition in individuals (mostly coal workers) heavily exposed to + inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually + bilateral and in the upper lobes. Background nodular opacities reflect accompanying + pneumoconiosis, with or without emphysematous destruction adjacent to the massive + fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other + conditions, such as sarcoidosis and talcosis. +about_node: HP:0033706 + +--- +id: uuid:456792af-eb7c-43cc-8443-bceaea6bd1b1 +type: NodeTextDefinitionChange +old_value: A type of blistering in which the lesions are located within the epidermis + with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in + the basal layer, which is the innermost layer of the epidermis and consists of a + single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate + and thereby produce new cells for other epidermal layers. As the cells move towards + the upper layers of the epidermis they mature and eventually form cornified cells. + The suprabasal cell layer lies directly above the basal layer and is composed of + five to ten layers of cells. +new_value: A type of blistering in which the lesions are located within the epidermis + with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs + in the basal layer, which is the innermost layer of the epidermis and consists of + a single layer of basal germinative cells (mostly epidermal Keratinocytes) that + proliferate and thereby produce new cells for other epidermal layers. As the cells + move towards the upper layers of the epidermis they mature and eventually form cornified + cells. The suprabasal cell layer lies directly above the basal layer and is composed + of five to ten layers of cells. +about_node: HP:0033802 + +--- +id: uuid:a2ccb304-6819-4326-ba72-e19c0df1dcd6 +type: NodeTextDefinitionChange +old_value: Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. +new_value: Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation + above the upper limit of normal. +about_node: HP:0033464 + +--- +id: uuid:ef106e46-e39b-4434-881c-ec0dc5250f49 +type: NodeRename +old_value: Abnormality of skin morphology +new_value: Abnormal skin morphology +about_node: HP:0011121 + +--- +id: uuid:4c89a86f-59d9-477b-99ee-0d9faf84fefd +type: NodeRename +old_value: Abnormality of bladder morphology +new_value: Abnormal bladder morphology +about_node: HP:0025487 + +--- +id: uuid:230bdc2f-e085-47fd-ae25-d7a08a0f21a0 +type: NodeRename +old_value: Exacerbated by aspirin ingestion +new_value: Exacerbated by aspirin exposure +about_node: HP:0032365 + +--- +id: uuid:70c4fffb-e53a-4cab-a753-3a12330177d1 +type: NodeTextDefinitionChange +old_value: An abnormal phenomenon characterized by a classic tetrad of excessive daytime + sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of + muscle tone), hypnagogic hallucination, and sleep paralysis. +new_value: An abnormal phenomenon characterized by a classic tetrad of excessive daytime + sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of + muscle tone), hypnagogic hallucinations, and sleep paralysis. +about_node: HP:0030050 + +--- +id: uuid:b1456207-549e-4144-8c3b-8943b215c837 +type: NodeTextDefinitionChange +old_value: Difficulty reaching to visually guided goals in peripheral vision, with + the deficit leaves voluntary eye movements largely unaffected. +new_value: Difficulty reaching visually guided goals in peripheral vision, with the + deficit, leaves voluntary eye movements largely unaffected. +about_node: HP:0031868 + +--- +id: uuid:336b2f70-d932-42ca-afc8-b2af8bc85412 +type: NodeTextDefinitionChange +old_value: Unintentional reexperiencing a traumatic event comprising symptoms are + usually sensory impressions and emotional responses from the trauma that appear + to lack a time perspective and a context. +new_value: Unintentional re-experiencing of a traumatic event involves symptoms that + typically include sensory impressions and emotional responses stemming from the + trauma. These symptoms seem to lack a sense of time perspective and context. +about_node: HP:0032936 + +--- +id: uuid:f2d0f747-8ec4-4ea4-8773-f0a8c03d30c5 +type: NodeTextDefinitionChange +old_value: Cleft hard palate in which the cleft goes through the entire length of + the hard palate. +new_value: Cleft hard palate in which the cleft goes through the entire length of + the hard palate, ie. from the incisor foramen to the anterior border of the soft + palate. +about_node: HP:5201003 + +--- +id: uuid:32b6d520-23de-4bdf-a426-5e0714b71225 +type: NodeTextDefinitionChange +old_value: A sense of intense joy or happiness that is beyond what would be expected + under the given circumstances. +new_value: Euphoria is a feeling of intense joy, happiness, excitement, or elation + that surpasses what would typically be anticipated in a given situation. +about_node: HP:0031844 + +--- +id: uuid:93242f8e-cafd-4b51-8874-0bb201b4991b +type: NodeRename +old_value: Median cleft lip +new_value: Median cleft upper lip +about_node: HP:0000161 + +--- +id: uuid:a63696de-60e5-498b-a313-6b3b29632747 +type: NodeTextDefinitionChange +old_value: Attacks of disabling daytime drowsiness and low alertness. +new_value: A neurological disorder marked by a sudden recurrent uncontrollable compulsion + to sleep +about_node: HP:0002330 + +--- +id: uuid:c14c0f03-070e-4a50-b532-257630ec3779 +type: NodeTextDefinitionChange +old_value: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors + by histiocytes or macrophages either in a lymph node. +new_value: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors + by histiocytes or macrophages in a lymph node. +about_node: HP:0034707 + +--- +id: uuid:076ec412-c442-4576-9a81-4e14151a916b +type: NodeTextDefinitionChange +old_value: Increased amount of harderoporphyrin in the urine. +new_value: Concentration of harderoporphyrin in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0033627 + +--- +id: uuid:6510295d-fb16-4743-9df9-27c07b27dae6 +type: NodeRename +old_value: Abnormal vitamin B12 level +new_value: Abnormal circulating vitamin B12 concentration +about_node: HP:0040126 + +--- +id: uuid:6c72ec4c-0f79-44d8-aff0-49e0ff556f40 +type: NewTextDefinition +new_value: Uncontrolled movements result in tissue damage to the tongue and lips. +about_node: HP:0008767 + +--- +id: uuid:e48cbf01-4a2a-4e59-9979-5d1a1f6fc7c7 +type: NodeTextDefinitionChange +old_value: Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, + or labia majora). Warts can be small, beginning as a pinhead-size swelling that + may become larger and take on a pdenuculated appearance. Warts can spread and coalesce + into large masses in the genital or anal area. Their color is variable but tends + to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, + redness, or discomfort. An outbreak of genital warts may also cause psychological + distress. +new_value: Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, + or labia majora). Warts can be small, beginning as a pinhead-size swelling that + may become larger and take on a pedunculated appearance. Warts can spread and coalesce + into large masses in the genital or anal area. Their color is variable but tends + to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, + redness, or discomfort. An outbreak of genital warts may also cause psychological + distress. +about_node: HP:0032301 + +--- +id: uuid:f3851e47-75a9-462b-8b20-2565be41e66b +type: NewTextDefinition +new_value: Lack of intentional participation in interactions with another person. +about_node: HP:0008763 + +--- +id: uuid:33fac4c6-021f-48cf-9ee8-fbf18bad2022 +type: NodeRename +old_value: Increased level of ribitol in CSF +new_value: Increased CSF ribitol concentration +about_node: HP:0410071 + +--- +id: uuid:43f6dea1-dcd9-44dd-9295-7a0f7116d07c +type: NodeTextDefinitionChange +old_value: An increase in the level of ribitol in the cerebral spinal fluid. +new_value: The concentration of ribitol in the cerebrospinal fluid is above the upper + limit of normal. +about_node: HP:0410071 + +--- +id: uuid:624a24a3-1286-44d7-ba80-cffbaf04e11e +type: NodeRename +old_value: Astereognosia +new_value: Astereognosis +about_node: HP:0010527 + +--- +id: uuid:be8f2b9b-04a5-4993-a43e-8c0268b552a4 +type: NodeTextDefinitionChange +old_value: Inability to recognize the form of objects by touch without visual input. + That is, an impairment in the recognition of objects based only on the texture, + size, weight and three-dimensional form of the object in the absence of any major + somatosensory deficit. +new_value: Tactile agnosia refers to the inability to recognize objects by touch, + while the inability to discriminate shape and size by touch is also a related condition. +about_node: HP:0010527 + +--- +id: uuid:25fe89bf-f9c2-446a-8a59-b71b2b322a31 +type: NodeTextDefinitionChange +old_value: Inability to experience pleasure activities usually found enjoyable. +new_value: Inability to experience pleasurable activities usually found enjoyable. +about_node: HP:0012154 + +--- +id: uuid:0450f535-4cb7-4276-887e-ba9506badd52 +type: NodeRename +old_value: Morphological abnormality of the saccule +new_value: Abnormal saccule morphology +about_node: HP:0040110 + +--- +id: uuid:5aa77218-6799-4392-81b8-a1245ae08395 +type: NodeRename +old_value: Abnormality of the pituitary gland +new_value: Abnormal pituitary gland morphology +about_node: HP:0012503 + +--- +id: uuid:fc20ac87-78fb-4d6e-92de-0d3cc72da228 +type: NodeTextDefinitionChange +old_value: An abnormal concentration of a hormone in the blood. +new_value: Concentration of a hormone in the blood circulation outside of normal limits. +about_node: HP:0003117 + +--- +id: uuid:c83102b7-b28c-4156-8e2f-6d028415458a +type: NodeTextDefinitionChange +old_value: Deposition of calcium salts on both sides of the brain. +new_value: Deposition of calcium salts on both sides of the cerebrum. +about_node: HP:0005671 + +--- +id: uuid:61f81411-1f37-458d-b6b5-0a72a6298a6a +type: NodeTextDefinitionChange +old_value: A decreased concentration of homocystine in the blood. +new_value: A decreased concentration of homocysteine in the blood. +about_node: HP:0020222 + +--- +id: uuid:87adfbe5-ed28-4603-924f-d6f31747f2be +type: NodeRename +old_value: Abnormality of adrenal morphology +new_value: Abnormal adrenal morphology +about_node: HP:0011732 + +--- +id: uuid:e0eff2cf-e0bb-4e2e-9231-d370ae4f9d01 +type: NodeTextDefinitionChange +old_value: Perceptions in a conscious and awake state in the absence of external stimuli + which have qualities of real perception, in that they are vivid, substantial, and + located in external objective space. +new_value: Perceptions in a conscious and awake state that, in the absence of external + stimuli, have qualities of real perception. These perceptions are vivid, substantial, + and located in external objective space. +about_node: HP:0000738 + +--- +id: uuid:a42de62a-8060-49ab-b030-9f971e3e3927 +type: NodeRename +old_value: Inappropriate sexual behavior +new_value: Abnormal sexual behavior +about_node: HP:0008768 + +--- +id: uuid:70d36a76-6c2c-496b-beec-f96fa5f365a2 +type: NewTextDefinition +new_value: An explicit or perceived action, demonstration, conduct, or language (verbal + and written) of a sexual nature that goes against generally accepted norms, rules, + and procedures. It is considered unacceptable within the context in which it occurs, + or it may be both culturally acceptable and atypical/uncommon. +about_node: HP:0008768 + +--- +id: uuid:93ede593-191b-4229-af5a-5ebbccdda7d3 +type: NodeTextDefinitionChange +old_value: Reduced awareness of expected conventions which are normal and expected + for particular social settings or interactions. +new_value: Reduced awareness of expected conventions, which are normal and expected + for particular social settings or interactions. +about_node: HP:5200022 + +--- +id: uuid:756a4667-4411-467d-8dbd-53d9587200ba +type: NodeRename +old_value: History of recent cotralateral injury +new_value: History of recent contralateral injury +about_node: HP:4000151 + +--- +id: uuid:0d621983-509f-4e78-b5ab-0b3ee333eeeb +type: NodeTextDefinitionChange +old_value: Deviation from the commonly in healthy people observe cellular distribution. + Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils + less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. +new_value: Deviation from the commonly in healthy people observe cellular distribution. + Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less + than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. +about_node: HP:0032974 + +--- +id: uuid:bf45064e-d10c-4e37-a0c2-52122796c50a +type: NodeRename +old_value: Abnormality of the synovia +new_value: Abnormal synovial membrane morphology +about_node: HP:0005262 + +--- +id: uuid:c27a2ff9-ad2d-4077-9289-0677ce681065 +type: NewTextDefinition +new_value: Any structural anomaly of the synovium, which is a membrane that lines + the cavity of synovial joints and consists of a lining layer of macrophage-like + synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective + tissue. Synovial cells are thought to contribute to joint homeostasis by secreting + various factors such as hyaluronic acid and lubricin important for joint lubrication + and function, as well as disposing of the waste products. +about_node: HP:0005262 + +--- +id: uuid:3ba894e8-9370-4235-a72c-5d3f37d42279 +type: NodeRename +old_value: Abnormal fear/anxiety-related behavior +new_value: Abnormal fear-induced behavior +about_node: HP:0100852 + +--- +id: uuid:2f559eae-d96e-431a-9c57-1c48b05be7e4 +type: NodeTextDefinitionChange +old_value: An abnormality of fear/anxiety-related behavior, which may relate to either + abnormally reduced fear/anxiety-related response or increased fear/anxiety-related + response. +new_value: An abnormal fear-induced behavior includes observable actions. This behavior + is characterized by abnormal responses to fear or abnormal fear levels. Examples + of such behavior include avoiding fear-inducing situations. +about_node: HP:0100852 + +--- +id: uuid:4676a7e9-b78a-46d8-a73b-1062e27c61cd +type: NodeTextDefinitionChange +old_value: Increased concentration of decenoylcarnitine in the blood circulation. +new_value: Concentration of decenoylcarnitine in the blood circulation above the upper + limit of normal. +about_node: HP:0033439 + +--- +id: uuid:fe9a758c-8da9-444b-9717-5e748c4aa5ad +type: NodeTextDefinitionChange +old_value: Increased concentration of hexanoylcarnitine in the blood circulation. +new_value: Concentration of hexanoylcarnitine in the blood circulation above the upper + limit of normal. +about_node: HP:0033441 + +--- +id: uuid:c91ca9fc-39f9-4eee-85a7-8981806a352f +type: NodeTextDefinitionChange +old_value: Increased concentration of dodecanoylcarnitine in the blood circulation. +new_value: Concentration of dodecanoylcarnitine in the blood circulation above the + upper limit of normal. +about_node: HP:0033444 + +--- +id: uuid:e5c3b1aa-76b0-4fc8-a996-c61cfe068774 +type: NodeRename +old_value: Abnormality of digestive system morphology +new_value: Abnormal digestive system morphology +about_node: HP:0025033 + +--- +id: uuid:cb3b3b50-295f-4756-8f29-f135e8f37a5c +type: NodeTextDefinitionChange +old_value: Lack of emotional reactivity and empathy for situations or persons, sometime + also for family members. +new_value: Inability to feel positive or negative emotions, feelings of detachment, + or reduced emotional responsiveness. +about_node: HP:0030213 + +--- +id: uuid:66c2d3cf-45e6-46ab-8394-7e324eb08db9 +type: NodeTextDefinitionChange +old_value: A tendency towards rising very late in the morning and going to bed late + at night. +new_value: A tendency towards waking up very late in the morning and staying up late + at night. +about_node: HP:0031874 + +--- +id: uuid:bdff24ce-47bb-427d-9230-3b37e2233d65 +type: NodeTextDefinitionChange +old_value: Increased concentration of O-isovalerylcarnitine in the blood circulation. +new_value: Concentration of O-isovalerylcarnitine in the blood circulation above the + upper limit of normal. +about_node: HP:0033447 + +--- +id: uuid:e85159fd-5e57-401b-86a2-2d3cf0c2854e +type: NodeRename +old_value: Abnormality of femur morphology +new_value: Abnormal femur morphology +about_node: HP:0002823 + +--- +id: uuid:5a8f7da9-3449-496f-ae6b-9a93c3493b02 +type: NodeRename +old_value: Aggravated by acetylcholinesterase inhibitor +new_value: Exacerbated by acetylcholinesterase inhibitor exposure +about_node: HP:0032525 + +--- +id: uuid:e7d83f70-a891-4bef-a2ac-5545edde96e6 +type: NodeRename +old_value: Abnormality of the tympanic membrane +new_value: Abnormal tympanic membrane morphology +about_node: HP:0040090 + +--- +id: uuid:ffca6483-ee4e-449c-b406-9f3a95444810 +type: NodeTextDefinitionChange +old_value: An abnormality of the tympanic membrane +new_value: Any structural abnormality of the tympanic membrane +about_node: HP:0040090 + +--- +id: uuid:c1bd378b-1c92-4a98-85cf-0b7e5142f03b +type: NodeTextDefinitionChange +old_value: Bands of scar-like tisssue that hve formed within a cerebral ventricle. +new_value: Bands of scar-like tissue that hve formed within a cerebral ventricle. +about_node: HP:0100311 + +--- +id: uuid:9d36952d-9fea-4b8e-a21c-99e1e19eba5d +type: NewTextDefinition +new_value: Periods of time during which an individual experiences significant disturbances + in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch + with reality. These episodes are hallmark features of psychotic disorders such as + schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. +about_node: HP:0000725 + +--- +id: uuid:c646529d-23e8-4001-82dc-e145a3bc5062 +type: NodeTextDefinitionChange +old_value: Abnormal cognition with deficits in thinking, reasoning, or remembering. +new_value: Abnormal cognition is characterized by deficits in thinking, reasoning, + or remembering. +about_node: HP:0100543 + +--- +id: uuid:2b935f92-31fd-4790-8e77-5e77fa0b3cbb +type: NodeRename +old_value: Abnormality of vitamin A metabolism +new_value: Abnormal circulating vitamin A concentration +about_node: HP:0008372 + +--- +id: uuid:3bc85739-6988-429b-9f81-4c30c48858e9 +type: NewTextDefinition +new_value: Concentration of vitamin A in the blood circulation outside limits of normal. +about_node: HP:0008372 + +--- +id: uuid:943ec050-aea3-4c65-8c83-d1d46d2e48fe +type: NodeTextDefinitionChange +old_value: Poverty of behavior and speech output, lack of initiative, loss of emotional + responses, psychomotor slowing, and prolonged speech latency. +new_value: Abulia is a severe form of apathy, characterized by difficulty in initiating + and sustaining spontaneous movements, as well as reductions in emotional responsiveness, + spontaneous speech, and social interaction. +about_node: HP:0012671 + +--- +id: uuid:f649d783-ea83-42f5-b32a-8b22e0f8ba82 +type: NodeRename +old_value: Delusions +new_value: Delusion +about_node: HP:0000746 + +--- +id: uuid:64f98fed-8920-4679-a56d-91135f4f8028 +type: NodeTextDefinitionChange +old_value: A false belief that is held despite evidence to the contrary. +new_value: 'A delusion is a fixed false belief held despite evidence to the contrary. + The term delusion broadly encompasses all false judgments that possess the following + external characteristics to a significant, albeit unspecified, extent: (1) they + are held with an exceptional level of conviction, accompanied by an unparalleled + subjective certainty; (2) there is an inability to consider alternative experiences + or compelling counter-arguments; (3) the content of the belief is impossible.' +about_node: HP:0000746 + +--- +id: uuid:ffe68b15-6143-4367-a292-6ade4b4f15a7 +type: NodeRename +old_value: Abnormality of the peritoneum +new_value: Abnormal peritoneum morphology +about_node: HP:0002585 + +--- +id: uuid:f7984889-3a1b-42ff-9d2d-1a28d9501d2b +type: NodeRename +old_value: Elevated urinary uromodulin +new_value: Elevated urinary uromodulin level +about_node: HP:0020150 + +--- +id: uuid:dda68584-9010-44d6-a7d2-969b14ba73bb +type: NodeTextDefinitionChange +old_value: An increased amount of uromodulin (also known as Tamm Horsfall protein) + in the urine. +new_value: The concentration of uromodulin (also known as Tamm Horsfall protein) in + the urine, normalized for urine concentration, is above the upper limit of normal. +about_node: HP:0020150 + +--- +id: uuid:089e2791-7384-4726-a07d-ef1f62486293 +type: NodeTextDefinitionChange +old_value: Abnormal and compulsive consumption of food, liquid, or objects that could + have negative consequences for the individual. +new_value: Recurrent abnormal consumption of food, liquids, or objects that could + have negative consequences for the individual. +about_node: HP:0040202 + +--- +id: uuid:d4a23b05-38c1-42aa-bbfc-d8ea8aa167ac +type: NodeTextDefinitionChange +old_value: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus + adductus, and Achilles tendon shortening. The predominant radiographic findings + include forefoot adduction with lateral subluxation of the navicular on the talus + and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder + the metatarsal heads and thehead of the plantar-flexed talus. +new_value: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus + adductus, and Achilles tendon shortening. The predominant radiographic findings + include forefoot adduction with lateral subluxation of the navicular on the talus + and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur + under the metatarsal heads and the head of the plantar-flexed talus. +about_node: HP:0032649 + +--- +id: uuid:b0da0bba-36c7-4d2d-a4f3-584e4f3f0155 +type: NodeTextDefinitionChange +old_value: Any deivation from the normal concentration in the blood circulation of + a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, + and stimulate aggregation of platelets and constriction of blood vessels. +new_value: Any deviation from the normal concentration in the blood circulation of + a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, + and stimulate aggregation of platelets and constriction of blood vessels. +about_node: HP:0030389 + +--- +id: uuid:d0156ab1-a260-417f-b3bc-374c417c7322 +type: NodeTextDefinitionChange +old_value: A type of focal autonomic seizure characterised by penile erection as the + intial semiological feature. +new_value: A type of focal autonomic seizure characterised by penile erection as the + initial semiological feature. +about_node: HP:0032764 + +--- +id: uuid:137b76ec-1c3f-46b4-ad25-3331496891cf +type: NodeTextDefinitionChange +old_value: Persistance of a posterior remnant of the hyaloid artery located at the + optic disc. +new_value: Persistence of a posterior remnant of the hyaloid artery located at the + optic disc. +about_node: HP:0030743 + +--- +id: uuid:50869ac5-d563-4fbd-8051-e831b27fe04e +type: NodeRename +old_value: Elevated red cell adenosine deaminase level +new_value: Elevated red cell adenosine deaminase activity +about_node: HP:0030270 + +--- +id: uuid:22cb449f-a9e9-4df5-8534-4eb2b123e44f +type: NodeTextDefinitionChange +old_value: An intermittent cessation of airflow at the mouth and nose during sleep. + Apneas of at least 10 seconds are considered important, but persons with sleep apnea + may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 + events per hour of sleep. +new_value: An intermittent cessation of airflow at the mouth and nose during sleep + is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, + but individuals with sleep apnea may experience apneas lasting from 20 seconds up + to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. +about_node: HP:0010535 + +--- +id: uuid:4ff10bc9-7c23-493d-8c39-7d920263785c +type: NodeTextDefinitionChange +old_value: An abnormality of mental functioning including various affective, behavioral, + cognitive, and perceptual abnormalities. +new_value: Atypical behavior is an abnormality in a person's actions, which can be + controlled or modulated by the will of the individual. While abnormal behaviors + can be difficult to control, they are distinct from other abnormal actions that + cannot be affected by the individual's will. +about_node: HP:0000708 + +--- +id: uuid:649403b6-c002-4d9c-806d-ed4735dbd2aa +type: NodeRename +old_value: Cocaine addiction +new_value: Addictive cocaine use +about_node: HP:0033513 + +--- +id: uuid:2c892a73-d596-4134-b587-74fdb7add957 +type: NodeRename +old_value: Inheritance modifier +new_value: Inheritance qualifier +about_node: HP:0034335 + +--- +id: uuid:461d452a-8a97-48bd-8d46-d2a4113a113b +type: NodeRename +old_value: Morphological abnormality of the inner ear +new_value: Abnormal inner ear morphology +about_node: HP:0011390 + +--- +id: uuid:70e7483f-4cfb-45c2-9ab9-eb4444379948 +type: NodeTextDefinitionChange +old_value: The repetition of words or phrases that are odd or used in a nonsocial + manner. These can be words or phrases the person has heard or invented. +new_value: The repetition of words or phrases that are odd or used in a non-social + manner. These can be words or phrases that the person has heard or invented. +about_node: HP:0010529 + +--- +id: uuid:65014535-7942-4393-a3da-aa0654ce2884 +type: NodeRename +old_value: Hypnopompic hallucinations +new_value: Hypnopompic hallucination +about_node: HP:0006896 + +--- +id: uuid:5b8dcbfb-8c5c-4f6b-985e-5935a8084f56 +type: NodeTextDefinitionChange +old_value: Fleeting perceptual experiences that occur during the transition from sleep + to wakefulness. +new_value: Brief hallucinations that occur as you wake up in the morning, in a state + that falls somewhere between dreaming and being fully awake. +about_node: HP:0006896 + +--- +id: uuid:eb0d708d-55ac-4cb5-acc3-4c5d1d863fe9 +type: NodeRename +old_value: Abnormality of enteric ganglion morphology +new_value: Abnormal enteric ganglion morphology +about_node: HP:0004362 + +--- +id: uuid:e755a577-d99f-4e90-a5d2-cdee8b6dfce4 +type: NodeRename +old_value: Nitric oxide addiction +new_value: Addictive nitrous oxide use +about_node: HP:4000128 + +--- +id: uuid:af1630b8-9d73-49c2-b132-0e2d78579acf +type: NodeTextDefinitionChange +old_value: Addiction to inhaled nitrous oxide gas (N2O). +new_value: Addiction to inhaled nitrous oxide gas (N2O) is a growing concern. +about_node: HP:4000128 + +--- +id: uuid:c3ba17b4-7ea0-4970-bff1-ceb04b1c2b9d +type: NodeRename +old_value: Sleep disturbance +new_value: Sleep abnormality +about_node: HP:0002360 + +--- +id: uuid:75fc5ec8-8af0-4c8a-bcb2-d266128b9939 +type: NodeTextDefinitionChange +old_value: An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, + 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, + 5) sleep apnea, and 6) restlessness. +new_value: An abnormal pattern in the quality, quantity, or characteristics of sleep. +about_node: HP:0002360 + +--- +id: uuid:2b022323-d57d-4336-872a-76af6c2c7d13 +type: NodeRename +old_value: Morphological abnormality of the gastrointestinal tract +new_value: Abnormal gastrointestinal tract morphology +about_node: HP:0012718 + +--- +id: uuid:883688c9-6084-47d6-b7bf-c8baa267fa31 +type: NewTextDefinition +new_value: Deliberate harm to one's body resulting in tissue damage, without a conscious + intent to die. +about_node: HP:0000742 + +--- +id: uuid:bf554cd1-c407-4494-9611-eb05282ec860 +type: NodeRename +old_value: Abnormal circulating thyroglobulin level +new_value: Abnormal circulating thyroglobulin concentration +about_node: HP:0025483 + +--- +id: uuid:2d2c43b2-5d4e-4f80-810e-9315f363e0f1 +type: NodeTextDefinitionChange +old_value: Increased concentration of O-butyrylcarnitine in the blood circulation. +new_value: Concentration of O-butyrylcarnitine in the blood circulation above the + upper limit of normal. +about_node: HP:0033446 + +--- +id: uuid:3b7893c2-cf6b-4e14-b225-c7ae6d4bc51b +type: NewTextDefinition +new_value: Laughing that may be excessive and/or inappropriate in context (e.g., laughing + at a funeral while others are crying). +about_node: HP:0000748 + +--- +id: uuid:84b532f7-ae99-4fed-ae39-8446cbcf6d43 +type: NodeRename +old_value: Late spermatogenesis maturation arrest +new_value: Round spermatid arrest +about_node: HP:0031040 + +--- +id: uuid:872a2358-0477-47c6-9aeb-e319c7a6bae5 +type: NodeTextDefinitionChange +old_value: A type of maturation arrest in which spermatids are detected without spermatozoa. +new_value: A failure of spermatogenesis to progress beyond the round spermatid stage. + The round spermatid is the first haploid cells produced during spermatogenesis and + normally further develop into mature spermatozoa. This abnormality can be visualized + with testicular biopsy and is characterized seminiferous tubules with increased + numbers of round spermatids with few or no mature spermatozoa. +about_node: HP:0031040 + +--- +id: uuid:dad333ae-6107-43b3-b8e4-657ef2a6b7ef +type: NodeRename +old_value: Recurrent, involuntary and intrusive distressing memories +new_value: Recurrent, involuntary, and intrusive distressing memories +about_node: HP:0032937 + +--- +id: uuid:1cf1982f-6d38-4415-b9ee-f3cde0d283eb +type: NodeTextDefinitionChange +old_value: After suffering psychological trauma, people can repeatedly experience + sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. + These intrusive memories typically take the form of visual images (e.g., pictures + in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, + and come with a range of negative emotions associated with the hotspots in the trauma + memory. +new_value: After experiencing psychological trauma, individuals may repeatedly encounter + sensory-perceptual impressions of the event that intrude into their consciousness + involuntarily. These intrusive memories often manifest as visual images (such as + mental pictures), but can also involve sounds, smells, tastes, and physical sensations. + They are accompanied by a variety of negative emotions linked to the most intense + moments of the traumatic memory. +about_node: HP:0032937 + +--- +id: uuid:a7d49402-af22-4b04-aa1e-61acb0b1d6a8 +type: NodeRename +old_value: Duplicated lacrimal punctum +new_value: Supernumerary lacrimal punctum +about_node: HP:0032514 + +--- +id: uuid:35d3fd51-f2e8-4e34-8ef2-f4317e88e5b8 +type: NodeTextDefinitionChange +old_value: A congenital developmental anomaly characterized by the presence of two + (instead of the normal one) lacrimal punctum on one or both sides of the face. +new_value: A congenital developmental anomaly characterized by the presence of an + additional lacrimal punctum in an eyelid. +about_node: HP:0032514 + +--- +id: uuid:aa0f0a52-7f1f-4d11-a1e8-a9183256ba07 +type: NodeTextDefinitionChange +old_value: Frequent feelings of being down, miserable, and/or hopeless; difficulty + recovering from such moods; pessimism about the future; pervasive shame; feeling + of inferior self-worth; thoughts of suicide and suicidal behavior. +new_value: Frequently experiencing feelings of being down, miserable, and/or hopeless; + struggling to recover from these moods; having a pessimistic outlook on the future; + feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts + of suicide and engaging in suicidal behavior. +about_node: HP:0000716 + +--- +id: uuid:96d1925c-966a-4dd3-9681-97c28dbf552a +type: NodeTextDefinitionChange +old_value: Aggression towards oneself. +new_value: Self-aggression. +about_node: HP:0100716 + +--- +id: uuid:2690d6b9-b3cb-443a-8edc-3b77a611a2ef +type: NodeRename +old_value: Abnormality of optic chiasm morphology +new_value: Abnormal optic chiasm morphology +about_node: HP:0025163 + +--- +id: uuid:6a365fb0-d1ff-4dd4-b529-8407ed11bf2f +type: NodeTextDefinitionChange +old_value: Pathological persistent sexual disinhibiting behavior, directed at oneself + or to others. +new_value: Pathological persistent sexual disinhibiting behavior, directed towards + oneself or others. +about_node: HP:0030214 + +--- +id: uuid:4351961c-fb8c-4b5c-b5be-3f939aeb44cb +type: NodeTextDefinitionChange +old_value: Abnormal eating habit with excessive or insufficient consumption of food + or any other abnormal pattern of food consumption. +new_value: Abnormal eating habits involve excessive or insufficient consumption of + food, or any other abnormal pattern of food consumption. +about_node: HP:0100738 + +--- +id: uuid:5267971b-3e0e-41b7-b611-2d0dd3520321 +type: NodeTextDefinitionChange +old_value: An abnormally increased concentration of glycolate in the blood circulation. +new_value: The concentration of glycolate in the blood circulation is above the upper + limit of normal. +about_node: HP:0025641 + +--- +id: uuid:1310314f-f115-4a7c-816b-1e799385abaa +type: NodeTextDefinitionChange +old_value: Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative + that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl + group. +new_value: The concentration of hawkinsin in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0034457 + +--- +id: uuid:1a6fae62-8050-4604-8306-85a3899af6be +type: NodeTextDefinitionChange +old_value: A mental disorder characterized by a disintegration of thought processes + and of emotional responsiveness. It most commonly manifests as auditory hallucinations, + paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied + by significant social or occupational dysfunction. The onset of symptoms typically + occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. +new_value: A mental disorder characterized by a disintegration of thought processes + and emotional responsiveness. It most commonly manifests as auditory hallucinations, + paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied + by significant social or occupational dysfunction. The onset of symptoms typically + occurs in young adulthood, with a global lifetime prevalence of about 1%. This term + is not a helpful parent term to describe abnormal experiences. +about_node: HP:0100753 + +--- +id: uuid:97e83bcb-213a-471d-a2bf-aaadfddba57a +type: NodeRename +old_value: Extrapulmonary sequestrum +new_value: Extrapulmonary lobar sequestration +about_node: HP:0006544 + +--- +id: uuid:b0539246-8324-4bc4-8f61-7aab4235c3f1 +type: NodeTextDefinitionChange +old_value: Particularly loud snoring, snoring at high volume. +new_value: Snoring at a particularly loud or abnormally high volume. +about_node: HP:0025372 + +--- +id: uuid:b20bf9a8-c660-4b07-aec0-4d343619ea2c +type: NodeTextDefinitionChange +old_value: Decreased level of inosine in urine. Inosine is a purine nucleoside in + which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. +new_value: The amount of inosine in the urine, normalized for urine concentration, + is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine + is attached to ribofuranose via a beta-N(9)-glycosidic bond. +about_node: HP:0033159 + +--- +id: uuid:435d8943-d4e3-4e15-b0fc-7a57d7d89984 +type: NodeRename +old_value: Increased level of D-threitol in CSF +new_value: Increased CSF D-threitol concentration +about_node: HP:0410058 + +--- +id: uuid:906b0fc5-80e4-430e-9d2b-f5be832ff5be +type: NodeTextDefinitionChange +old_value: An increase in the level of D-threitol in the cerebrospinal fluid. +new_value: The concentration of D-threitol in the cerebrospinal fluid is above the + upper limit of normal. +about_node: HP:0410058 + +--- +id: uuid:eabbb632-c479-4491-8db6-235a9fde94f5 +type: NodeRename +old_value: Piebaldism +new_value: Piebald skin depigmentation +about_node: HP:0007544 + +--- +id: uuid:1780c268-2f15-48d2-a6c4-e990ca4b5210 +type: NodeTextDefinitionChange +old_value: Piebaldism is characterized by stable and persistent, well-circumscribed + depigmented patches present at birth affecting the skin of the face, trunk, and + extremities in a symmetrical distribution. +new_value: Congenital large depigmented (white) macule of irergular rhomboid shape. + Piebald skin depigmentation generally presents with multiple such macules in the + affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented + macules interspersed within the depigmented macules. +about_node: HP:0007544 + +--- +id: uuid:eb4dbcad-6881-4b75-afcc-0dc664d0d396 +type: NewTextDefinition +new_value: Tendency to avoid interpersonal exchanges characterizing by sharing of + personal feelings, expressions of understanding, affirmation, and demonstrations + of caring. +about_node: HP:5200111 + +--- +id: uuid:7107ff12-e8da-49cb-8125-162f91fb37b2 +type: NodeTextDefinitionChange +old_value: The absence of six or more teeth from the normal series by a failure\nto + develop. +new_value: The absence of six or more teeth from the normal series by a failure to + develop. +about_node: HP:0000677 + +--- +id: uuid:7d9360ce-b4d2-4ffe-8142-8e52750d2079 +type: NodeTextDefinitionChange +old_value: An abnormally increased number of metamyelocytes in the peripheral blood + circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, + an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday + granules, and a nucleus:cytoplasm ratio of 1.5:1. +new_value: The number of metamyelocytes in the peripheral blood circulation is above + the upper limit of normal. Metamyelocytes are immature neutrophils with a size of + 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm + with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1. +about_node: HP:0032238 + +--- +id: uuid:df528b9a-d70a-423c-9dce-f5f97edb5c30 +type: NodeTextDefinitionChange +old_value: Abnormalities in the sound of a person's speech or vocalization not necessarily + associated with a known physical cause or due to stuttering or stammering. +new_value: Abnormalities in the sound of a person's speech or vocalization are not + necessarily associated with a known physical cause or due to stuttering or stammering. +about_node: HP:0002167 + +--- +id: uuid:80a23aa2-b9cf-4eef-b476-314299eb6138 +type: NodeRename +old_value: Morphological abnormality of the middle ear +new_value: Abnormal middle ear morphology +about_node: HP:0008609 + +--- +id: uuid:1d67c7d9-44f5-48cc-ac70-d9d9a184640b +type: NodeTextDefinitionChange +old_value: Interstital aggregates of histiciocytes, occasionally multinucleated with + associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization + can range from poorly-to-well defined and multinucleated giant cells may be present + with no necrosis. +new_value: Interstital aggregates of histiciocytes, occasionally multinucleated with + associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization + can range from poorly-to-well defined and multinucleated giant cells may be present + with no necrosis. +about_node: HP:0032643 + +--- +id: uuid:c38a93f2-841f-4a99-9d51-42a2e6d700f4 +type: NodeRename +old_value: Low levels of vitamin B2 +new_value: Decreased circulating vitamin B2 concentration +about_node: HP:0100504 + +--- +id: uuid:111bb6a2-78e8-4587-952c-b2a6570782fa +type: NodeTextDefinitionChange +old_value: A reduced concentration of vitamin B2. +new_value: The concentration of vitamin B2 in the blood circulation is below the lower + limit of normal. +about_node: HP:0100504 + +--- +id: uuid:cfce3898-d054-4ed1-a5fe-5e70380e0f20 +type: NodeTextDefinitionChange +old_value: An increased in the level of suberic acid in the urine above the normal + range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy + derivative of hexane. +new_value: The concentration of suberic acid in the urine, normalized for urine concentration, + is above the upper limit of normal. +about_node: HP:0033213 + +--- +id: uuid:cf8441b4-bd2c-4627-a500-612f0ed70559 +type: NodeRename +old_value: Abnormality of female external genitalia +new_value: Abnormal female external genitalia morphology +about_node: HP:0000055 + +--- +id: uuid:e39f6875-8983-48de-97e0-81ac1633e0b4 +type: NodeTextDefinitionChange +old_value: An abnormality of the female external genitalia. +new_value: Any structural abnormality of the female external genitalia. +about_node: HP:0000055 + +--- +id: uuid:5891ecc9-8009-43f8-893e-80567075e8ff +type: NodeRename +old_value: Decreased phytanoyl-CoA hydroxylase activity +new_value: Reduced phytanic acid oxidase activity in cultured fibroblasts +about_node: HP:4000163 + +--- +id: uuid:4aa19872-9c91-4b63-b427-ee9fd369c663 +type: NodeTextDefinitionChange +old_value: Reduced activity of the enzyme phytanoyl-CoA hydroxylase, which plays a + role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal + constituent of the human diet. +new_value: Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) + below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the + catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent + of the human diet. +about_node: HP:4000163 + +--- +id: uuid:f3056d59-8441-44e2-ba59-d95b32c9883e +type: NodeRename +old_value: Impaired renal ltubular reabsorption of chloride +new_value: Impaired renal tubular reabsorption of chloride +about_node: HP:0005579 + +--- +id: uuid:51b4d0ca-fab3-4222-8bc0-065708884e9a +type: NodeTextDefinitionChange +old_value: Any impairment of reabsorption of chloride by the kidney in order to not + lose too much chloride in the urine. +new_value: Any impairment of reabsorption of chloride by the kidney. +about_node: HP:0005579 + +--- +id: uuid:65b5a2d7-c01f-4e33-b363-9b8ac2075b0a +type: NodeTextDefinitionChange +old_value: Recurrent distressing dreams in which the content and/or affect of the + dream are related to the traumatic event or events. +new_value: Recurrent distressing dreams occur when the content and/or emotional impact + of the dream is connected to a traumatic event or events. +about_node: HP:0032938 + +--- +id: uuid:eeca3999-0ff8-4ddb-93f0-140d6396dfcb +type: NodeRename +old_value: Morphological abnormality of the lateral semicircular canal +new_value: Abnormal lateral semicircular canal morphology +about_node: HP:0040106 + +--- +id: uuid:d0ef7a98-dfe8-4f39-ae4c-aaa90566f8c9 +type: NodeRename +old_value: Non-rapid eye movement parasomnia +new_value: NREM parasomnia +about_node: HP:0025235 + +--- +id: uuid:2831c165-aaef-4f4e-b4c3-2420b0a0a409 +type: NodeTextDefinitionChange +old_value: A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers + to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). +new_value: A parasomnia that occurs during non-rapid eye movement (NREM) sleep. +about_node: HP:0025235 + +--- +id: uuid:85515008-6815-47d6-b013-865aef682a89 +type: NodeRename +old_value: Abnormality of mesentery morphology +new_value: Abnormal mesentery morphology +about_node: HP:0100016 + +--- +id: uuid:f8e44233-b002-41cc-a5c9-3fa8d43749e1 +type: NewTextDefinition +new_value: A benign tumor of connective tissue containing mucous or gelatinous material + (myxoma) localized in the pumonic valve. +about_node: HP:0006691 + +--- +id: uuid:05168b59-781e-4025-98f5-b1ee6f0d7b41 +type: NodeTextDefinitionChange +old_value: Any deviation from the normal range of the thickness of the tricpes skinfold, + which quantifies the amount of subcutaneous fat when the skin is pinched by specialized + calipers. +new_value: Any deviation from the normal range of the thickness of the triceps skinfold, + which quantifies the amount of subcutaneous fat when the skin is pinched by specialized + calipers. +about_node: HP:0033171 + +--- +id: uuid:566db498-416c-45ed-9dd7-d0138539fb70 +type: NodeRename +old_value: Socially innappropriate questionning +new_value: Socially inappropriate questioning +about_node: HP:5200068 + +--- +id: uuid:c2a35c4e-d9b7-40c3-b14e-0b6e7e4d87d0 +type: NodeRename +old_value: Facial cleft +new_value: Tessier cleft +about_node: HP:0002006 + +--- +id: uuid:7dea0807-9755-4851-b5ad-8093a8fe3d88 +type: NodeTextDefinitionChange +old_value: Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds + caused by the vibration of respiratory structures (especially the soft palate) resulting + in sound due to obstructed air movement during breathing while sleeping. +new_value: Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, + is caused by the vibration of respiratory structures, especially the soft palate. + This vibration results in sound due to obstructed air movement during breathing + while sleeping. +about_node: HP:0025267 + +--- +id: uuid:8424b461-0f3b-4819-8919-b09b1b7caf2e +type: NodeRename +old_value: Increased urinary sulfite +new_value: Increased urinary sulfite level +about_node: HP:0011942 + +--- +id: uuid:cfd6cadc-c5fe-43ad-b461-2a170fb7e4db +type: NodeTextDefinitionChange +old_value: Increased concentration of SO3(2-), i.e., sulfite, in the urine. +new_value: The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for + urine concentration, is above the upper limit of normal. +about_node: HP:0011942 + +--- +id: uuid:cb2cf3ff-a93f-4d4b-b82f-5ac13156a8b5 +type: NodeRename +old_value: Decreased adenosylcobalamin +new_value: Decreased circulating adenosylcobalamin concentration +about_node: HP:0003145 + +--- +id: uuid:1441567a-d146-4bcc-a604-6394945f2f71 +type: NodeTextDefinitionChange +old_value: Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one + of the active forms of vitamin B12. +new_value: The concentration of adenosylcobalam in the blood circulation is below + the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin + B12. +about_node: HP:0003145 + +--- +id: uuid:d3f2b858-a57e-4f1b-ba08-99e5e016bae6 +type: NodeRename +old_value: Low levels of vitamin E +new_value: Decreased circulating vitamin E concentration +about_node: HP:0100513 + +--- +id: uuid:969bfde2-85d6-4803-9d93-6d489fdcb369 +type: NodeTextDefinitionChange +old_value: The presence of autoantibodies in the blood circulation that react against + bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding + host protein with important antibacterial effects against Gram-negative bacteria, + such as Pseudomonas aeruginosa. \nBPI is a 55 kDalton protein that is most abundant + in the azurophilic granules of neutrophils. BPI also acts as a target antigen for + antineutrophil cytoplasmic autoantibodies. +new_value: The presence of autoantibodies in the blood circulation that react against + bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding + host protein with important antibacterial effects against Gram-negative bacteria, + such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant + in the azurophilic granules of neutrophils. BPI also acts as a target antigen for + antineutrophil cytoplasmic autoantibodies. +about_node: HP:0033561 + +--- +id: uuid:5ca3cf93-c590-46ff-b19f-61d8e54408ae +type: NodeRename +old_value: Decreased methylcobalamin +new_value: Decreased circulating methylcobalamin concentration +about_node: HP:0003223 + +--- +id: uuid:45c7251d-ed38-4120-b453-6ab9fe7e251f +type: NodeTextDefinitionChange +old_value: Decreased concentration of methylcobalamin. Methylcobalamin is a form of + vitamin B12. +new_value: The concentration of methylcobalamin in the blood circulation is below + the lower limit of normal. Methylcobalamin is a form of vitamin B12. +about_node: HP:0003223 + +--- +id: uuid:6fa60116-0aca-4cee-8afd-b632fba5d373 +type: NewSynonym +new_value: Manic depressive +about_node: HP:0007302 +predicate: oio:hasExactSynonym + +--- +id: uuid:5153422c-daca-4dff-8e9c-2a94093f004d +type: NewSynonym +new_value: Bipolar depression +about_node: HP:0007302 +predicate: oio:hasExactSynonym + +--- +id: uuid:4c3261df-4e2a-4fe6-a3c9-67cd1cc726af +type: NewSynonym +new_value: Angiotensin-converting enzyme high in CSF +about_node: HP:0034406 +predicate: oio:hasExactSynonym + +--- +id: uuid:7e70296d-22c1-41d4-9d3a-8ec6b55685f0 +type: NewSynonym +new_value: Sleep rhythm inversion +about_node: HP:0031849 +predicate: oio:hasExactSynonym + +--- +id: uuid:e1177531-09f9-4ec4-a321-ef452a569d08 +type: NewSynonym +new_value: Reversed sleep-wake cycle +about_node: HP:0031849 +predicate: oio:hasExactSynonym + +--- +id: uuid:32739cb7-a477-4b65-a17a-a53eaa01a5ed +type: NewSynonym +new_value: Altered consciousness or cognition +about_node: HP:0031258 +predicate: oio:hasExactSynonym + +--- +id: uuid:b0d3055a-4379-49bc-b741-9d1203121ecd +type: NewSynonym +new_value: Abnormality of cardiovascular system morphology +about_node: HP:0030680 +predicate: oio:hasExactSynonym + +--- +id: uuid:ba62dbe7-f9d0-429e-920b-57ecbe0283fa +type: NewSynonym +new_value: Abnormal circulating vitamin B6 level +about_node: HP:0032476 +predicate: oio:hasExactSynonym + +--- +id: uuid:a8b8590d-5aff-4811-b067-38b82eefdc51 +type: NewSynonym +new_value: Hexosaminidase B low in blood +about_node: HP:0033978 +predicate: oio:hasExactSynonym + +--- +id: uuid:2a6f5d6a-ba32-4103-be87-44ad4229b471 +type: NewSynonym +new_value: Antimicrosomal antibody positivity +about_node: HP:0025379 +predicate: oio:hasExactSynonym + +--- +id: uuid:c0374cc2-1a72-44c0-9fcb-0c43f5176334 +type: NewSynonym +new_value: Antimicrosomal antibodies +about_node: HP:0025379 +predicate: oio:hasExactSynonym + +--- +id: uuid:6a25b9b5-d15d-40a5-a9f8-6fdb668f6988 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circulating C18:0 acylcarnitine concentration +about_node: HP:0033381 +predicate: oio:hasExactSynonym + +--- +id: uuid:da6781ab-3354-4723-882b-ead6ed136876 +type: NewSynonym +new_value: Low levels of vitamin E +about_node: HP:0100513 +predicate: oio:hasExactSynonym + +--- +id: uuid:073e5541-16ec-4908-b0aa-721c36f4c81e +type: NewSynonym +new_value: C-ANCA antibodies +about_node: HP:0032230 +predicate: oio:hasExactSynonym + +--- +id: uuid:0da85d06-c0b3-4770-87c3-38ead2dc4284 +type: NewSynonym +new_value: Cytoplasmic antineutrophil cytoplasmic antibodies +about_node: HP:0032230 +predicate: oio:hasExactSynonym + +--- +id: uuid:fdbce72d-a66e-4ce8-ae2f-de8682518444 +type: NewSynonym +new_value: Decreased methylcobalamin +about_node: HP:0003223 +predicate: oio:hasExactSynonym + +--- +id: uuid:efc1e62a-0e46-48cd-8032-2664f4e122dc +type: NewSynonym +new_value: VSGP +about_node: HP:0000511 +predicate: oio:hasExactSynonym + +--- +id: uuid:a37a7738-c45e-4a0a-be0f-94a4063cb5d7 +type: EdgeDeletion 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uuid:06c561c3-59da-428e-a327-3bc6d83f3665 +type: EdgeDeletion +subject: HP:0007378 +predicate: rdfs:subClassOf +object: HP:0011793 + +--- +id: uuid:b2bac4cc-ca29-4d49-a798-15e8c350ea7f +type: NodeMove +about_edge: + subject: HP:0007378 + predicate: rdfs:subClassOf + object: HP:0034930 + +--- +id: uuid:f492ddf4-5c04-4d8e-af09-c546111f0df5 +type: EdgeDeletion +subject: HP:0034574 +predicate: rdfs:subClassOf +object: HP:0034573 + +--- +id: uuid:51a2af22-d369-41e3-a02c-d17208828f36 +type: NodeMove +about_edge: + subject: HP:0034574 + predicate: rdfs:subClassOf + object: HP:0035004 + +--- +id: uuid:66004385-5b27-4e62-bbca-f470a41de222 +type: EdgeDeletion +subject: HP:0025379 +predicate: rdfs:subClassOf +object: HP:0030057 + +--- +id: uuid:ecee220a-21e7-483c-82cf-6b0c909f8cfa +type: NodeMove +about_edge: + subject: HP:0025379 + predicate: rdfs:subClassOf + object: HP:0430050 + +--- +id: uuid:e0ad485b-9db0-494b-843d-dc42550c907b +type: EdgeDeletion +subject: HP:0034116 +predicate: rdfs:subClassOf +object: HP:0030057 + +--- +id: uuid:be711aa7-5d3c-43ac-a33d-4199d024efa2 +type: EdgeDeletion +subject: HP:0010524 +predicate: rdfs:subClassOf +object: HP:0011446 + +--- +id: uuid:e8e6d7aa-1c6e-4b52-81bd-ff022eab109c +type: NodeMove +about_edge: + subject: HP:0010524 + predicate: rdfs:subClassOf + object: HP:5200204 + +--- +id: uuid:6f0a50c0-76ea-4408-8649-9b2d588b4485 +type: EdgeDeletion +subject: HP:0100754 +predicate: rdfs:subClassOf +object: HP:0000708 + +--- +id: uuid:42e46f59-0e31-48e4-86f3-51d156750c59 +type: NodeMove +about_edge: + subject: HP:0100754 + predicate: rdfs:subClassOf + object: HP:5200263 + +--- +id: uuid:70b2f047-1bb8-4579-b5b3-65b55704ca4c +type: NodeMove +about_edge: + subject: HP:0100754 + predicate: rdfs:subClassOf + object: HP:0100851 + +--- +id: uuid:1f3536d0-9490-425e-b2d7-26867fa92068 +type: EdgeDeletion +subject: HP:0000722 +predicate: rdfs:subClassOf +object: HP:0031432 + +--- +id: uuid:fa8c6376-6d0c-46c2-9a1a-c6feb93e802a +type: NodeMove +about_edge: + subject: HP:0000722 + predicate: rdfs:subClassOf + object: HP:5200241 + +--- +id: uuid:5381eda1-0592-4fa8-b1c2-a4fe41b7339d +type: EdgeDeletion +subject: HP:0000735 +predicate: rdfs:subClassOf +object: HP:0000729 + +--- +id: uuid:5bc68764-ff29-49c7-891a-790be8f59d42 +type: EdgeDeletion +subject: HP:0000735 +predicate: rdfs:subClassOf +object: HP:0012433 + +--- +id: uuid:fdf3d794-0387-48aa-b96e-b83135aeeb46 +type: NodeMove +about_edge: + subject: HP:0000735 + predicate: rdfs:subClassOf + object: HP:0012760 + +--- +id: uuid:89fc8d20-9e8c-45bb-be17-c25d3bf00e62 +type: EdgeDeletion +subject: HP:0030273 +predicate: rdfs:subClassOf +object: HP:0030272 + +--- +id: uuid:855c322c-49a6-4e57-bf9e-03937fb50f34 +type: NodeMove +about_edge: + subject: HP:0030273 + predicate: rdfs:subClassOf + object: HP:4000209 + +--- +id: uuid:ace617f2-e64d-4dea-9e6f-0c78bbb7ccc5 +type: EdgeDeletion +subject: HP:5200021 +predicate: rdfs:subClassOf +object: HP:0012433 + +--- +id: uuid:9905ad7f-40b9-45b9-ba61-af96049aab99 +type: NodeMove +about_edge: + subject: HP:5200021 + predicate: rdfs:subClassOf + object: HP:5200401 + +--- +id: uuid:74ca138f-e6a1-4a2d-b912-ec667c2c79da +type: EdgeDeletion +subject: HP:0001442 +predicate: rdfs:subClassOf +object: HP:0000005 + +--- +id: uuid:63748375-7da7-46ad-bd4b-ddcb97bf5619 +type: NodeMove +about_edge: + subject: HP:0001442 + predicate: rdfs:subClassOf + object: HP:0034335 + +--- +id: uuid:3dd10615-5acb-4426-8fe7-86cd9c8a0e61 +type: EdgeDeletion +subject: HP:0032940 +predicate: rdfs:subClassOf +object: HP:0000708 + +--- +id: uuid:227a4dbd-4c4e-4e0c-bb96-6d06e5f9c230 +type: NodeMove +about_edge: + subject: HP:0032940 + predicate: rdfs:subClassOf + object: HP:5200216 + +--- +id: uuid:65bfb12f-05ec-47e6-9eb8-9124b59a2c2a +type: EdgeDeletion +subject: HP:0100705 +predicate: rdfs:subClassOf +object: HP:0002011 + +--- +id: uuid:be8ae8a3-c4b8-479d-802f-c52b1e59d03b +type: NodeMove +about_edge: + subject: HP:0100705 + predicate: rdfs:subClassOf + object: HP:0012639 + +--- +id: uuid:c514eda1-c19b-4ec7-b840-c431b8405d35 +type: EdgeDeletion +subject: HP:0004378 +predicate: rdfs:subClassOf +object: HP:0012732 + +--- +id: uuid:a319691c-85d5-4bb6-91b1-81ca8b7ea7e1 +type: NodeMove +about_edge: + subject: HP:0004378 + predicate: rdfs:subClassOf + object: HP:0025031 + +--- +id: uuid:dc4d102a-c9d9-49e2-bcf3-3d21df3e348a +type: EdgeDeletion +subject: HP:0025253 +predicate: rdfs:subClassOf +object: HP:0100852 + +--- +id: uuid:a51f1630-70ca-42ce-aec6-2d30bbc7fa03 +type: NodeMove +about_edge: + subject: HP:0025253 + predicate: rdfs:subClassOf + object: HP:5200232 + +--- +id: uuid:aaa5d297-015e-46be-9571-c18b7474d6f8 +type: EdgeDeletion +subject: HP:0033694 +predicate: rdfs:subClassOf +object: HP:0000738 + +--- +id: uuid:63db74da-0660-458d-a3ca-41d462a177fa +type: NodeMove +about_edge: + subject: HP:0033694 + predicate: rdfs:subClassOf + object: HP:5200214 + +--- +id: uuid:0030022b-61ee-4412-8d74-37adadfa26d0 +type: EdgeDeletion +subject: HP:0005692 +predicate: rdfs:subClassOf +object: HP:0001382 + +--- +id: uuid:82aefb0e-9872-445a-9b6d-81654f66318a +type: NodeMove +about_edge: + subject: HP:0032509 + predicate: rdfs:subClassOf + object: HP:0012170 + +--- +id: uuid:744b9b7b-ac90-4f24-9c49-872bfeff5396 +type: EdgeDeletion +subject: HP:0020152 +predicate: rdfs:subClassOf +object: HP:0001388 + +--- +id: uuid:b7e67ac7-42d7-46e5-9553-82a2b3a4c952 +type: NodeMove +about_edge: + subject: HP:0020152 + predicate: rdfs:subClassOf + object: HP:0430046 + +--- +id: uuid:eeb5fc6b-f6ba-4b70-8458-640cad3df3bb +type: EdgeDeletion +subject: HP:0033484 +predicate: rdfs:subClassOf +object: HP:0045045 + +--- +id: uuid:ba707721-d94a-4a7b-b5ac-9e1d155ebe9e +type: NodeMove +about_edge: + subject: HP:0033484 + predicate: rdfs:subClassOf + object: HP:0035020 + +--- +id: uuid:c0f1dac8-555e-435f-9887-482548cfce34 +type: EdgeDeletion +subject: HP:0034434 +predicate: rdfs:subClassOf +object: HP:0000708 + +--- +id: uuid:ef598acd-5a92-4d77-9e3f-70d751e66351 +type: NodeMove +about_edge: + subject: HP:0034434 + predicate: rdfs:subClassOf + object: HP:0011446 + +--- +id: uuid:0815b27f-7d79-4d14-ae22-e87bedb7cda5 +type: EdgeDeletion +subject: HP:0012452 +predicate: rdfs:subClassOf +object: HP:0002360 + +--- +id: uuid:1f2ca573-e8e5-4661-8abf-b51100de6955 +type: NodeMove +about_edge: + subject: HP:0012452 + predicate: rdfs:subClassOf + object: HP:5200300 + +--- +id: uuid:d4016dee-c2eb-41bb-bd96-4cfbb41b78da +type: NodeMove +about_edge: + subject: HP:0012452 + predicate: rdfs:subClassOf + object: HP:0031943 + +--- +id: uuid:f43d9e39-179b-4781-bf5d-db06c5fc5055 +type: EdgeDeletion +subject: HP:0033516 +predicate: rdfs:subClassOf +object: HP:0033511 + +--- +id: uuid:8292ab82-1466-4390-93c3-b42be5efd56e +type: NodeMove +about_edge: + subject: HP:0033516 + predicate: rdfs:subClassOf + object: HP:5200331 + +--- +id: uuid:aa44df5f-a5ff-4089-9444-a12a7c905818 +type: EdgeDeletion +subject: HP:0001428 +predicate: rdfs:subClassOf +object: HP:0034335 + +--- +id: uuid:3739c399-18da-49c7-b141-c24713c52a14 +type: EdgeDeletion +subject: HP:0000739 +predicate: rdfs:subClassOf +object: HP:0100852 + +--- +id: uuid:d36b912f-070e-43ea-b784-232d3563b9ad +type: NodeMove +about_edge: + subject: HP:0000739 + predicate: rdfs:subClassOf + object: HP:5200230 + +--- +id: uuid:bd3a62bd-5dd7-4084-ace9-5217d56090e7 +type: EdgeDeletion +subject: HP:0031544 +predicate: rdfs:subClassOf +object: HP:0045045 + +--- +id: uuid:842e44b8-9c8a-45f6-aa56-47c26f33e7f5 +type: NodeMove +about_edge: + subject: HP:0031544 + predicate: rdfs:subClassOf + object: HP:0035021 + +--- +id: uuid:0106037b-9c01-4a4b-834d-aa11886e98da +type: EdgeDeletion +subject: HP:0032069 +predicate: rdfs:subClassOf +object: HP:0030057 + +--- +id: uuid:cc13727a-b939-4bcd-af4a-4b2957b1ab0d +type: NodeMove +about_edge: + subject: HP:0032069 + predicate: rdfs:subClassOf + object: HP:0430050 + +--- +id: uuid:b9154499-b720-46d3-94ff-fb2b0b067cc6 +type: EdgeDeletion +subject: HP:0001345 +predicate: rdfs:subClassOf +object: HP:0000709 + +--- +id: uuid:8b5a58b6-c04a-434e-bc88-3f3dbe3ec6d4 +type: NodeMove +about_edge: + subject: HP:0001345 + predicate: rdfs:subClassOf + object: HP:5200430 + +--- +id: uuid:0129ec8e-91f0-459e-930a-bc6da848285d +type: EdgeDeletion +subject: HP:0012390 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:f2e5d79c-1c14-4b33-b9c9-461841792ff4 +type: NodeMove +about_edge: + subject: HP:0012390 + predicate: rdfs:subClassOf + object: HP:0034915 + +--- +id: uuid:07335967-64d8-400e-8141-8b0f5ca204e7 +type: EdgeDeletion +subject: HP:0000734 +predicate: rdfs:subClassOf +object: HP:5200045 + +--- +id: uuid:acef50fa-2afa-4c63-ba96-d6f897fa295a +type: NodeMove +about_edge: + subject: HP:0000734 + predicate: rdfs:subClassOf + object: HP:5200241 + +--- +id: uuid:301aecd0-70f4-4227-ac3e-18e6d329e5a1 +type: EdgeDeletion +subject: HP:0033160 +predicate: rdfs:subClassOf +object: HP:0033161 + +--- +id: uuid:24e69ab7-e36c-4761-beb5-6a6189d2cdf6 +type: NodeMove +about_edge: + subject: HP:0033160 + predicate: rdfs:subClassOf + object: HP:0040423 + +--- +id: uuid:d0eb9aea-c3a9-4c1c-a397-fdc5340132a3 +type: EdgeDeletion +subject: HP:0000718 +predicate: rdfs:subClassOf +object: HP:0006919 + +--- +id: uuid:bfbd88ae-9b1f-426c-86af-e87433ca8a21 +type: NodeMove +about_edge: + subject: HP:0000718 + predicate: rdfs:subClassOf + object: HP:5200241 + +--- +id: uuid:73078028-c95f-4604-8558-d5463ca2f933 +type: EdgeDeletion +subject: HP:0031516 +predicate: rdfs:subClassOf +object: HP:0033338 + +--- +id: uuid:3f639e7a-3be3-439a-9cc0-e6c0074f610d +type: NodeMove +about_edge: + subject: HP:0031516 + predicate: rdfs:subClassOf + object: HP:0034914 + +--- +id: uuid:b458c80f-ea1f-48dd-9b2a-48c7753c3633 +type: EdgeDeletion +subject: HP:0034039 +predicate: rdfs:subClassOf +object: HP:0034041 + +--- +id: uuid:724ae13a-1b56-41ff-9d23-dc8ed9b9cb19 +type: NodeMove +about_edge: + subject: HP:0034039 + predicate: rdfs:subClassOf + object: HP:0006682 + +--- +id: uuid:869e16c6-03f6-4ec9-b3c2-81b718752de4 +type: NodeMove +about_edge: + subject: HP:0002519 + predicate: rdfs:subClassOf + object: HP:5200296 + +--- +id: uuid:125207f6-e9c3-4416-8a00-75ae7e9fb1e0 +type: EdgeDeletion +subject: HP:0010472 +predicate: rdfs:subClassOf +object: HP:0032180 + +--- +id: uuid:79e6670a-5d6e-4b33-8c44-abe20d25822b +type: NodeMove +about_edge: + subject: HP:0010472 + predicate: rdfs:subClassOf + object: HP:0430071 + +--- +id: uuid:5d5dafe9-3891-4504-a754-c96cb779ab0f +type: EdgeDeletion +subject: HP:0006121 +predicate: rdfs:subClassOf +object: HP:0007460 + +--- +id: uuid:7b67920b-639e-4145-b885-e79a8cc863ac +type: EdgeDeletion +subject: HP:0002025 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:e186dff9-36c2-41f7-a9e5-e142d25a96ca +type: NodeMove +about_edge: + subject: HP:0002025 + predicate: rdfs:subClassOf + object: HP:0034915 + +--- +id: uuid:43482ad7-48d7-4818-9b0d-7d99e68e1378 +type: EdgeDeletion +subject: HP:0010485 +predicate: rdfs:subClassOf +object: HP:0001382 + +--- +id: uuid:a4cbd278-6fac-4263-9689-a10f86a1fe29 +type: NodeMove +about_edge: + subject: HP:0010485 + predicate: rdfs:subClassOf + object: HP:0430046 + +--- +id: uuid:2ffade08-4e55-4f55-a3ec-99c4b74bbc38 +type: EdgeDeletion +subject: HP:0003528 +predicate: rdfs:subClassOf +object: HP:0100530 + +--- +id: uuid:998a579c-959d-4bb2-a33b-7f62e4561984 +type: NodeMove +about_edge: + subject: HP:0003528 + predicate: rdfs:subClassOf + object: HP:0034902 + +--- +id: uuid:f30621a9-f117-4c56-ab82-30111a301f1f +type: EdgeDeletion +subject: HP:0002023 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:b5531c90-75fb-4ace-a86f-81a349d39d59 +type: NodeMove +about_edge: + subject: HP:0002023 + predicate: rdfs:subClassOf + object: HP:0034915 + +--- +id: uuid:752e1a00-9b32-4c24-a95e-f6b48721b705 +type: EdgeDeletion +subject: HP:0031097 +predicate: rdfs:subClassOf +object: HP:0012503 + +--- +id: uuid:554741e8-7fe4-4c85-83c3-ddc97e65218f +type: NodeMove +about_edge: + subject: HP:0031097 + predicate: rdfs:subClassOf + object: HP:0003117 + +--- +id: uuid:2003770e-9066-46a8-a6b1-625c4bcf7443 +type: EdgeDeletion +subject: HP:0000388 +predicate: rdfs:subClassOf +object: HP:0000370 + +--- +id: uuid:6410735c-988e-419f-8e36-c79bdef463e7 +type: NodeMove +about_edge: + subject: HP:0000388 + predicate: rdfs:subClassOf + object: HP:0008609 + +--- +id: uuid:4aa9081c-2798-4c4b-aba8-d0269278e436 +type: EdgeDeletion +subject: HP:0000752 +predicate: rdfs:subClassOf +object: HP:5200045 + +--- +id: uuid:392d48e5-f2a5-4b21-a71b-22c9c1fafe7a +type: NodeMove +about_edge: + subject: HP:0000752 + predicate: rdfs:subClassOf + object: HP:0000734 + +--- +id: uuid:2bc0348a-7736-4eb2-a2e2-142d2c3b17d0 +type: EdgeDeletion +subject: HP:0010961 +predicate: rdfs:subClassOf +object: HP:0010960 + +--- +id: uuid:365acd8a-b0e5-4e21-aa40-9004e58639f9 +type: EdgeDeletion +subject: HP:0030858 +predicate: rdfs:subClassOf +object: HP:5200045 + +--- +id: uuid:142800cc-8f77-4377-aa19-31dd44864085 +type: NodeMove +about_edge: + subject: HP:0030858 + predicate: rdfs:subClassOf + object: HP:5200241 + +--- +id: uuid:2df5b0b1-ed68-4945-ba6b-b34a4253638d +type: EdgeDeletion +subject: HP:0032942 +predicate: rdfs:subClassOf +object: HP:0033676 + +--- +id: uuid:0418e425-2f52-409f-9d07-8aa7efb84bba +type: NodeMove +about_edge: + subject: HP:0032942 + predicate: rdfs:subClassOf + object: HP:0100852 + +--- +id: uuid:a7c43d02-2180-48f2-81e6-bbf1a5282c17 +type: EdgeDeletion +subject: HP:0000976 +predicate: rdfs:subClassOf +object: HP:0000964 + +--- +id: uuid:f5fcce2d-95d8-4b82-8b5c-07444b402b21 +type: EdgeDeletion +subject: HP:0004058 +predicate: rdfs:subClassOf +object: HP:0001180 + +--- +id: uuid:c5c9a977-5812-4e57-8b88-f0b527d0bc5b +type: NodeMove +about_edge: + subject: HP:0004058 + predicate: rdfs:subClassOf + object: HP:0009380 + +--- +id: uuid:d0e5d682-9a5b-4c90-8273-8ffea3099465 +type: EdgeDeletion +subject: HP:5200130 +predicate: rdfs:subClassOf +object: HP:5200045 + +--- +id: uuid:55563ee8-f75f-4e1f-9625-f39b5acb3daa +type: NodeMove +about_edge: + subject: HP:5200130 + predicate: rdfs:subClassOf + object: HP:0000734 + +--- +id: uuid:28ab77a7-65de-4dba-b024-f7ee47525ff6 +type: NodeMove +about_edge: + subject: HP:0030810 + predicate: rdfs:subClassOf + object: HP:0031815 + +--- +id: uuid:d7f9b3f2-5d89-41a9-b009-cb254c2dbd4b +type: EdgeDeletion +subject: HP:0005620 +predicate: rdfs:subClassOf +object: HP:0001382 + +--- +id: uuid:edcca7f5-9572-4325-b10b-899ef8b34167 +type: NodeMove +about_edge: + subject: HP:0005620 + predicate: rdfs:subClassOf + object: HP:0430046 + +--- +id: uuid:fb652299-691f-4aee-9cda-4d3f0a4de39e +type: EdgeDeletion +subject: HP:5200001 +predicate: rdfs:subClassOf +object: HP:0034434 + +--- +id: uuid:8a995ed2-8261-4a49-9051-40e1906d3447 +type: NodeMove +about_edge: + subject: HP:5200001 + predicate: rdfs:subClassOf + object: HP:0002300 + +--- +id: uuid:aee95011-a529-4931-904f-a8acb87fb788 +type: EdgeDeletion +subject: HP:4000083 +predicate: rdfs:subClassOf +object: HP:5200004 + +--- +id: uuid:e3de0cfb-1029-420e-b40f-da54ef5ca1bc +type: EdgeDeletion +subject: HP:4000083 +predicate: rdfs:subClassOf +object: HP:5200136 + +--- +id: uuid:a8115826-ab64-4908-89e5-4a7e5b0be293 +type: NodeMove +about_edge: + subject: HP:4000083 + predicate: rdfs:subClassOf + object: HP:5200103 + +--- +id: uuid:8ba0126a-fdd0-46dc-bb73-abd200919a25 +type: EdgeDeletion +subject: HP:0011999 +predicate: rdfs:subClassOf +object: HP:0000746 + +--- +id: uuid:4cf3b31f-ef7a-4994-986a-962f1b37833a +type: NodeMove +about_edge: + subject: HP:0011999 + predicate: rdfs:subClassOf + object: HP:5200242 + +--- +id: uuid:535356c1-f8fd-4c01-adaf-0d47a781baa1 +type: EdgeDeletion +subject: HP:0000756 +predicate: rdfs:subClassOf +object: HP:0100852 + +--- +id: uuid:49ae9130-8512-438c-b0ce-1b8e324c77ed +type: NodeMove +about_edge: + subject: HP:0000756 + predicate: rdfs:subClassOf + object: HP:5200232 + +--- +id: uuid:5476c029-c999-4338-a09a-ae4ebdbf198e +type: EdgeDeletion +subject: HP:0034476 +predicate: rdfs:subClassOf +object: HP:0031685 + +--- +id: uuid:1ddea0ed-fdc3-42bc-948e-749ce4b9ff97 +type: NodeMove +about_edge: + subject: HP:0034476 + predicate: rdfs:subClassOf + object: HP:0034866 + +--- +id: uuid:994e6629-05c4-40ad-bd65-d5e5b77e5b7c +type: NodeMove +about_edge: + subject: HP:0025236 + predicate: rdfs:subClassOf + object: HP:5200300 + +--- +id: uuid:491fec26-bc9f-4ad6-b08e-2c7bf6d60986 +type: EdgeDeletion +subject: HP:0000723 +predicate: rdfs:subClassOf +object: HP:0000729 + +--- +id: uuid:3927bcae-6fc5-4fea-973e-e0cea24f432b +type: NodeMove +about_edge: + subject: HP:0000723 + predicate: rdfs:subClassOf + object: HP:0031432 + +--- +id: uuid:41d4d32c-ada2-4673-adb5-de279feffcb5 +type: EdgeDeletion +subject: HP:0009101 +predicate: rdfs:subClassOf +object: HP:0000204 + +--- +id: uuid:4912dab7-1307-46db-947d-8f1034e917df +type: NodeMove 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uuid:f7a36f55-b559-4cac-a0d7-506d016884d0 +type: NodeMove +about_edge: + subject: HP:0001335 + predicate: rdfs:subClassOf + object: HP:0034980 + +--- +id: uuid:bbbbd84f-709a-48d7-b14e-6b8f4b8367aa +type: NodeMove +about_edge: + subject: HP:0033625 + predicate: rdfs:subClassOf + object: HP:0031466 + +--- +id: uuid:81c0d391-a11b-417a-bcd1-233d37703dce +type: NodeMove +about_edge: + subject: HP:0033625 + predicate: rdfs:subClassOf + object: HP:5200230 + +--- +id: uuid:5808f7e9-1a70-4d9c-be9e-30def1cc84c6 +type: EdgeDeletion +subject: HP:0006960 +predicate: rdfs:subClassOf +object: HP:0002514 + +--- +id: uuid:426d4ddb-c505-4a7b-a5fa-59a23f01d8c9 +type: NodeMove +about_edge: + subject: HP:0006960 + predicate: rdfs:subClassOf + object: HP:0430048 + +--- +id: uuid:0bec70f3-01f0-43d9-853a-ca7d502303ef +type: EdgeDeletion +subject: HP:0007227 +predicate: rdfs:subClassOf +object: HP:0002536 + +--- +id: uuid:7d90a103-5097-47fa-8fc1-268bd9ab1cf8 +type: EdgeDeletion +subject: HP:0031588 +predicate: rdfs:subClassOf +object: HP:0100851 + +--- +id: uuid:162567bf-ea3e-45e6-a574-4cb407db03b8 +type: NodeMove +about_edge: + subject: HP:0031588 + predicate: rdfs:subClassOf + object: HP:5200261 + +--- +id: uuid:3dcb9b75-ff21-444f-bf5b-62246bb4df64 +type: EdgeDeletion +subject: HP:0034041 +predicate: rdfs:subClassOf +object: HP:0006682 + +--- +id: uuid:4e343360-d077-4c8f-a6e4-6106ca6a9cc2 +type: EdgeDeletion +subject: HP:5200027 +predicate: rdfs:subClassOf +object: HP:0012760 + +--- +id: uuid:dfc0575f-51d1-4897-b94f-4797fa3d967c +type: NodeMove +about_edge: + subject: HP:5200027 + predicate: rdfs:subClassOf + object: HP:5200020 + +--- +id: uuid:8e45262a-4228-4584-bf91-0d6bf7a9ceee +type: EdgeDeletion +subject: HP:0040262 +predicate: rdfs:subClassOf +object: HP:0000370 + +--- +id: uuid:cff5d0cc-4a05-48ad-85b8-dca2ec68c7af +type: NodeMove +about_edge: + subject: HP:0040262 + predicate: rdfs:subClassOf + object: HP:0000388 + +--- +id: uuid:d2acb7fb-4a87-46de-82c3-af603c546d64 +type: EdgeDeletion +subject: HP:0030437 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:d28e2c1c-ca68-4ff3-a2c2-a6157d96f622 +type: NodeMove +about_edge: + subject: HP:0030437 + predicate: rdfs:subClassOf + object: HP:0032186 + +--- +id: uuid:154182c0-c675-4070-8724-da3ffd4cfd65 +type: EdgeDeletion +subject: HP:0009789 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:7a561501-7ac0-443f-95b0-93befff7a1f4 +type: NodeMove +about_edge: + subject: HP:0009789 + predicate: rdfs:subClassOf + object: HP:0034915 + +--- +id: uuid:6e9633f0-a38c-4e01-bd32-b26c5431fc38 +type: EdgeDeletion +subject: HP:0033442 +predicate: rdfs:subClassOf +object: HP:0045045 + +--- +id: uuid:efae887b-0c6a-4119-a114-730f42f175ec +type: NodeMove +about_edge: + subject: HP:0033442 + predicate: rdfs:subClassOf + object: HP:0035019 + +--- +id: uuid:abce0b1e-4b72-4cd3-a70c-a60316020bc2 +type: EdgeDeletion +subject: HP:0025479 +predicate: rdfs:subClassOf +object: HP:0000708 + +--- +id: 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EdgeDeletion +subject: HP:0034616 +predicate: rdfs:subClassOf +object: HP:0032180 + +--- +id: uuid:3bf09177-5032-4924-86aa-8c873c51671f +type: NodeMove +about_edge: + subject: HP:0034616 + predicate: rdfs:subClassOf + object: HP:0430071 + +--- +id: uuid:0d95c528-44b4-4ebc-80b2-b5284002dcec +type: EdgeDeletion +subject: HP:0033386 +predicate: rdfs:subClassOf +object: HP:0032180 + +--- +id: uuid:10ba8651-8aab-4928-bdb4-d83ddfbd0f87 +type: NodeMove +about_edge: + subject: HP:0033386 + predicate: rdfs:subClassOf + object: HP:0430071 + +--- +id: uuid:ff66cad9-7c2b-48b6-b0f1-45f5d9b8f40f +type: EdgeDeletion +subject: HP:0006230 +predicate: rdfs:subClassOf +object: HP:0001180 + +--- +id: uuid:34dca32b-397e-4434-938a-773f854f1589 +type: NodeMove +about_edge: + subject: HP:0006230 + predicate: rdfs:subClassOf + object: HP:0009380 + +--- +id: uuid:a48535b3-f831-47f4-803d-e1ee99d0549d +type: EdgeDeletion +subject: HP:0010569 +predicate: rdfs:subClassOf +object: HP:0003107 + +--- +id: 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rdfs:subClassOf +object: HP:0002788 + +--- +id: uuid:52915885-e9ef-4399-9b22-75f5425bc6f4 +type: NodeMove +about_edge: + subject: HP:0002837 + predicate: rdfs:subClassOf + object: HP:0002783 + +--- +id: uuid:f186ef37-242e-4bb6-98d2-8e349b4d1775 +type: EdgeDeletion +subject: HP:0004397 +predicate: rdfs:subClassOf +object: HP:0004378 + +--- +id: uuid:93a20b8a-0aea-436a-9eaa-0354f6ac97dc +type: NodeMove +about_edge: + subject: HP:0004397 + predicate: rdfs:subClassOf + object: HP:0034915 + +--- +id: uuid:8c2d33ee-068c-4d65-a4c7-7f31855983d8 +type: EdgeDeletion +subject: HP:5200006 +predicate: rdfs:subClassOf +object: HP:4000072 + +--- +id: uuid:fe5e3c0e-4bfc-4aef-9729-47da306cddf3 +type: NodeMove +about_edge: + subject: HP:5200006 + predicate: rdfs:subClassOf + object: HP:5200235 + +--- +id: uuid:71cd05fb-7537-412f-96af-97166b497f0e +type: EdgeDeletion +subject: HP:0010960 +predicate: rdfs:subClassOf +object: HP:4000059 + +--- +id: uuid:60859b4d-3cd2-4eb0-8ad4-2b46ea504199 +type: NodeMove 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rdfs:subClassOf +object: HP:0002415 + +--- +id: uuid:78a9e3db-1815-4bc7-a84a-444c9c133cc3 +type: EdgeDeletion +subject: HP:0011814 +predicate: rdfs:subClassOf +object: HP:0033354 + +--- +id: uuid:4ebf6958-83a8-4e1b-b128-0e61ea52697f +type: NodeMove +about_edge: + subject: HP:0011814 + predicate: rdfs:subClassOf + object: HP:0040425 + +--- +id: uuid:c7d078cf-66e6-4cd7-979d-3b4ab9a61ef0 +type: EdgeDeletion +subject: HP:0000719 +predicate: rdfs:subClassOf +object: HP:0031466 + +--- +id: uuid:718d858c-8e6b-4e24-bdca-0478ea0bb91e +type: NodeMove +about_edge: + subject: HP:0000719 + predicate: rdfs:subClassOf + object: HP:5200029 + +--- +id: uuid:807d8f7f-9a52-405b-b819-efca4085c279 +type: EdgeDeletion +subject: HP:0000757 +predicate: rdfs:subClassOf +object: HP:0000708 + +--- +id: uuid:1266502c-d3b7-4d7f-b0b5-bf51c0d9aa4e +type: NodeMove +about_edge: + subject: HP:0000757 + predicate: rdfs:subClassOf + object: HP:5200401 + +--- +id: uuid:1df89eee-b39d-46ff-a1ab-f5c40cc3f116 +type: EdgeDeletion +subject: HP:0410031 +predicate: rdfs:subClassOf +object: HP:0000175 + +--- +id: uuid:6b9ba568-1007-4758-824d-2226510260af +type: NodeMove +about_edge: + subject: HP:0410031 + predicate: rdfs:subClassOf + object: HP:0410005 + +--- +id: uuid:632850bf-ee03-48a5-aed2-eb2a260e3c57 +type: NodeMove +about_edge: + subject: HP:0410031 + predicate: rdfs:subClassOf + object: HP:5201016 + +--- +id: uuid:a9d16907-c5b6-4c6d-be09-bbd272da6ba6 +type: NodeMove +about_edge: + subject: HP:0410031 + predicate: rdfs:subClassOf + object: HP:0000185 + +--- +id: uuid:a51c32df-3146-42a6-8fc9-329fb0ba57b4 +type: NodeMove +about_edge: + subject: HP:0000744 + predicate: rdfs:subClassOf + object: HP:0031466 + +--- +id: uuid:b8c2191c-31dd-4195-9e31-49923bd7cde4 +type: EdgeDeletion +subject: HP:0034189 +predicate: rdfs:subClassOf +object: HP:0030057 + +--- +id: uuid:2a72d514-7164-4b6a-914a-3fed62b6db24 +type: NodeMove +about_edge: + subject: HP:0034189 + predicate: rdfs:subClassOf + object: HP:0430050 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EdgeDeletion +subject: HP:0002186 +predicate: rdfs:subClassOf +object: HP:0011446