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new release date v2 02/19/20
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melodyswen committed Feb 19, 2020
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5 changes: 2 additions & 3 deletions src/ontology/HumanDO.obo
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format-version: 1.2
data-version: doid/releases/2020-02-19/doid-non-classified.obo
date: 19:02:2020 14:45
date: 19:02:2020 15:05
saved-by: lschriml
subsetdef: DO_AGR_slim "DO_AGR_slim"
subsetdef: DO_cancer_slim "DO_cancer_slim"
Expand Down Expand Up @@ -98461,7 +98461,6 @@ name: systemic scleroderma
def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." [url:https\://ghr.nlm.nih.gov/condition/systemic-scleroderma] {comment="sn:IEDB"}
subset: NCIthesaurus
synonym: "progressive systemic sclerosis" EXACT []
synonym: "PSS" EXACT []
synonym: "Scleroderma" EXACT []
synonym: "Scleroderma syndrome" EXACT []
synonym: "systemic sclerosis" EXACT []
Expand Down Expand Up @@ -131045,8 +131044,8 @@ subset: zoonotic_infectious_disease
synonym: "Post Kala-Azar Dermal Leishmaniasis" RELATED [NCI2004_11_17:C34936]
synonym: "Post Kala-Azar Dermal Leishmaniasis" RELATED []
synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED []
synonym: "Post-kala-azar dermal leishmaniasis" RELATED []
synonym: "Post-kala-azar dermal leishmaniasis" RELATED [SNOMEDCT_2005_07_31:67896006]
synonym: "Post-kala-azar dermal leishmaniasis" RELATED []
xref: GARD:6881
xref: ICD10CM:B55
xref: ICD10CM:B55.9
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28 changes: 12 additions & 16 deletions src/ontology/HumanDO.owl
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Expand Up @@ -15021,8 +15021,6 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>
<oboInOwl:hasDbXref>ORDO:97120</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en">Arthrogryposis Multiplex Congenita</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Freeman-Sheldon syndrome</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Freeman-Sheldon syndrome variant</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Sheldon-Hall syndrome</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
<oboInOwl:id>DOID:0050646</oboInOwl:id>
<oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
Expand Down Expand Up @@ -20428,8 +20426,8 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0050854"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44.</owl:annotatedTarget>
<obo:IAO_0000115>url:https://www.ncbi.nlm.nih.gov/pubmed/11687797</obo:IAO_0000115>
<dc:type rdf:resource="http://purl.obolibrary.org/obo/ECO_0007645"/>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/11687797</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/11992256</oboInOwl:hasDbXref>
</owl:Axiom>

Expand Down Expand Up @@ -98011,7 +98009,6 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<oboInOwl:hasExactSynonym xml:lang="en">EDS IX</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Ehlers-Danlos syndrome type 9</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Ehlers-Danlos syndrome type IX</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">OHS</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">X-linked cutis laxa</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
<oboInOwl:id>DOID:0111272</oboInOwl:id>
Expand Down Expand Up @@ -106920,7 +106917,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<oboInOwl:hasDbXref>GARD:12844</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>OMIM:221200</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>ORDO:363396</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en"> DFNMYP</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">DFNMYP</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">deafness and myopia</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">deafness and myopia syndrome</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
Expand Down Expand Up @@ -107532,7 +107529,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_14793"/>
<obo:IAO_0000115>A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in EDARADD on chromosome 1q42-q43.</obo:IAO_0000115>
<oboInOwl:hasDbXref>OMIM:614940</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en"> ECTD11A</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ECTD11A</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
<oboInOwl:id>DOID:0111653</oboInOwl:id>
Expand All @@ -107554,7 +107551,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_14793"/>
<obo:IAO_0000115>A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43.</obo:IAO_0000115>
<oboInOwl:hasDbXref>OMIM:614941</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en"> ECTD11B</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ECTD11B</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
<oboInOwl:id>DOID:0111654</oboInOwl:id>
Expand Down Expand Up @@ -107715,7 +107712,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<oboInOwl:hasDbXref>UMLS_CUI:C0406715</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en">ECTD8</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Fried&apos;s tooth and nail syndrome</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 8, hair/tooth/nail type </oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 8, hair/tooth/nail type</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
<oboInOwl:id>DOID:0111661</oboInOwl:id>
<rdfs:label>ectodermal dysplasia 8</rdfs:label>
Expand Down Expand Up @@ -107793,7 +107790,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<oboInOwl:hasExactSynonym xml:lang="en">XHED</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">XLHED</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 1, anhidrotic</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 1, hypohidrotic, X-linked </oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 1, hypohidrotic, X-linked</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">hypohidrotic ectodermal dysplasia, X-Linked</oboInOwl:hasExactSynonym>
<oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
Expand Down Expand Up @@ -107954,7 +107951,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>

<owl:Class rdf:about="http://purl.obolibrary.org/obo/DOID_0111670">
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_2977"/>
<obo:IAO_0000115>A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3</obo:IAO_0000115>
<obo:IAO_0000115>A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3.</obo:IAO_0000115>
<oboInOwl:hasDbXref>GARD:2835</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>MESH:C536414</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>OMIM:259900</oboInOwl:hasDbXref>
Expand All @@ -107974,7 +107971,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0111670"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3</owl:annotatedTarget>
<owl:annotatedTarget>A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3.</owl:annotatedTarget>
<dc:type rdf:resource="http://purl.obolibrary.org/obo/ECO_0007645"/>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/19479957</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/2039493</oboInOwl:hasDbXref>
Expand All @@ -107986,7 +107983,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>

<owl:Class rdf:about="http://purl.obolibrary.org/obo/DOID_0111671">
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_2977"/>
<obo:IAO_0000115>A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2</obo:IAO_0000115>
<obo:IAO_0000115>A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.</obo:IAO_0000115>
<oboInOwl:hasDbXref>GARD:2836</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>MESH:C536415</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>OMIM:260000</oboInOwl:hasDbXref>
Expand All @@ -108003,7 +108000,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0111671"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2</owl:annotatedTarget>
<owl:annotatedTarget>A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.</owl:annotatedTarget>
<dc:type rdf:resource="http://purl.obolibrary.org/obo/ECO_0007645"/>
<dc:type rdf:resource="http://purl.obolibrary.org/obo/ECO_0007646"/>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/books/NBK2692/</oboInOwl:hasDbXref>
Expand Down Expand Up @@ -194804,7 +194801,7 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>

<owl:Class rdf:about="http://purl.obolibrary.org/obo/DOID_3911">
<rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_225"/>
<obo:IAO_0000115>A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22</obo:IAO_0000115>
<obo:IAO_0000115>A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.</obo:IAO_0000115>
<oboInOwl:hasDbXref>CSP2005:0071-4237</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>GARD:7467</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>ICD10CM:E34.8</oboInOwl:hasDbXref>
Expand All @@ -194830,7 +194827,7 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_3911"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22</owl:annotatedTarget>
<owl:annotatedTarget>A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.</owl:annotatedTarget>
<dc:type rdf:resource="http://purl.obolibrary.org/obo/ECO_0007645"/>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/12714972</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>url:https://www.ncbi.nlm.nih.gov/pubmed/16838330</oboInOwl:hasDbXref>
Expand Down Expand Up @@ -198533,7 +198530,6 @@ OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].</rdfs:comment>
<oboInOwl:hasDbXref>OMIM:181750</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>SNOMEDCT_US_2018_03_01:89155008</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref>UMLS_CUI:C0036421</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym xml:lang="en">PSS</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Scleroderma</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">Scleroderma syndrome</oboInOwl:hasExactSynonym>
<oboInOwl:hasExactSynonym xml:lang="en">progressive systemic sclerosis</oboInOwl:hasExactSynonym>
Expand Down
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