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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0111866
http://purl.obolibrary.org/obo/DOID_0111866
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|---|---|
| Preferred Name | trichothiodystrophy |
| Definitions |
A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
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| Synonyms |
TTD
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. |
|---|---|
| label |
trichothiodystrophy
|
| prefLabel |
trichothiodystrophy
|
| database_cross_reference |
MESH:D054463
SNOMEDCT_US_2023_03_01:723551003
UMLS_CUI:C1955934
MIM:PS601675
NCI:C4924
ORDO:33364
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| notation |
DOID:0111866
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| in_subset | |
| id |
DOID:0111866
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| has_obo_namespace |
disease_ontology
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| subClassOf | |
| type | |
| has exact synonym |
TTD
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