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Metadata
ID DOID:0111866
Name trichothiodystrophy
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.
https://ghr.nlm.nih.gov/condition/trichothiodystrophy, https://pubmed.ncbi.nlm.nih.gov/18603627/
Xrefs

MESH:D054463

MIM:PS601675

NCI:C4924

ORDO:33364

SNOMEDCT_US_2023_03_01:723551003

UMLS_CUI:C1955934

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

TTD [EXACT]

Parent Relationships

is_a syndrome

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