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DO Term : trichothiodystrophy [DOID:0111866] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • TTD,
  • OMIM:PS601675,
  • PS601675,
  • NCI:C4924,
  • ORDO:33364,
  • MESH:D054463,
  • UMLS_CUI:C1955934,
  • SNOMEDCT_US_2023_03_01:723551003
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents