Terminology Service for NFDI4Health
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Trichothiodystrophy

Go to external page http://purl.obolibrary.org/obo/NCIT_C4924

A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility. [ ]

Term info

Label

Trichothiodystrophy

Synonyms
  • Trichothiodystrophy
  • Trichothiodystrophy Syndrome
  • trichothiodystrophy
Subsets

NCIT_C118168, NCIT_C116977

ALT DEFINITION

A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.

Display Name

Trichothiodystrophy

Legacy Concept Name

Trichothiodystrophy

Preferred Name

Trichothiodystrophy

Semantic Type

Disease or Syndrome

UMLS CUI

C1955934

code

C4924