FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

trichothiodystrophy

Synonyms
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.

ID

http://purl.obolibrary.org/obo/DOID_0111866

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

trichothiodystrophy

prefixIRI

DOID:0111866

prefLabel

trichothiodystrophy

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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