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DO Term : Sabinas brittle hair syndrome [DOID:0111874] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.

synonyms:
MESH:C536320,
brittle hair-mental deficiency syndrome,
trichothiodystrophy type B,
ORDO:3123,
OMIM:211390,
211390

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

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