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Metadata
ID DOID:0111874
Name Sabinas brittle hair syndrome
Definition A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
https://pubmed.ncbi.nlm.nih.gov/7325159/
Xrefs

MESH:C536320

OMIM:211390

ORDO:3123

Subsets

DO_rare_slim

Synonyms

brittle hair-mental deficiency syndrome [EXACT]

trichothiodystrophy type B [EXACT]

Parent Relationships

is_a nonphotosensitive trichothiodystrophy

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