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Metadata
ID DOID:0050528
Name nonphotosensitive trichothiodystrophy 4
Definition A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
https://ghr.nlm.nih.gov/condition/trichothiodystrophy
Xrefs

OMIM:234050

Synonyms

AMISH BRITTLE HAIR BRAIN SYNDROME [EXACT]

BIDS syndrome [EXACT]

HAIR-BRAIN SYNDROME [EXACT]

TTD4 [EXACT]

Parent Relationships

is_a nonphotosensitive trichothiodystrophy

is_a autosomal recessive disease

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