Visualize Submit Comment
Metadata
ID DOID:0050528
Name nonphotosensitive trichothiodystrophy
Definition An autosomal recessive disease 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]

Parent Relationships

is_a autosomal recessive disease

Add an item to the term tracker