Metadata | |
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ID | DOID:0050528 |
Name | nonphotosensitive trichothiodystrophy 4 |
Definition | A nonphotosensitive trichothiodystrophy 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 | |
Synonyms |
AMISH BRITTLE HAIR BRAIN SYNDROME [EXACT] BIDS syndrome [EXACT] HAIR-BRAIN SYNDROME [EXACT] TTD4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |