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Echinobase
Summary Literature (0)
DOID:0050528 - nonphotosensitive trichothiodystrophy 4

Disease Ontology 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.

Synonyms: AMISH BRITTLE HAIR BRAIN SYNDROME, BIDS SYNDROME, BIDS syndrome, HAIR-BRAIN SYNDROME, TTD4,

Echinobase Genes :


OMIM:
MIM:234050 - trichothiodystrophy, nonphotosensitive 1; ttdn1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)