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Echinobase
Summary Literature (0)
DOID:0050677 - Bjornstad syndrome

Disease Ontology Definition:A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.

Synonyms: BJS, deafness-pili torti-hypogonadism syndrome, PTD

Echinobase Genes : bcs1l


MIM:
MIM:262000 - bjornstad syndrome; bjs

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

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