Bjornstad syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bcs1l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009872 - Bjornstad syndrome

MONDO:0009872 - Bjornstad syndrome

MIM:

MIM:262000 - BJORNSTAD SYNDROME; BJS

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)