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Echinobase
Summary Literature (0)
DOID:0050473 - Alstrom syndrome

Disease Ontology Definition:An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.

Synonyms:

Echinobase Genes :


OMIM:
OMIM:203800 - alstrom syndrome; alms

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)