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DOID:0111265 - Boucher-Neuhauser syndrome
Disease Ontology Definition:A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
Synonyms: ataxia-hypogonadism-choroidal dystrophy syndrome
Xenbase Genes
:
pnpla6
| MIM:215470 - BOUCHER-NEUHAUSER SYNDROME; BNHS |
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)