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Disease Ontology Browser
Boucher-Neuhauser syndrome (DOID:0111265)
Alliance: disease page
Synonyms: ataxia-hypogonadism-choroidal dystrophy syndrome
Alt IDs: OMIM:215470, ORDO:1180, UMLS_CUI:C1859093
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory