OBO ID: DOID:0111265
Term Name: Boucher-Neuhauser syndrome Search Ontology:
Synonyms:
  • ataxia-hypogonadism-choroidal dystrophy syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/24355708
References:
Ontology: Human Disease   (DOID:0111265)
OTHER Boucher-Neuhauser syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPLA6 Boucher-Neuhauser syndrome 215470
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None