Search Ontology:
Human Disease

Boucher-Neuhauser syndrome

Term ID
DOID:0111265
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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