ZFIN Human Disease: Boucher-Neuhauser syndrome

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:	GARD:944 MESH:C565850 OMIM:215470 ORDO:1180 SNOMEDCT_US_2023_03_01:715984007 UMLS_CUI:C1859093
Ontology:	Human Disease ( DOID:0111265 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Boucher-Neuhauser syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PNPLA6	pnpla6	Boucher-Neuhauser syndrome	215470

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None