Search Ontology:
Human Disease
Boucher-Neuhauser syndrome
- Term ID
- DOID:0111265
- Synonyms
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- 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
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- GARD:944
- MESH:C565850
- MIM:215470
- ORDO:1180
- SNOMEDCT_US_2023_03_01:715984007
- UMLS_CUI:C1859093
- Ontology
- Human Disease ( DOID:0111265 )
- is a type of
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Genes Involved
Zebrafish Models