FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Boucher-Neuhauser syndrome ID (Ontology) DOID:0111265 (Human Disease)
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.
Also Known As "ataxia-hypogonadism-choroidal dystrophy syndrome"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Boucher-Neuhauser syndrome       2      2      1
 for disease ribbon | Boucher-Neuhauser syndrome       --       1       --
 model of | Boucher-Neuhauser syndrome       2      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Boucher-Neuhauser syndrome  5 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "ataxia-hypogonadism-choroidal dystrophy syndrome" EXACT
Secondary IDs
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GARD:944
MESH:C565850
MIM:215470
ORDO:1180
SNOMEDCT_US_2023_03_01:715984007
UMLS_CUI:C1859093