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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Boucher-Neuhauser syndrome
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Accession:DOID:0111265 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BNHS;   ataxia-hypogonadism-choroidal dystrophy syndrome;   chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
 primary_id: MESH:C565850
 alt_id: OMIM:215470
 xref: GARD:944;   ORDO:1180
For additional species annotation, visit the Alliance of Genome Resources.



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Boucher-Neuhauser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Boucher-Neuhauser syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  Spinocerebellar Ataxias 350
                    Boucher-Neuhauser syndrome 1
paths to the root