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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 OMIM:215470
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Boucher-Neuhauser syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  Spinocerebellar Ataxias 284
                    Boucher-Neuhauser syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.