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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


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Boucher-Neuhauser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		JBrowse link
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 chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:141,877,775...141,899,259
Ensembl chr 2:141,884,155...141,886,330 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Boucher-Neuhauser syndrome 3
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              retinal disease 1172
                retinal degeneration 822
                  fundus dystrophy 693
                    Boucher-Neuhauser syndrome 3
paths to the root