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ONTOLOGY REPORT - ANNOTATIONS


Term:Boucher-Neuhauser syndrome
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Accession:DOID:0111265 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0014385
 xref: GARD:944;   ORDO:1180
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Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          fundus dystrophy 264
            Boucher-Neuhauser syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    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.