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ONTOLOGY REPORT - ANNOTATIONS


Term:Waisman syndrome
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Accession:DOID:0111781 term browser browse the term
Definition:A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in RAB39B on chromosome Xq28. (DO)
Synonyms:exact_synonym: BGMR;   Basal Ganglion Disorder With Mental Retardation;   Laxova Brown Hogan syndrome;   Laxova-Opitz syndrome;   WSMN;   WSN;   X-linked recessive basal ganglia disorder with mental retardation;   basal ganglia disorder with mental retardation;   early onset parkinsonism with mental retardation;   early-onset parkinsonism-intellectual disability syndrome
 primary_id: MESH:C537179
 alt_id: OMIM:311510
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Waisman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clic2 chloride intracellular channel 2 JBrowse link 20 295,338 310,363 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Waisman syndrome 1
Path 2
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    Waisman syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.