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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: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 the RAB39B gene 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
 xref: NCI:C184991


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Waisman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome ClinVar PMID:25434005 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Waisman syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Waisman syndrome 1
paths to the root