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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 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
 xref: NCI:C184991
For additional species annotation, visit the Alliance of Genome Resources.



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Waisman syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    Waisman syndrome 1
paths to the root