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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:Warburg micro syndrome 3
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Accession:DOID:0110718 term browser browse the term
Definition:A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. (DO)
Synonyms:exact_synonym: MICRO SYNDROME 3;   WARBM3
 primary_id: OMIM:614222
 alt_id: RDO:9000856
 xref: ICD10CM:Q87.0
For additional species annotation, visit the Alliance of Genome Resources.



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Warburg micro syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:614222
ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM
ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Warburg micro syndrome 4
        Warburg micro syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Warburg micro syndrome 4
                        Warburg micro syndrome 3 1
paths to the root