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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:Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
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Accession:DOID:9003041 term browser browse the term
Definition:This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. (OMIM)
Synonyms:exact_synonym: CCND2-RELATED CONDITION;   MPPH3
 primary_id: MIM:615938
 alt_id: RDO:9001317


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Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: CCND2-related condition | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar		 PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    syndrome 10876
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16269
    Developmental Disease 14074
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13131
        genetic disease 12822
          monogenic disease 10919
            autosomal genetic disease 10434
              autosomal dominant disease 6782
                complex cortical dysplasia with other brain malformations 1653
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
paths to the root