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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-Polydactyly Syndrome
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Accession:DOID:9008200 term browser browse the term
Definition:An autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy. Caused by heterozygous mutation in the MYCN gene on chromosome 2p24.
Synonyms:exact_synonym: MPAPA
 primary_id: MIM:620748


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Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Neurodevelopmental Disorders 6949
        Ventriculomegaly 16
          Megalencephaly-Polydactyly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of cellular proliferation 7914
      cancer 5769
        organ system cancer 5529
          nervous system cancer 1000
            central nervous system cancer 803
              brain cancer 784
                supratentorial cancer 511
                  cerebrum cancer 458
                    malignant astrocytoma 454
                      astroblastoma 291
                        Primitive Neuroectodermal Tumors 199
                          Primitive Peripheral Neuroectodermal Tumors 96
                            Neuroblastic Tumor 95
                              neuroblastoma 95
                                Megalencephaly-Polydactyly Syndrome 1
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