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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: OMIM: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 v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    Developmental Disease 13809
      Neurodevelopmental Disorders 6904
        Ventriculomegaly 14
          Megalencephaly-Polydactyly Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      cancer 5523
        organ system cancer 5290
          nervous system cancer 965
            central nervous system cancer 781
              brain cancer 765
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        Primitive Neuroectodermal Tumors 199
                          Primitive Peripheral Neuroectodermal Tumors 95
                            Neuroblastic Tumor 94
                              neuroblastoma 94
                                Megalencephaly-Polydactyly Syndrome 1
paths to the root