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ONTOLOGY REPORT - ANNOTATIONS


Term:Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
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Accession:DOID:9002186 term browser browse the term
Definition:An overgrowth syndrome comprising megalencephaly, hydrocephalus, polymicrogyria, and sometimes polydactyly. (OMIM)
Synonyms:exact_synonym: MPPH2;   megalancephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
 primary_id: OMIM:615937
 alt_id: RDO:9001230
For additional species annotation, visit the Alliance of Genome Resources.


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Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:7240710
RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G LOC689766 hypothetical protein LOC689766 JBrowse link 13 95,885,189 95,908,003 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 9
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                complex cortical dysplasia with other brain malformations 494
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 9
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.