ONTOLOGY REPORT - ANNOTATIONS


Term:Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
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Accession:DOID:9002403 term browser browse the term
Synonyms:exact_synonym: MPPH;   Meg-Pmg-Megacc Syndrome;   Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development;   Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
 narrow_synonym: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic
 primary_id: MESH:C566381
 alt_id: RDO:0014754
 xref: OMIM:PS603387
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Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 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:11554173
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:11554173
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
RGD:11554173
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:7240710
RGD:8554872
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 serologically defined colon cancer antigen 8 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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 9
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 2
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            cerebral degeneration 195
              hydrocephalus 91
                Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 9
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 2
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
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.