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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
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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


show annotations for term's descendants           Sort by:
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME		 CTD
ClinVar		 PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047 		JBrowse link
G Arrdc2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,601,897...18,606,029
Ensembl chr16:18,601,897...18,606,029 		JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339 		JBrowse link
G Ccdc124 coiled-coil domain containing 124 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,566,745...18,572,564
Ensembl chr16:18,566,745...18,572,564 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,114,871...19,125,527
Ensembl chr16:19,114,871...19,128,907 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,988,197...19,046,913
Ensembl chr16:18,988,250...19,043,381 		JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616 		JBrowse link
G Ell elongation factor for RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,845,025...18,891,484
Ensembl chr16:18,843,780...18,891,118 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055 		JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G Ifi30 IFI30, lysosomal thiol reductase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,675,651...18,679,857
Ensembl chr16:18,675,613...18,681,175 		JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769 		JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560 		JBrowse link
G Iqcn IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799 		JBrowse link
G Kcnn1 potassium calcium-activated channel subfamily N member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,574,858...18,597,780
Ensembl chr16:18,585,992...18,597,482 		JBrowse link
G Klhl26 kelch-like family member 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,952,123...18,977,328
Ensembl chr16:18,952,234...18,977,328 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G Lrrc25 leucine rich repeat containing 25 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,806,888...18,813,726
Ensembl chr16:18,806,890...18,813,671 		JBrowse link
G Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926 		JBrowse link
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967 		JBrowse link
G Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,680,106...18,684,212
Ensembl chr16:18,681,826...18,684,212 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Pde4c phosphodiesterase 4C ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,690,727...18,711,555
Ensembl chr16:18,691,700...18,710,640 		JBrowse link
G Pgpep1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,770,563...18,782,968
Ensembl chr16:18,771,021...18,783,478 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336 		JBrowse link
G Rex1bd required for excision 1-B domain containing ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,921,524...18,924,526
Ensembl chr16:18,922,037...18,924,526 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,542,572...18,544,578
Ensembl chr16:18,542,566...18,545,546 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Ssbp4 single stranded DNA binding protein 4 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,828,014...18,838,941
Ensembl chr16:18,828,054...18,838,947 		JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087 		JBrowse link
G Tmem59l transmembrane protein 59-like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381 		JBrowse link
G Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226 		JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Spmip3 sperm associated microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:89,439,633...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
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: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar		 PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 54
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            autosomal genetic disease 9299
              autosomal dominant disease 6170
                complex cortical dysplasia with other brain malformations 1575
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 54
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
paths to the root