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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 1
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Accession:DOID:9009086 term browser browse the term
Synonyms:exact_synonym: MPPH1;   PIK3R2-RELATED CONDITION
 primary_id: MIM:603387
 xref: NCI:C202114


show annotations for term's descendants           Sort by:
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 chr16:19,225,058...19,235,479
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 chr16:18,635,883...18,640,019
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 chr16:19,308,247...19,314,910
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 chr16:18,600,737...18,606,556
Ensembl chr16:18,566,745...18,572,564 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,131,271...19,146,480
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 chr16:19,081,172...19,089,548
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 chr16:19,148,832...19,159,052
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 chr16:18,958,695...18,970,026
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 chr16:19,022,171...19,080,880
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 chr16:19,159,353...19,167,003
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 chr16:18,877,751...18,925,449
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 chr16:18,929,581...18,936,621
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 chr16:19,131,271...19,146,480
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 chr16:18,838,436...18,842,022
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 chr16:19,166,141...19,176,701
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 chr16:18,709,570...18,713,635
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 chr16:18,654,207...18,668,887
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 chr16:18,432,668...18,434,539
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 chr16:18,750,492...18,766,184
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 chr16:18,873,119...18,876,116
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 chr16:18,418,807...18,432,515
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 chr16:18,768,093...18,769,771
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 chr16:18,608,782...18,632,571
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 chr16:18,986,095...19,011,297
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 chr16:18,929,316...18,950,239
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 chr16:18,840,867...18,847,722
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 chr16:18,789,466...18,795,164
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 chr16:18,670,742...18,699,252
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 chr16:19,286,951...19,305,547
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 chr16:18,713,690...18,718,191
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 chr16:19,322,395...19,324,912
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 chr16:18,724,703...18,745,528
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 chr16:18,804,408...18,817,466
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 | ClinVar Annotator: match by term: PIK3R2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr16:18,699,389...18,708,045
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 chr16:18,718,164...18,722,273
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 chr16:18,956,023...18,958,494
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 chr16:19,314,307...19,322,827
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 chr16:18,576,467...18,578,653
Ensembl chr16:18,542,566...18,545,546
Ensembl chr 1:18,542,566...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 chr16:19,247,874...19,286,598
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 chr16:18,580,705...18,590,692
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 chr16:18,862,007...18,872,917
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 chr16:19,193,910...19,225,364
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 chr16:19,272,433...19,282,173
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 chr16:18,975,217...18,979,354
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 chr16:18,952,583...18,954,780
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 chr16:19,110,531...19,131,327
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 48
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 48
paths to the root