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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 chr 8:70,672,822...70,687,099
Ensembl chr 8:70,672,822...70,687,116 		JBrowse link
G Arrdc2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,287,773...71,293,173
Ensembl chr 8:71,287,773...71,292,364 		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 chr 8:70,592,149...70,601,285
Ensembl chr 8:70,592,149...70,599,969 		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 chr 8:71,320,870...71,326,134
Ensembl chr 8:71,320,871...71,326,579 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716 		JBrowse link
G Cope coatomer protein complex, subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,755,417...70,765,652
Ensembl chr 8:70,755,168...70,765,643 		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 chr 8:70,945,798...70,956,728
Ensembl chr 8:70,945,808...70,956,731 		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 chr 8:70,835,002...70,892,720
Ensembl chr 8:70,835,005...70,892,229 		JBrowse link
G Ddx49 DEAD box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,745,516...70,755,121
Ensembl chr 8:70,745,516...70,755,139 		JBrowse link
G Ell elongation factor RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,992,345...71,045,508
Ensembl chr 8:70,992,107...71,045,508 		JBrowse link
G Fkbp8 FK506 binding protein 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,980,371...70,987,978
Ensembl chr 8:70,980,374...70,987,978 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
G Homer3 homer scaffolding protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G Ifi30 interferon gamma inducible protein 30 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,215,418...71,219,307
Ensembl chr 8:71,215,419...71,219,307 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:72,141,896...72,143,221
Ensembl chr 8:72,141,858...72,143,219 		JBrowse link
G Iqcn IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,154,661...71,170,299
Ensembl chr 8:71,156,106...71,170,299 		JBrowse link
G Isyna1 myo-inositol 1-phosphate synthase A1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jund jun D proto-oncogene ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265 		JBrowse link
G Kcnn1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,295,802...71,318,335
Ensembl chr 8:71,294,693...71,315,902 		JBrowse link
G Klhl26 kelch-like 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,902,868...70,929,660
Ensembl chr 8:70,902,869...70,929,618 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606 		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 chr 8:71,068,810...71,073,501
Ensembl chr 8:71,068,805...71,074,133 		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 chr 8:71,124,663...71,131,402
Ensembl chr 8:71,125,898...71,131,402 		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 chr 8:71,230,761...71,257,681
Ensembl chr 8:71,230,761...71,257,698 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,605,411...70,620,138
Ensembl chr 8:70,592,361...70,620,138 		JBrowse link
G Mpv17l2 MPV17 mitochondrial membrane protein-like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,211,295...71,213,589
Ensembl chr 8:71,211,295...71,213,592 		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 chr 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399 		JBrowse link
G Pde4c phosphodiesterase 4C, cAMP specific ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,176,485...71,203,835
Ensembl chr 8:71,176,369...71,203,835 		JBrowse link
G Pgpep1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,099,086...71,113,096
Ensembl chr 8:71,099,085...71,113,038 		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 chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		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 chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323 		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 chr 8:70,956,945...70,959,402
Ensembl chr 8:70,956,942...70,959,402 		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 chr 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,347,366...71,350,087
Ensembl chr 8:71,347,366...71,350,056 		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 chr 8:70,636,990...70,664,931
Ensembl chr 8:70,636,990...70,664,955 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		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 chr 8:71,050,135...71,061,084
Ensembl chr 8:71,050,140...71,061,522 		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 chr 8:70,686,838...70,715,755
Ensembl chr 8:70,686,876...70,732,565 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,624,979...70,636,331
Ensembl chr 8:70,625,006...70,636,331 		JBrowse link
G Tmem59l transmembrane protein 59-like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,936,505...70,939,998
Ensembl chr 8:70,936,517...70,940,008 		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 chr 8:70,960,913...70,963,067
Ensembl chr 8:70,960,913...70,963,451 		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 chr 8:70,784,143...70,806,418
Ensembl chr 8:70,784,175...70,805,928 		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 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    syndrome 10905
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 48
Path 2
Term Annotations click to browse term
  disease 16268
    Developmental Disease 14084
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13140
        genetic disease 12834
          monogenic disease 10952
            autosomal genetic disease 10470
              autosomal dominant disease 6812
                complex cortical dysplasia with other brain malformations 1656
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 66
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 48
paths to the root