Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 2
go back to main search page
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


show annotations for term's descendants           Sort by:
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 chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813 		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 chr 1:217,640,005...218,081,158 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 chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166 		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 chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 54
        Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10253
            autosomal genetic disease 9439
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 54
                    Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 6
paths to the root