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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 - Cutis Marmorata Telangiectatica Congenita
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Accession:DOID:9002647 term browser browse the term
Synonyms:exact_synonym: MCAP;   MCM;   MCMTC;   Macrocephaly cutis marmorata telangiectatica congenita;   Macrocephaly-Capillary Malformation;   PIK3CA-related overgrowth spectrum;   megalencephaly-capillary malformation-polymicrogyria syndrome;   megalocephaly - cutis marmorata telangiectatica congenita
 primary_id: MESH:C536142
 alt_id: OMIM:602501
For additional species annotation, visit the Alliance of Genome Resources.

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Megalencephaly - Cutis Marmorata Telangiectatica Congenita 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: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: PIK3CA Related Overgrowth Spectrum
ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome		 OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... 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 ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      skin disease 2954
        vascular skin disease 155
          Megalencephaly - Cutis Marmorata Telangiectatica Congenita 3
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      Megalencephaly - Cutis Marmorata Telangiectatica Congenita 3
paths to the root