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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;   VASCULAR MALFORMATIONS AND OVERGROWTH;   megalencephaly-capillary malformation-polymicrogyria syndrome;   megalocephaly - cutis marmorata telangiectatica congenita
 primary_id: MESH:C536142
 alt_id: MIM:602501
 xref: EFO:0009146


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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: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum OMIM
ClinVar		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Vascular Malformations and Overgrowth ClinVar PMID:25741868 PMID:34040190 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly cutis marmorata telangiectatica congenita ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,699,448...18,709,665 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:24469055 PMID:25741868 PMID:28492532 NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        vascular skin disease 251
          Megalencephaly - Cutis Marmorata Telangiectatica Congenita 5
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Nervous System Malformations 2471
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group I 1397
                Macrocephaly 97
                  Megalencephaly - Cutis Marmorata Telangiectatica Congenita 5
paths to the root