ONTOLOGY REPORT - ANNOTATIONS


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;   Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome;   Megalocephaly cutis marmorata telangiectatica congenita;   PIK3CA Related Overgrowth Spectrum
 primary_id: MESH:C536142;   RDO:0001596
 alt_id: OMIM:602501
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Megalencephaly Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:7240710
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      skin disease 2253
        vascular skin disease 135
          Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                Macrocephaly 58
                  Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.