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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
For additional species annotation, visit the Alliance of Genome Resources.


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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:7240710
RGD:8554872
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 15503
    sensory system disease 4666
      skin disease 2495
        vascular skin disease 149
          Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal dominant disease 2244
                complex cortical dysplasia with other brain malformations 495
                  Malformations of Cortical Development, Group I 350
                    Macrocephaly 54
                      Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.