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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:familial multiple nevi flammei
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Accession:DOID:0111529 term browser browse the term
Definition:A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)
Synonyms:exact_synonym: CMAL;   CMC;   Congenital Capillary Malformations;   capillary malformations;   congenital capillary malformations, 1;   familial multiple port-wine stains;   port-wine stain familial multiple
 primary_id: MESH:C535816;   MESH:C562760
 alt_id: DOID:9006628;   OMIM:163000
 xref: GARD:3986;   ORDO:624


show annotations for term's descendants           Sort by:
familial multiple nevi flammei term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:25741868 PMID:27476652 NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        Cardiovascular Abnormalities 1545
          Vascular Malformations 126
            familial multiple nevi flammei 3
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Skin Abnormalities 1296
                Port-Wine Stain 9
                  familial multiple nevi flammei 3
paths to the root