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



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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 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATIONS
ClinVar Annotator: match by term: Familial multiple nevi flammei
ClinVar
OMIM
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:22658544 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 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 17445
    disease of anatomical entity 16777
      cardiovascular system disease 4542
        Cardiovascular Abnormalities 1141
          Vascular Malformations 83
            familial multiple nevi flammei 3
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            Skin Abnormalities 773
              Port-Wine Stain 9
                familial multiple nevi flammei 3
paths to the root