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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 Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATIONS ClinVar
OMIM
PMID:23656586, PMID:25188413, PMID:25741868 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        Cardiovascular Abnormalities 1129
          Vascular Malformations 76
            familial multiple nevi flammei 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              Port-Wine Stain 6
                familial multiple nevi flammei 1
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.