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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:Livedo Reticularis
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Accession:DOID:9001467 term browser browse the term
Definition:A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.
Synonyms:primary_id: MESH:D054068;   RDO:0007650
For additional species annotation, visit the Alliance of Genome Resources.



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Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature OMIM
ClinVar
PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI OMIM
ClinVar
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      skin disease 3782
        vascular skin disease 164
          Livedo Reticularis 12
            Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
            Familial Thoracic Aortic Aneurysm 6 11
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          skin disease 3782
            vascular skin disease 164
              Livedo Reticularis 12
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
                Familial Thoracic Aortic Aneurysm 6 11
paths to the root