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: Varicose Ulcer
Accession: DOID:9004272
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Definition: Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg.
Synonyms: exact_synonym: Stasis Ulcer; Stasis Ulcers; Varicose Ulcers; Venous Hypertension Ulcer; Venous Hypertension Ulcers; Venous Stasis Ulcer; Venous Stasis Ulcers; Venous Ulcer; Venous Ulcers
primary_id: MESH:D014647
xref: EFO:1001923
G
Esr1
estrogen receptor 1
no_association
ISO
RGD
PMID:16153823
RGD:1626508
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
ISO
DNA:polymorphism:intron:(CA) dinucleotide repeat (human) DNA:SNPs:promoter, exon
RGD
PMID:16153823 PMID:18070128
RGD:1626508 , RGD:8553061
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Hfe
homeostatic iron regulator
susceptibility onset
ISO
associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)
RGD
PMID:16102632 PMID:16678024
RGD:1582685 , RGD:8694379
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Lepr
leptin receptor
ISO
mRNA:decreased expression:skin
RGD
PMID:22773832
RGD:10412021
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mbl2
mannose binding lectin 2
ISO
protein:decreased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr 1:228,016,439...228,024,736
G
Mir21
microRNA 21
ISO
miRNA:increased expression:skin:
RGD
PMID:22773832
RGD:10412021
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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