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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:capillary disease
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Accession:DOID:1271 term browser browse the term
Definition:A vascular disease that is located_in the capillaries. (DO)
Synonyms:exact_synonym: disease of capillaries
 primary_id: RDO:9002798
 xref: ICD10CM:I78;   ICD9CM:448
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
JBrowse link
G KDR kinase insert domain receptor ISO OMIM NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
capillary leak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PON1 paraoxonase 1 susceptibility ISO DNA:snp:intron:c.75-1136G>A (rs3917490) (human) RGD PMID:24808988 RGD:11553829 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
JBrowse link
familial multiple nevi flammei term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAQ G protein subunit alpha q ISO OMIM NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
gastric antral vascular ectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 ISO OMIM NCBI chr11:64,737,006...64,750,353 JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO OMIM NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      cardiovascular system disease 3301
        vascular disease 2376
          capillary disease 18
            breast angiomatosis + 0
            capillary hemangioma + 15
            capillary leak syndrome + 1
            capillary lymphangioma 0
            familial multiple nevi flammei 1
            gastric antral vascular ectasia + 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.