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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 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to ClinVar
OMIM
PMID:18931684 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,178...69,249,327
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to ClinVar
OMIM
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
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 IAGP DNA:snp:intron:c.75-1136G>A (rs3917490) (human) RGD PMID:24808988 RGD:11553829 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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 IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,008...10,152,220
Ensembl chr 3:10,141,008...10,152,220
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 IAGP ClinVar Annotator: match by term: CAPILLARY MALFORMATIONS ClinVar
OMIM
PMID:23656586, PMID:25188413, PMID:25741868 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr17:8,224,815...8,248,079
Ensembl chr17:8,224,815...8,248,056
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
Ensembl chr 8:133,237,175...133,302,022
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 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar
OMIM
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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 IAGP ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569, PMID:11459873, PMID:12097293, PMID:23502783, PMID:24870244 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:982991, PMID:1056348, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069849, PMID:8187067, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8550742, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9156047, PMID:9398721, PMID:9399847, PMID:9435426, PMID:9452032, PMID:9663592, PMID:9681856, PMID:9770531, PMID:9829911, PMID:9829912, PMID:10088816, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10581162, PMID:10587522, PMID:10761708, PMID:10766184, PMID:10878807, PMID:10900011, PMID:11058902, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11536052, PMID:11865071, PMID:11921283, PMID:11987242, PMID:12000816, PMID:12114495, PMID:12202531, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12510195, PMID:12538644, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15642664, PMID:15642680, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16572651, PMID:16809612, PMID:16969113, PMID:17001110, PMID:17024664, PMID:17060462, PMID:17102069, PMID:17264095, PMID:17350623, PMID:17640059, PMID:17661816, PMID:17967880, PMID:17992257, PMID:18205710, PMID:18209888, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19096585, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19270817, PMID:19304954, PMID:19309509, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19763184, PMID:19764026, PMID:19949673, PMID:19958924, PMID:20054297, PMID:20120764, PMID:20151405, PMID:20351605, PMID:20518900, PMID:20560986, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20952280, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21606165, PMID:21685897, PMID:21715564, PMID:21876117, PMID:21993671, PMID:22105611, PMID:22105711, PMID:22357542, PMID:22393103, PMID:22517557, PMID:22649785, PMID:22799452, PMID:23015148, PMID:23070752, PMID:23102223, PMID:23298237, PMID:23315997, PMID:23318261, PMID:23403324, PMID:23434161, PMID:23512077, PMID:23606570, PMID:23660872, PMID:23673869, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:24033266, PMID:24102379, PMID:24132471, PMID:24206762, PMID:24301059, PMID:24446253, PMID:24466223, PMID:24581539, PMID:24707167, PMID:24728327, PMID:24729484, PMID:24969085, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25720320, PMID:25741868, PMID:25867206, PMID:26206375, PMID:26503325, PMID:26580448, PMID:26763786, PMID:26822237, PMID:26845104, PMID:26920352, PMID:27146957, PMID:27439424, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27617348, PMID:28052007, PMID:28202063, PMID:28349240, PMID:28388566, PMID:28469506, PMID:28492532, PMID:28775317, PMID:28944243, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30338240, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31779674, PMID:32238909 NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,139
Ensembl chr 8:20,144,855...20,183,206
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
EXP
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:982991, PMID:1056348, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7759077, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069849, PMID:8187067, PMID:8239848, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8550742, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9143408, PMID:9156047, PMID:9209471, PMID:9215674, PMID:9329368, PMID:9398721, PMID:9399847, PMID:9435426, PMID:9452032, PMID:9663592, PMID:9671762, PMID:9681856, PMID:9751722, PMID:9770531, PMID:9829911, PMID:9829912, PMID:9880225, PMID:10088816, PMID:10102622, PMID:10205047, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10533030, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10581162, PMID:10587522, PMID:10612827, PMID:10627136, PMID:10697963, PMID:10761708, PMID:10766184, PMID:10823831, PMID:10878807, PMID:10900011, PMID:11058902, PMID:11106358, PMID:11114638, PMID:11171960, PMID:11257211, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11483638, PMID:11505222, PMID:11536052, PMID:11688398, PMID:11709017, PMID:11739384, PMID:11865071, PMID:11921283, PMID:11987242, PMID:12000816, PMID:12004076, PMID:12050673, PMID:12056827, PMID:12081237, PMID:12114475, PMID:12114495, PMID:12202531, PMID:12351569, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12500216, PMID:12510195, PMID:12538644, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:12853836, PMID:12912922, PMID:13985160, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15109448, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15611064, PMID:15642664, PMID:15642680, PMID:15881703, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16261165, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16502427, PMID:16505488, PMID:16572651, PMID:16669786, PMID:16775032, PMID:16809612, PMID:16847331, PMID:16868829, PMID:16884327, PMID:16952288, PMID:16969113, PMID:17001110, PMID:17024664, PMID:17060462, PMID:17102069, PMID:17102082, PMID:17102083, PMID:17264095, PMID:17350623, PMID:17406817, PMID:17407064, PMID:17526729, PMID:17640059, PMID:17661816, PMID:17688370, PMID:17906660, PMID:17919893, PMID:17922902, PMID:17967880, PMID:17992257, PMID:17997830, PMID:18205710, PMID:18209888, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19096585, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19258401, PMID:19270817, PMID:19280651, PMID:19293973, PMID:19304954, PMID:19309509, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19620968, PMID:19763184, PMID:19764026, PMID:19808854, PMID:19906784, PMID:19949673, PMID:19958924, PMID:19996202, PMID:20034980, PMID:20054297, PMID:20120764, PMID:20151405, PMID:20233476, PMID:20351605, PMID:20388653, PMID:20447124, PMID:20518900, PMID:20560986, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20850701, PMID:20855504, PMID:20952280, PMID:21204227, PMID:21258414, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21463266, PMID:21606165, PMID:21685897, PMID:21713522, PMID:21715564, PMID:21784903, PMID:21876117, PMID:21972040, PMID:21993671, PMID:22071692, PMID:22105611, PMID:22105711, PMID:22156657, PMID:22234250, PMID:22241717, PMID:22357542, PMID:22393103, PMID:22438210, PMID:22462637, PMID:22517557, PMID:22649785, PMID:22683710, PMID:22799452, PMID:22825683, PMID:23015148, PMID:23036577, PMID:23070752, PMID:23102223, PMID:23298237, PMID:23315997, PMID:23318261, PMID:23384228, PMID:23403324, PMID:23434161, PMID:23512077, PMID:23541568, PMID:23606570, PMID:23660872, PMID:23673869, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:23990664, PMID:23990666, PMID:24033266, PMID:24055113, PMID:24102379, PMID:24132471, PMID:24134185, PMID:24206762, PMID:24301059, PMID:24339559, PMID:24446253, PMID:24466223, PMID:24555745, PMID:24581539, PMID:24583008, PMID:24678776, PMID:24707167, PMID:24727139, PMID:24728327, PMID:24729484, PMID:24969085, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25282218, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25715769, PMID:25720320, PMID:25741868, PMID:25867206, PMID:25952756, PMID:25966224, PMID:25985138, PMID:26206375, PMID:26211615, PMID:26268347, PMID:26332594, PMID:26467025, PMID:26503325, PMID:26580448, PMID:26681312, PMID:26763786, PMID:26822237, PMID:26845104, PMID:26920352, PMID:26973240, PMID:27034144, PMID:27057652, PMID:27146957, PMID:27179072, PMID:27311873, PMID:27439424, PMID:27498913, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27617348, PMID:27651169, PMID:27730413, PMID:27785399, PMID:28052007, PMID:28202063, PMID:28349240, PMID:28379443, PMID:28388566, PMID:28454591, PMID:28469506, PMID:28492532, PMID:28503092, PMID:28643803, PMID:28775317, PMID:28873162, PMID:28944243, PMID:29124493, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29871882, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30311386, PMID:30338240, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31779674, PMID:32238909 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,008...10,152,220
Ensembl chr 3:10,141,008...10,152,220
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    disease of anatomical entity 17322
      cardiovascular system disease 3913
        vascular disease 2813
          capillary disease 19
            breast angiomatosis + 0
            capillary hemangioma + 16
            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.