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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:Angiomatosis
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Accession:DOID:9004079 term browser browse the term
Definition:A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic.
Synonyms:exact_synonym: Angiomatoses
 primary_id: MESH:D000798;   RDO:0001144
For additional species annotation, visit the Alliance of Genome Resources.


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FINCA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc2 NHL repeat containing 2 ISO ClinVar Annotator: match by term: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS ClinVar
OMIM
PMID:29423877, PMID:30138417, PMID:30239752 NCBI chr 1:277,355,619...277,415,940
Ensembl chr 1:277,355,619...277,415,907
JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23656586, PMID:25188413, PMID:25741868 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by OMIM:608355
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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 ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569, PMID:11459873, PMID:12097293, PMID:23502783, PMID:24870244 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:22,358,646...22,395,183
Ensembl chr16:22,361,998...22,395,183
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by OMIM:193300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by null ClinVar PMID:24375697 NCBI chr15:109,338,762...109,394,905
Ensembl chr15:109,339,564...109,394,927
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          Angiomatosis 13
            Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert 0
            FINCA Syndrome 1
            Familial Capillaro-Venous Leptomeningeal Angiomatosis 0
            Hapnes Boman Skeie Syndrome 0
            Klippel-Trenaunay syndrome + 0
            Pseudoangiomatous Stromal Hyperplasia 0
            Sturge-Weber syndrome + 7
            bacillary angiomatosis 0
            breast angiomatosis + 0
            von Hippel-Lindau disease 5
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.