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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


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FINCA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004775 ATAC-STARR-seq lymphoblastoid silent region 2838 IAGP ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis ClinVar PMID:25741868 PMID:37188825 NCBI chr10:113,854,771...113,855,130 JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis ClinVar
OMIM		 PMID:25741868 PMID:29423877 PMID:30138417 PMID:30239752 PMID:32435055 More... NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
Klippel-Trenaunay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G GNAQ G protein subunit alpha q IAGP ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar 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
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar PMID:18829572 PMID:22228622 PMID:22729224 PMID:22949682 PMID:23246288 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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 IAGP ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G FN1 fibronectin 1 IEP mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GNAQ G protein subunit alpha q IAGP
EXP		 ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G CCND1 cyclin D1 susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI 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 IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,120,032...10,138,833 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 Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome		 ClinVar PMID:982991 PMID:1056348 PMID:2844285 PMID:7553625 PMID:7563486 More... 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 SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032 		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...20,183,136
Ensembl chr 8:20,144,855...20,183,206 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
ISS
EXP		 ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		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 IAGP ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        vascular disease 3857
          Angiomatosis 21
            Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert 0
            FINCA Syndrome 2
            Familial Capillaro-Venous Leptomeningeal Angiomatosis 0
            Hapnes Boman Skeie Syndrome 0
            Klippel-Trenaunay syndrome 4
            Pseudoangiomatous Stromal Hyperplasia 0
            Sturge-Weber syndrome + 8
            bacillary angiomatosis 0
            breast angiomatosis + 0
            von Hippel-Lindau disease 10
paths to the root