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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:hereditary hemorrhagic telangiectasia
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Accession:DOID:1270 term browser browse the term
Definition:An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Synonyms:exact_synonym: HHT;   ORW Disease;   Osler Rendu Disease;   Osler Rendu Weber Disease;   Osler Weber Rendu syndrome;   Osler disease;   Osler's disease;   Rendu Osler Weber;   Weber Osler;   hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber
 related_synonym: OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME
 primary_id: MESH:D013683
 xref: GARD:6626;   ICD10CM:I78.0;   ICD9CM:448.0;   NCI:C35064;   OMIM:PS187300;   ORDO:774
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 PMID:28492532 More... RGD:1300352 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin no_association ISO HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
RGD
PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 More... RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
ClinVar
OMIM
RGD
PMID:2601709 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 More... RGD:11041166 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 2
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II
ClinVar Annotator: match by OMIM:600376
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 2
DNA:nonsense mutation:cds:145del(human)
DNA:deletion, insertion and missense mutations:exons:
DNA:mutations:
OMIM
ClinVar
RGD
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 ClinVar PMID:11865300 PMID:15879500 PMID:19763152 PMID:20307669 PMID:21398687 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
ClinVar Annotator: match by OMIM:615506
OMIM
ClinVar
PMID:23972370 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 More... NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by OMIM:175050
OMIM
ClinVar
RGD
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11062720, RGD:11070199 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      hematopoietic system disease 1914
        hemorrhagic disease 641
          vascular hemostatic disease 318
            hereditary hemorrhagic telangiectasia 12
              Hereditary Hemorrhagic Telangiectasia, Type 1 4
              Hereditary Hemorrhagic Telangiectasia, Type 2 3
              Hereditary Hemorrhagic Telangiectasia, Type 3 0
              Hereditary Hemorrhagic Telangiectasia, Type 4 0
              Hereditary Hemorrhagic Telangiectasia, Type 5 1
              juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                hereditary hemorrhagic telangiectasia 12
                  Hereditary Hemorrhagic Telangiectasia, Type 1 4
                  Hereditary Hemorrhagic Telangiectasia, Type 2 3
                  Hereditary Hemorrhagic Telangiectasia, Type 3 0
                  Hereditary Hemorrhagic Telangiectasia, Type 4 0
                  Hereditary Hemorrhagic Telangiectasia, Type 5 1
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root