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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.


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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
PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 PMID:28492532, PMID:15024723 RGD:1300352 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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
PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12673790 PMID:12786761 PMID:12920067 PMID:15024723 PMID:15115879 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16525724 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20135064 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22722545 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:27146957 PMID:28166811 PMID:28231770 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29305977 PMID:29743074 PMID:30029678 PMID:30120215 PMID:30578397 PMID:31400083 PMID:31727138 PMID:32573726 PMID:32581362, PMID:7894484, PMID:16752392, PMID:10899246, PMID:10562296, PMID:9245986, PMID:15375013, PMID:15024723 RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26387786 PMID:28492532 PMID:31220907 PMID:32573726 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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
PMID:2601709 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:12673790 PMID:12786761 PMID:12920067 PMID:14684682 PMID:15024723 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16525724 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23722869 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:28166811 PMID:28231770 PMID:28492532 PMID:29171923 PMID:29305977 PMID:30029678 PMID:30251589 PMID:30374176 PMID:31727138 PMID:32573726 PMID:32581362, PMID:15907823 RGD:11041166 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16861286 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18498373 PMID:18673552 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22028876 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:27291782 PMID:27316748 PMID:27630060 PMID:28166811 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29449337 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30244195 PMID:31220907 PMID:31327192 PMID:31727138 PMID:32165824 PMID:32573726 PMID:32581362, PMID:18543223, PMID:17219009, PMID:12588795, PMID:16752392 RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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 PMID:32573726 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
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
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20685751 PMID:21465659 PMID:21572342 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24465802 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25931195 PMID:25980754 PMID:26467025 PMID:26572829 PMID:26619011 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28655553 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30809044 PMID:30842500 PMID:31159747 PMID:32573726, PMID:20101697, PMID:15031030 RGD:11062720, RGD:11070199 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      hematopoietic system disease 1757
        hemorrhagic disease 629
          vascular hemostatic disease 309
            hereditary hemorrhagic telangiectasia 6
              Hereditary Hemorrhagic Telangiectasia, Type 1 4
              Hereditary Hemorrhagic Telangiectasia, Type 2 2
              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 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                hereditary hemorrhagic telangiectasia 6
                  Hereditary Hemorrhagic Telangiectasia, Type 1 4
                  Hereditary Hemorrhagic Telangiectasia, Type 2 2
                  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