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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:A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)
Synonyms:exact_synonym: HHT;   ORW Disease;   Osler Rendu Weber disease;   Osler Rendu disease;   Osler Weber Rendu syndrome;   Osler disease;   Osler's disease;   Rendu Osler Weber;   Weber Osler;   hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber
 narrow_synonym: PULMONARY ARTERIOVENOUS MALFORMATION
 related_synonym: OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME
 primary_id: MESH:D013683
 xref: GARD:6626;   ICD10CM:I78.0;   ICD9CM:448.0;   MIM:PS187300;   NCI:C35064;   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
ISS		 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 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
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Pulmonary arteriovenous malformation ClinVar NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		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
Ensembl chr 3:15,856,182...15,869,165
Ensembl chr 3:15,856,182...15,869,165 		JBrowse link
G Eng endoglin no_association ISO
ISS		 HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
MouseDO
CTD
RGD		 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 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 Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons:
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 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 3:15,894,275...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: Telangiectasia, hereditary hemorrhagic, 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: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar
OMIM
RGD		 PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 More... RGD:11041166 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 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 DNA:nonsense mutation:cds:145del(human)
DNA:deletion, insertion and missense mutations:exons:
DNA:mutations:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2		 OMIM
CTD
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
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 OMIM
ClinVar		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 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: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple		 OMIM
ClinVar
CTD
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 19100
    disease of anatomical entity 18440
      cardiovascular system disease 5538
        Cardiovascular Abnormalities 1604
          Vascular Malformations 130
            hereditary hemorrhagic telangiectasia 15
              Hereditary Hemorrhagic Telangiectasia, Type 1 5
              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 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                hereditary hemorrhagic telangiectasia 15
                  Hereditary Hemorrhagic Telangiectasia, Type 1 5
                  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