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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
 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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:16705692 PMID:20135064 PMID:21158752 PMID:25637381 PMID:25741868 More... RGD:1300352 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler-Rendu-Weber disease		 ClinVar PMID:7894484 PMID:8595426 PMID:9536098 PMID:9554745 PMID:10625079 More... NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G ENG endoglin no_association IAGP
ISS
EXP
ISO
IDA		 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
OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506
CTD Direct Evidence: marker/mechanism
DNA:mutations:
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:1580960, RGD:1300352 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G GDF2 growth differentiation factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SMAD4 SMAD family member 4 IAGP DNA:missense,frameshift, nonsense mutations:exons:
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:16613914 RGD:11035218 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G TNF tumor necrosis factor IEP protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1		 ClinVar PMID:7894484 PMID:9536098 PMID:9554745 PMID:10625079 PMID:10982033 More... NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G ENG endoglin IDA
IAGP		 ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1		 ClinVar
OMIM
RGD		 PMID:2601709 PMID:7894484 PMID:8162075 PMID:9245986 PMID:9366572 More... RGD:11041166 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TGFB1 transforming growth factor beta 1 IEP protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 IAGP
EXP
ISO		 DNA:nonsense mutation:cds:145del(human)
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
CTD Direct Evidence: marker/mechanism
DNA:deletion, insertion and missense mutations:exons:
DNA:mutations:		 ClinVar
CTD
OMIM
RGD		 PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G LOC130007932 ATAC-STARR-seq lymphoblastoid active region 6385 IAGP ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 ClinVar PMID:28492532 NCBI chr12:51,923,016...51,923,065 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 IAGP
EXP		 ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More... NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		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 IAGP
EXP		 DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
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		 ClinVar
CTD
OMIM
RGD		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11070199, RGD:11062720 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		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
        Cardiovascular Abnormalities 2110
          Vascular Malformations 142
            hereditary hemorrhagic telangiectasia 16
              Hereditary Hemorrhagic Telangiectasia, Type 1 6
              Hereditary Hemorrhagic Telangiectasia, Type 2 4
              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 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                hereditary hemorrhagic telangiectasia 16
                  Hereditary Hemorrhagic Telangiectasia, Type 1 6
                  Hereditary Hemorrhagic Telangiectasia, Type 2 4
                  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