TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER

http://purl.bioontology.org/ontology/OMIM/187300

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER

HHT

HHT1

OSLER-RENDU-WEBER DISEASE

ORW DISEASE

C0039445

C4551861

9q34.1

END

HHT1

ORW

ENG

http://purl.bioontology.org/ontology/OMIM/MTHU006474

http://purl.bioontology.org/ontology/OMIM/MTHU006471

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU037166

http://purl.bioontology.org/ontology/OMIM/MTHU037164

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU000103

http://purl.bioontology.org/ontology/OMIM/MTHU000125

http://purl.bioontology.org/ontology/OMIM/MTHU000097

http://purl.bioontology.org/ontology/OMIM/MTHU000111

http://purl.bioontology.org/ontology/OMIM/MTHU000095

http://purl.bioontology.org/ontology/OMIM/MTHU015336

http://purl.bioontology.org/ontology/OMIM/MTHU015338

http://purl.bioontology.org/ontology/OMIM/MTHU006477

http://purl.bioontology.org/ontology/OMIM/MTHU004223

http://purl.bioontology.org/ontology/OMIM/MTHU000123

http://purl.bioontology.org/ontology/OMIM/MTHU000121

http://purl.bioontology.org/ontology/OMIM/MTHU015340

http://purl.bioontology.org/ontology/OMIM/MTHU006472

http://purl.bioontology.org/ontology/OMIM/MTHU036748

http://purl.bioontology.org/ontology/OMIM/MTHU006470

http://purl.bioontology.org/ontology/OMIM/MTHU006479

http://purl.bioontology.org/ontology/OMIM/MTHU034644

http://purl.bioontology.org/ontology/OMIM/MTHU006480

http://purl.bioontology.org/ontology/OMIM/MTHU037163

http://purl.bioontology.org/ontology/OMIM/MTHU037167

http://purl.bioontology.org/ontology/OMIM/MTHU000100

http://purl.bioontology.org/ontology/OMIM/MTHU037165

http://purl.bioontology.org/ontology/OMIM/MTHU036837

http://purl.bioontology.org/ontology/OMIM/MTHU000116

http://purl.bioontology.org/ontology/OMIM/MTHU000118

http://purl.bioontology.org/ontology/OMIM/MTHU000112

http://purl.bioontology.org/ontology/OMIM/MTHU000098

http://purl.bioontology.org/ontology/OMIM/MTHU015339

http://purl.bioontology.org/ontology/OMIM/MTHU000096

http://purl.bioontology.org/ontology/OMIM/MTHU000120

http://purl.bioontology.org/ontology/OMIM/MTHU000124

http://purl.bioontology.org/ontology/OMIM/MTHU037132

http://purl.bioontology.org/ontology/OMIM/MTHU015337

Phenotype description, molecular basis known.

187300

3

pound

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1

PAVMs occur more frequently in hereditary hemorrhagic telangiectasia 1 (HHT1) than HHT2 [MISCELLANEOUS]

Definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history) [MISCELLANEOUS]

Cutaneous telangiectases often not evident until 20-30 years of age [MISCELLANEOUS]

Genetic heterogeneity [MISCELLANEOUS]

Caused by mutation in the endoglin gene (ENG, 131195.0001) [MOLECULAR BASIS]

Incidence 1 in 5,000-8,000 [MISCELLANEOUS]

T047