Ontology Browser

Term:
hereditary hemorrhagic telangiectasia (DOID:1270)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7)
Parent Terms Term With Siblings Child Terms
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
advanced sleep phase syndrome +   
age related macular degeneration +   
Alexander Disease  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
arterial tortuosity syndrome  
Arterio-Arterial Fistula +  
arteriovenous malformation +   
ataxia telangiectasia +   
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant Parkinson's disease 1  
autosomal dominant Parkinson's disease 22  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
Axenfeld-Rieger syndrome +   
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
CADASIL 1  
CADASIL 2  
campomelic dysplasia +   
Carney complex +   
cavernous hemangioma +   
Central Nervous System Vascular Malformations +   
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
cherubism +   
Clouston syndrome  
CLOVES syndrome  
Congenital Capillary Malformations +   
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Costello syndrome  
Cowden syndrome +   
CREST syndrome  
Crouzon syndrome-acanthosis nigricans syndrome  
cryoglobulinemia +   
Culler-Jones syndrome  
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Marmorata Telangiectatica Congenita 
Denys-Drash syndrome  
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
EEC syndrome +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa simplex generalized type  
epidermolysis bullosa simplex localized type  
Epilepsy Telangiectasia 
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Feingold syndrome +   
Frasier syndrome  
Frenkel Russe Syndrome 
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Hemophilia A with Vascular Abnormality 
Henoch-Schoenlein purpura +   
Hereditary Benign Telangiectasia 
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
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.
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
Holt-Oram syndrome  
hyperglobulinemic purpura 
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
ichthyosis vulgaris +   
IMMUNODEFICIENCY 31C  
iridogoniodysgenesis syndrome +   
juvenile glaucoma  
juvenile polyposis syndrome +   
LADD syndrome  
Larsen syndrome  
LEOPARD syndrome +   
Li-Fraumeni syndrome +   
Loeys-Dietz syndrome +   
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
May-Thurner Syndrome 
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Meier-Gorlin syndrome 6  
Microcephaly-Capillary Malformation Syndrome  
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple myeloma +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
ocular albinism with sensorineural deafness  
Opitz GBBB Syndrome, Type II  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
PAPA syndrome  
paraganglioma +   
Patent Ductus Venosus 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
photosensitive trichothiodystrophy +   
piebaldism +   
polycystic liver disease +   
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
proximal symphalangism  
pseudoxanthoma elasticum +   
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  
Pulmonary Atresia +   
punctate palmoplantar keratoderma type III 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Retinal Arteries, Tortuosity of  
retinal telangiectasia +   
Reynolds Syndrome  
Rubinstein-Taybi syndrome +   
SADDAN  
scimitar syndrome +   
scurvy  
Shwartzman phenomenon  
Single Umbilical Artery 
Splenoportal Vascular Anomalies 
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Stickler syndrome +   
tarsal-carpal coalition syndrome  
Tietz syndrome  
Timothy syndrome  
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Vascular Fistula +   
Vascular Malformation, Primary Intraosseous  
Waardenburg's syndrome +   
Waldenstroem's macroglobulinemia  

Synonyms
Exact Synonyms: HHT ;   Osler Disease ;   Osler Rendu Disease ;   Osler Rendu Weber Disease ;   Osler Weber Rendu syndrome ;   Osler's Disease ;   Rendu Osler Weber ;   Weber Osler ;   hereditary hemorrhagic telangiectasia, of Rendu, Osler, and Weber
Related Synonyms: OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME
Primary IDs: MESH:D013683
Alternate IDs: RDO:0002917
Xrefs: GARD:6626 ;   OMIM:PS187300 ;   ORDO:774
Definition Sources: MESH:D013683, http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, http://www.ncbi.nlm.nih.gov/books/NBK1351/

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.