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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Telangiectasis (D013684)
..Starting node ..Telangiectasia, Hereditary Benign (C562908)
Child Nodes:
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10899

Name:

Telangiectasia, Hereditary Benign

Definition:

Alternative IDs:

OMIM:187260

ParentIDs:

MESH:D013684

TreeNumbers:

C14.907.823/C562908

Synonyms:

HBT |TELANGIECTASIA, GENERALIZED ESSENTIAL

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: C562908
MeSH: C562908
OMIM: 187260;

Genes: TELAB1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0007489	Diffuse telangiectasia

Disease Causing ClinVar Variants