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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: Dysgammaglobulinemia (D004406)
Parent Node: Epilepsy (D004827)
Parent Node: Intellectual Disability (D008607)
Parent Node: Telangiectasis (D013684)
..Starting node ..Epilepsy telangiectasia (C535497)
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:	3897
Name:	Epilepsy telangiectasia
Definition:
Alternative IDs:
ParentIDs:	MESH:D004406\|MESH:D004827\|MESH:D008607\|MESH:D013684
TreeNumbers:	C10.228.140.490/C535497 \|C10.597.606.643/C535497 \|C14.907.823/C535497 \|C15.378.147.333/C535497 \|C20.673.430/C535497 \|C23.888.592.604.646/C535497 \|F03.550.600/C535497
Synonyms:	Epilepsy-Telangiectasia
Slim Mappings:	Blood disease\|Cardiovascular disease\|Immune system disease\|Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535497 MeSH: C535497 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants