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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: Calcinosis (D002114)
Parent Node: Esophageal Motility Disorders (D015154)
Parent Node: Raynaud Disease (D011928)
Parent Node: Scleroderma, Limited (D045745)
Parent Node: Telangiectasis (D013684)
..Starting node ..CREST Syndrome (D017675)
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:	2852
Name:	CREST Syndrome
Definition:	A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
Alternative IDs:
ParentIDs:	MESH:D002114\|MESH:D011928\|MESH:D013684\|MESH:D015154\|MESH:D045745
TreeNumbers:	C06.405.117.119.500.204 \|C14.907.617.812.500 \|C14.907.823.225 \|C17.300.799.801.500 \|C17.800.784.801.500 \|C18.452.174.130.204
Synonyms:	Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia \|Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia \|Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome \|CREST Syndromes \|CRST Syndrome \|CRST Synd
Slim Mappings:	Cardiovascular disease\|Connective tissue disease\|Digestive system disease\|Metabolic disease\|Skin disease
Reference:	MedGen: D017675 MeSH: D017675 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants