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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: Skin Diseases, Vascular (D017445)
Parent Node: Telangiectasis (D013684)
..Starting node ..Cutis marmorata telangiectatica congenita (C536226)
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:

2909

Name:

Cutis marmorata telangiectatica congenita

Definition:

Alternative IDs:

ParentIDs:

MESH:D013684|MESH:D017445

TreeNumbers:

C14.907.823/C536226 |C17.800.862/C536226

Synonyms:

Hereditary cutis marmorata telangiectatica congenita

Slim Mappings:

Cardiovascular disease|Skin disease

Reference:

MedGen: C536226
MeSH: C536226
OMIM: 219250;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002979	Bowing of the legs
3	HP:0000965	Cutis marmorata
4	HP:0025107	Cutis marmorata telangiectatica congenita
5	HP:0000501	Glaucoma
6	HP:0000822	Hypertension
7	HP:0000555	Leukocoria
8	HP:0000541	Retinal detachment
9	HP:0006385	Short lower limbs
10	HP:0001009	Telangiectasia

Disease Causing ClinVar Variants