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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: Abnormalities, Multiple (D000015)
Parent Node: Megalencephaly (D058627)
Parent Node: Skin Diseases, Vascular (D017445)
Parent Node: Telangiectasis (D013684)
..Starting node ..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
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:	6894
Name:	Megalencephaly cutis marmorata telangiectatica congenita
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D013684\|MESH:D017445\|MESH:D058627
TreeNumbers:	C05.660.207.536/C536142 \|C10.500.507.400.249/C536142 \|C14.907.823/C536142 \|C16.131.077/C536142 \|C16.131.621.207.532/C536142 \|C16.131.666.507.400.249/C536142 \|C17.800.862/C536142
Synonyms:	Macrocephaly-Capillary Malformation \|Macrocephaly cutis marmorata telangiectatica congenita \|Macrocephaly-Cutis Marmorata Telangiectatica Congenita \|Megalencephaly-Cutis Marmorata Telangiectatica Congenita \|Megalocephaly cutis marmorata telangiectatica conge
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Musculoskeletal disease\|Nervous system disease\|Skin disease
Reference:	MedGen: C536142 MeSH: C536142 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants