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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: Facies (D019066)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
..Starting node ..Ectrodactyly cardiopathy dysmorphism (C536187)
Child Nodes:
Sister Nodes:
..Corneodermatoosseous syndrome (C536444)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Familial streblodactyly (C536852)
..Foot Deformities, Congenital (D005532) 78
..Holt-Oram syndrome (C535326)
..Merlob Grunebaum Reisner syndrome (C537461)
..Mermaid syndrome (C538595)
..Nasodigitoacoustic syndrome (C538337)
..Popliteal Pterygium Syndrome (C562509)
..Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum (C563787)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3637
Name:	Ectrodactyly cardiopathy dysmorphism
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D019066\|MESH:D038061
TreeNumbers:	C05.660.585.512/C536187 \|C14.240.400/C536187 \|C14.280.400/C536187 \|C16.131.077/C536187 \|C16.131.240.400/C536187 \|C16.131.621.585.512/C536187 \|C23.550.291.812/C536187
Synonyms:	Ectrodactyly of lower limbs, congenital heart defect and characteristic facies \|Van Den Ende Brunner syndrome
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Musculoskeletal disease\|Pathology (process)
Reference:	MedGen: C536187 MeSH: C536187 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants