Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Ectromelia (D004480)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
..Starting node ..Mermaid syndrome (C538595)
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:	7086
Name:	Mermaid syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004480\|MESH:D038061
TreeNumbers:	C05.660.585.350/C538595 \|C05.660.585.512/C538595 \|C16.131.621.585.350/C538595 \|C16.131.621.585.512/C538595
Synonyms:	Fused legs and feet \|Mermaid malformation \|Sirenomelia sequence \|Sirenomelus
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C538595 MeSH: C538595 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants