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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: Lower Extremity Deformities, Congenital (D038061)
..Starting node ..Merlob Grunebaum Reisner syndrome (C537461)
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:	7085
Name:	Merlob Grunebaum Reisner syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D038061
TreeNumbers:	C05.660.585.512/C537461 \|C16.131.621.585.512/C537461
Synonyms:
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C537461 MeSH: C537461 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants