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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: Bone Diseases, Developmental (D001848)
Parent Node: Osteochondrosis (D055034)
..Starting node ..Blount disease (C536237)
Child Nodes:
Sister Nodes:
..Blount disease (C536237)
..Osteoarthropathy of fingers familial (C537144)
..Spinal Osteochondrosis (D055035) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1332
Name:	Blount disease
Definition:
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D055034
TreeNumbers:	C05.116.099/C536237 \|C05.116.821/C536237
Synonyms:	Osteochondrosis Deformans Tibiae \|Osteochondrosis deformans tibiae, familial infantile type \|Tibia vara
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: C536237 MeSH: C536237 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants