Disease browser and phenotype portal

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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: Musculoskeletal Diseases (D009140)
..Starting node ..Hand Deformities (D006226)
Child Nodes:
........Hand Deformities, Acquired (D006227)
........Hand Deformities, Congenital (D006228) 134
........Thumb deformity (C536903)
Sister Nodes:
..Bone Diseases (D001847) 1082
..C SYNDROME (OMIM:211750)
..Cartilage Diseases (D002357) 22
..Fasciitis (D005208) 4
..Foot Deformities (D005530) 92
..Foot Diseases (D005534) 13
..Hand Deformities (D006226) 137
..Jaw Diseases (D007571) 199
..Joint Diseases (D007592) 230
..Muscular Diseases (D009135) 430
..Musculoskeletal Abnormalities (D009139) 1165
..Rheumatic Diseases (D012216) 38
..Spondylocarpotarsal synostosis (C535780)
..Tennis Elbow (D013716)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4884
Name:	Hand Deformities
Definition:	Alterations or deviations from normal shape or size which result in a disfigurement of the hand.
Alternative IDs:
ParentIDs:	MESH:D009140
TreeNumbers:	C05.390
Synonyms:	Deformities, Hand \|Deformity, Hand \|Hand Deformity
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D006226 MeSH: D006226 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants