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: Bone Resorption (D001862)
..Starting node ..Osteolysis (D010014)
Child Nodes:
........Acro-Osteolysis (D030981) 7
........Dermatoosteolysis Kirghizian type (C535373)
........Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
........Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
........Osteolysis hereditary multicentric (C536051)
........Osteolysis syndrome recessive (C536052)
........Osteolysis, Essential (D010015) 1
........Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy (C567171)
........Polyosteolysis-Hyperostosis Syndrome (C563658)
........Polyostotic osteolytic dysplasia, hereditary expansile (C536335)
........Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals (C536894)
........Winchester syndrome (C536709)
Sister Nodes:
..Ainhum (D000387) 1
..Alveolar Bone Loss (D016301)
..Osteolysis (D010014) 20
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8408
Name:	Osteolysis
Definition:	Dissolution of bone that particularly involves the removal or loss of calcium.
Alternative IDs:
ParentIDs:	MESH:D001862
TreeNumbers:	C05.116.264.579
Synonyms:	Osteolyses
Slim Mappings:	Musculoskeletal disease
Reference:	MedGen: D010014 MeSH: D010014 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants