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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: Facies (D019066)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Osteolysis (D010014)
..Starting node ..Osteolysis syndrome recessive (C536052)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8412
Name:	Osteolysis syndrome recessive
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D008607\|MESH:D010014\|MESH:D019066
TreeNumbers:	C05.116.264.579/C536052 \|C10.597.606.643/C536052 \|C23.550.291.812/C536052 \|C23.550.393/C536052 \|C23.888.592.604.646/C536052 \|F03.550.600/C536052
Synonyms:	Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance \|Osteolysis Syndrome, Recessive
Slim Mappings:	Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536052 MeSH: C536052 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants