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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 (D001847)
Parent Node: Intellectual Disability (D008607)
Parent Node: Sclerosis (D012598)
..Starting node ..Sclerosing bone dysplasia mental retardation (C537523)
Child Nodes:
Sister Nodes:
..Mediastinal Fibrosis (C536136)
..Mesangial sclerosis, diffuse (C537346)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Osteosclerosis with ichthyosis and premature ovarian failure (C536064)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Scleroatonic muscular dystrophy (C537521)
..Sclerosing bone dysplasia mental retardation (C537523)
..Sclerosing lymphocytic lobulitis (C537524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10064
Name:	Sclerosing bone dysplasia mental retardation
Definition:
Alternative IDs:
ParentIDs:	MESH:D001847\|MESH:D008607\|MESH:D012598
TreeNumbers:	C05.116/C537523 \|C10.597.606.643/C537523 \|C23.550.823/C537523 \|C23.888.592.604.646/C537523 \|F03.550.600/C537523
Synonyms:	Mixed sclerosing bone dysplasia and mental retardation
Slim Mappings:	Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C537523 MeSH: C537523 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants