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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

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Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Ichthyosis Vulgaris (D016112)
Parent Node: Primary Ovarian Insufficiency (D016649)
Parent Node: Sclerosis (D012598)
..Starting node ..Osteosclerosis with ichthyosis and premature ovarian failure (C536064)
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:

8451

Name:

Osteosclerosis with ichthyosis and premature ovarian failure

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D012598|MESH:D016112|MESH:D016649

TreeNumbers:

C05.116.099/C536064 |C13.351.500.056.630.750/C536064 |C16.131.831.512.410/C536064 |C16.320.850.405/C536064 |C17.800.428.333.410/C536064 |C17.800.804.512.410/C536064 |C17.800.827.405/C536064 |C19.391.630.750/C536064 |C23.550.823/C536064

Synonyms:

Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure

Slim Mappings:

Reference:

MedGen: C536064
MeSH: C536064
OMIM: 609993;

Genes:

Phenotypes

HP:0008209

Premature ovarian insufficiency

Disease Causing ClinVar Variants