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: Eye Abnormalities (D005124)
Parent Node: Nephrotic Syndrome (D009404)
Parent Node: Sclerosis (D012598)
..Starting node ..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
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:

7089

Name:

Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities

Definition:

Alternative IDs:

ParentIDs:

MESH:D005124|MESH:D009404|MESH:D012598

TreeNumbers:

C11.250/C565405 |C12.777.419.630.643/C565405 |C13.351.968.419.630.643/C565405 |C16.131.384/C565405 |C23.550.823/C565405

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C565405
MeSH: C565405
OMIM: 249660;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001967	Diffuse mesangial sclerosis
3	HP:0001249	Intellectual disability
4	HP:0000100	Nephrotic syndrome
5	HP:0000639	Nystagmus
6	HP:0000648	Optic atrophy
7	HP:0000083	Renal insufficiency
8	HP:0008043	Retinal arteriolar constriction

Disease Causing ClinVar Variants