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

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Disease Browser
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Polycystic Kidney, Autosomal Dominant (D016891)
Child Nodes:
........Medullary cystic kidney disease 1 (C536137)
........Medullary Cystic Kidney Disease 2 (C548033)
........NEVER IN MITOSIS GENE A-RELATED KINASE 1 (OMIM:604588)
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9057

Name:

Polycystic Kidney, Autosomal Dominant

Definition:

Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.

Alternative IDs:

OMIM:600666|OMIM:613095

ParentIDs:

MESH:D007690

TreeNumbers:

C12.777.419.403.875.500 |C13.351.968.419.403.875.500

Synonyms:

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D016891
MeSH: D016891
OMIM: 600666;

Genes: PKD2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001410	Decreased liver function	HP:0040283
3	HP:0004944	Dilatation of the cerebral artery
4	HP:0001407	Hepatic cysts
5	HP:0000822	Hypertension	HP:0040283
6	HP:0000113	Polycystic kidney dysplasia
7	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants