MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Potter Type III Polycystic Kidney Disease (C566792)
Child Nodes:
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,ClinVar, CTD

Term ID:	10128
Name:	Potter Type III Polycystic Kidney Disease
Definition:
Alternative IDs:
ParentIDs:	MESH:D007690
TreeNumbers:	C12.777.419.403.875/C566792 \|C13.351.968.419.403.875/C566792 \|C16.131.077.717/C566792 \|C16.320.184.625/C566792
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C566792 MeSH: C566792 OMIM: MSeqDR : Genes: POLG;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal