Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal nephron morphology (HP:0012575)

Grandparent Node:
Abnormal renal corpuscle morphology (HP:0031263)

Parent Node:
Abnormal renal glomerulus morphology (HP:0000095)

..Starting node
..Multiple glomerular cysts (HP:0100611)

Term ID:

100611

Name:

Multiple glomerular cysts

Synonym:

Glomerulocystic kidney disease

Definition:

The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.

Comments:

Reference:

HP:0100611

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal glomerular capillary morphology (HP:0025006)

Abnormal glomerular mesangium morphology (HP:0001966)

Glomerular basement membrane lamellation (HP:0030034)

Glomerular deposits (HP:0030949)

Glomerular endocapillary hypercellularity (HP:0025363)

Glomerular extracapillary hypercellularity (HP:0025364)

Glomerular sclerosis (HP:0000096)

Glomerulomegaly (HP:0030162)

Glomerulonephritis (HP:0000099)

Glomerulopathy (HP:0100820)

Lobular glomerulopathy (HP:0008636)

Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)

Thickened glomerular basement membrane (HP:0004722)

Thin glomerular basement membrane (HP:0012577)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0100611	HP:0100611	Multiple glomerular cysts	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0100611	HP:0100611	Multiple glomerular cysts	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0100611	HP:0100611	Multiple glomerular cysts	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional

Genes (14) :ATP6 HNF1B MYOCD ND1 ND2 ND3 ND4 ND5 ND6 NPHP3 TRNK TRNL1 TRNV TRNW

Diseases (4) :ORPHA:255210 OMIM:137920 OMIM:618719 OMIM:267010

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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