Human Phenotype Ontology

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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

Grandparent Node:
Abnormal renal morphology (HP:0012210)

Parent Node:
Abnormal renal cortex morphology (HP:0011035)

Parent Node:
Abnormal renal medulla morphology (HP:0100957)

Parent Node:
Renal cyst (HP:0000107)

..Starting node
..Renal corticomedullary cysts (HP:0000108)

Term ID:

108

Name:

Renal corticomedullary cysts

Synonym:

Corticomedullary renal cysts; Renal corticomedullary cystic disease

Definition:

The presence of multiple cysts at the border between the renal cortex and medulla.

Comments:

Reference:

HP:0000108

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystic renal dysplasia (HP:0000800)

Multicystic kidney dysplasia (HP:0000003)

Multiple renal cysts (HP:0005562)

Multiple small medullary renal cysts (HP:0008659)

Polycystic kidney dysplasia (HP:0000113)

Renal cortical cysts (HP:0000803)

Renal diverticulum (HP:0100877)

Simple renal cyst (HP:0012581)

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:0000108	HP:0000108	Renal corticomedullary cysts	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.	12
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0000108	HP:0000108	Renal corticomedullary cysts	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.	109

Genes (8) :CRB2 DCDC2 MUC1 NPHP1 NPHP3 NPHP4 TMEM67 XPNPEP3

Diseases (8) :OMIM:219730 ORPHA:84081 OMIM:174000 OMIM:256100 OMIM:604387 OMIM:606966 OMIM:613550 OMIM:613159

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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