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 cortex morphology (HP:0011035)

Grandparent Node:
Renal cyst (HP:0000107)

Parent Node:
Renal cortical cysts (HP:0000803)

..Starting node
..Renal cortical microcysts (HP:0004734)

Term ID:

4734

Name:

Renal cortical microcysts

Synonym:

Cortical microcysts; Multiple renal cortical microcysts; Multiple small renal cortical cysts

Definition:

Cysts of microscopic size confined to the cortex of the kidney.

Comments:

Reference:

HP:0004734

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004734	HP:0004734	Renal cortical microcysts	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0004734	HP:0004734	Renal cortical microcysts	0	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9		43
HP:0004734	HP:0004734	Renal cortical microcysts	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0004734	HP:0004734	Renal cortical microcysts	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0004734	HP:0004734	Renal cortical microcysts	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.

Genes (5) :INVS NEK8 PEX1 PEX2 SKIC3

Diseases (5) :OMIM:602088 OMIM:613824 OMIM:214100 OMIM:614866 OMIM:222470

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