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 medulla morphology (HP:0100957)

Parent Node:
Renal cyst (HP:0000107)

..Starting node
..Multiple small medullary renal cysts (HP:0008659)

Term ID:

8659

Name:

Multiple small medullary renal cysts

Synonym:

Medullary cystic disease; Medullary sponge kidney disease

Definition:

The presence of many cysts in the medulla of the kidney.

Comments:

Reference:

HP:0008659

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystic renal dysplasia (HP:0000800)

Multicystic kidney dysplasia (HP:0000003)

Multiple renal cysts (HP:0005562)

Polycystic kidney dysplasia (HP:0000113)

Renal cortical cysts (HP:0000803)

Renal corticomedullary cysts (HP:0000108)

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:0008659	HP:0008659	Multiple small medullary renal cysts	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional	6
HP:0008659	HP:0008659	Multiple small medullary renal cysts	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0008659	HP:0008659	Multiple small medullary renal cysts	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0008659	HP:0008659	Multiple small medullary renal cysts	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166

Genes (4) :AP2S1 JAG1 PKHD1 TMEM67

Diseases (4) :OMIM:600740 OMIM:118450 OMIM:263200 OMIM:216360

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