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:
Renal cyst (HP:0000107)

..Starting node
..Cystic renal dysplasia (HP:0000800)

Term ID:

800

Name:

Cystic renal dysplasia

Synonym:

Bilateral cystic dysplasia; Renal cystic dysplasia; Renal dysplasia, cystic

Definition:

Comments:

Reference:

HP:0000800

Genes and Diseases:

Child Nodes:

Sister Nodes:

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 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:0000800	HP:0000800	Cystic renal dysplasia	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	.	5
HP:0000800	HP:0000800	Cystic renal dysplasia	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0000800	HP:0000800	Cystic renal dysplasia	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0000800	HP:0000800	Cystic renal dysplasia	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	HP:0040283 - Occasional	4
HP:0000800	HP:0000800	Cystic renal dysplasia	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0000800	HP:0000800	Cystic renal dysplasia	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271

Genes (6) :BICC1 BMPER CPT2 JAM3 NEK8 TBC1D24

Diseases (6) :OMIM:601331 OMIM:608022 ORPHA:228308 OMIM:613730 OMIM:615415 OMIM:220500

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