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
..Polycystic kidney dysplasia (HP:0000113)

Term ID:

113

Name:

Polycystic kidney dysplasia

Synonym:

Enlarged polycystic kidneys; Polycystic kidney disease; Polycystic kidneys

Definition:

The presence of multiple cysts in both kidneys.

Comments:

Reference:

HP:0000113

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)

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	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.		169
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	HP:0003577 - Congenital onset	101
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.		4
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.		6
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent		83
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.		69
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	HP:0003581 - Adult onset	201
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.		342
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.		106
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.		33
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0000113	HP:0000113	Polycystic kidney dysplasia	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.		49

Genes (52) :ALG9 ANKS6 ARVCF CDC73 COMT CPT2 DYNC2H1 DZIP1L ESCO2 ETFA ETFB ETFDH EYA1 GANAB GATA3 GLIS3 GP1BB HIRA IFNG IFT43 JMJD1C MKKS MKS1 NAA10 NEK1 NPHP3 OFD1 PEX12 PEX5 PKD1 PKD2 PKHD1 RNU4ATAC RREB1 SEC24C SHANK3 SIX1 SKIC2 SKIC3 SRCAP TBX1 TCTN2 TMEM107 TMEM218 TMEM231 TRIP11 TSC1 TSC2 TXNDC15 UFD1 WDR35 ZNF423

Diseases (43) :OMIM:608776 OMIM:263210 OMIM:615382 ORPHA:567 OMIM:145001 ORPHA:228308 OMIM:608836 OMIM:613091 ORPHA:731 OMIM:617610 OMIM:268300 ORPHA:3103 OMIM:231680 OMIM:113650 OMIM:600666 ORPHA:2237 OMIM:610199 ORPHA:805 OMIM:617866 OMIM:236700 OMIM:249000 OMIM:300855 OMIM:263520 OMIM:208540 OMIM:311200 OMIM:614859 OMIM:214110 OMIM:173900 OMIM:613095 ORPHA:53035 OMIM:263200 OMIM:210710 OMIM:606232 ORPHA:84064 ORPHA:2044 OMIM:613885 OMIM:617562 OMIM:619562 OMIM:615397 OMIM:184260 OMIM:619879 OMIM:614091 OMIM:614844

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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