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:
Renal insufficiency (HP:0000083)

Parent Node:
Chronic kidney disease (HP:0012622)

..Starting node
..Stage 5 chronic kidney disease (HP:0003774)

Term ID:

3774

Name:

Stage 5 chronic kidney disease

Synonym:

Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Renal failure, endstage; Stage 5 chronic kidney disease

Definition:

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

Comments:

Reference:

HP:0003774

Genes and Diseases:

Child Nodes:

Sister Nodes:

Stage 1 chronic kidney disease (HP:0012623)

Stage 2 chronic kidney disease (HP:0012624)

Stage 3 chronic kidney disease (HP:0012625)

Stage 4 chronic kidney disease (HP:0012626)

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:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	HP:0040283 - Occasional		27
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		27
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040283 - Occasional		260
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		93
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to	.		3
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional		22
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		105
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.		10
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.		47
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.		161
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		161
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.		174
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		35
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.		35
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional		101
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		12
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.		178
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	HP:0040283 - Occasional		17
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.		13
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.		4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		2
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.		15
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.		9
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		86
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7			83
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare		53
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	HP:0040282 - Frequent		90
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		148
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional		11
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	HP:0040283 - Occasional		135
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5			135
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		135
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	HP:0011463 - Childhood onset	106
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5	.		61
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	HP:0040284 - Very rare
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	HP:0003593 - Infantile onset	92
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE			165
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		59
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	HP:0040284 - Very rare		59
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.		1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9			43
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.		85
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		241
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		69
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.		69
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.		5
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	HP:0040283 - Occasional		39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		342
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		106
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		118
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.		118
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		2
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.		391
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		47
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040284 - Very rare		110
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3			1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.		1
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	HP:0040284 - Very rare
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.		107
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		107
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12			132
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional		95
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	.		95
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.		177
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome			177
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		177
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.		109
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0003774	HP:0003774	Stage 5 chronic kidney disease	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83

Genes (131) :ACTN4 AGXT AHI1 ALG5 ALG9 ALMS1 ANKFY1 ANKS6 ANLN APOL1 APRT ARHGAP24 ARHGDIA AVIL BBIP1 BICC1 BNC2 BSND C3 CC2D2A CD151 CD2AP CD81 CEP164 CEP290 CEP83 CFHR5 CLCN5 CLCNKA CLCNKB COL4A3 COL4A4 COL4A5 COL4A6 COQ6 COQ8B CPT2 CRB2 CTNS DAAM2 DCDC2 DGKE DNAJB11 DSTYK DZIP1L EHHADH EMP2 FAN1 FN1 GANAB GAPVD1 GATM GLIS2 GON7 GSN HNF1B IFNG IFT122 IFT140 IFT43 INF2 INVS IQCB1 JAG1 LAGE3 LAMA5 LAMB2 LMX1B LZTFL1 MAFB MAGI2 MAPKBP1 MEFV MMUT MUC1 MYO1E MYOCD NDUFAF6 NEK8 NOD2 NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PKD1 PKD2 PKHD1 PLCE1 PRKCD PTPRO RAD51C RNU7-1 RPGRIP1L RRM2B SDCCAG8 SGPL1 SLC34A1 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SPRY2 SRCAP TBC1D8B TMEM126B TMEM231 TMEM67 TP53RK TPRKB TRAF3IP1 TRPC6 TSC1 TSC2 TTC21B TTC26 WDR19 WT1 XPNPEP3 YRDC ZMPSTE24

Diseases (131) :OMIM:603278 ORPHA:656 ORPHA:93598 OMIM:608629 OMIM:620056 ORPHA:730 ORPHA:64 OMIM:615382 OMIM:616032 OMIM:612551 ORPHA:976 OMIM:618594 OMIM:615995 ORPHA:93110 ORPHA:89938 OMIM:612925 OMIM:612285 OMIM:609057 OMIM:613496 ORPHA:3156 OMIM:610188 OMIM:610189 OMIM:615862 OMIM:614809 OMIM:300009 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 OMIM:614650 OMIM:615573 ORPHA:228302 OMIM:219900 OMIM:219800 ORPHA:411634 OMIM:616217 ORPHA:84081 OMIM:615008 OMIM:618061 OMIM:610805 ORPHA:731 OMIM:617610 ORPHA:3337 OMIM:614817 OMIM:601894 OMIM:611498 OMIM:619603 ORPHA:85448 OMIM:137920 ORPHA:805 OMIM:218330 OMIM:266920 OMIM:614099 OMIM:614455 OMIM:613237 OMIM:602088 OMIM:609254 OMIM:118450 OMIM:301006 OMIM:620049 OMIM:614199 OMIM:609049 ORPHA:2614 OMIM:256020 OMIM:615994 OMIM:166300 OMIM:617609 OMIM:617271 OMIM:249100 OMIM:251000 OMIM:174000 OMIM:618719 OMIM:618913 OMIM:613824 ORPHA:90340 OMIM:619155 OMIM:609583 OMIM:256100 OMIM:266900 OMIM:267010 OMIM:604387 OMIM:208540 OMIM:606966 OMIM:606996 OMIM:600995 OMIM:618348 OMIM:616730 OMIM:618177 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:617729 OMIM:616002 OMIM:120330 OMIM:610725 OMIM:615559 OMIM:613390 OMIM:619487 OMIM:619113 OMIM:611560 OMIM:268315 OMIM:617575 ORPHA:79259 OMIM:619468 OMIM:222700 OMIM:242900 ORPHA:1830 OMIM:616818 ORPHA:2044 OMIM:301028 OMIM:618250 ORPHA:2752 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:617730 OMIM:617731 OMIM:616629 OMIM:603965 OMIM:613820 OMIM:613819 OMIM:619534 OMIM:614378 OMIM:614377 OMIM:616307 OMIM:614376 OMIM:194080 OMIM:136680 OMIM:613159 OMIM:619609 OMIM:608612

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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