Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 physiology (HP:0012211)

Parent Node:
Renal insufficiency (HP:0000083)

..Starting node
..Chronic kidney disease (HP:0012622)

Term ID:

12622

Name:

Chronic kidney disease

Synonym:

Chronic kidney disease; Loss of renal function; Progressive renal failure; Progressive renal insufficiency; Renal failure, progressive; Renal insufficiency, progressive

Definition:

Functional anomaly of the kidney persisting for at least three months.

Comments:

Reference:

HP:0012622

Genes and Diseases:

Child Nodes:

........

Stage 5 chronic kidney disease (HP:0003774)

........

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)

Sister Nodes:

Acute kidney injury (HP:0001919)

Reversible renal failure (HP:0004713)

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:0012622	HP:0012622	Chronic kidney disease	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040282 - Frequent		16
HP:0012622	HP:0012622	Chronic kidney disease	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1			27
HP:0012622	HP:0012622	Chronic kidney disease	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		27
HP:0012622	HP:0012622	Chronic kidney disease	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0012622	HP:0012622	Chronic kidney disease	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0012622	HP:0012622	Chronic kidney disease	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0012622	HP:0012622	Chronic kidney disease	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0012622	HP:0012622	Chronic kidney disease	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		93
HP:0012622	HP:0012622	Chronic kidney disease	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0012622	HP:0012622	Chronic kidney disease	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0012622	HP:0012622	Chronic kidney disease	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8			6
HP:0012622	HP:0012622	Chronic kidney disease	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		6
HP:0012622	HP:0012622	Chronic kidney disease	0	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to			3
HP:0012622	HP:0012622	Chronic kidney disease	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0012622	Chronic kidney disease	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent		19
HP:0012622	HP:0012622	Chronic kidney disease	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012622	HP:0012622	Chronic kidney disease	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0012622	Chronic kidney disease	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0012622	HP:0012622	Chronic kidney disease	0	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0012622	HP:0012622	Chronic kidney disease	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040282 - Frequent		8
HP:0012622	HP:0012622	Chronic kidney disease	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0012622	HP:0012622	Chronic kidney disease	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		5
HP:0012622	HP:0012622	Chronic kidney disease	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent		22
HP:0012622	HP:0012622	Chronic kidney disease	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0012622	HP:0012622	Chronic kidney disease	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0012622	HP:0012622	Chronic kidney disease	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012622	HP:0012622	Chronic kidney disease	0	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0012622	HP:0012622	Chronic kidney disease	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		105
HP:0012622	HP:0012622	Chronic kidney disease	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0012622	HP:0012622	Chronic kidney disease	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0012622	HP:0012622	Chronic kidney disease	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0012622	HP:0012622	Chronic kidney disease	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0012622	HP:0012622	Chronic kidney disease	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6			342
HP:0012622	HP:0012622	Chronic kidney disease	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0012622	HP:0012622	Chronic kidney disease	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.		86
HP:0012622	HP:0012622	Chronic kidney disease	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency			47
HP:0012622	HP:0012622	Chronic kidney disease	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0012622	HP:0012622	Chronic kidney disease	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0012622	HP:0012622	Chronic kidney disease	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0012622	HP:0012622	Chronic kidney disease	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.		112
HP:0012622	HP:0012622	Chronic kidney disease	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0012622	HP:0012622	Chronic kidney disease	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0012622	HP:0012622	Chronic kidney disease	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0012622	HP:0012622	Chronic kidney disease	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive			161
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		161
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive			174
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		678
HP:0012622	HP:0012622	Chronic kidney disease	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent		18
HP:0012622	HP:0012622	Chronic kidney disease	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0012622	HP:0012622	Chronic kidney disease	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0012622	HP:0012622	Chronic kidney disease	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		35
HP:0012622	HP:0012622	Chronic kidney disease	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9			35
HP:0012622	HP:0012622	Chronic kidney disease	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		5
HP:0012622	HP:0012622	Chronic kidney disease	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form			101
HP:0012622	HP:0012622	Chronic kidney disease	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		12
HP:0012622	HP:0012622	Chronic kidney disease	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0012622	HP:0012622	Chronic kidney disease	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012622	HP:0012622	Chronic kidney disease	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0012622	HP:0012622	Chronic kidney disease	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0012622	HP:0012622	Chronic kidney disease	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0012622	HP:0012622	Chronic kidney disease	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7			17
HP:0012622	HP:0012622	Chronic kidney disease	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0012622	HP:0012622	Chronic kidney disease	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to			13
HP:0012622	HP:0012622	Chronic kidney disease	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0012622	HP:0012622	Chronic kidney disease	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0012622	HP:0012622	Chronic kidney disease	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0012622	HP:0012622	Chronic kidney disease	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012622	HP:0012622	Chronic kidney disease	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012622	HP:0012622	Chronic kidney disease	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic			15
HP:0012622	HP:0012622	Chronic kidney disease	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		11
HP:0012622	HP:0012622	Chronic kidney disease	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2			9
HP:0012622	HP:0012622	Chronic kidney disease	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		6
HP:0012622	HP:0012622	Chronic kidney disease	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012622	HP:0012622	Chronic kidney disease	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0012622	HP:0012622	Chronic kidney disease	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		115
HP:0012622	HP:0012622	Chronic kidney disease	0	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7			83
HP:0012622	HP:0012622	Chronic kidney disease	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0012622	HP:0012622	Chronic kidney disease	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012622	HP:0012622	Chronic kidney disease	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012622	HP:0012622	Chronic kidney disease	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0012622	HP:0012622	Chronic kidney disease	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0012622	HP:0012622	Chronic kidney disease	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		148
HP:0012622	HP:0012622	Chronic kidney disease	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012622	HP:0012622	Chronic kidney disease	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0012622	HP:0012622	Chronic kidney disease	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0012622	HP:0012622	Chronic kidney disease	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0012622	HP:0012622	Chronic kidney disease	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5			135
HP:0012622	HP:0012622	Chronic kidney disease	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		135
HP:0012622	HP:0012622	Chronic kidney disease	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0012622	HP:0012622	Chronic kidney disease	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0012622	HP:0012622	Chronic kidney disease	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012622	HP:0012622	Chronic kidney disease	0	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5			61
HP:0012622	HP:0012622	Chronic kidney disease	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012622	HP:0012622	Chronic kidney disease	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0012622	HP:0012622	Chronic kidney disease	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0012622	HP:0012622	Chronic kidney disease	0	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0012622	HP:0012622	Chronic kidney disease	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0012622	HP:0012622	Chronic kidney disease	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012622	HP:0012622	Chronic kidney disease	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional		35
HP:0012622	HP:0012622	Chronic kidney disease	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0012622	HP:0012622	Chronic kidney disease	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE			165
HP:0012622	HP:0012622	Chronic kidney disease	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012622	HP:0012622	Chronic kidney disease	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012622	HP:0012622	Chronic kidney disease	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		59
HP:0012622	HP:0012622	Chronic kidney disease	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15			59
HP:0012622	HP:0012622	Chronic kidney disease	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20			6
HP:0012622	HP:0012622	Chronic kidney disease	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012622	HP:0012622	Chronic kidney disease	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0012622	HP:0012622	Chronic kidney disease	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012622	HP:0012622	Chronic kidney disease	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2			1
HP:0012622	HP:0012622	Chronic kidney disease	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.		3
HP:0012622	HP:0012622	Chronic kidney disease	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0012622	Chronic kidney disease	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0012622	HP:0012622	Chronic kidney disease	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012622	HP:0012622	Chronic kidney disease	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0012622	HP:0012622	Chronic kidney disease	0	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9			43
HP:0012622	HP:0012622	Chronic kidney disease	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012622	HP:0012622	Chronic kidney disease	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1			85
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1			85
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4			220
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		241
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		69
HP:0012622	HP:0012622	Chronic kidney disease	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2			69
HP:0012622	HP:0012622	Chronic kidney disease	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare		97
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012622	HP:0012622	Chronic kidney disease	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12			5
HP:0012622	HP:0012622	Chronic kidney disease	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	.		88
HP:0012622	HP:0012622	Chronic kidney disease	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012622	HP:0012622	Chronic kidney disease	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7			39
HP:0012622	HP:0012622	Chronic kidney disease	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		39
HP:0012622	HP:0012622	Chronic kidney disease	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0012622	HP:0012622	Chronic kidney disease	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012622	HP:0012622	Chronic kidney disease	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012622	HP:0012622	Chronic kidney disease	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0012622	HP:0012622	Chronic kidney disease	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		342
HP:0012622	HP:0012622	Chronic kidney disease	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		106
HP:0012622	HP:0012622	Chronic kidney disease	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012622	HP:0012622	Chronic kidney disease	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0012622	HP:0012622	Chronic kidney disease	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		118
HP:0012622	HP:0012622	Chronic kidney disease	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3			118
HP:0012622	HP:0012622	Chronic kidney disease	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012622	HP:0012622	Chronic kidney disease	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare		41
HP:0012622	HP:0012622	Chronic kidney disease	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012622	HP:0012622	Chronic kidney disease	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity			49
HP:0012622	HP:0012622	Chronic kidney disease	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		2
HP:0012622	HP:0012622	Chronic kidney disease	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0012622	Chronic kidney disease	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040284 - Very rare		166
HP:0012622	HP:0012622	Chronic kidney disease	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O			391
HP:0012622	HP:0012622	Chronic kidney disease	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.		25
HP:0012622	HP:0012622	Chronic kidney disease	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012622	HP:0012622	Chronic kidney disease	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0012622	HP:0012622	Chronic kidney disease	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0012622	HP:0012622	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:0012622	HP:0012622	Chronic kidney disease	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0012622	HP:0012622	Chronic kidney disease	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0012622	HP:0012622	Chronic kidney disease	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012622	HP:0012622	Chronic kidney disease	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.		2
HP:0012622	HP:0012622	Chronic kidney disease	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012622	HP:0012622	Chronic kidney disease	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		56
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional		57
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012622	HP:0012622	Chronic kidney disease	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0012622	HP:0012622	Chronic kidney disease	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012622	HP:0012622	Chronic kidney disease	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0012622	HP:0012622	Chronic kidney disease	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0012622	HP:0012622	Chronic kidney disease	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3			1
HP:0012622	HP:0012622	Chronic kidney disease	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012622	HP:0012622	Chronic kidney disease	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		2
HP:0012622	HP:0012622	Chronic kidney disease	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0012622	Chronic kidney disease	0	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20			1
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0012622	HP:0012622	Chronic kidney disease	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0012622	HP:0012622	Chronic kidney disease	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0012622	HP:0012622	Chronic kidney disease	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012622	HP:0012622	Chronic kidney disease	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0012622	HP:0012622	Chronic kidney disease	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0012622	HP:0012622	Chronic kidney disease	0	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.		107
HP:0012622	HP:0012622	Chronic kidney disease	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		107
HP:0012622	HP:0012622	Chronic kidney disease	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0012622	HP:0012622	Chronic kidney disease	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0012622	HP:0012622	Chronic kidney disease	0	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12			132
HP:0012622	HP:0012622	Chronic kidney disease	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0012622	HP:0012622	Chronic kidney disease	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012622	HP:0012622	Chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0012622	HP:0012622	Chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0012622	HP:0012622	Chronic kidney disease	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0012622	HP:0012622	Chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0012622	HP:0012622	Chronic kidney disease	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0012622	HP:0012622	Chronic kidney disease	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0012622	HP:0012622	Chronic kidney disease	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome			177
HP:0012622	HP:0012622	Chronic kidney disease	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		177
HP:0012622	HP:0012622	Chronic kidney disease	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0012622	HP:0012622	Chronic kidney disease	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012622	HP:0012622	Chronic kidney disease	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012622	HP:0012622	Chronic kidney disease	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	HP:0040283 - Occasional		27
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		27
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040283 - Occasional		260
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		93
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to	.		3
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional		19
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional		22
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5			92
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CD151 CL E G H	977	1630	OMIM:609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		105
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	.		10
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.		47
HP:0012622	HP:0012624	Stage 2 chronic kidney disease	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF			4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.		161
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		161
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.		174
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		35
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.		35
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional		101
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		12
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.		178
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	HP:0040283 - Occasional		17
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.		13
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.		4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		2
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.		15
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.		9
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		86
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GLIS2 CL E G H	84662	29450	OMIM:611498	NEPHRONOPHTHISIS 7; NPHP7			83
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare		53
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	HP:0040282 - Frequent		90
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0012622	HP:0012623	Stage 1 chronic kidney disease	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		148
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional		11
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	HP:0040283 - Occasional		135
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5			135
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		135
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	HP:0011463 - Childhood onset	106
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5	.		61
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	HP:0040284 - Very rare
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	HP:0003593 - Infantile onset	92
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE			165
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		59
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	HP:0040284 - Very rare		59
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.		1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9			43
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.		85
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.		85
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.		220
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		241
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		69
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.		69
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.		5
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	HP:0040283 - Occasional		39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		342
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040282 - Frequent		106
HP:0012622	HP:0012623	Stage 1 chronic kidney disease	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		118
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.		118
HP:0012622	HP:0012625	Stage 3 chronic kidney disease	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012622	HP:0012626	Stage 4 chronic kidney disease	1	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040283 - Occasional		49
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		2
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.		391
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0012622	HP:0012625	Stage 3 chronic kidney disease	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		47
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	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:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3			1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.		1
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	HP:0040284 - Very rare
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.		107
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		107
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TTC21B CL E G H	79809	25660	OMIM:613820	Nephronophthisis 12			132
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional		95
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	.		95
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.		177
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome			177
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		177
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.		109
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012622	HP:0003774	Stage 5 chronic kidney disease	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83

Genes (169) :ACP5 ACTN4 AGXT AHI1 ALDOB ALG5 ALG9 ALMS1 ANKFY1 ANKS6 ANLN APOL1 APRT ARHGAP24 ARHGDIA AVIL B2M BBIP1 BICC1 BNC2 BSND C3 CC2D2A CD151 CD2AP CD81 CEP164 CEP290 CEP83 CFH CFHR5 CHRNA3 CLCN5 CLCNKA CLCNKB CLDN16 CLDN19 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COQ6 COQ8B CORIN CPT2 CRB2 CTNS DAAM2 DCDC2 DGKE DNAJB11 DSTYK DZIP1L EHHADH EIF2AK3 EMP2 FAN1 FLT1 FN1 GANAB GAPVD1 GATA3 GATM GCDH GLIS2 GON7 GSN HNF1B IFNG IFT122 IFT140 IFT172 IFT43 INF2 INVS IQCB1 JAG1 KYNU LAGE3 LAMA5 LAMB2 LDHA LMX1B LZTFL1 MAFB MAGI2 MAPKBP1 MEFV MMP1 MMUT MUC1 MYO1E MYOCD NDUFAF6 NEK8 NOD2 NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PBX1 PIGA PKD1 PKD2 PKDCC PKHD1 PLCE1 POLRMT PPOX PRKCD PRPS1 PTPRO PUS3 PYGM RAD51C REN RNU7-1 RPGRIP1L RRM2B SAA1 SARS2 SDCCAG8 SEC61A1 SGPL1 SH2B1 SLC22A12 SLC2A9 SLC30A9 SLC34A1 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SOX18 SPRY2 SRCAP STOX1 TBC1D8B TMEM126B TMEM231 TMEM67 TP53RK TPRKB TRAF3IP1 TRPC6 TSC1 TSC2 TTC21B TTC26 WDR19 WT1 XPNPEP3 YRDC ZMPSTE24 ZNF699

Diseases (171) :ORPHA:1855 OMIM:603278 ORPHA:656 ORPHA:93598 OMIM:608629 ORPHA:469 OMIM:620056 ORPHA:730 ORPHA:64 OMIM:615382 OMIM:616032 OMIM:612551 ORPHA:976 OMIM:615244 OMIM:618594 ORPHA:314652 OMIM:615995 ORPHA:93110 ORPHA:89938 OMIM:612925 OMIM:612285 OMIM:609057 OMIM:613496 ORPHA:3156 OMIM:610188 OMIM:610189 OMIM:615862 OMIM:609814 OMIM:614809 OMIM:191800 OMIM:300009 OMIM:300554 OMIM:310468 OMIM:248250 OMIM:248190 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 ORPHA:79408 OMIM:614650 OMIM:615573 ORPHA:275555 ORPHA:228302 OMIM:219900 OMIM:219800 ORPHA:411634 OMIM:616217 ORPHA:84081 OMIM:615008 OMIM:618061 OMIM:610805 ORPHA:731 OMIM:617610 ORPHA:3337 ORPHA:1667 OMIM:614817 OMIM:601894 OMIM:146255 ORPHA:25 OMIM:611498 OMIM:619603 ORPHA:85448 OMIM:137920 ORPHA:805 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:614099 OMIM:614455 OMIM:613237 OMIM:602088 OMIM:609254 OMIM:118450 OMIM:617661 OMIM:301006 OMIM:620049 OMIM:614199 OMIM:609049 ORPHA:284426 ORPHA:2614 OMIM:256020 OMIM:615994 OMIM:166300 OMIM:617609 OMIM:617271 OMIM:249100 OMIM:251000 OMIM:174000 OMIM:614131 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 ORPHA:642 OMIM:618348 OMIM:616730 OMIM:618177 OMIM:618178 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:300555 OMIM:617729 OMIM:616002 OMIM:120330 ORPHA:97362 ORPHA:447 OMIM:618821 OMIM:610725 OMIM:619743 ORPHA:79473 OMIM:615559 ORPHA:411536 ORPHA:488627 ORPHA:368 OMIM:613390 OMIM:613092 OMIM:619487 OMIM:619113 OMIM:611560 OMIM:268315 ORPHA:85445 OMIM:613845 OMIM:617056 OMIM:617575 ORPHA:261222 ORPHA:94088 OMIM:617595 ORPHA:79259 OMIM:619468 OMIM:222700 OMIM:242900 ORPHA:1830 OMIM:137940 OMIM:616818 ORPHA:2044 OMIM:301028 OMIM:618250 ORPHA:2752 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:602152 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 OMIM:619488

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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