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 morphology (HP:0012210)

Parent Node:
Renal hypoplasia/aplasia (HP:0008678)

..Starting node
..Renal agenesis (HP:0000104)

Term ID:

104

Name:

Renal agenesis

Synonym:

Absent kidney; Missing kidney; Renal aplasia

Definition:

Agenesis, that is, failure of the kidney to develop during embryogenesis and development.

Comments:

Reference:

HP:0000104

Genes and Diseases:

Child Nodes:

........

Unilateral renal agenesis (HP:0000122)

........

Bilateral renal agenesis (HP:0010958)

Sister Nodes:

Renal hypoplasia (HP:0000089)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000104	HP:0000104	Renal agenesis	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000104	HP:0000104	Renal agenesis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000104	HP:0000104	Renal agenesis	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0000104	HP:0000104	Renal agenesis	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000104	HP:0000104	Renal agenesis	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0000104	HP:0000104	Renal agenesis	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000104	HP:0000104	Renal agenesis	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0000104	HP:0000104	Renal agenesis	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0000104	HP:0000104	Renal agenesis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000104	HP:0000104	Renal agenesis	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0000104	HP:0000104	Renal agenesis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000104	HP:0000104	Renal agenesis	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare	16
HP:0000104	HP:0000104	Renal agenesis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000104	HP:0000104	Renal agenesis	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000104	HP:0000104	Renal agenesis	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000104	HP:0000104	Renal agenesis	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000104	HP:0000104	Renal agenesis	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0000104	HP:0000104	Renal agenesis	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0000104	HP:0000104	Renal agenesis	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000104	HP:0000104	Renal agenesis	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0000104	HP:0000104	Renal agenesis	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0000104	HP:0000104	Renal agenesis	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0000104	HP:0000104	Renal agenesis	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0000104	HP:0000104	Renal agenesis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000104	HP:0000104	Renal agenesis	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0000104	HP:0000104	Renal agenesis	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0000104	HP:0000104	Renal agenesis	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0000104	HP:0000104	Renal agenesis	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000104	HP:0000104	Renal agenesis	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000104	HP:0000104	Renal agenesis	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000104	HP:0000104	Renal agenesis	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000104	HP:0000104	Renal agenesis	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0000104	HP:0000104	Renal agenesis	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0000104	HP:0000104	Renal agenesis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000104	HP:0000104	Renal agenesis	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0000104	HP:0000104	Renal agenesis	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0000104	HP:0000104	Renal agenesis	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000104	HP:0000104	Renal agenesis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000104	HP:0000104	Renal agenesis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000104	HP:0000104	Renal agenesis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000104	HP:0000104	Renal agenesis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000104	HP:0000104	Renal agenesis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000104	HP:0000104	Renal agenesis	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000104	HP:0000104	Renal agenesis	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000104	HP:0000104	Renal agenesis	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000104	HP:0000104	Renal agenesis	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0000104	HP:0000104	Renal agenesis	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000104	HP:0000104	Renal agenesis	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0000104	HP:0000104	Renal agenesis	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000104	HP:0000104	Renal agenesis	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000104	HP:0000104	Renal agenesis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000104	HP:0000104	Renal agenesis	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0000104	HP:0000104	Renal agenesis	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000104	HP:0000104	Renal agenesis	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0000104	HP:0000104	Renal agenesis	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0000104	HP:0000104	Renal agenesis	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0000104	HP:0000104	Renal agenesis	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0000104	HP:0000104	Renal agenesis	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0000104	HP:0000104	Renal agenesis	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0000104	HP:0000104	Renal agenesis	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000104	HP:0000104	Renal agenesis	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000104	HP:0000104	Renal agenesis	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000104	HP:0000104	Renal agenesis	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0000104	HP:0000104	Renal agenesis	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000104	HP:0000104	Renal agenesis	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040282 - Frequent	198
HP:0000104	HP:0000104	Renal agenesis	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0000104	HP:0000104	Renal agenesis	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000104	HP:0000104	Renal agenesis	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0000104	HP:0000104	Renal agenesis	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0000104	HP:0000104	Renal agenesis	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0000104	HP:0000104	Renal agenesis	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000104	HP:0000104	Renal agenesis	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0000104	HP:0000104	Renal agenesis	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0000104	HP:0000104	Renal agenesis	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0000104	HP:0000104	Renal agenesis	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000104	HP:0000104	Renal agenesis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000104	HP:0000104	Renal agenesis	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000104	HP:0000104	Renal agenesis	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0000104	HP:0000104	Renal agenesis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000104	HP:0000104	Renal agenesis	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0000104	HP:0000104	Renal agenesis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0000104	HP:0000104	Renal agenesis	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000104	HP:0000104	Renal agenesis	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent	25
HP:0000104	HP:0000104	Renal agenesis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000104	HP:0000104	Renal agenesis	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0000104	HP:0000104	Renal agenesis	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000104	HP:0000104	Renal agenesis	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000104	HP:0000104	Renal agenesis	0	INSL3 CL E G H	3640	6086	OMIM:219050	Cryptorchidism, unilateral or bilateral	.	5
HP:0000104	HP:0000104	Renal agenesis	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0000104	HP:0000104	Renal agenesis	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000104	HP:0000104	Renal agenesis	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000104	HP:0000104	Renal agenesis	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0000104	HP:0000104	Renal agenesis	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0000104	HP:0000104	Renal agenesis	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0000104	HP:0000104	Renal agenesis	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0000104	HP:0000104	Renal agenesis	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0000104	HP:0000104	Renal agenesis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0000104	HP:0000104	Renal agenesis	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000104	HP:0000104	Renal agenesis	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0000104	HP:0000104	Renal agenesis	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0000104	HP:0000104	Renal agenesis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0000104	HP:0000104	Renal agenesis	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000104	HP:0000104	Renal agenesis	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0000104	HP:0000104	Renal agenesis	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000104	HP:0000104	Renal agenesis	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0000104	HP:0000104	Renal agenesis	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000104	HP:0000104	Renal agenesis	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000104	HP:0000104	Renal agenesis	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000104	HP:0000104	Renal agenesis	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0000104	HP:0000104	Renal agenesis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0000104	HP:0000104	Renal agenesis	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0000104	HP:0000104	Renal agenesis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000104	HP:0000104	Renal agenesis	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0000104	HP:0000104	Renal agenesis	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0000104	HP:0000104	Renal agenesis	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000104	HP:0000104	Renal agenesis	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0000104	HP:0000104	Renal agenesis	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000104	HP:0000104	Renal agenesis	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000104	HP:0000104	Renal agenesis	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	HP:0040284 - Very rare
HP:0000104	HP:0000104	Renal agenesis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0000104	HP:0000104	Renal agenesis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000104	HP:0000104	Renal agenesis	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000104	HP:0000104	Renal agenesis	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0000104	HP:0000104	Renal agenesis	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0000104	HP:0000104	Renal agenesis	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000104	HP:0000104	Renal agenesis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000104	HP:0000104	Renal agenesis	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000104	HP:0000104	Renal agenesis	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0000104	HP:0000104	Renal agenesis	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000104	HP:0000104	Renal agenesis	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0000104	HP:0000104	Renal agenesis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000104	HP:0000104	Renal agenesis	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000104	HP:0000104	Renal agenesis	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000104	HP:0000104	Renal agenesis	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0000104	HP:0000104	Renal agenesis	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0000104	HP:0000104	Renal agenesis	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0000104	HP:0000104	Renal agenesis	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000104	HP:0000104	Renal agenesis	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000104	HP:0000104	Renal agenesis	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000104	HP:0000104	Renal agenesis	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000104	HP:0000104	Renal agenesis	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0000104	HP:0000104	Renal agenesis	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0000104	HP:0000104	Renal agenesis	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0000104	HP:0000104	Renal agenesis	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000104	HP:0000104	Renal agenesis	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0000104	HP:0000104	Renal agenesis	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0000104	HP:0000104	Renal agenesis	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000104	HP:0000104	Renal agenesis	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000104	HP:0000104	Renal agenesis	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000104	HP:0000104	Renal agenesis	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000104	HP:0000104	Renal agenesis	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000104	HP:0000104	Renal agenesis	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000104	HP:0000104	Renal agenesis	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0000104	HP:0000104	Renal agenesis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0000104	HP:0000104	Renal agenesis	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0000104	HP:0000104	Renal agenesis	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0000104	HP:0000104	Renal agenesis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000104	HP:0000104	Renal agenesis	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000104	HP:0000104	Renal agenesis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000104	HP:0000104	Renal agenesis	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000104	HP:0000104	Renal agenesis	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000104	HP:0000104	Renal agenesis	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0000104	HP:0000104	Renal agenesis	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000104	HP:0000104	Renal agenesis	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000104	HP:0000104	Renal agenesis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0000104	HP:0000104	Renal agenesis	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000104	HP:0000104	Renal agenesis	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0000104	HP:0000104	Renal agenesis	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0000104	HP:0000104	Renal agenesis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000104	HP:0000104	Renal agenesis	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0000104	HP:0000104	Renal agenesis	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0000104	HP:0000104	Renal agenesis	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0000104	HP:0000104	Renal agenesis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0000104	HP:0000104	Renal agenesis	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000104	HP:0000104	Renal agenesis	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0000104	HP:0000104	Renal agenesis	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0000104	HP:0000104	Renal agenesis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000104	HP:0000104	Renal agenesis	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0000104	HP:0000104	Renal agenesis	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0000104	HP:0000104	Renal agenesis	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12
HP:0000104	HP:0000104	Renal agenesis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000104	HP:0000104	Renal agenesis	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000104	HP:0000104	Renal agenesis	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000104	HP:0000104	Renal agenesis	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0000104	HP:0000104	Renal agenesis	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000104	HP:0000104	Renal agenesis	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0000104	HP:0000104	Renal agenesis	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000104	HP:0000104	Renal agenesis	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0000104	HP:0000104	Renal agenesis	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0000104	HP:0000104	Renal agenesis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000104	HP:0000104	Renal agenesis	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000104	HP:0000104	Renal agenesis	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000104	HP:0000104	Renal agenesis	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000104	HP:0000104	Renal agenesis	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000104	HP:0000104	Renal agenesis	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000104	HP:0000104	Renal agenesis	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000104	HP:0000104	Renal agenesis	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0000104	HP:0000104	Renal agenesis	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0000104	HP:0000104	Renal agenesis	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000104	HP:0000104	Renal agenesis	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000104	HP:0000104	Renal agenesis	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	HP:0040281 - Very frequent	4
HP:0000104	HP:0000104	Renal agenesis	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome		4
HP:0000104	HP:0000104	Renal agenesis	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional	4
HP:0000104	HP:0000104	Renal agenesis	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism		4
HP:0000104	HP:0000104	Renal agenesis	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate	4
HP:0000104	HP:0000104	Renal agenesis	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0000104	HP:0000104	Renal agenesis	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000104	HP:0000104	Renal agenesis	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0000104	HP:0000104	Renal agenesis	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0000104	HP:0000104	Renal agenesis	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0000104	HP:0000122	Unilateral renal agenesis	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000104	HP:0000122	Unilateral renal agenesis	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000104	HP:0000122	Unilateral renal agenesis	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000104	HP:0000122	Unilateral renal agenesis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000104	HP:0000122	Unilateral renal agenesis	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000104	HP:0000122	Unilateral renal agenesis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000104	HP:0000122	Unilateral renal agenesis	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000104	HP:0000122	Unilateral renal agenesis	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000104	HP:0000122	Unilateral renal agenesis	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000104	HP:0000122	Unilateral renal agenesis	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000104	HP:0000122	Unilateral renal agenesis	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0000104	HP:0000122	Unilateral renal agenesis	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000104	HP:0010958	Bilateral renal agenesis	1	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000104	HP:0010958	Bilateral renal agenesis	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000104	HP:0000122	Unilateral renal agenesis	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000104	HP:0000122	Unilateral renal agenesis	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000104	HP:0000122	Unilateral renal agenesis	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000104	HP:0010958	Bilateral renal agenesis	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000104	HP:0000122	Unilateral renal agenesis	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000104	HP:0000122	Unilateral renal agenesis	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000104	HP:0010958	Bilateral renal agenesis	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000104	HP:0000122	Unilateral renal agenesis	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0000104	HP:0000122	Unilateral renal agenesis	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0000104	HP:0000122	Unilateral renal agenesis	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000104	HP:0000122	Unilateral renal agenesis	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0000104	HP:0000122	Unilateral renal agenesis	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000104	HP:0000122	Unilateral renal agenesis	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000104	HP:0000122	Unilateral renal agenesis	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0000104	HP:0000122	Unilateral renal agenesis	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000104	HP:0000122	Unilateral renal agenesis	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0000104	HP:0000122	Unilateral renal agenesis	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000104	HP:0010958	Bilateral renal agenesis	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000104	HP:0000122	Unilateral renal agenesis	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000104	HP:0000122	Unilateral renal agenesis	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000104	HP:0000122	Unilateral renal agenesis	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0000104	HP:0000122	Unilateral renal agenesis	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000104	HP:0000122	Unilateral renal agenesis	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000104	HP:0000122	Unilateral renal agenesis	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0000104	HP:0000122	Unilateral renal agenesis	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000104	HP:0000122	Unilateral renal agenesis	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000104	HP:0000122	Unilateral renal agenesis	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000104	HP:0000122	Unilateral renal agenesis	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000104	HP:0000122	Unilateral renal agenesis	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0000104	HP:0000122	Unilateral renal agenesis	1	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040283 - Occasional	4
HP:0000104	HP:0000122	Unilateral renal agenesis	1	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040283 - Occasional	4
HP:0000104	HP:0000122	Unilateral renal agenesis	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9

Genes (194) :ADA2 ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 APC2 ASPM ASXL2 ATN1 ATRX CCDC141 CCNQ CDC42 CDK5RAP2 CDK6 CDON CENPJ CEP135 CEP152 CEP63 CHD7 CIT COG6 COPB2 CPLANE1 CTU2 DCC DHCR24 DHCR7 DISP1 DLL1 DUSP6 DYRK1A ELN ERCC6 ERCC8 EYA1 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCL FBLN5 FEZF1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FLRT3 FOXH1 FREM1 FREM2 FUZ GAS1 GATA1 GATA3 GDF6 GFRA1 GLI2 GLI3 GNB2 GREB1L H4C9 HESX1 HNF1B HOXD13 HS2ST1 HS6ST1 IDH1 IL17RD INSL3 ITGA8 KCTD1 KIAA0753 KIF14 KIF7 KNL1 KNSTRN KYNU LMBRD1 LRP4 MBTPS2 MCM7 MCPH1 METTL5 MFSD2A MKS1 NADSYN1 NCAPD3 NDNF NDUFAF3 NDUFB8 NDUFS2 NODAL NSD1 NSDHL OFD1 PBX1 PDE6D PHC1 PHGDH PIEZO2 PIK3C2A PIK3CD POR PPFIBP1 PPP2R1A PPP2R3C PRKAR1A PROK2 PROKR2 PTCH1 PTPN11 PUF60 PYCR2 RET RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTTN SALL4 SASS6 SCO2 SDCCAG8 SEMA3A SETD2 SF3B2 SF3B4 SH2B1 SHH SIX1 SIX3 SON SOX10 SPRY4 SRCAP STIL STS SUFU SURF1 TACR3 TAF13 TBC1D24 TBX1 TCTN3 TDGF1 TFAP2A TGIF1 THOC6 TMCO1 TMEM216 TMEM67 TNXB TOPORS TP63 TRAPPC10 TRAPPC14 TSR2 TXNL4A VANGL1 WBP11 WDR11 WDR62 WLS WNT3 WNT4 WNT9B XRCC4 ZIC2 ZIC3 ZMYM2

Diseases (116) :ORPHA:124 ORPHA:90348 OMIM:616603 OMIM:618504 ORPHA:2512 OMIM:619504 OMIM:308700 ORPHA:478 ORPHA:821 OMIM:617190 OMIM:618494 OMIM:301040 ORPHA:140952 ORPHA:487796 OMIM:616737 ORPHA:280200 OMIM:214800 OMIM:617090 OMIM:614576 ORPHA:2754 OMIM:277170 OMIM:618142 ORPHA:35107 OMIM:270400 ORPHA:268261 ORPHA:464311 ORPHA:90324 OMIM:113650 OMIM:227650 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:614083 OMIM:149730 ORPHA:1848 OMIM:608980 ORPHA:217266 OMIM:617666 ORPHA:3027 ORPHA:2237 OMIM:118100 OMIM:619887 ORPHA:672 OMIM:619503 OMIM:617805 OMIM:619951 ORPHA:93111 OMIM:137920 ORPHA:887 OMIM:619194 ORPHA:99646 OMIM:219050 OMIM:191830 OMIM:181270 OMIM:616258 ORPHA:221139 OMIM:617661 ORPHA:79284 OMIM:212780 OMIM:308205 OMIM:249000 OMIM:618845 ORPHA:70474 OMIM:308050 OMIM:617641 OMIM:256520 ORPHA:2461 OMIM:618440 ORPHA:95699 OMIM:620024 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:101800 OMIM:244200 OMIM:151100 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:614900 ORPHA:468631 OMIM:607323 OMIM:615993 OMIM:164210 OMIM:154400 ORPHA:245 ORPHA:261222 ORPHA:500150 OMIM:617140 ORPHA:2044 ORPHA:281090 OMIM:220500 OMIM:188400 ORPHA:2753 ORPHA:1297 OMIM:113620 OMIM:613680 ORPHA:363444 OMIM:213980 OMIM:216360 OMIM:606408 OMIM:604292 OMIM:608572 OMIM:619227 OMIM:619648 OMIM:273395 OMIM:611812 ORPHA:3109 ORPHA:247768 OMIM:158330 ORPHA:139466 OMIM:616541 OMIM:306955 OMIM:619522

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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