Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal renal morphology (HP:0012210)

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

..Starting node
..Renal hypoplasia (HP:0000089)

Term ID:

Name:

Renal hypoplasia

Synonym:

Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys

Definition:

Hypoplasia of the kidney.

Comments:

Reference:

HP:0000089

Genes and Diseases:

Child Nodes:

........

Unilateral renal hypoplasia (HP:0012583)

........

Bilateral renal hypoplasia (HP:0012584)

Sister Nodes:

Renal agenesis (HP:0000104)

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:0000089	HP:0000089	Renal hypoplasia	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000089	HP:0000089	Renal hypoplasia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000089	HP:0000089	Renal hypoplasia	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0000089	HP:0000089	Renal hypoplasia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000089	HP:0000089	Renal hypoplasia	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare	16
HP:0000089	HP:0000089	Renal hypoplasia	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0000089	HP:0000089	Renal hypoplasia	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000089	HP:0000089	Renal hypoplasia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000089	HP:0000089	Renal hypoplasia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000089	HP:0000089	Renal hypoplasia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000089	HP:0000089	Renal hypoplasia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000089	HP:0000089	Renal hypoplasia	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000089	HP:0000089	Renal hypoplasia	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	.	2
HP:0000089	HP:0000089	Renal hypoplasia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000089	HP:0000089	Renal hypoplasia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000089	HP:0000089	Renal hypoplasia	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0000089	HP:0000089	Renal hypoplasia	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000089	HP:0000089	Renal hypoplasia	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0000089	HP:0000089	Renal hypoplasia	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	27
HP:0000089	HP:0000089	Renal hypoplasia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000089	HP:0000089	Renal hypoplasia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000089	HP:0000089	Renal hypoplasia	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional	9
HP:0000089	HP:0000089	Renal hypoplasia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0000089	HP:0000089	Renal hypoplasia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000089	HP:0000089	Renal hypoplasia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000089	HP:0000089	Renal hypoplasia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000089	HP:0000089	Renal hypoplasia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000089	HP:0000089	Renal hypoplasia	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000089	HP:0000089	Renal hypoplasia	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000089	HP:0000089	Renal hypoplasia	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000089	HP:0000089	Renal hypoplasia	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000089	HP:0000089	Renal hypoplasia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0000089	HP:0000089	Renal hypoplasia	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent	114
HP:0000089	HP:0000089	Renal hypoplasia	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000089	HP:0000089	Renal hypoplasia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000089	HP:0000089	Renal hypoplasia	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000089	HP:0000089	Renal hypoplasia	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000089	HP:0000089	Renal hypoplasia	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000089	HP:0000089	Renal hypoplasia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000089	HP:0000089	Renal hypoplasia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0000089	HP:0000089	Renal hypoplasia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0000089	HP:0000089	Renal hypoplasia	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0000089	HP:0000089	Renal hypoplasia	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0000089	HP:0000089	Renal hypoplasia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000089	HP:0000089	Renal hypoplasia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000089	HP:0000089	Renal hypoplasia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0000089	HP:0000089	Renal hypoplasia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000089	HP:0000089	Renal hypoplasia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000089	HP:0000089	Renal hypoplasia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000089	HP:0000089	Renal hypoplasia	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000089	HP:0000089	Renal hypoplasia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000089	HP:0000089	Renal hypoplasia	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0000089	HP:0000089	Renal hypoplasia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000089	HP:0000089	Renal hypoplasia	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000089	HP:0000089	Renal hypoplasia	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000089	HP:0000089	Renal hypoplasia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0000089	HP:0000089	Renal hypoplasia	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0000089	HP:0000089	Renal hypoplasia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0000089	HP:0000089	Renal hypoplasia	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000089	HP:0000089	Renal hypoplasia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000089	HP:0000089	Renal hypoplasia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000089	HP:0000089	Renal hypoplasia	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040284 - Very rare	193
HP:0000089	HP:0000089	Renal hypoplasia	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040284 - Very rare	128
HP:0000089	HP:0000089	Renal hypoplasia	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000089	HP:0000089	Renal hypoplasia	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0000089	HP:0000089	Renal hypoplasia	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	HP:0040284 - Very rare	9
HP:0000089	HP:0000089	Renal hypoplasia	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0000089	HP:0000089	Renal hypoplasia	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000089	HP:0000089	Renal hypoplasia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0000089	HP:0000089	Renal hypoplasia	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0000089	HP:0000089	Renal hypoplasia	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0000089	HP:0000089	Renal hypoplasia	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0000089	HP:0000089	Renal hypoplasia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000089	HP:0000089	Renal hypoplasia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000089	HP:0000089	Renal hypoplasia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000089	HP:0000089	Renal hypoplasia	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0000089	HP:0000089	Renal hypoplasia	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000089	HP:0000089	Renal hypoplasia	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000089	HP:0000089	Renal hypoplasia	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0000089	HP:0000089	Renal hypoplasia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000089	HP:0000089	Renal hypoplasia	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000089	HP:0000089	Renal hypoplasia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	HP:0040283 - Occasional	494
HP:0000089	HP:0000089	Renal hypoplasia	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000089	HP:0000089	Renal hypoplasia	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0000089	HP:0000089	Renal hypoplasia	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000089	HP:0000089	Renal hypoplasia	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	HP:0040283 - Occasional	39
HP:0000089	HP:0000089	Renal hypoplasia	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000089	HP:0000089	Renal hypoplasia	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent	39
HP:0000089	HP:0000089	Renal hypoplasia	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000089	HP:0000089	Renal hypoplasia	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:0000089	HP:0000089	Renal hypoplasia	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000089	HP:0000089	Renal hypoplasia	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0000089	HP:0000089	Renal hypoplasia	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000089	HP:0000089	Renal hypoplasia	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0000089	HP:0000089	Renal hypoplasia	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000089	HP:0000089	Renal hypoplasia	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0000089	HP:0000089	Renal hypoplasia	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	HP:0040283 - Occasional	28
HP:0000089	HP:0000089	Renal hypoplasia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000089	HP:0000089	Renal hypoplasia	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0000089	HP:0000089	Renal hypoplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000089	HP:0000089	Renal hypoplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000089	HP:0000089	Renal hypoplasia	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0000089	HP:0000089	Renal hypoplasia	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0000089	HP:0000089	Renal hypoplasia	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000089	HP:0000089	Renal hypoplasia	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0000089	HP:0000089	Renal hypoplasia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0000089	HP:0000089	Renal hypoplasia	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0000089	HP:0000089	Renal hypoplasia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000089	HP:0000089	Renal hypoplasia	0	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000089	HP:0000089	Renal hypoplasia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0000089	HP:0000089	Renal hypoplasia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000089	HP:0000089	Renal hypoplasia	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000089	HP:0000089	Renal hypoplasia	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000089	HP:0000089	Renal hypoplasia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000089	HP:0000089	Renal hypoplasia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000089	HP:0000089	Renal hypoplasia	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000089	HP:0000089	Renal hypoplasia	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000089	HP:0000089	Renal hypoplasia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000089	HP:0000089	Renal hypoplasia	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000089	HP:0000089	Renal hypoplasia	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000089	HP:0000089	Renal hypoplasia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000089	HP:0000089	Renal hypoplasia	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000089	HP:0000089	Renal hypoplasia	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0000089	HP:0000089	Renal hypoplasia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0000089	HP:0000089	Renal hypoplasia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000089	HP:0000089	Renal hypoplasia	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000089	HP:0000089	Renal hypoplasia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000089	HP:0000089	Renal hypoplasia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000089	HP:0000089	Renal hypoplasia	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	.	95
HP:0000089	HP:0000089	Renal hypoplasia	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000089	HP:0000089	Renal hypoplasia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0000089	HP:0000089	Renal hypoplasia	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000089	HP:0000089	Renal hypoplasia	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000089	HP:0000089	Renal hypoplasia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000089	HP:0000089	Renal hypoplasia	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000089	HP:0012584	Bilateral renal hypoplasia	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000089	HP:0012583	Unilateral renal hypoplasia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000089	HP:0012583	Unilateral renal hypoplasia	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0000089	HP:0012584	Bilateral renal hypoplasia	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000089	HP:0012583	Unilateral renal hypoplasia	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000089	HP:0012584	Bilateral renal hypoplasia	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000089	HP:0012584	Bilateral renal hypoplasia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (130) :AFF3 ARID1B ARL6 ARVCF ATN1 ATPAF2 ATRX B3GLCT BAZ1B BCL7B BCOR BMP4 BUD23 CENPF CEP120 CEP55 CHD7 CLIP2 COMT COX14 DACT1 DCDC2 DCHS1 DHCR7 DLL4 DNAJC30 DYNC2H1 DYNC2I1 DYNC2I2 EIF4H ELN ERCC6 ERCC8 FANCF FANCI FANCL FAT4 FBXW11 FGF10 FGFR2 FGFR3 FKBP6 FRAS1 FREM2 GEMIN4 GLI3 GP1BB GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C3 H4C5 HAAO HIRA HMGA2 HNF1B HRAS HSPA9 IFT80 INTU JAG1 JMJD1C KCNJ2 KCNJ5 KCTD1 KIF14 KYNU LEMD3 LIMK1 LRP4 MBTPS2 MCM5 MDM2 METTL27 MLXIPL MUC1 MYOD1 NAA10 NCAPG2 NCF1 NFIA NIPBL NODAL NOTCH2 NSD2 PAX2 PBX1 PDE6D PIEZO2 PIK3CA PLXNA1 PPP1R15B PQBP1 PRIM1 PRMT7 PUF60 RAD21 RARB REN RFC2 RFWD3 RMND1 RNU4ATAC ROBO2 RPS19 RREB1 SALL1 SALL4 SEC24C SKIC2 SKIC3 SLC30A9 STRA6 STX1A TBL2 TBX1 TBX18 TBX3 TMEM270 TMEM67 TRRAP TXNL4A UFD1 VPS37D WDR19 WDR35 XRCC4 ZNF699 ZPR1

Diseases (101) :OMIM:619297 OMIM:135900 OMIM:600151 ORPHA:567 OMIM:618494 OMIM:604273 OMIM:309580 OMIM:261540 ORPHA:904 OMIM:309800 OMIM:607932 OMIM:243605 OMIM:616300 OMIM:236500 OMIM:214800 OMIM:619053 ORPHA:857 ORPHA:84081 ORPHA:314679 OMIM:601390 OMIM:270400 OMIM:616589 ORPHA:93271 OMIM:194050 ORPHA:90324 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:615546 OMIM:618914 ORPHA:2363 OMIM:219000 ORPHA:2052 OMIM:617666 OMIM:617913 OMIM:146510 OMIM:619758 OMIM:619950 OMIM:617660 ORPHA:94063 OMIM:137920 ORPHA:2874 OMIM:616854 OMIM:617926 OMIM:118450 ORPHA:37553 OMIM:181270 OMIM:616258 OMIM:617914 OMIM:617661 OMIM:212780 ORPHA:85284 OMIM:617564 OMIM:618681 OMIM:174000 OMIM:618975 OMIM:618460 OMIM:613735 OMIM:122470 OMIM:270100 OMIM:610205 OMIM:619695 OMIM:616002 OMIM:120330 ORPHA:1475 ORPHA:97362 OMIM:617641 OMIM:615665 OMIM:248700 OMIM:612918 OMIM:619955 OMIM:616817 OMIM:309500 OMIM:620005 ORPHA:464288 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:611376 ORPHA:2470 OMIM:613092 OMIM:617784 OMIM:614922 OMIM:210710 OMIM:610878 OMIM:105650 OMIM:107480 OMIM:607323 ORPHA:84064 OMIM:617595 OMIM:601186 OMIM:143400 ORPHA:3138 OMIM:618454 OMIM:608572 OMIM:614377 OMIM:614376 OMIM:614091 OMIM:616541 OMIM:619488 OMIM:619321

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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