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:
Abnormality of the genitourinary system (HP:0000119)

Parent Node:
Abnormality of the urinary system (HP:0000079)

..Starting node
..Abnormality of the lower urinary tract (HP:0010936)

Term ID:

10936

Name:

Abnormality of the lower urinary tract

Synonym:

Definition:

An abnormality of the lower urinary tract.

Comments:

Reference:

HP:0010936

Genes and Diseases:

Child Nodes:

........

Abnormality of the bladder (HP:0000014)

................... HP:0000009 Functional abnormality of the bladder
................... HP:0025487 Abnormality of bladder morphology

........

Abnormality of the urethra (HP:0000795)

................... HP:0000068 Urethral atresia
................... HP:0000796 Urethral obstruction
................... HP:0008706 Distal urethral duplication
................... HP:0008722 Urethral diverticulum
................... HP:0010480 Urethral fistula
................... HP:0025417 Patulous urethra
................... HP:0030723 Congenital megalourethra
................... HP:0100517 Neoplasm of the urethra
................... HP:0100627 Displacement of the external urethral meatus
................... HP:0100779 Urogenital sinus anomaly
................... HP:0100821 Urethrocele
................... HP:0500006 Urethritis

Sister Nodes:

Abnormality of the upper urinary tract (HP:0010935)

Abnormality of the urinary system physiology (HP:0011277)

Urinary tract atresia (HP:0000809)

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:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1		260
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome		493
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	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:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy		1
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency		149
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0010936	Abnormality of the lower urinary tract	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010936	HP:0000014	Abnormality of the bladder	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0010936	HP:0000014	Abnormality of the bladder	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010936	HP:0000795	Abnormality of the urethra	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0010936	HP:0000014	Abnormality of the bladder	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0010936	HP:0000795	Abnormality of the urethra	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0010936	HP:0000014	Abnormality of the bladder	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010936	HP:0000014	Abnormality of the bladder	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010936	HP:0000014	Abnormality of the bladder	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010936	HP:0000014	Abnormality of the bladder	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010936	HP:0000014	Abnormality of the bladder	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1		260
HP:0010936	HP:0000014	Abnormality of the bladder	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0010936	HP:0000014	Abnormality of the bladder	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010936	HP:0000795	Abnormality of the urethra	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010936	HP:0000795	Abnormality of the urethra	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040283 - Occasional	114
HP:0010936	HP:0000014	Abnormality of the bladder	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0010936	HP:0000014	Abnormality of the bladder	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0010936	HP:0000014	Abnormality of the bladder	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010936	HP:0000014	Abnormality of the bladder	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0010936	HP:0000014	Abnormality of the bladder	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0010936	HP:0000014	Abnormality of the bladder	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010936	HP:0000014	Abnormality of the bladder	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0010936	HP:0000795	Abnormality of the urethra	1	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0010936	HP:0000795	Abnormality of the urethra	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0010936	HP:0000795	Abnormality of the urethra	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010936	HP:0000795	Abnormality of the urethra	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0010936	HP:0000795	Abnormality of the urethra	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0010936	HP:0000014	Abnormality of the bladder	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0010936	HP:0000014	Abnormality of the bladder	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0010936	HP:0000014	Abnormality of the bladder	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010936	HP:0000014	Abnormality of the bladder	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0010936	HP:0000795	Abnormality of the urethra	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010936	HP:0000795	Abnormality of the urethra	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0010936	HP:0000795	Abnormality of the urethra	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010936	HP:0000795	Abnormality of the urethra	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0010936	HP:0000014	Abnormality of the bladder	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0010936	HP:0000014	Abnormality of the bladder	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0010936	HP:0000795	Abnormality of the urethra	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010936	HP:0000795	Abnormality of the urethra	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010936	HP:0000014	Abnormality of the bladder	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0010936	HP:0000795	Abnormality of the urethra	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010936	HP:0000014	Abnormality of the bladder	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010936	HP:0000014	Abnormality of the bladder	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0010936	HP:0000795	Abnormality of the urethra	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0010936	HP:0000795	Abnormality of the urethra	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010936	HP:0000795	Abnormality of the urethra	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0010936	HP:0000014	Abnormality of the bladder	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000014	Abnormality of the bladder	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0000014	Abnormality of the bladder	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010936	HP:0000014	Abnormality of the bladder	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010936	HP:0000795	Abnormality of the urethra	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010936	HP:0000014	Abnormality of the bladder	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0010936	HP:0000014	Abnormality of the bladder	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0010936	HP:0000014	Abnormality of the bladder	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0010936	HP:0000014	Abnormality of the bladder	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0010936	HP:0000014	Abnormality of the bladder	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0010936	HP:0000014	Abnormality of the bladder	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0010936	HP:0000014	Abnormality of the bladder	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010936	HP:0000795	Abnormality of the urethra	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0010936	HP:0000014	Abnormality of the bladder	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0010936	HP:0000014	Abnormality of the bladder	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010936	HP:0000795	Abnormality of the urethra	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010936	HP:0000795	Abnormality of the urethra	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0010936	HP:0000014	Abnormality of the bladder	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0010936	HP:0000014	Abnormality of the bladder	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0010936	HP:0000014	Abnormality of the bladder	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0010936	HP:0000014	Abnormality of the bladder	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0010936	HP:0000014	Abnormality of the bladder	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0010936	HP:0000795	Abnormality of the urethra	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0010936	HP:0000014	Abnormality of the bladder	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0010936	HP:0000014	Abnormality of the bladder	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010936	HP:0000795	Abnormality of the urethra	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0010936	HP:0000795	Abnormality of the urethra	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010936	HP:0000014	Abnormality of the bladder	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0010936	HP:0000014	Abnormality of the bladder	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0010936	HP:0000014	Abnormality of the bladder	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0010936	HP:0000014	Abnormality of the bladder	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0010936	HP:0000795	Abnormality of the urethra	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0010936	HP:0000014	Abnormality of the bladder	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0010936	HP:0000014	Abnormality of the bladder	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0010936	HP:0000014	Abnormality of the bladder	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010936	HP:0000795	Abnormality of the urethra	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010936	HP:0000014	Abnormality of the bladder	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0000795	Abnormality of the urethra	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0000795	Abnormality of the urethra	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0010936	HP:0000795	Abnormality of the urethra	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010936	HP:0000014	Abnormality of the bladder	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000014	Abnormality of the bladder	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0010936	HP:0000795	Abnormality of the urethra	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010936	HP:0000014	Abnormality of the bladder	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010936	HP:0000795	Abnormality of the urethra	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010936	HP:0000014	Abnormality of the bladder	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010936	HP:0000795	Abnormality of the urethra	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010936	HP:0000014	Abnormality of the bladder	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0010936	HP:0000795	Abnormality of the urethra	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0010936	HP:0000795	Abnormality of the urethra	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010936	HP:0000795	Abnormality of the urethra	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0010936	HP:0000014	Abnormality of the bladder	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0010936	HP:0000014	Abnormality of the bladder	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0010936	HP:0000014	Abnormality of the bladder	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0010936	HP:0000795	Abnormality of the urethra	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010936	HP:0000014	Abnormality of the bladder	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0010936	HP:0000014	Abnormality of the bladder	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010936	HP:0000014	Abnormality of the bladder	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0010936	HP:0000795	Abnormality of the urethra	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0000795	Abnormality of the urethra	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0000795	Abnormality of the urethra	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0010936	HP:0000795	Abnormality of the urethra	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0010936	HP:0000014	Abnormality of the bladder	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0010936	HP:0000014	Abnormality of the bladder	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010936	HP:0000795	Abnormality of the urethra	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0000014	Abnormality of the bladder	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0010936	HP:0000795	Abnormality of the urethra	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0010936	HP:0000014	Abnormality of the bladder	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0010936	HP:0000014	Abnormality of the bladder	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010936	HP:0000795	Abnormality of the urethra	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0010936	HP:0000014	Abnormality of the bladder	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0010936	HP:0000795	Abnormality of the urethra	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010936	HP:0000795	Abnormality of the urethra	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010936	HP:0000795	Abnormality of the urethra	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0010936	HP:0000014	Abnormality of the bladder	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0000795	Abnormality of the urethra	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0000795	Abnormality of the urethra	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010936	HP:0000014	Abnormality of the bladder	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0010936	HP:0000014	Abnormality of the bladder	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010936	HP:0000014	Abnormality of the bladder	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0010936	HP:0000014	Abnormality of the bladder	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0010936	HP:0000014	Abnormality of the bladder	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010936	HP:0000014	Abnormality of the bladder	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0010936	HP:0000795	Abnormality of the urethra	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010936	HP:0000014	Abnormality of the bladder	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000795	Abnormality of the urethra	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000014	Abnormality of the bladder	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010936	HP:0000014	Abnormality of the bladder	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010936	HP:0000014	Abnormality of the bladder	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010936	HP:0000795	Abnormality of the urethra	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010936	HP:0000795	Abnormality of the urethra	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0010936	HP:0000014	Abnormality of the bladder	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010936	HP:0000014	Abnormality of the bladder	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0010936	HP:0000014	Abnormality of the bladder	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0010936	HP:0000014	Abnormality of the bladder	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040283 - Occasional	18
HP:0010936	HP:0000795	Abnormality of the urethra	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0010936	HP:0000795	Abnormality of the urethra	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0010936	HP:0000795	Abnormality of the urethra	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0010936	HP:0000795	Abnormality of the urethra	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0010936	HP:0000795	Abnormality of the urethra	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0010936	HP:0000795	Abnormality of the urethra	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0010936	HP:0000795	Abnormality of the urethra	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0010936	HP:0000014	Abnormality of the bladder	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0010936	HP:0000014	Abnormality of the bladder	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010936	HP:0000014	Abnormality of the bladder	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0010936	HP:0000014	Abnormality of the bladder	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0010936	HP:0000014	Abnormality of the bladder	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0010936	HP:0000014	Abnormality of the bladder	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010936	HP:0000014	Abnormality of the bladder	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010936	HP:0000014	Abnormality of the bladder	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010936	HP:0000014	Abnormality of the bladder	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010936	HP:0000795	Abnormality of the urethra	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0010936	HP:0000795	Abnormality of the urethra	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010936	HP:0000014	Abnormality of the bladder	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010936	HP:0000014	Abnormality of the bladder	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0000795	Abnormality of the urethra	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0000014	Abnormality of the bladder	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010936	HP:0000795	Abnormality of the urethra	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0010936	HP:0000014	Abnormality of the bladder	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0010936	HP:0000795	Abnormality of the urethra	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010936	HP:0000795	Abnormality of the urethra	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010936	HP:0000795	Abnormality of the urethra	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0010936	HP:0000014	Abnormality of the bladder	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010936	HP:0000014	Abnormality of the bladder	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0000014	Abnormality of the bladder	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0010936	HP:0000014	Abnormality of the bladder	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0000795	Abnormality of the urethra	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010936	HP:0000795	Abnormality of the urethra	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010936	HP:0000014	Abnormality of the bladder	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0010936	HP:0000014	Abnormality of the bladder	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome		493
HP:0010936	HP:0000795	Abnormality of the urethra	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010936	HP:0000014	Abnormality of the bladder	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010936	HP:0000795	Abnormality of the urethra	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010936	HP:0000795	Abnormality of the urethra	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010936	HP:0000795	Abnormality of the urethra	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0010936	HP:0000014	Abnormality of the bladder	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0010936	HP:0000014	Abnormality of the bladder	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0010936	HP:0000014	Abnormality of the bladder	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0010936	HP:0000795	Abnormality of the urethra	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010936	HP:0000795	Abnormality of the urethra	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0010936	HP:0000014	Abnormality of the bladder	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0000795	Abnormality of the urethra	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0000014	Abnormality of the bladder	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010936	HP:0000795	Abnormality of the urethra	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0010936	HP:0000795	Abnormality of the urethra	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0010936	HP:0000795	Abnormality of the urethra	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0010936	HP:0000014	Abnormality of the bladder	1	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0010936	HP:0000014	Abnormality of the bladder	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0010936	HP:0000014	Abnormality of the bladder	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0010936	HP:0000014	Abnormality of the bladder	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0010936	HP:0000795	Abnormality of the urethra	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0010936	HP:0000014	Abnormality of the bladder	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0010936	HP:0000014	Abnormality of the bladder	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0010936	HP:0000014	Abnormality of the bladder	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0010936	HP:0000014	Abnormality of the bladder	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0010936	HP:0000014	Abnormality of the bladder	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010936	HP:0000014	Abnormality of the bladder	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010936	HP:0000795	Abnormality of the urethra	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0010936	HP:0000014	Abnormality of the bladder	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0010936	HP:0000795	Abnormality of the urethra	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010936	HP:0000795	Abnormality of the urethra	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0010936	HP:0000795	Abnormality of the urethra	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0010936	HP:0000795	Abnormality of the urethra	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease		86
HP:0010936	HP:0000014	Abnormality of the bladder	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010936	HP:0000014	Abnormality of the bladder	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010936	HP:0000014	Abnormality of the bladder	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010936	HP:0000795	Abnormality of the urethra	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010936	HP:0000014	Abnormality of the bladder	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010936	HP:0000014	Abnormality of the bladder	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010936	HP:0000014	Abnormality of the bladder	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010936	HP:0000795	Abnormality of the urethra	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010936	HP:0000795	Abnormality of the urethra	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010936	HP:0000795	Abnormality of the urethra	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010936	HP:0000795	Abnormality of the urethra	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010936	HP:0000014	Abnormality of the bladder	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0010936	HP:0000014	Abnormality of the bladder	1	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0010936	HP:0000795	Abnormality of the urethra	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000795	Abnormality of the urethra	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000795	Abnormality of the urethra	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000795	Abnormality of the urethra	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0010936	HP:0000014	Abnormality of the bladder	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010936	HP:0000014	Abnormality of the bladder	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010936	HP:0000795	Abnormality of the urethra	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0010936	HP:0000795	Abnormality of the urethra	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0010936	HP:0000795	Abnormality of the urethra	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010936	HP:0000795	Abnormality of the urethra	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010936	HP:0000795	Abnormality of the urethra	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010936	HP:0000014	Abnormality of the bladder	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0010936	HP:0000014	Abnormality of the bladder	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000014	Abnormality of the bladder	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0010936	HP:0000014	Abnormality of the bladder	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0010936	HP:0000014	Abnormality of the bladder	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0010936	HP:0000795	Abnormality of the urethra	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0010936	HP:0000795	Abnormality of the urethra	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0010936	HP:0000014	Abnormality of the bladder	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0010936	HP:0000014	Abnormality of the bladder	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0000014	Abnormality of the bladder	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3		83
HP:0010936	HP:0000014	Abnormality of the bladder	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0010936	HP:0000795	Abnormality of the urethra	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0010936	HP:0000014	Abnormality of the bladder	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010936	HP:0000014	Abnormality of the bladder	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0040281 - Very frequent	31
HP:0010936	HP:0000795	Abnormality of the urethra	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0010936	HP:0000795	Abnormality of the urethra	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0010936	HP:0000014	Abnormality of the bladder	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0010936	HP:0000014	Abnormality of the bladder	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0010936	HP:0000795	Abnormality of the urethra	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0010936	HP:0000014	Abnormality of the bladder	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0010936	HP:0000795	Abnormality of the urethra	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0010936	HP:0000795	Abnormality of the urethra	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010936	HP:0000014	Abnormality of the bladder	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0010936	HP:0000795	Abnormality of the urethra	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010936	HP:0000014	Abnormality of the bladder	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0010936	HP:0000014	Abnormality of the bladder	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0010936	HP:0000795	Abnormality of the urethra	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0010936	HP:0000014	Abnormality of the bladder	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0000795	Abnormality of the urethra	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0000014	Abnormality of the bladder	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010936	HP:0000795	Abnormality of the urethra	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0010936	HP:0000795	Abnormality of the urethra	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0010936	HP:0000795	Abnormality of the urethra	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0010936	HP:0000014	Abnormality of the bladder	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0000795	Abnormality of the urethra	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0000014	Abnormality of the bladder	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0010936	HP:0000014	Abnormality of the bladder	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0010936	HP:0000014	Abnormality of the bladder	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010936	HP:0000795	Abnormality of the urethra	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010936	HP:0000014	Abnormality of the bladder	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010936	HP:0000014	Abnormality of the bladder	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010936	HP:0000795	Abnormality of the urethra	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010936	HP:0000795	Abnormality of the urethra	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010936	HP:0000014	Abnormality of the bladder	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0010936	HP:0000795	Abnormality of the urethra	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010936	HP:0000795	Abnormality of the urethra	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010936	HP:0000795	Abnormality of the urethra	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0010936	HP:0000014	Abnormality of the bladder	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0010936	HP:0000014	Abnormality of the bladder	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0010936	HP:0000795	Abnormality of the urethra	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010936	HP:0000795	Abnormality of the urethra	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010936	HP:0000795	Abnormality of the urethra	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010936	HP:0000795	Abnormality of the urethra	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0010936	HP:0000014	Abnormality of the bladder	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010936	HP:0000795	Abnormality of the urethra	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0010936	HP:0000014	Abnormality of the bladder	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0010936	HP:0000014	Abnormality of the bladder	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010936	HP:0000014	Abnormality of the bladder	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0010936	HP:0000014	Abnormality of the bladder	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0010936	HP:0000795	Abnormality of the urethra	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0010936	HP:0000014	Abnormality of the bladder	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010936	HP:0000795	Abnormality of the urethra	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0000014	Abnormality of the bladder	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010936	HP:0000795	Abnormality of the urethra	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0000014	Abnormality of the bladder	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010936	HP:0000795	Abnormality of the urethra	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0000795	Abnormality of the urethra	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010936	HP:0000014	Abnormality of the bladder	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0010936	HP:0000014	Abnormality of the bladder	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0010936	HP:0000014	Abnormality of the bladder	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0000795	Abnormality of the urethra	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0010936	HP:0000795	Abnormality of the urethra	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0000795	Abnormality of the urethra	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0000014	Abnormality of the bladder	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010936	HP:0000795	Abnormality of the urethra	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0010936	HP:0000014	Abnormality of the bladder	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0010936	HP:0000014	Abnormality of the bladder	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000014	Abnormality of the bladder	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0010936	HP:0000795	Abnormality of the urethra	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010936	HP:0000795	Abnormality of the urethra	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0010936	HP:0000795	Abnormality of the urethra	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010936	HP:0000014	Abnormality of the bladder	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0000795	Abnormality of the urethra	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010936	HP:0000795	Abnormality of the urethra	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0010936	HP:0000795	Abnormality of the urethra	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0000795	Abnormality of the urethra	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0000014	Abnormality of the bladder	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010936	HP:0000795	Abnormality of the urethra	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0000014	Abnormality of the bladder	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000795	Abnormality of the urethra	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000014	Abnormality of the bladder	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0010936	HP:0000014	Abnormality of the bladder	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010936	HP:0000014	Abnormality of the bladder	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0000795	Abnormality of the urethra	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0010936	HP:0000014	Abnormality of the bladder	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010936	HP:0000795	Abnormality of the urethra	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0000795	Abnormality of the urethra	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0010936	HP:0000014	Abnormality of the bladder	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010936	HP:0000014	Abnormality of the bladder	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000795	Abnormality of the urethra	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0010936	HP:0000014	Abnormality of the bladder	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0010936	HP:0000795	Abnormality of the urethra	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0010936	HP:0000014	Abnormality of the bladder	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0010936	HP:0000795	Abnormality of the urethra	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0010936	HP:0000014	Abnormality of the bladder	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0010936	HP:0000795	Abnormality of the urethra	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0010936	HP:0000795	Abnormality of the urethra	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0010936	HP:0000014	Abnormality of the bladder	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0010936	HP:0000014	Abnormality of the bladder	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0010936	HP:0000014	Abnormality of the bladder	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0010936	HP:0000795	Abnormality of the urethra	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0010936	HP:0000795	Abnormality of the urethra	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0010936	HP:0000795	Abnormality of the urethra	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0010936	HP:0000014	Abnormality of the bladder	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0010936	HP:0000795	Abnormality of the urethra	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010936	HP:0000014	Abnormality of the bladder	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010936	HP:0000014	Abnormality of the bladder	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010936	HP:0000795	Abnormality of the urethra	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0010936	HP:0000014	Abnormality of the bladder	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0010936	HP:0000014	Abnormality of the bladder	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0010936	HP:0000014	Abnormality of the bladder	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010936	HP:0000795	Abnormality of the urethra	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010936	HP:0000014	Abnormality of the bladder	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010936	HP:0000795	Abnormality of the urethra	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010936	HP:0000014	Abnormality of the bladder	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0000795	Abnormality of the urethra	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0000795	Abnormality of the urethra	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0010936	HP:0000795	Abnormality of the urethra	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0010936	HP:0000795	Abnormality of the urethra	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010936	HP:0000014	Abnormality of the bladder	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0010936	HP:0000014	Abnormality of the bladder	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0010936	HP:0000014	Abnormality of the bladder	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0010936	HP:0000014	Abnormality of the bladder	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0010936	HP:0000795	Abnormality of the urethra	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010936	HP:0000795	Abnormality of the urethra	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010936	HP:0000014	Abnormality of the bladder	1	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0000795	Abnormality of the urethra	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0000795	Abnormality of the urethra	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0000795	Abnormality of the urethra	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0000795	Abnormality of the urethra	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010936	HP:0000795	Abnormality of the urethra	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0010936	HP:0000795	Abnormality of the urethra	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0010936	HP:0000795	Abnormality of the urethra	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0010936	HP:0000795	Abnormality of the urethra	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0000795	Abnormality of the urethra	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0010936	HP:0000795	Abnormality of the urethra	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010936	HP:0000014	Abnormality of the bladder	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0010936	HP:0000795	Abnormality of the urethra	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0010936	HP:0000014	Abnormality of the bladder	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0010936	HP:0000795	Abnormality of the urethra	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0010936	HP:0000795	Abnormality of the urethra	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010936	HP:0000014	Abnormality of the bladder	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:0010936	HP:0000014	Abnormality of the bladder	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0010936	HP:0000014	Abnormality of the bladder	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0010936	HP:0000795	Abnormality of the urethra	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010936	HP:0000795	Abnormality of the urethra	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0010936	HP:0000014	Abnormality of the bladder	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0010936	HP:0000014	Abnormality of the bladder	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0010936	HP:0000014	Abnormality of the bladder	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0010936	HP:0000795	Abnormality of the urethra	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0010936	HP:0000014	Abnormality of the bladder	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0010936	HP:0000795	Abnormality of the urethra	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010936	HP:0000795	Abnormality of the urethra	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010936	HP:0000795	Abnormality of the urethra	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010936	HP:0000014	Abnormality of the bladder	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0010936	HP:0000014	Abnormality of the bladder	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0010936	HP:0000795	Abnormality of the urethra	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0010936	HP:0000795	Abnormality of the urethra	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0010936	HP:0000795	Abnormality of the urethra	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0010936	HP:0000795	Abnormality of the urethra	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010936	HP:0000795	Abnormality of the urethra	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0010936	HP:0000795	Abnormality of the urethra	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0010936	HP:0000014	Abnormality of the bladder	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0010936	HP:0000014	Abnormality of the bladder	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0010936	HP:0000795	Abnormality of the urethra	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0010936	HP:0000014	Abnormality of the bladder	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0010936	HP:0000795	Abnormality of the urethra	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0010936	HP:0000795	Abnormality of the urethra	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0010936	HP:0000014	Abnormality of the bladder	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0010936	HP:0000014	Abnormality of the bladder	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0010936	HP:0000014	Abnormality of the bladder	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0000795	Abnormality of the urethra	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0000795	Abnormality of the urethra	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0000014	Abnormality of the bladder	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0000795	Abnormality of the urethra	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010936	HP:0000795	Abnormality of the urethra	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010936	HP:0000014	Abnormality of the bladder	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0010936	HP:0000795	Abnormality of the urethra	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010936	HP:0000014	Abnormality of the bladder	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0010936	HP:0000014	Abnormality of the bladder	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0010936	HP:0000014	Abnormality of the bladder	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0010936	HP:0000795	Abnormality of the urethra	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010936	HP:0000014	Abnormality of the bladder	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0010936	HP:0000014	Abnormality of the bladder	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0010936	HP:0000014	Abnormality of the bladder	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0010936	HP:0000014	Abnormality of the bladder	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0010936	HP:0000014	Abnormality of the bladder	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0010936	HP:0000795	Abnormality of the urethra	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010936	HP:0000795	Abnormality of the urethra	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0010936	HP:0000795	Abnormality of the urethra	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010936	HP:0000014	Abnormality of the bladder	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010936	HP:0000795	Abnormality of the urethra	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010936	HP:0000014	Abnormality of the bladder	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010936	HP:0000795	Abnormality of the urethra	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010936	HP:0000014	Abnormality of the bladder	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0010936	HP:0000014	Abnormality of the bladder	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0010936	HP:0000795	Abnormality of the urethra	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0010936	HP:0000014	Abnormality of the bladder	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010936	HP:0000014	Abnormality of the bladder	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0010936	HP:0000014	Abnormality of the bladder	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0010936	HP:0000014	Abnormality of the bladder	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0000795	Abnormality of the urethra	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0010936	HP:0000795	Abnormality of the urethra	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0010936	HP:0000014	Abnormality of the bladder	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010936	HP:0000795	Abnormality of the urethra	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010936	HP:0000795	Abnormality of the urethra	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0000014	Abnormality of the bladder	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0000014	Abnormality of the bladder	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0010936	HP:0000795	Abnormality of the urethra	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0010936	HP:0000014	Abnormality of the bladder	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0010936	HP:0000014	Abnormality of the bladder	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0010936	HP:0000014	Abnormality of the bladder	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0010936	HP:0000014	Abnormality of the bladder	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0010936	HP:0000014	Abnormality of the bladder	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0010936	HP:0000014	Abnormality of the bladder	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0000795	Abnormality of the urethra	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0000014	Abnormality of the bladder	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0000795	Abnormality of the urethra	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0000014	Abnormality of the bladder	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0010936	HP:0000014	Abnormality of the bladder	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010936	HP:0000795	Abnormality of the urethra	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0010936	HP:0000795	Abnormality of the urethra	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0010936	HP:0000014	Abnormality of the bladder	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0010936	HP:0000014	Abnormality of the bladder	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0010936	HP:0000014	Abnormality of the bladder	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010936	HP:0000795	Abnormality of the urethra	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010936	HP:0000795	Abnormality of the urethra	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010936	HP:0000014	Abnormality of the bladder	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0000795	Abnormality of the urethra	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0000795	Abnormality of the urethra	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010936	HP:0000014	Abnormality of the bladder	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0010936	HP:0000014	Abnormality of the bladder	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010936	HP:0000014	Abnormality of the bladder	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010936	HP:0000795	Abnormality of the urethra	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0010936	HP:0000014	Abnormality of the bladder	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0010936	HP:0000795	Abnormality of the urethra	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010936	HP:0000014	Abnormality of the bladder	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0010936	HP:0000014	Abnormality of the bladder	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0010936	HP:0000014	Abnormality of the bladder	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0010936	HP:0000014	Abnormality of the bladder	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0010936	HP:0000795	Abnormality of the urethra	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0010936	HP:0000795	Abnormality of the urethra	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0010936	HP:0000795	Abnormality of the urethra	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0010936	HP:0000795	Abnormality of the urethra	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0010936	HP:0000014	Abnormality of the bladder	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0010936	HP:0000795	Abnormality of the urethra	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0010936	HP:0000014	Abnormality of the bladder	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0010936	HP:0000014	Abnormality of the bladder	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0010936	HP:0000014	Abnormality of the bladder	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0010936	HP:0000014	Abnormality of the bladder	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0010936	HP:0000014	Abnormality of the bladder	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010936	HP:0000795	Abnormality of the urethra	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010936	HP:0000014	Abnormality of the bladder	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0010936	HP:0000795	Abnormality of the urethra	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010936	HP:0000795	Abnormality of the urethra	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010936	HP:0000014	Abnormality of the bladder	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0010936	HP:0000014	Abnormality of the bladder	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0010936	HP:0000795	Abnormality of the urethra	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0010936	HP:0000014	Abnormality of the bladder	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0010936	HP:0000795	Abnormality of the urethra	1	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0010936	HP:0000014	Abnormality of the bladder	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0010936	HP:0000014	Abnormality of the bladder	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0010936	HP:0000014	Abnormality of the bladder	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0010936	HP:0000014	Abnormality of the bladder	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0010936	HP:0000014	Abnormality of the bladder	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0010936	HP:0000014	Abnormality of the bladder	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010936	HP:0000014	Abnormality of the bladder	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0010936	HP:0000795	Abnormality of the urethra	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0010936	HP:0000014	Abnormality of the bladder	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010936	HP:0000795	Abnormality of the urethra	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010936	HP:0000795	Abnormality of the urethra	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0010936	HP:0000795	Abnormality of the urethra	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0010936	HP:0000014	Abnormality of the bladder	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010936	HP:0000795	Abnormality of the urethra	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0010936	HP:0000795	Abnormality of the urethra	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0010936	HP:0000795	Abnormality of the urethra	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0010936	HP:0000795	Abnormality of the urethra	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0010936	HP:0000795	Abnormality of the urethra	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0010936	HP:0000795	Abnormality of the urethra	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0010936	HP:0000795	Abnormality of the urethra	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0010936	HP:0000014	Abnormality of the bladder	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010936	HP:0000795	Abnormality of the urethra	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010936	HP:0000014	Abnormality of the bladder	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0010936	HP:0000795	Abnormality of the urethra	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0010936	HP:0000795	Abnormality of the urethra	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0010936	HP:0000014	Abnormality of the bladder	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0010936	HP:0000795	Abnormality of the urethra	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0010936	HP:0000014	Abnormality of the bladder	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010936	HP:0000795	Abnormality of the urethra	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0010936	HP:0000014	Abnormality of the bladder	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0000795	Abnormality of the urethra	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0000014	Abnormality of the bladder	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0000795	Abnormality of the urethra	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0000014	Abnormality of the bladder	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010936	HP:0000795	Abnormality of the urethra	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010936	HP:0000795	Abnormality of the urethra	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000795	Abnormality of the urethra	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0010936	HP:0000014	Abnormality of the bladder	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0000795	Abnormality of the urethra	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0010936	HP:0000014	Abnormality of the bladder	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0010936	HP:0000795	Abnormality of the urethra	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010936	HP:0000014	Abnormality of the bladder	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0010936	HP:0000795	Abnormality of the urethra	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0010936	HP:0000014	Abnormality of the bladder	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010936	HP:0000014	Abnormality of the bladder	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0010936	HP:0000014	Abnormality of the bladder	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010936	HP:0000795	Abnormality of the urethra	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0010936	HP:0000014	Abnormality of the bladder	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000014	Abnormality of the bladder	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0000014	Abnormality of the bladder	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0010936	HP:0000795	Abnormality of the urethra	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0010936	HP:0000795	Abnormality of the urethra	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0010936	HP:0000795	Abnormality of the urethra	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010936	HP:0000795	Abnormality of the urethra	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0010936	HP:0000014	Abnormality of the bladder	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010936	HP:0000014	Abnormality of the bladder	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0010936	HP:0000014	Abnormality of the bladder	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010936	HP:0000014	Abnormality of the bladder	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0010936	HP:0000014	Abnormality of the bladder	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0010936	HP:0000014	Abnormality of the bladder	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy		1
HP:0010936	HP:0000014	Abnormality of the bladder	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0010936	HP:0000014	Abnormality of the bladder	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000795	Abnormality of the urethra	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010936	HP:0000795	Abnormality of the urethra	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010936	HP:0000014	Abnormality of the bladder	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010936	HP:0000795	Abnormality of the urethra	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010936	HP:0000014	Abnormality of the bladder	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0010936	HP:0000795	Abnormality of the urethra	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010936	HP:0000795	Abnormality of the urethra	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0010936	HP:0000014	Abnormality of the bladder	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0010936	HP:0000014	Abnormality of the bladder	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0010936	HP:0000014	Abnormality of the bladder	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0010936	HP:0000795	Abnormality of the urethra	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0010936	HP:0000014	Abnormality of the bladder	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0000014	Abnormality of the bladder	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0000795	Abnormality of the urethra	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010936	HP:0000795	Abnormality of the urethra	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0010936	HP:0000795	Abnormality of the urethra	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0010936	HP:0000795	Abnormality of the urethra	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010936	HP:0000795	Abnormality of the urethra	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0010936	HP:0000795	Abnormality of the urethra	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010936	HP:0000795	Abnormality of the urethra	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010936	HP:0000014	Abnormality of the bladder	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency		149
HP:0010936	HP:0000795	Abnormality of the urethra	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0010936	HP:0000014	Abnormality of the bladder	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000795	Abnormality of the urethra	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010936	HP:0025417	Patulous urethra	2	CL E G H
HP:0010936	HP:0030723	Congenital megalourethra	2	CL E G H
HP:0010936	HP:0100821	Urethrocele	2	CL E G H
HP:0010936	HP:0500006	Urethritis	2	CL E G H
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1		260
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	75
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040281 - Very frequent	125
HP:0010936	HP:0008722	Urethral diverticulum	2	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	125
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	67
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0010936	HP:0000068	Urethral atresia	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0010936	HP:0000068	Urethral atresia	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000796	Urethral obstruction	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0000796	Urethral obstruction	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional	4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0010936	HP:0000068	Urethral atresia	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0000796	Urethral obstruction	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0010936	HP:0000068	Urethral atresia	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0000796	Urethral obstruction	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010936	HP:0000796	Urethral obstruction	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040283 - Occasional	7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0000796	Urethral obstruction	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0000796	Urethral obstruction	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010936	HP:0000068	Urethral atresia	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000796	Urethral obstruction	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0000796	Urethral obstruction	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency		80
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010936	HP:0000796	Urethral obstruction	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0010936	HP:0000796	Urethral obstruction	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010936	HP:0010480	Urethral fistula	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010936	HP:0010480	Urethral fistula	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0010480	Urethral fistula	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0008722	Urethral diverticulum	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010936	HP:0000796	Urethral obstruction	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000796	Urethral obstruction	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0010936	HP:0000068	Urethral atresia	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0008722	Urethral diverticulum	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010936	HP:0000796	Urethral obstruction	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010936	HP:0100517	Neoplasm of the urethra	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010936	HP:0000796	Urethral obstruction	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040283 - Occasional	493
HP:0010936	HP:0000796	Urethral obstruction	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010936	HP:0000796	Urethral obstruction	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010936	HP:0000068	Urethral atresia	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0010936	HP:0000068	Urethral atresia	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease		86
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0010936	HP:0008706	Distal urethral duplication	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0010936	HP:0000068	Urethral atresia	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0010936	HP:0000796	Urethral obstruction	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3		83
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010936	HP:0000796	Urethral obstruction	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010936	HP:0000796	Urethral obstruction	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0010936	HP:0010480	Urethral fistula	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0010936	HP:0000796	Urethral obstruction	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0010936	HP:0000796	Urethral obstruction	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010936	HP:0000796	Urethral obstruction	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0010936	HP:0000796	Urethral obstruction	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0010936	HP:0000796	Urethral obstruction	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0000796	Urethral obstruction	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0000796	Urethral obstruction	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0000796	Urethral obstruction	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010936	HP:0000796	Urethral obstruction	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0008722	Urethral diverticulum	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040281 - Very frequent	5
HP:0010936	HP:0008722	Urethral diverticulum	2	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0010936	HP:0000796	Urethral obstruction	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0000796	Urethral obstruction	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0010480	Urethral fistula	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0010936	HP:0000796	Urethral obstruction	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010936	HP:0000068	Urethral atresia	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0000796	Urethral obstruction	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0000796	Urethral obstruction	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010936	HP:0000796	Urethral obstruction	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010936	HP:0000796	Urethral obstruction	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0000796	Urethral obstruction	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0010936	HP:0000796	Urethral obstruction	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0000796	Urethral obstruction	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0010936	HP:0000796	Urethral obstruction	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	194
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	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:0010936	HP:0000009	Functional abnormality of the bladder	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0010936	HP:0000796	Urethral obstruction	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0010936	HP:0008722	Urethral diverticulum	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0010936	HP:0000796	Urethral obstruction	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010936	HP:0000796	Urethral obstruction	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0010936	HP:0000796	Urethral obstruction	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0010936	HP:0000796	Urethral obstruction	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0010936	HP:0000068	Urethral atresia	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0010936	HP:0000068	Urethral atresia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0010936	HP:0000796	Urethral obstruction	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0000796	Urethral obstruction	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0000796	Urethral obstruction	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0000796	Urethral obstruction	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0010936	HP:0000796	Urethral obstruction	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0000796	Urethral obstruction	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent	89
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010936	HP:0000796	Urethral obstruction	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0010936	HP:0000068	Urethral atresia	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010936	HP:0000068	Urethral atresia	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0010936	HP:0000068	Urethral atresia	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0010936	HP:0000796	Urethral obstruction	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0010936	HP:0000796	Urethral obstruction	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0010936	HP:0000796	Urethral obstruction	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0010936	HP:0000796	Urethral obstruction	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0010936	HP:0000796	Urethral obstruction	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010936	HP:0000068	Urethral atresia	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000068	Urethral atresia	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010936	HP:0000068	Urethral atresia	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0010936	HP:0000068	Urethral atresia	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0010936	HP:0000068	Urethral atresia	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0000796	Urethral obstruction	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010936	HP:0000068	Urethral atresia	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0010936	HP:0000068	Urethral atresia	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000796	Urethral obstruction	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0010936	HP:0010480	Urethral fistula	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0010936	HP:0000796	Urethral obstruction	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy		1
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010936	HP:0000796	Urethral obstruction	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0010936	HP:0010480	Urethral fistula	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0010936	HP:0000068	Urethral atresia	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0025487	Abnormality of bladder morphology	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0010936	HP:0000796	Urethral obstruction	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	177
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency		149
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010936	HP:0100779	Urogenital sinus anomaly	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0010936	HP:0000068	Urethral atresia	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0010936	HP:0000009	Functional abnormality of the bladder	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000796	Urethral obstruction	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0100627	Displacement of the urethral meatus	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010936	HP:0000052	Urethral atresia, male	3	CL E G H
HP:0010936	HP:0000067	Urethral atresia, female	3	CL E G H
HP:0010936	HP:0008648	Anteriorly displaced urethral meatus	3	CL E G H
HP:0010936	HP:0010474	Bladder stones	3	CL E G H
HP:0010936	HP:0025489	Bladder duplication	3	CL E G H
HP:0010936	HP:0032020	Eosinophilic bladder infiltration	3	CL E G H
HP:0010936	HP:0041047	Bladder outlet obstruction	3	CL E G H
HP:0010936	HP:0000020	Urinary incontinence	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0010936	HP:0000012	Urinary urgency	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0010936	HP:0000016	Urinary retention	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0010936	HP:0000020	Urinary incontinence	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0010936	HP:0000047	Hypospadias	3	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0010936	HP:0000011	Neurogenic bladder	3	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0010936	HP:0000047	Hypospadias	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040281 - Very frequent	23
HP:0010936	HP:0010955	Dilatation of the bladder	3	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010936	HP:0010955	Dilatation of the bladder	3	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0010936	HP:0010955	Dilatation of the bladder	3	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010936	HP:0000016	Urinary retention	3	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0010936	HP:0010955	Dilatation of the bladder	3	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010936	HP:0000047	Hypospadias	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0010936	HP:0000047	Hypospadias	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0010936	HP:0000012	Urinary urgency	3	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0010936	HP:0000020	Urinary incontinence	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent	47
HP:0010936	HP:0000076	Vesicoureteral reflux	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0010936	HP:0000047	Hypospadias	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000076	Vesicoureteral reflux	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000805	Enuresis	3	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040283 - Occasional	260
HP:0010936	HP:0100518	Dysuria	3	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040282 - Frequent	260
HP:0010936	HP:0100518	Dysuria	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0010936	HP:0000020	Urinary incontinence	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0010936	HP:0000015	Bladder diverticulum	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010936	HP:0000012	Urinary urgency	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0010936	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0010936	HP:0100515	Pollakisuria	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0010936	HP:0000016	Urinary retention	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0010936	HP:0100515	Pollakisuria	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0010936	HP:0000012	Urinary urgency	3	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional	89
HP:0010936	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional	89
HP:0010936	HP:0000016	Urinary retention	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0010936	HP:0000020	Urinary incontinence	3	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010936	HP:0000047	Hypospadias	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0010936	HP:0000047	Hypospadias	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010936	HP:0000012	Urinary urgency	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010936	HP:0000016	Urinary retention	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010936	HP:0000020	Urinary incontinence	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010936	HP:0100518	Dysuria	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010936	HP:0025488	Detrusor sphincter dyssynergia	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0010936	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0010936	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0010936	HP:0000020	Urinary incontinence	3	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0010936	HP:0000039	Epispadias	3	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0010936	HP:0000020	Urinary incontinence	3	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0010936	HP:0000020	Urinary incontinence	3	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0010936	HP:0000047	Hypospadias	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0034378	Urethrovesical occlusion	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0010481	Urethral valve	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010936	HP:0000016	Urinary retention	3	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0010936	HP:0000019	Urinary hesitancy	3	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0010936	HP:0100518	Dysuria	3	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent	19
HP:0010936	HP:0010955	Dilatation of the bladder	3	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010936	HP:0000805	Enuresis	3	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0010936	HP:0000047	Hypospadias	3	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0010936	HP:0000047	Hypospadias	3	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0010936	HP:0000047	Hypospadias	3	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0010936	HP:0000047	Hypospadias	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0010936	HP:0000047	Hypospadias	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0010936	HP:0000047	Hypospadias	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0010936	HP:0000047	Hypospadias	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010936	HP:0000047	Hypospadias	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0010936	HP:0000011	Neurogenic bladder	3	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0010936	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0010936	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0010936	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0010936	HP:0000020	Urinary incontinence	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0010936	HP:0000047	Hypospadias	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0010936	HP:0000047	Hypospadias	3	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0010936	HP:0000020	Urinary incontinence	3	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0010936	HP:0000016	Urinary retention	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0010936	HP:0000012	Urinary urgency	3	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040283 - Occasional	71
HP:0010936	HP:0000012	Urinary urgency	3	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0010936	HP:0000020	Urinary incontinence	3	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0010936	HP:0000011	Neurogenic bladder	3	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0010936	HP:0000020	Urinary incontinence	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0010936	HP:0000012	Urinary urgency	3	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010936	HP:0000012	Urinary urgency	3	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0010936	HP:0000047	Hypospadias	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010936	HP:0000015	Bladder diverticulum	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0010936	HP:0000015	Bladder diverticulum	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0010936	HP:0000015	Bladder diverticulum	3	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0010936	HP:0000047	Hypospadias	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0010936	HP:0000047	Hypospadias	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0010936	HP:0000047	Hypospadias	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0010936	HP:0000012	Urinary urgency	3	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0010936	HP:0000020	Urinary incontinence	3	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0010936	HP:0000012	Urinary urgency	3	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0010936	HP:0000012	Urinary urgency	3	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0010936	HP:0000020	Urinary incontinence	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0010936	HP:0000011	Neurogenic bladder	3	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0010936	HP:0000011	Neurogenic bladder	3	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0010936	HP:0000011	Neurogenic bladder	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0010936	HP:0000020	Urinary incontinence	3	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0010936	HP:0000012	Urinary urgency	3	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0010936	HP:0000020	Urinary incontinence	3	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0010936	HP:0000020	Urinary incontinence	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0010936	HP:0010955	Dilatation of the bladder	3	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0010936	HP:0000805	Enuresis	3	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0010936	HP:0000047	Hypospadias	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0010936	HP:0000047	Hypospadias	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010936	HP:0000012	Urinary urgency	3	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional	25
HP:0010936	HP:0000047	Hypospadias	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0010936	HP:0000020	Urinary incontinence	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0010936	HP:0000015	Bladder diverticulum	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000015	Bladder diverticulum	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0010936	HP:0000047	Hypospadias	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0010936	HP:0000047	Hypospadias	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	HP:0040283 - Occasional	5
HP:0010936	HP:0000047	Hypospadias	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0010936	HP:0000020	Urinary incontinence	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0010936	HP:0000020	Urinary incontinence	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0034378	Urethrovesical occlusion	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0100515	Pollakisuria	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0008661	Urethral stenosis	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0010481	Urethral valve	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0000016	Urinary retention	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0010936	HP:0000020	Urinary incontinence	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040282 - Frequent	22
HP:0010936	HP:0000805	Enuresis	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0034378	Urethrovesical occlusion	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0100518	Dysuria	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0010936	HP:0008661	Urethral stenosis	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0010936	HP:0010481	Urethral valve	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0010936	HP:0000047	Hypospadias	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0010936	HP:0000047	Hypospadias	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0010936	HP:0000047	Hypospadias	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0010936	HP:0000047	Hypospadias	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0010936	HP:0000047	Hypospadias	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000047	Hypospadias	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0010936	HP:0000047	Hypospadias	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0010936	HP:0000015	Bladder diverticulum	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000020	Urinary incontinence	3	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0010936	HP:0000039	Epispadias	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0010936	HP:0000039	Epispadias	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0010936	HP:0000020	Urinary incontinence	3	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0010936	HP:0000012	Urinary urgency	3	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0010936	HP:0000020	Urinary incontinence	3	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0010936	HP:0000012	Urinary urgency	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0010936	HP:0000020	Urinary incontinence	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0010936	HP:0000020	Urinary incontinence	3	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	75
HP:0010936	HP:0000016	Urinary retention	3	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0010936	HP:0000016	Urinary retention	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0010936	HP:0000020	Urinary incontinence	3	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010936	HP:0100518	Dysuria	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0010936	HP:0000047	Hypospadias	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0010936	HP:0000047	Hypospadias	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010936	HP:0000047	Hypospadias	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0010936	HP:0000047	Hypospadias	3	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	5
HP:0010936	HP:0000020	Urinary incontinence	3	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0010936	HP:0000047	Hypospadias	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000047	Hypospadias	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0010936	HP:0000047	Hypospadias	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010936	HP:0000039	Epispadias	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0010936	HP:0008661	Urethral stenosis	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0010936	HP:0000039	Epispadias	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0010936	HP:0000047	Hypospadias	3	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0010936	HP:0000047	Hypospadias	3	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0010936	HP:0000047	Hypospadias	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0010936	HP:0002836	Bladder exstrophy	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0010936	HP:0000047	Hypospadias	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0010936	HP:0000047	Hypospadias	3	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0010936	HP:0000047	Hypospadias	3	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0010936	HP:0000047	Hypospadias	3	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0010936	HP:0000047	Hypospadias	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0010936	HP:0000039	Epispadias	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0010936	HP:0000047	Hypospadias	3	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0010936	HP:0000011	Neurogenic bladder	3	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0010936	HP:0000020	Urinary incontinence	3	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.	6
HP:0010936	HP:0000011	Neurogenic bladder	3	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010936	HP:0000020	Urinary incontinence	3	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010936	HP:0034378	Urethrovesical occlusion	3	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010936	HP:0034378	Urethrovesical occlusion	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0010481	Urethral valve	3	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010936	HP:0010481	Urethral valve	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010936	HP:0000020	Urinary incontinence	3	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0010936	HP:0000011	Neurogenic bladder	3	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000047	Hypospadias	3	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010936	HP:0000020	Urinary incontinence	3	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0010936	HP:0000020	Urinary incontinence	3	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0010936	HP:0000047	Hypospadias	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0010936	HP:0000047	Hypospadias	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0010936	HP:0100518	Dysuria	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0010936	HP:0000011	Neurogenic bladder	3	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0010936	HP:0000011	Neurogenic bladder	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0010936	HP:0000017	Nocturia	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0010936	HP:0000020	Urinary incontinence	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0010936	HP:0000805	Enuresis	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0010936	HP:0000015	Bladder diverticulum	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0010936	HP:0000047	Hypospadias	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0010936	HP:0000011	Neurogenic bladder	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0010936	HP:0000020	Urinary incontinence	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0010936	HP:0000011	Neurogenic bladder	3	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0010936	HP:0000011	Neurogenic bladder	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0010936	HP:0000076	Vesicoureteral reflux	3	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0010936	HP:0000015	Bladder diverticulum	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010936	HP:0000015	Bladder diverticulum	3	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	HP:0040284 - Very rare	243
HP:0010936	HP:0100645	Cystocele	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0010936	HP:0000015	Bladder diverticulum	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0010936	HP:0000047	Hypospadias	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010936	HP:0100645	Cystocele	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010936	HP:0000015	Bladder diverticulum	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010936	HP:0000015	Bladder diverticulum	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0010936	HP:0008661	Urethral stenosis	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010936	HP:0008661	Urethral stenosis	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0010936	HP:0000047	Hypospadias	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010936	HP:0000047	Hypospadias	3	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000076	Vesicoureteral reflux	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000020	Urinary incontinence	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010936	HP:0000076	Vesicoureteral reflux	3	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0010936	HP:0000012	Urinary urgency	3	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0010936	HP:0000020	Urinary incontinence	3	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0010936	HP:0000039	Epispadias	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000047	Hypospadias	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000047	Hypospadias	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0010936	HP:0000047	Hypospadias	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0010936	HP:0000047	Hypospadias	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010936	HP:0000012	Urinary urgency	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0010936	HP:0000020	Urinary incontinence	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0010936	HP:0000047	Hypospadias	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010936	HP:0000047	Hypospadias	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010936	HP:0000047	Hypospadias	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0010936	HP:0000076	Vesicoureteral reflux	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0010936	HP:0000020	Urinary incontinence	3	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0010936	HP:0000047	Hypospadias	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000047	Hypospadias	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0010936	HP:0008661	Urethral stenosis	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0010936	HP:0000047	Hypospadias	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0010936	HP:0000047	Hypospadias	3	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0010936	HP:0000047	Hypospadias	3	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	127
HP:0010936	HP:0000047	Hypospadias	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0010936	HP:0000047	Hypospadias	3	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0010936	HP:0000047	Hypospadias	3	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0010936	HP:0000047	Hypospadias	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010936	HP:0000047	Hypospadias	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0010936	HP:0000047	Hypospadias	3	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0010936	HP:0000047	Hypospadias	3	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0010936	HP:0000020	Urinary incontinence	3	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0010936	HP:0000047	Hypospadias	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0010481	Urethral valve	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000047	Hypospadias	3	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0010936	HP:0000017	Nocturia	3	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0010936	HP:0000017	Nocturia	3	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0010936	HP:0000047	Hypospadias	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0010936	HP:0000047	Hypospadias	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010936	HP:0000020	Urinary incontinence	3	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010936	HP:0000020	Urinary incontinence	3	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0010936	HP:0000047	Hypospadias	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0010936	HP:0000047	Hypospadias	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0000047	Hypospadias	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010936	HP:0008661	Urethral stenosis	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0010936	HP:0000047	Hypospadias	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0010936	HP:0008661	Urethral stenosis	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0010936	HP:0000020	Urinary incontinence	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0010936	HP:0000805	Enuresis	3	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010936	HP:0000047	Hypospadias	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010936	HP:0000805	Enuresis	3	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0010936	HP:0000047	Hypospadias	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0010936	HP:0000047	Hypospadias	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0010936	HP:0000015	Bladder diverticulum	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000020	Urinary incontinence	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0010936	HP:0000020	Urinary incontinence	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010936	HP:0000047	Hypospadias	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000805	Enuresis	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000020	Urinary incontinence	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0010936	HP:0000039	Epispadias	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010936	HP:0000047	Hypospadias	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010936	HP:0000039	Epispadias	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010936	HP:0000047	Hypospadias	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010936	HP:0000076	Vesicoureteral reflux	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010936	HP:0008716	Urethrovaginal fistula	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0010936	HP:0008716	Urethrovaginal fistula	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010936	HP:0008716	Urethrovaginal fistula	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010936	HP:0000039	Epispadias	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0010936	HP:0000047	Hypospadias	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0010936	HP:0000047	Hypospadias	3	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:0010936	HP:0000047	Hypospadias	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0010936	HP:0100515	Pollakisuria	3	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare	600
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0010936	HP:0000015	Bladder diverticulum	3	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0010936	HP:0000047	Hypospadias	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional	27
HP:0010936	HP:0000047	Hypospadias	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0010936	HP:0000047	Hypospadias	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0010936	HP:0000012	Urinary urgency	3	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0010936	HP:0000020	Urinary incontinence	3	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0010936	HP:0000015	Bladder diverticulum	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000015	Bladder diverticulum	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010936	HP:0000015	Bladder diverticulum	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0010936	HP:0008661	Urethral stenosis	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0010936	HP:0000015	Bladder diverticulum	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0010936	HP:0000805	Enuresis	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0010936	HP:0008661	Urethral stenosis	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010936	HP:0000011	Neurogenic bladder	3	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0010936	HP:0000011	Neurogenic bladder	3	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010936	HP:0000047	Hypospadias	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010936	HP:0000047	Hypospadias	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0010936	HP:0000047	Hypospadias	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0010936	HP:0000011	Neurogenic bladder	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0010936	HP:0000047	Hypospadias	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0010936	HP:0000011	Neurogenic bladder	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0010936	HP:0000016	Urinary retention	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0010936	HP:0000011	Neurogenic bladder	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0010936	HP:0000016	Urinary retention	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0010936	HP:0000047	Hypospadias	3	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0010936	HP:0000047	Hypospadias	3	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0010936	HP:0000047	Hypospadias	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0010936	HP:0000039	Epispadias	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0010936	HP:0000047	Hypospadias	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0010936	HP:0000039	Epispadias	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0010936	HP:0000047	Hypospadias	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0010936	HP:0000039	Epispadias	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0010936	HP:0000047	Hypospadias	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0010936	HP:0000039	Epispadias	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0010936	HP:0000047	Hypospadias	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0010936	HP:0000016	Urinary retention	3	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0010936	HP:0000016	Urinary retention	3	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0010936	HP:0000076	Vesicoureteral reflux	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0010936	HP:0000020	Urinary incontinence	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0010936	HP:0000805	Enuresis	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010936	HP:0100515	Pollakisuria	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0010936	HP:0000012	Urinary urgency	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0010936	HP:0000020	Urinary incontinence	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional	76
HP:0010936	HP:0000805	Enuresis	3	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0010936	HP:0000805	Enuresis	3	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent	16
HP:0010936	HP:0000047	Hypospadias	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0010936	HP:0000047	Hypospadias	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0010936	HP:0000047	Hypospadias	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0010936	HP:0000047	Hypospadias	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0010936	HP:0000047	Hypospadias	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010936	HP:0000047	Hypospadias	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010936	HP:0000047	Hypospadias	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010936	HP:0000047	Hypospadias	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0010936	HP:0000047	Hypospadias	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0010936	HP:0000047	Hypospadias	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0010936	HP:0000012	Urinary urgency	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0010936	HP:0000020	Urinary incontinence	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0010936	HP:0100515	Pollakisuria	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0010936	HP:0000011	Neurogenic bladder	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0010936	HP:0000020	Urinary incontinence	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0010936	HP:0025488	Detrusor sphincter dyssynergia	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0010936	HP:0000047	Hypospadias	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0010936	HP:0000047	Hypospadias	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010936	HP:0000015	Bladder diverticulum	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010936	HP:0000015	Bladder diverticulum	3	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0010936	HP:0000015	Bladder diverticulum	3	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0010936	HP:0000047	Hypospadias	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0010936	HP:0000011	Neurogenic bladder	3	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0010936	HP:0000047	Hypospadias	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010936	HP:0008661	Urethral stenosis	3	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0010936	HP:0008661	Urethral stenosis	3	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0010936	HP:0000047	Hypospadias	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0010936	HP:0000047	Hypospadias	3	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0010936	HP:0000047	Hypospadias	3	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0010936	HP:0000047	Hypospadias	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0010936	HP:0000047	Hypospadias	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0010936	HP:0000047	Hypospadias	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010936	HP:0000047	Hypospadias	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0010936	HP:0000047	Hypospadias	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0010936	HP:0000020	Urinary incontinence	3	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0010936	HP:0000015	Bladder diverticulum	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0010936	HP:0000015	Bladder diverticulum	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0010936	HP:0000047	Hypospadias	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0010936	HP:0000047	Hypospadias	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010936	HP:0008661	Urethral stenosis	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0010936	HP:0000020	Urinary incontinence	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0010936	HP:0000020	Urinary incontinence	3	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0010936	HP:0100515	Pollakisuria	3	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0010936	HP:0000047	Hypospadias	3	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010936	HP:0000047	Hypospadias	3	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0010936	HP:0000047	Hypospadias	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0010955	Dilatation of the bladder	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010936	HP:0000805	Enuresis	3	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010936	HP:0000047	Hypospadias	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0010936	HP:0000047	Hypospadias	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0010936	HP:0000047	Hypospadias	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0010936	HP:0000020	Urinary incontinence	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0010936	HP:0000020	Urinary incontinence	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0010936	HP:0000011	Neurogenic bladder	3	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0010936	HP:0000076	Vesicoureteral reflux	3	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0010936	HP:0000020	Urinary incontinence	3	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0010936	HP:0000039	Epispadias	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0010936	HP:0010478	Abnormality of the urachus	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010936	HP:0000020	Urinary incontinence	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0010936	HP:0000020	Urinary incontinence	3	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	134
HP:0010936	HP:0000016	Urinary retention	3	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0010936	HP:0000020	Urinary incontinence	3	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	57
HP:0010936	HP:0000047	Hypospadias	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0010936	HP:0000020	Urinary incontinence	3	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	139
HP:0010936	HP:0000020	Urinary incontinence	3	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0010936	HP:0000020	Urinary incontinence	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010936	HP:0000047	Hypospadias	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0010936	HP:0000047	Hypospadias	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010936	HP:0000047	Hypospadias	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0010936	HP:0000047	Hypospadias	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0010936	HP:0000047	Hypospadias	3	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0010936	HP:0000012	Urinary urgency	3	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0010936	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0010936	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0010936	HP:0000020	Urinary incontinence	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0010936	HP:0000011	Neurogenic bladder	3	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0010936	HP:0000020	Urinary incontinence	3	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0010936	HP:0000011	Neurogenic bladder	3	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010936	HP:0000020	Urinary incontinence	3	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0010936	HP:0000011	Neurogenic bladder	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0010936	HP:0000011	Neurogenic bladder	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040282 - Frequent	37
HP:0010936	HP:0000020	Urinary incontinence	3	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent	37
HP:0010936	HP:0000039	Epispadias	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000047	Hypospadias	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0010936	HP:0000047	Hypospadias	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0010936	HP:0000047	Hypospadias	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0010936	HP:0000047	Hypospadias	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0010936	HP:0000047	Hypospadias	3	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0010936	HP:0000012	Urinary urgency	3	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0010936	HP:0000039	Epispadias	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000011	Neurogenic bladder	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010936	HP:0000012	Urinary urgency	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010936	HP:0000047	Hypospadias	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0010936	HP:0000047	Hypospadias	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0010936	HP:0000047	Hypospadias	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010936	HP:0000047	Hypospadias	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010936	HP:0100518	Dysuria	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0010936	HP:0000047	Hypospadias	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	HP:0040284 - Very rare
HP:0010936	HP:0000047	Hypospadias	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0010936	HP:0000015	Bladder diverticulum	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0008661	Urethral stenosis	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000015	Bladder diverticulum	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0008661	Urethral stenosis	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000015	Bladder diverticulum	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0008661	Urethral stenosis	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0010936	HP:0000047	Hypospadias	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0010936	HP:0034378	Urethrovesical occlusion	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0010936	HP:0010481	Urethral valve	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0010936	HP:0000047	Hypospadias	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0010936	HP:0000020	Urinary incontinence	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0010936	HP:0000047	Hypospadias	3	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0010936	HP:0000047	Hypospadias	3	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0010936	HP:0000039	Epispadias	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0010936	HP:0000047	Hypospadias	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0010936	HP:0000047	Hypospadias	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0010936	HP:0000047	Hypospadias	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0010936	HP:0000047	Hypospadias	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0010936	HP:0000020	Urinary incontinence	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0010936	HP:0000020	Urinary incontinence	3	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0010936	HP:0000047	Hypospadias	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0100518	Dysuria	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000019	Urinary hesitancy	3	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0010936	HP:0000020	Urinary incontinence	3	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0010936	HP:0000019	Urinary hesitancy	3	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0010936	HP:0000020	Urinary incontinence	3	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0010936	HP:0000016	Urinary retention	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0010936	HP:0000020	Urinary incontinence	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0010936	HP:0100518	Dysuria	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0010936	HP:0000016	Urinary retention	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0010936	HP:0000020	Urinary incontinence	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0010936	HP:0100518	Dysuria	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0010936	HP:0000047	Hypospadias	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0010936	HP:0000047	Hypospadias	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0010936	HP:0000047	Hypospadias	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0034378	Urethrovesical occlusion	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0010481	Urethral valve	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0010936	HP:0100515	Pollakisuria	3	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0010936	HP:0100518	Dysuria	3	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0010936	HP:0000047	Hypospadias	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010936	HP:0000047	Hypospadias	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0010936	HP:0000047	Hypospadias	3	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0010936	HP:0000047	Hypospadias	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0010936	HP:0000012	Urinary urgency	3	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010936	HP:0100518	Dysuria	3	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0010936	HP:0000020	Urinary incontinence	3	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0010936	HP:0000805	Enuresis	3	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0010936	HP:0010481	Urethral valve	3	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0010936	HP:0000020	Urinary incontinence	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0010936	HP:0000047	Hypospadias	3	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0010936	HP:0000047	Hypospadias	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0010936	HP:0000076	Vesicoureteral reflux	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0010936	HP:0000012	Urinary urgency	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040283 - Occasional	46
HP:0010936	HP:0000020	Urinary incontinence	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040281 - Very frequent	46
HP:0010936	HP:0000012	Urinary urgency	3	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0010936	HP:0000020	Urinary incontinence	3	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0010936	HP:0000047	Hypospadias	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0010936	HP:0000020	Urinary incontinence	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0010936	HP:0000047	Hypospadias	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0010936	HP:0000047	Hypospadias	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0010936	HP:0000020	Urinary incontinence	3	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0010936	HP:0008716	Urethrovaginal fistula	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0010936	HP:0000076	Vesicoureteral reflux	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0010936	HP:0000047	Hypospadias	3	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0010936	HP:0034378	Urethrovesical occlusion	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0010936	HP:0010481	Urethral valve	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0010936	HP:0000047	Hypospadias	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0010936	HP:0000020	Urinary incontinence	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0010936	HP:0100518	Dysuria	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0010936	HP:0000039	Epispadias	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0010936	HP:0002836	Bladder exstrophy	3	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0010936	HP:0100577	Urinary bladder inflammation	3	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0010936	HP:0008661	Urethral stenosis	3	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010936	HP:0008661	Urethral stenosis	3	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0010936	HP:0034378	Urethrovesical occlusion	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0010936	HP:0100577	Urinary bladder inflammation	3	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0010936	HP:0008661	Urethral stenosis	3	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010936	HP:0000076	Vesicoureteral reflux	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0010936	HP:0000047	Hypospadias	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000020	Urinary incontinence	3	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare
HP:0010936	HP:0000047	Hypospadias	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010936	HP:0000047	Hypospadias	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010936	HP:0000047	Hypospadias	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010936	HP:0000047	Hypospadias	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0010936	HP:0000047	Hypospadias	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000012	Urinary urgency	3	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0010936	HP:0000020	Urinary incontinence	3	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0010936	HP:0000020	Urinary incontinence	3	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0010936	HP:0000805	Enuresis	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040282 - Frequent	121
HP:0010936	HP:0000805	Enuresis	3	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0010936	HP:0000016	Urinary retention	3	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0010936	HP:0000020	Urinary incontinence	3	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0010936	HP:0000047	Hypospadias	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0010936	HP:0000047	Hypospadias	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0010936	HP:0000047	Hypospadias	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0010936	HP:0000047	Hypospadias	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0010936	HP:0000047	Hypospadias	3	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0010936	HP:0000012	Urinary urgency	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0010936	HP:0000012	Urinary urgency	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0010936	HP:0000020	Urinary incontinence	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0010936	HP:0000047	Hypospadias	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0010936	HP:0000047	Hypospadias	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010936	HP:0000047	Hypospadias	3	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010936	HP:0000047	Hypospadias	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0010936	HP:0000047	Hypospadias	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0010936	HP:0000020	Urinary incontinence	3	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0010936	HP:0000047	Hypospadias	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0010936	HP:0000076	Vesicoureteral reflux	3	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0010936	HP:0000012	Urinary urgency	3	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0010936	HP:0002836	Bladder exstrophy	3	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0010936	HP:0000039	Epispadias	3	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0010936	HP:0000047	Hypospadias	3	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0010936	HP:0000020	Urinary incontinence	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0000805	Enuresis	3	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0000016	Urinary retention	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010936	HP:0100518	Dysuria	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010936	HP:0008661	Urethral stenosis	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010936	HP:0000016	Urinary retention	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010936	HP:0100518	Dysuria	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010936	HP:0008661	Urethral stenosis	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010936	HP:0000016	Urinary retention	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010936	HP:0100518	Dysuria	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010936	HP:0008661	Urethral stenosis	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010936	HP:0000047	Hypospadias	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010936	HP:0000047	Hypospadias	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0010936	HP:0000047	Hypospadias	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0010936	HP:0000011	Neurogenic bladder	3	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0010936	HP:0000047	Hypospadias	3	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0010936	HP:0000015	Bladder diverticulum	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0010936	HP:0000012	Urinary urgency	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0010936	HP:0000016	Urinary retention	3	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0010936	HP:0010955	Dilatation of the bladder	3	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0010936	HP:0010955	Dilatation of the bladder	3	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0000047	Hypospadias	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0010936	HP:0000020	Urinary incontinence	3	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0000076	Vesicoureteral reflux	3	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0000012	Urinary urgency	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0010936	HP:0000076	Vesicoureteral reflux	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0010936	HP:0000805	Enuresis	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0010955	Dilatation of the bladder	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0032465	Bladder trabeculation	3	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0010936	HP:0000047	Hypospadias	3	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0010936	HP:0000015	Bladder diverticulum	3	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0010936	HP:0000015	Bladder diverticulum	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0010936	HP:0000047	Hypospadias	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional	5
HP:0010936	HP:0000011	Neurogenic bladder	3	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0010936	HP:0000047	Hypospadias	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0010936	HP:0000047	Hypospadias	3	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0010936	HP:0000047	Hypospadias	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0010936	HP:0000047	Hypospadias	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010936	HP:0000047	Hypospadias	3	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0010936	HP:0008661	Urethral stenosis	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0010936	HP:0000011	Neurogenic bladder	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010936	HP:0000047	Hypospadias	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0010936	HP:0000047	Hypospadias	3	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0010936	HP:0000012	Urinary urgency	3	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0010936	HP:0000012	Urinary urgency	3	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0010936	HP:0000011	Neurogenic bladder	3	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0010936	HP:0000012	Urinary urgency	3	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0010936	HP:0000047	Hypospadias	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0010936	HP:0000047	Hypospadias	3	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010936	HP:0000047	Hypospadias	3	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0010936	HP:0000047	Hypospadias	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0002836	Bladder exstrophy	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0000047	Hypospadias	3	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0010936	HP:0000047	Hypospadias	3	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0010936	HP:0000047	Hypospadias	3	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0010936	HP:0000047	Hypospadias	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0010936	HP:0000012	Urinary urgency	3	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010936	HP:0000047	Hypospadias	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0010936	HP:0000015	Bladder diverticulum	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0008661	Urethral stenosis	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0010936	HP:0000047	Hypospadias	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010936	HP:0000047	Hypospadias	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0034378	Urethrovesical occlusion	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0025407	Rectourethral fistula	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0010481	Urethral valve	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0000047	Hypospadias	3	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.	69
HP:0010936	HP:0000047	Hypospadias	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0004321	Bladder fistula	3	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010936	HP:0008661	Urethral stenosis	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010936	HP:0000015	Bladder diverticulum	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0008661	Urethral stenosis	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000015	Bladder diverticulum	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0010936	HP:0000805	Enuresis	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0010936	HP:0008661	Urethral stenosis	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0010936	HP:0008661	Urethral stenosis	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010936	HP:0000047	Hypospadias	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000011	Neurogenic bladder	3	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0010936	HP:0000020	Urinary incontinence	3	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0010936	HP:0000047	Hypospadias	3	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0010936	HP:0000020	Urinary incontinence	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare	8
HP:0010936	HP:0000020	Urinary incontinence	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional	8
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0010936	HP:0000011	Neurogenic bladder	3	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0010936	HP:0000047	Hypospadias	3	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0010936	HP:0000020	Urinary incontinence	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0010936	HP:0000047	Hypospadias	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0010936	HP:0000076	Vesicoureteral reflux	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0010936	HP:0000020	Urinary incontinence	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0010936	HP:0000047	Hypospadias	3	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010936	HP:0000047	Hypospadias	3	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010936	HP:0000020	Urinary incontinence	3	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0010936	HP:0010955	Dilatation of the bladder	3	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0010936	HP:0000047	Hypospadias	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0010478	Abnormality of the urachus	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0000047	Hypospadias	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0010936	HP:0000047	Hypospadias	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0010936	HP:0000016	Urinary retention	3	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0010936	HP:0100515	Pollakisuria	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040282 - Frequent	706
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0010936	HP:0000015	Bladder diverticulum	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0010936	HP:0008661	Urethral stenosis	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0010936	HP:0000047	Hypospadias	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0010936	HP:0000047	Hypospadias	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0010936	HP:0000039	Epispadias	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0010936	HP:0000047	Hypospadias	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0010936	HP:0000047	Hypospadias	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010936	HP:0000047	Hypospadias	3	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0010936	HP:0000047	Hypospadias	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0010936	HP:0000020	Urinary incontinence	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0010936	HP:0000047	Hypospadias	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0010936	HP:0000020	Urinary incontinence	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010936	HP:0000020	Urinary incontinence	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	HP:0040282 - Frequent	12
HP:0010936	HP:0008661	Urethral stenosis	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0010936	HP:0000020	Urinary incontinence	3	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040283 - Occasional	117
HP:0010936	HP:0000012	Urinary urgency	3	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0010936	HP:0000020	Urinary incontinence	3	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0010936	HP:0000047	Hypospadias	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0010936	HP:0000047	Hypospadias	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	HP:0040283 - Occasional	494
HP:0010936	HP:0000047	Hypospadias	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0010936	HP:0010955	Dilatation of the bladder	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0010936	HP:0008661	Urethral stenosis	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0010936	HP:0000047	Hypospadias	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0010936	HP:0000047	Hypospadias	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0000020	Urinary incontinence	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0010936	HP:0000020	Urinary incontinence	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0010936	HP:0000020	Urinary incontinence	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0010936	HP:0000805	Enuresis	3	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0010936	HP:0008661	Urethral stenosis	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0010936	HP:0000047	Hypospadias	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010936	HP:0000012	Urinary urgency	3	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0010936	HP:0000047	Hypospadias	3	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0010936	HP:0000047	Hypospadias	3	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0010936	HP:0000047	Hypospadias	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010936	HP:0000047	Hypospadias	3	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0010936	HP:0000047	Hypospadias	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010936	HP:0000076	Vesicoureteral reflux	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0010936	HP:0034378	Urethrovesical occlusion	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0010481	Urethral valve	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010936	HP:0000047	Hypospadias	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0010936	HP:0000047	Hypospadias	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010936	HP:0000047	Hypospadias	3	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0010936	HP:0000047	Hypospadias	3	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	143
HP:0010936	HP:0000047	Hypospadias	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0010936	HP:0000039	Epispadias	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0010936	HP:0000047	Hypospadias	3	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0010936	HP:0000039	Epispadias	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0010936	HP:0000047	Hypospadias	3	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0010936	HP:0000039	Epispadias	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0010936	HP:0000047	Hypospadias	3	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0010936	HP:0000047	Hypospadias	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0010936	HP:0000047	Hypospadias	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0000076	Vesicoureteral reflux	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010936	HP:0002836	Bladder exstrophy	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0010936	HP:0000047	Hypospadias	3	PAICS CL E G H	10606	8587	OMIM:619859
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0010936	HP:0000020	Urinary incontinence	3	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0010936	HP:0008661	Urethral stenosis	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent	39
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0010936	HP:0000047	Hypospadias	3	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	194
HP:0010936	HP:0000076	Vesicoureteral reflux	3	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:0010936	HP:0000076	Vesicoureteral reflux	3	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010936	HP:0000047	Hypospadias	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0010936	HP:0000019	Urinary hesitancy	3	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0010936	HP:0000020	Urinary incontinence	3	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0010936	HP:0000047	Hypospadias	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0010936	HP:0000047	Hypospadias	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0010936	HP:0000047	Hypospadias	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0010936	HP:0000020	Urinary incontinence	3	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0010936	HP:0000020	Urinary incontinence	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0010936	HP:0000020	Urinary incontinence	3	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0010936	HP:0000047	Hypospadias	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0010936	HP:0000047	Hypospadias	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0010936	HP:0000047	Hypospadias	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0010936	HP:0000020	Urinary incontinence	3	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.	4
HP:0010936	HP:0000047	Hypospadias	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0010936	HP:0000047	Hypospadias	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0010936	HP:0000047	Hypospadias	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0010936	HP:0000047	Hypospadias	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0010936	HP:0000047	Hypospadias	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0010936	HP:0000047	Hypospadias	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0010936	HP:0000047	Hypospadias	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0010936	HP:0000047	Hypospadias	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0010936	HP:0000011	Neurogenic bladder	3	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0010936	HP:0000047	Hypospadias	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0010936	HP:0000047	Hypospadias	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0010936	HP:0000047	Hypospadias	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0010936	HP:0000012	Urinary urgency	3	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010936	HP:0000039	Epispadias	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0010936	HP:0000047	Hypospadias	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0010936	HP:0000047	Hypospadias	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0010936	HP:0000047	Hypospadias	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0010936	HP:0000047	Hypospadias	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0010936	HP:0008635	Hypertrophy of the urinary bladder	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional	37
HP:0010936	HP:0032465	Bladder trabeculation	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010936	HP:0000020	Urinary incontinence	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0010936	HP:0000012	Urinary urgency	3	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0010936	HP:0000047	Hypospadias	3	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0010936	HP:0000047	Hypospadias	3	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0010936	HP:0008661	Urethral stenosis	3	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0010936	HP:0000017	Nocturia	3	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0010936	HP:0000047	Hypospadias	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0010936	HP:0008661	Urethral stenosis	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010936	HP:0034378	Urethrovesical occlusion	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0010936	HP:0000015	Bladder diverticulum	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0010936	HP:0000012	Urinary urgency	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010936	HP:0000011	Neurogenic bladder	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent	60
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0010936	HP:0000012	Urinary urgency	3	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0010936	HP:0008661	Urethral stenosis	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0010936	HP:0000047	Hypospadias	3	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0010936	HP:0000047	Hypospadias	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0010936	HP:0000017	Nocturia	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0010936	HP:0000017	Nocturia	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0010936	HP:0000047	Hypospadias	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0010936	HP:0000047	Hypospadias	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0000076	Vesicoureteral reflux	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0000805	Enuresis	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0010936	HP:0000047	Hypospadias	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0010936	HP:0004321	Bladder fistula	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010936	HP:0000047	Hypospadias	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0010936	HP:0000076	Vesicoureteral reflux	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0010936	HP:0000011	Neurogenic bladder	3	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0010936	HP:0000047	Hypospadias	3	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0010936	HP:0000047	Hypospadias	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010936	HP:0000047	Hypospadias	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0010936	HP:0000020	Urinary incontinence	3	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0010936	HP:0000039	Epispadias	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0010936	HP:0000039	Epispadias	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0010936	HP:0000805	Enuresis	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0010936	HP:0000047	Hypospadias	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0010936	HP:0000016	Urinary retention	3	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0010936	HP:0000047	Hypospadias	3	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0010936	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0010936	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0010936	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0010936	HP:0000020	Urinary incontinence	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0010936	HP:0000047	Hypospadias	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010936	HP:0000047	Hypospadias	3	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional	54
HP:0010936	HP:0000039	Epispadias	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0010936	HP:0000047	Hypospadias	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0010936	HP:0000047	Hypospadias	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0010936	HP:0000047	Hypospadias	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0010936	HP:0000047	Hypospadias	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0010936	HP:0000047	Hypospadias	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010936	HP:0000047	Hypospadias	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0010936	HP:0000076	Vesicoureteral reflux	3	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0010936	HP:0000047	Hypospadias	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0010936	HP:0000047	Hypospadias	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0010936	HP:0010478	Abnormality of the urachus	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0010936	HP:0000047	Hypospadias	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0010936	HP:0000047	Hypospadias	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0010936	HP:0000047	Hypospadias	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0010936	HP:0000011	Neurogenic bladder	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0010936	HP:0000016	Urinary retention	3	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0010936	HP:0000047	Hypospadias	3	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0010936	HP:0000012	Urinary urgency	3	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	HP:0040283 - Occasional	87
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040282 - Frequent	3
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0010936	HP:0000047	Hypospadias	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0010936	HP:0000047	Hypospadias	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0010936	HP:0000020	Urinary incontinence	3	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0010936	HP:0000015	Bladder diverticulum	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0010936	HP:0000047	Hypospadias	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0010936	HP:0000805	Enuresis	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0010936	HP:0000020	Urinary incontinence	3	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0010936	HP:0000047	Hypospadias	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010936	HP:0000047	Hypospadias	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0010936	HP:0000047	Hypospadias	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0010936	HP:0000047	Hypospadias	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0010936	HP:0000047	Hypospadias	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0010936	HP:0000047	Hypospadias	3	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0010936	HP:0000047	Hypospadias	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0010936	HP:0000047	Hypospadias	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0010936	HP:0000047	Hypospadias	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0010936	HP:0000047	Hypospadias	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0010936	HP:0000047	Hypospadias	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0010936	HP:0000047	Hypospadias	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0010936	HP:0000047	Hypospadias	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0010936	HP:0000047	Hypospadias	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0010936	HP:0000047	Hypospadias	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000017	Nocturia	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0010936	HP:0000047	Hypospadias	3	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0010936	HP:0000020	Urinary incontinence	3	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0010936	HP:0008661	Urethral stenosis	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0010936	HP:0000012	Urinary urgency	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0010936	HP:0000020	Urinary incontinence	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0010936	HP:0000012	Urinary urgency	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0010936	HP:0000020	Urinary incontinence	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0010936	HP:0000047	Hypospadias	3	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0010936	HP:0000020	Urinary incontinence	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0010936	HP:0000020	Urinary incontinence	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0010936	HP:0000012	Urinary urgency	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0010936	HP:0000047	Hypospadias	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010936	HP:0010481	Urethral valve	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010936	HP:0000047	Hypospadias	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010936	HP:0010481	Urethral valve	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010936	HP:0000015	Bladder diverticulum	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent	86
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0010936	HP:0000047	Hypospadias	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0010936	HP:0000020	Urinary incontinence	3	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional	16
HP:0010936	HP:0000020	Urinary incontinence	3	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0010936	HP:0000047	Hypospadias	3	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	304
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	16
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	237
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	129
HP:0010936	HP:0000047	Hypospadias	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0010936	HP:0000047	Hypospadias	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010936	HP:0000047	Hypospadias	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0010936	HP:0000047	Hypospadias	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0010936	HP:0034378	Urethrovesical occlusion	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0010481	Urethral valve	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010936	HP:0000047	Hypospadias	3	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010936	HP:0000047	Hypospadias	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0010936	HP:0000020	Urinary incontinence	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0010936	HP:0000047	Hypospadias	3	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0010936	HP:0000047	Hypospadias	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	.	50
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0010936	HP:0000047	Hypospadias	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0010936	HP:0000047	Hypospadias	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0010936	HP:0000047	Hypospadias	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010936	HP:0000017	Nocturia	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0010936	HP:0000017	Nocturia	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0010936	HP:0000020	Urinary incontinence	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0010936	HP:0000805	Enuresis	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0010936	HP:0000805	Enuresis	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0010936	HP:0000020	Urinary incontinence	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000020	Urinary incontinence	3	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0010936	HP:0000047	Hypospadias	3	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0010936	HP:0000805	Enuresis	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0010936	HP:0000017	Nocturia	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0010936	HP:0000020	Urinary incontinence	3	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	255
HP:0010936	HP:0004321	Bladder fistula	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010936	HP:0000020	Urinary incontinence	3	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0010936	HP:0000805	Enuresis	3	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0010936	HP:0000020	Urinary incontinence	3	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0010936	HP:0000047	Hypospadias	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0010936	HP:0100645	Cystocele	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010936	HP:0000039	Epispadias	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0010936	HP:0000047	Hypospadias	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0010936	HP:0000047	Hypospadias	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0000805	Enuresis	3	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010936	HP:0000015	Bladder diverticulum	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0010936	HP:0000047	Hypospadias	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0010936	HP:0000047	Hypospadias	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0010936	HP:0000020	Urinary incontinence	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0010936	HP:0000047	Hypospadias	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0010936	HP:0000020	Urinary incontinence	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0010936	HP:0000047	Hypospadias	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0010936	HP:0000047	Hypospadias	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0010936	HP:0000047	Hypospadias	3	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0010936	HP:0000047	Hypospadias	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0010936	HP:0000020	Urinary incontinence	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0010936	HP:0000047	Hypospadias	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0010936	HP:0000012	Urinary urgency	3	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0010936	HP:0000011	Neurogenic bladder	3	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0010936	HP:0000012	Urinary urgency	3	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0010936	HP:0000047	Hypospadias	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0010936	HP:0000047	Hypospadias	3	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0010936	HP:0000047	Hypospadias	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0010936	HP:0000047	Hypospadias	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0010936	HP:0000047	Hypospadias	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010936	HP:0000047	Hypospadias	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010936	HP:0000016	Urinary retention	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0010936	HP:0100518	Dysuria	3	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0010936	HP:0000012	Urinary urgency	3	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0010936	HP:0000012	Urinary urgency	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0010936	HP:0000020	Urinary incontinence	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0010936	HP:0000047	Hypospadias	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0010936	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0010936	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0010936	HP:0000012	Urinary urgency	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0010936	HP:0000020	Urinary incontinence	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0010936	HP:0000012	Urinary urgency	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0010936	HP:0000020	Urinary incontinence	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0010936	HP:0000012	Urinary urgency	3	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0010936	HP:0000076	Vesicoureteral reflux	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010936	HP:0000047	Hypospadias	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010936	HP:0000020	Urinary incontinence	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0010936	HP:0000020	Urinary incontinence	3	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	HP:0040283 - Occasional	62
HP:0010936	HP:0000047	Hypospadias	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0000047	Hypospadias	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0034378	Urethrovesical occlusion	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0034378	Urethrovesical occlusion	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0010481	Urethral valve	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010936	HP:0010481	Urethral valve	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0000047	Hypospadias	3	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency		86
HP:0010936	HP:0000047	Hypospadias	3	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0010936	HP:0000039	Epispadias	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010936	HP:0000047	Hypospadias	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0010936	HP:0000047	Hypospadias	3	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0010936	HP:0000047	Hypospadias	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010936	HP:0000047	Hypospadias	3	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0010936	HP:0000047	Hypospadias	3	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.	12
HP:0010936	HP:0000076	Vesicoureteral reflux	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	HP:0040283 - Occasional	24
HP:0010936	HP:0000047	Hypospadias	3	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45
HP:0010936	HP:0000016	Urinary retention	3	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0010936	HP:0031261	Bladder polyp	3	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0010936	HP:0000076	Vesicoureteral reflux	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0010936	HP:0000020	Urinary incontinence	3	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0010936	HP:0000015	Bladder diverticulum	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0010936	HP:0000020	Urinary incontinence	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0010936	HP:0000020	Urinary incontinence	3	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0010936	HP:0000047	Hypospadias	3	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0010936	HP:0000047	Hypospadias	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010936	HP:0000011	Neurogenic bladder	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0010936	HP:0000020	Urinary incontinence	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0010936	HP:0000020	Urinary incontinence	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0010936	HP:0000011	Neurogenic bladder	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0010936	HP:0000015	Bladder diverticulum	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000012	Urinary urgency	3	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0010936	HP:0000020	Urinary incontinence	3	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0010936	HP:0000047	Hypospadias	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0010936	HP:0008661	Urethral stenosis	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0010936	HP:0000047	Hypospadias	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0010936	HP:0000047	Hypospadias	3	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0010936	HP:0000020	Urinary incontinence	3	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0010936	HP:0000047	Hypospadias	3	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0010936	HP:0008661	Urethral stenosis	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0010936	HP:0008661	Urethral stenosis	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0010936	HP:0008661	Urethral stenosis	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0010936	HP:0000020	Urinary incontinence	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0010936	HP:0000047	Hypospadias	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0010936	HP:0000016	Urinary retention	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0010936	HP:0000047	Hypospadias	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0010936	HP:0000020	Urinary incontinence	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional	1
HP:0010936	HP:0000020	Urinary incontinence	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0010936	HP:0008661	Urethral stenosis	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0010936	HP:0008661	Urethral stenosis	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010936	HP:0000015	Bladder diverticulum	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0010936	HP:0000047	Hypospadias	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0010936	HP:0000047	Hypospadias	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0010936	HP:0000047	Hypospadias	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0010936	HP:0000047	Hypospadias	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0010936	HP:0000039	Epispadias	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0010936	HP:0002836	Bladder exstrophy	3	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0010936	HP:0000015	Bladder diverticulum	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010936	HP:0008661	Urethral stenosis	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010936	HP:0010955	Dilatation of the bladder	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010936	HP:0000047	Hypospadias	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0010936	HP:0000047	Hypospadias	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0010936	HP:0000020	Urinary incontinence	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0010936	HP:0000011	Neurogenic bladder	3	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0010936	HP:0000047	Hypospadias	3	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0010936	HP:0000020	Urinary incontinence	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010936	HP:0000012	Urinary urgency	3	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0010936	HP:0000012	Urinary urgency	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0010936	HP:0000020	Urinary incontinence	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0010936	HP:0000076	Vesicoureteral reflux	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0010936	HP:0000047	Hypospadias	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0010936	HP:0000047	Hypospadias	3	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.	41
HP:0010936	HP:0000020	Urinary incontinence	3	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0010936	HP:0000047	Hypospadias	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0010936	HP:0000017	Nocturia	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0010936	HP:0008661	Urethral stenosis	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0010936	HP:0000020	Urinary incontinence	3	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0010936	HP:0000047	Hypospadias	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0010936	HP:0000012	Urinary urgency	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0010936	HP:0000020	Urinary incontinence	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0010936	HP:0000012	Urinary urgency	3	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0010936	HP:0000047	Hypospadias	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0010936	HP:0000076	Vesicoureteral reflux	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0010936	HP:0000047	Hypospadias	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0010936	HP:0000047	Hypospadias	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0010936	HP:0000047	Hypospadias	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0010936	HP:0008716	Urethrovaginal fistula	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0010936	HP:0000047	Hypospadias	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0002836	Bladder exstrophy	3	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0010936	HP:0008661	Urethral stenosis	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0010936	HP:0000047	Hypospadias	3	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0010936	HP:0000047	Hypospadias	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0010936	HP:0000047	Hypospadias	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010936	HP:0000076	Vesicoureteral reflux	3	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0010936	HP:0000020	Urinary incontinence	3	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0010936	HP:0000011	Neurogenic bladder	3	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0010936	HP:0000016	Urinary retention	3	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0010936	HP:0000020	Urinary incontinence	3	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0010936	HP:0000020	Urinary incontinence	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0010936	HP:0000011	Neurogenic bladder	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0010936	HP:0000011	Neurogenic bladder	3	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0010936	HP:0005340	Spastic/hyperactive bladder	3	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	37
HP:0010936	HP:0000015	Bladder diverticulum	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000076	Vesicoureteral reflux	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0008661	Urethral stenosis	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0010936	HP:0000047	Hypospadias	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0010936	HP:0000012	Urinary urgency	3	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0010936	HP:0000020	Urinary incontinence	3	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0010936	HP:0000047	Hypospadias	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0010936	HP:0000012	Urinary urgency	3	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0010936	HP:0000020	Urinary incontinence	3	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0010936	HP:0008716	Urethrovaginal fistula	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0010936	HP:0000047	Hypospadias	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0010936	HP:0000076	Vesicoureteral reflux	3	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0010936	HP:0100518	Dysuria	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	389
HP:0010936	HP:0000011	Neurogenic bladder	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0010936	HP:0000047	Hypospadias	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0010936	HP:0000047	Hypospadias	3	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0010936	HP:0010476	Aplasia/Hypoplasia of the bladder	3	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0010936	HP:0000039	Epispadias	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010936	HP:0000047	Hypospadias	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010936	HP:0000047	Hypospadias	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0010936	HP:0008661	Urethral stenosis	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0010936	HP:0000047	Hypospadias	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010936	HP:0000047	Hypospadias	3	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	177
HP:0010936	HP:0000047	Hypospadias	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040283 - Occasional	149
HP:0010936	HP:0000047	Hypospadias	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0010936	HP:0000020	Urinary incontinence	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010936	HP:0000047	Hypospadias	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0010936	HP:0000020	Urinary incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0010936	HP:0000047	Hypospadias	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0010936	HP:0000020	Urinary incontinence	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0010936	HP:0000047	Hypospadias	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0010936	HP:0000047	Hypospadias	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010936	HP:0000012	Urinary urgency	3	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0010936	HP:0000020	Urinary incontinence	3	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0010936	HP:0002839	Urinary bladder sphincter dysfunction	3	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0010936	HP:0000047	Hypospadias	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0010936	HP:0000047	Hypospadias	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0010936	HP:0000047	Hypospadias	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0010936	HP:0000020	Urinary incontinence	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000047	Hypospadias	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000076	Vesicoureteral reflux	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000805	Enuresis	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0008661	Urethral stenosis	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0000047	Hypospadias	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010936	HP:0008664	Urethral sphincter sclerosis	4	CL E G H
HP:0010936	HP:0008691	Solitary bladder diverticulum	4	CL E G H
HP:0010936	HP:0010678	Enuresis diurna	4	CL E G H
HP:0010936	HP:0012853	Scrotal hypospadias	4	CL E G H
HP:0010936	HP:0030733	Vesicoallantoic abdominal wall defect	4	CL E G H
HP:0010936	HP:0030754	Allantoic cyst	4	CL E G H
HP:0010936	HP:0033738	Primary vesicoureteral reflux	4	CL E G H
HP:0010936	HP:0033739	Secondary vesicoureteral reflux	4	CL E G H
HP:0010936	HP:0034255	Colovesical fistula	4	CL E G H
HP:0010936	HP:0034451	Rectovesical fistula	4	CL E G H
HP:0010936	HP:0000021	Megacystis	4	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040281 - Very frequent	23
HP:0010936	HP:0000021	Megacystis	4	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent	23
HP:0010936	HP:0000021	Megacystis	4	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010936	HP:0000021	Megacystis	4	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010936	HP:0000021	Megacystis	4	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.	75
HP:0010936	HP:0010677	Enuresis nocturna	4	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare	75
HP:0010936	HP:0000051	Perineal hypospadias	4	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked	.	125
HP:0010936	HP:0000051	Perineal hypospadias	4	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0010936	HP:0000051	Perineal hypospadias	4	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0010936	HP:0000021	Megacystis	4	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0010936	HP:0010677	Enuresis nocturna	4	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare	67
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010936	HP:0010677	Enuresis nocturna	4	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent	22
HP:0010936	HP:0010477	Aplasia of the bladder	4	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0010936	HP:0012227	Urethral stricture	4	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010936	HP:0012227	Urethral stricture	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0010936	HP:0012227	Urethral stricture	4	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.	3
HP:0010936	HP:0012854	Midshaft hypospadias	4	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0010936	HP:0012854	Midshaft hypospadias	4	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010936	HP:0000051	Perineal hypospadias	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0010936	HP:0012619	Multiple bladder diverticula	4	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0010936	HP:0003244	Penile hypospadias	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0010936	HP:0010677	Enuresis nocturna	4	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0010936	HP:0012619	Multiple bladder diverticula	4	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0010936	HP:0012227	Urethral stricture	4	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0010936	HP:0008743	Coronal hypospadias	4	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0010936	HP:0008743	Coronal hypospadias	4	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0010936	HP:0008743	Coronal hypospadias	4	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0010936	HP:0012227	Urethral stricture	4	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0010936	HP:0010477	Aplasia of the bladder	4	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0010936	HP:0100525	Urachus fistula	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010936	HP:0000051	Perineal hypospadias	4	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0010936	HP:0003244	Penile hypospadias	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010936	HP:0000807	Glandular hypospadias	4	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0010936	HP:0010477	Aplasia of the bladder	4	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0010936	HP:0012227	Urethral stricture	4	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0010936	HP:0010477	Aplasia of the bladder	4	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0010936	HP:0010477	Aplasia of the bladder	4	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0010936	HP:0012227	Urethral stricture	4	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0010936	HP:0010677	Enuresis nocturna	4	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0010936	HP:0012227	Urethral stricture	4	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010936	HP:0012227	Urethral stricture	4	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010936	HP:0012227	Urethral stricture	4	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010936	HP:0000021	Megacystis	4	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent
HP:0010936	HP:0000021	Megacystis	4	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0010956	Fetal megacystis	4	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010936	HP:0000021	Megacystis	4	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010936	HP:0012619	Multiple bladder diverticula	4	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked	.	5
HP:0010936	HP:0000807	Glandular hypospadias	4	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0003244	Penile hypospadias	4	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010936	HP:0000807	Glandular hypospadias	4	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0010936	HP:0001586	Vesicovaginal fistula	4	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0010936	HP:0012227	Urethral stricture	4	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0010936	HP:0012227	Urethral stricture	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0010936	HP:0000807	Glandular hypospadias	4	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0010936	HP:0003244	Penile hypospadias	4	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0010936	HP:0000021	Megacystis	4	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent	418
HP:0010936	HP:0000021	Megacystis	4	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0010956	Fetal megacystis	4	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0010936	HP:0000021	Megacystis	4	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0010936	HP:0000021	Megacystis	4	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010936	HP:0000021	Megacystis	4	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent	326
HP:0010936	HP:0010956	Fetal megacystis	4	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0010936	HP:0000807	Glandular hypospadias	4	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0010936	HP:0000807	Glandular hypospadias	4	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0010936	HP:0010956	Fetal megacystis	4	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0010936	HP:0010479	Patent urachus	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0010936	HP:0000021	Megacystis	4	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0010936	HP:0010992	Stress urinary incontinence	4	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010936	HP:0008743	Coronal hypospadias	4	PAICS CL E G H	10606	8587	OMIM:619859
HP:0010936	HP:0012227	Urethral stricture	4	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0010936	HP:0012227	Urethral stricture	4	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0010936	HP:0010477	Aplasia of the bladder	4	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0010936	HP:0012227	Urethral stricture	4	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0010936	HP:0001586	Vesicovaginal fistula	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0010936	HP:0010677	Enuresis nocturna	4	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0010936	HP:0012618	Urachal cyst	4	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0010936	HP:0010677	Enuresis nocturna	4	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010936	HP:0001586	Vesicovaginal fistula	4	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010936	HP:0010677	Enuresis nocturna	4	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	HP:0040283 - Occasional	41
HP:0010936	HP:0012619	Multiple bladder diverticula	4	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent	146
HP:0010936	HP:0000807	Glandular hypospadias	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0010957	Congenital posterior urethral valve	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010936	HP:0000051	Perineal hypospadias	4	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0010936	HP:0000051	Perineal hypospadias	4	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0010936	HP:0000808	Penoscrotal hypospadias	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0010936	HP:0008743	Coronal hypospadias	4	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0010936	HP:0012227	Urethral stricture	4	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0010936	HP:0012227	Urethral stricture	4	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010936	HP:0000021	Megacystis	4	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010936	HP:0033733	Low-grade vesicoureteral reflux	4	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0010936	HP:0005343	Hypoplasia of the bladder	4	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0010936	HP:0033734	High-grade vesicoureteral reflux	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0012227	Urethral stricture	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010936	HP:0025413	Fossa navicularis urethral stricture	5	CL E G H
HP:0010936	HP:0025414	Pendulous urethral stricture	5	CL E G H
HP:0010936	HP:0025415	Bulbar urethral stricture	5	CL E G H
HP:0010936	HP:0033735	Grade I vesicoureteral reflux	5	CL E G H
HP:0010936	HP:0033740	Grade V vesicoureteral reflux	5	CL E G H
HP:0010936	HP:0033741	Grade IV vesicoureteral reflux	5	CL E G H
HP:0010936	HP:0033742	Intrarenal reflux	5	CL E G H
HP:0010936	HP:0033736	Grade II vesicoureteral reflux	5	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010936	HP:0033737	Grade III vesicoureteral reflux	5	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (801) :ABCD1 ABL1 ACER3 ACTA1 ACTG2 ADA2 ADAT3 ADH1C ADNP AFF4 AGXT AIP AKT1 ALDH18A1 ALG12 ALG9 ALMS1 ALS2 ANKLE2 ANKRD11 AP5Z1 APC2 APRT AQP2 AR ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARNT2 ARSA ARVCF ARX ASPM ASXL1 ATL1 ATP13A2 ATP1A3 ATP6AP2 ATP7A ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS AUH AVPR2 B3GLCT B4GALNT1 B9D1 B9D2 BAP1 BAZ1B BCL7B BCOR BDNF BICC1 BICRA BIN1 BNC2 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B BUD23 C19ORF12 C2CD3 CABP4 CACNA1G CACNA1H CACNA1S CAMK2B CAPN1 CARMIL2 CARS1 CASZ1 CC2D2A CCBE1 CCDC22 CCDC8 CCL2 CCND1 CCNQ CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDK5RAP2 CDK6 CDKN1C CDT1 CENPJ CEP135 CEP152 CEP290 CEP63 CEP85L CFAP43 CHCHD10 CHD4 CHD7 CHMP2B CHRM3 CHRNA2 CHRNA3 CHRNA4 CHRNB2 CHRNG CHST14 CILK1 CISD2 CIT CLCN6 CLCNKB CLIP2 CLMP CLN3 COG1 COG5 COG7 COL18A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 COLEC10 COLEC11 COMT COPB1 COPB2 COQ2 COX7B CPLX1 CPT1C CREBBP CRH CSPP1 CTBP1 CTC1 CUL4B CUL7 CYB5A CYP11A1 CYP17A1 CYP21A2 CYP7B1 DACT1 DARS2 DBH DCDC2 DCHS1 DDHD2 DDX6 DEPDC5 DHCR7 DHX37 DKC1 DKK1 DLG3 DLL3 DMPK DMRT3 DNAJC13 DNAJC19 DNAJC30 DNM2 DNMT1 DNMT3A DPF2 DPH1 DPH5 DSE DSTYK DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DYSF EBF3 EFEMP2 EFNB1 EHMT1 EIF2AK1 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 EN1 EP300 EPG5 EPHB4 ERCC4 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 EVC EVC2 EXT1 EXT2 EYA1 FA2H FAM20A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBLN5 FBXL4 FBXO7 FDFT1 FERMT1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FITM2 FKBP14 FKBP6 FLNA FLT4 FLVCR1 FMR1 FOCAD FOXC1 FOXF1 FOXP1 FRAS1 FREM2 FRMD5 FUS FUZ FXN FZD2 G6PC3 GAA GABRA1 GABRA3 GABRB3 GABRD GABRG2 GALC GALNT2 GATA1 GATA3 GATA4 GATAD2B GBA1 GBA2 GBE1 GFAP GIGYF2 GJA1 GJC2 GLI1 GLI3 GLUD2 GMNN GNA11 GNB1 GNB2 GP1BB GPC3 GPC4 GPR101 GRB10 GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H19-ICR H4C11 H4C9 HAAO HACE1 HBA1 HBA2 HCCS HDAC8 HES7 HEXB HIRA HLA-B HLA-DQB1 HLA-DRB1 HMBS HMGA2 HNF1B HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPK HNRNPU HOGA1 HOXA13 HOXD13 HPDL HPRT1 HPSE2 HS6ST2 HSD17B10 HSD17B3 HSD3B2 HSPA9 HSPD1 HSPG2 HTRA1 HUWE1 HYLS1 IFT57 IFT80 IGF2 IGHMBP2 IKZF1 ISL1 ITGA6 ITGB4 JAG1 JMJD1C JRK KANSL1 KARS1 KAT5 KCNAB2 KCNC3 KCND3 KCNJ10 KCNJ18 KCNQ1 KCNQ1OT1 KCNT1 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF14 KIF1A KIF5A KIF7 KIFBP KLF1 KLHL40 KLHL41 KMT2B KMT2C KMT2D KNL1 KPNA3 KRAS KY LAMA3 LAMB3 LAMC2 LETM1 LFNG LIG3 LIG4 LIMK1 LMNA LMNB1 LMOD1 LMOD3 LRIG2 LRRK2 LSS LTBP1 LTBP4 LUZP1 MAB21L2 MACF1 MAD2L2 MAMLD1 MAP2K1 MAP3K1 MAP3K7 MAPKAPK5 MAPRE2 MAPT MARS2 MBTPS2 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED25 MED27 MESP2 METTL27 METTL5 MFSD2A MID1 MKKS MKS1 MLXIPL MMP1 MMP23B MNX1 MORC2 MPZ MTFMT MTM1 MTMR14 MTOR MYCN MYF6 MYH11 MYL9 MYLK MYMK MYMX MYO1H MYOCD MYRF NAA10 NAB2 NBN NCAPD3 NCAPG2 NCF1 NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NEFL NELFA NEXMIF NF2 NFIA NHP2 NIPA1 NIPBL NKX2-1 NOP10 NOTCH2 NOTCH2NLC NOTCH3 NPHP3 NPM1 NR0B1 NR2F2 NR4A2 NR5A1 NRIP1 NSD1 NSD2 NSUN2 OBSL1 OGT ORC1 ORC4 ORC6 OTUD5 PAH PAICS PAK2 PALB2 PANK2 PARN PAX2 PAX6 PBX1 PCNT PDCD1 PDE4D PDGFB PDGFRB PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHC1 PI4KA PIEZO2 PIGA PIGG PIGN PIGO PIGQ PIK3CA PIK3R5 PINK1 PITX2 PKP1 PLA2G6 PLAG1 PLD1 PLEC PLOD1 PLP1 PLXNA1 PMP22 PNPLA6 PNPT1 POLA1 POLE POLG POLG2 POLR3A POLRMT POR PPOX PPP1R12A PPP3CA PQBP1 PRDM16 PRDM8 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRMT7 PRNP PRPS1 PSAP PSMD12 PSPH PTDSS1 PTPN11 PUF60 PYCR2 RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RALGAPA1 RARB RASA1 RBBP8 RBCK1 RBM8A RECQL4 REEP1 REEP2 RERE RETREG1 RFC2 RFWD3 RIN2 RIPPLY2 RLIM RNF168 RNF170 ROBO2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RRM2B RSPO1 RSRC1 RTEL1 RTN2 RTTN RYR1 SACS SALL1 SALL4 SAMD9 SASS6 SBF1 SCN9A SCUBE3 SDHA SDHAF1 SDHB SDHD SEC24C SEMA3E SETBP1 SETD2 SETD5 SETX SF3B2 SH2B1 SHANK3 SIAH1 SIGMAR1 SIN3A SIX1 SIX5 SIX6 SKI SKIC3 SLC12A3 SLC1A4 SLC20A2 SLC25A10 SLC25A13 SLC25A4 SLC2A1 SLC35A2 SLC44A1 SLC5A2 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMS SNCA SNCAIP SOX11 SOX17 SOX2 SOX4 SOX9 SP110 SPART SPAST SPEN SPG11 SPG7 SPOP SPTBN1 SPTLC1 SQSTM1 SRCAP SRD5A2 SRY SSR4 STAMBP STAR STAT1 STAT6 STIL STK11 STRA6 STUB1 STX1A SUCLG1 SUFU SYNE1 SYNGAP1 TAF13 TAPT1 TBCD TBCK TBL2 TBP TBX1 TBX22 TBXT TCF12 TCTN1 TCTN2 TCTN3 TERC TERT TFAP2A TGFB1 THOC6 TIMM50 TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TNXB TOM1 TONSL TP63 TRAF7 TRAPPC10 TRAPPC12 TRAPPC14 TRIM8 TRIO TRNT TRPS1 TRPV4 TRRAP TSR2 TTC8 TTR TUBB TWNK TXNDC15 TYMS TYROBP UBA1 UBAP1 UBE2A UBE2T UBE4B UBR1 UFD1 UNC45A UPB1 USB1 USP9X VAC14 VAMP7 VANGL1 VANGL2 VCP VPS11 VPS35 VPS37D WASHC5 WDR35 WDR62 WFS1 WNT3 WNT4 WNT5A WNT7A WRAP53 WT1 WWOX XRCC2 ZC4H2 ZEB2 ZFPM2 ZFYVE26 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699

Diseases (712) :OMIM:300100 ORPHA:139399 OMIM:617602 OMIM:617762 ORPHA:171430 ORPHA:2604 ORPHA:2241 OMIM:619431 OMIM:155310 ORPHA:124 ORPHA:363528 OMIM:168600 ORPHA:404448 OMIM:616368 ORPHA:444077 ORPHA:93598 ORPHA:963 ORPHA:2495 ORPHA:90348 ORPHA:447753 ORPHA:447760 OMIM:601162 OMIM:616586 ORPHA:79324 OMIM:607143 ORPHA:79328 ORPHA:64 OMIM:205100 ORPHA:300605 ORPHA:247604 OMIM:607225 ORPHA:2512 OMIM:148050 ORPHA:306511 OMIM:613647 ORPHA:821 ORPHA:976 OMIM:125800 ORPHA:223 OMIM:300633 ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:617164 ORPHA:1465 OMIM:135900 ORPHA:1556 OMIM:615926 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:300419 OMIM:605039 ORPHA:97297 ORPHA:100984 OMIM:182600 ORPHA:513436 ORPHA:306674 OMIM:617225 OMIM:601338 OMIM:301045 ORPHA:565 OMIM:304150 ORPHA:198 OMIM:210600 OMIM:301040 OMIM:309580 OMIM:164400 OMIM:603516 ORPHA:98761 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:98760 OMIM:250950 OMIM:304800 ORPHA:709 OMIM:261540 OMIM:609195 ORPHA:564 OMIM:614175 ORPHA:904 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:893 OMIM:601331 OMIM:619325 ORPHA:169189 OMIM:618612 ORPHA:93110 ORPHA:529962 OMIM:163950 ORPHA:500 ORPHA:84 ORPHA:199 OMIM:257300 ORPHA:289560 ORPHA:434179 OMIM:615948 ORPHA:98784 OMIM:616795 ORPHA:458803 ORPHA:64280 ORPHA:79102 OMIM:617799 ORPHA:488594 OMIM:616907 OMIM:618131 OMIM:618891 ORPHA:1606 OMIM:612284 OMIM:235510 ORPHA:7 ORPHA:2616 OMIM:182940 ORPHA:29073 ORPHA:140952 OMIM:300707 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 OMIM:130650 ORPHA:85173 OMIM:614732 ORPHA:397590 ORPHA:572013 OMIM:236690 OMIM:615911 OMIM:617159 ORPHA:138 OMIM:600795 ORPHA:2970 OMIM:100100 OMIM:191800 OMIM:265000 ORPHA:2953 OMIM:612651 ORPHA:3463 OMIM:604928 OMIM:619173 ORPHA:358 ORPHA:2301 ORPHA:228346 OMIM:611209 ORPHA:263487 OMIM:613612 OMIM:608779 ORPHA:1571 ORPHA:287 OMIM:617821 OMIM:130050 ORPHA:286 ORPHA:79408 ORPHA:79409 OMIM:248340 OMIM:265050 OMIM:619255 OMIM:146500 ORPHA:2556 OMIM:309801 ORPHA:280 OMIM:194190 ORPHA:444099 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:397715 ORPHA:1775 OMIM:300354 OMIM:273750 ORPHA:90796 OMIM:250790 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:201910 OMIM:270800 ORPHA:857 OMIM:617466 ORPHA:137898 ORPHA:230 OMIM:223360 OMIM:617394 ORPHA:314679 OMIM:601390 OMIM:615033 OMIM:618653 OMIM:270400 ORPHA:818 OMIM:273250 ORPHA:251510 OMIM:305000 ORPHA:268882 OMIM:300850 ORPHA:2311 ORPHA:589821 ORPHA:411602 OMIM:610198 ORPHA:66634 ORPHA:314404 OMIM:615879 ORPHA:459061 OMIM:620070 OMIM:610805 ORPHA:3107 OMIM:616894 ORPHA:93271 ORPHA:289 ORPHA:268261 ORPHA:464311 ORPHA:268 OMIM:617330 ORPHA:90349 ORPHA:1520 OMIM:304110 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:618878 OMIM:618877 OMIM:194050 OMIM:618527 OMIM:619218 ORPHA:353284 OMIM:242840 ORPHA:137667 ORPHA:90324 ORPHA:75857 ORPHA:2319 OMIM:268300 OMIM:225500 ORPHA:321 ORPHA:502 ORPHA:107 OMIM:113650 ORPHA:171629 OMIM:612319 ORPHA:1031 OMIM:204690 OMIM:314390 OMIM:603467 OMIM:609053 ORPHA:466722 OMIM:615546 OMIM:219100 OMIM:615471 ORPHA:171695 OMIM:618156 ORPHA:2908 OMIM:173650 OMIM:149730 ORPHA:2363 OMIM:615465 OMIM:166250 ORPHA:93260 ORPHA:3472 OMIM:216340 OMIM:618635 OMIM:614557 ORPHA:1826 ORPHA:2484 ORPHA:90652 OMIM:304120 OMIM:153100 OMIM:609033 OMIM:300623 ORPHA:93256 OMIM:619991 ORPHA:782 OMIM:265380 OMIM:613670 ORPHA:2052 OMIM:219000 OMIM:617666 OMIM:620094 ORPHA:1136 ORPHA:3027 ORPHA:95 OMIM:164745 OMIM:612541 OMIM:232300 ORPHA:206448 OMIM:618885 ORPHA:2237 ORPHA:251071 OMIM:615542 ORPHA:363686 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:206583 OMIM:263570 ORPHA:363722 OMIM:164200 ORPHA:2710 ORPHA:320401 OMIM:613206 ORPHA:36 OMIM:175700 OMIM:146510 ORPHA:672 ORPHA:93322 OMIM:616973 OMIM:619503 ORPHA:373 OMIM:312870 ORPHA:96182 OMIM:617805 OMIM:617667 OMIM:180860 OMIM:619759 OMIM:619951 OMIM:617660 ORPHA:464282 ORPHA:98791 OMIM:268800 ORPHA:309162 ORPHA:36426 OMIM:126200 ORPHA:79276 OMIM:176000 ORPHA:93111 OMIM:137920 ORPHA:52430 OMIM:620083 ORPHA:352665 ORPHA:453504 ORPHA:238769 ORPHA:93600 OMIM:140000 ORPHA:2438 OMIM:176305 ORPHA:887 OMIM:619027 ORPHA:79233 ORPHA:2704 OMIM:236730 OMIM:301025 ORPHA:391428 ORPHA:752 OMIM:201810 ORPHA:90791 OMIM:616854 ORPHA:100994 OMIM:605280 OMIM:600142 OMIM:309590 OMIM:236680 OMIM:617927 OMIM:616489 OMIM:604320 ORPHA:93930 ORPHA:79403 ORPHA:158684 OMIM:619816 OMIM:226730 OMIM:118450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:619103 ORPHA:98768 ORPHA:98772 ORPHA:199343 OMIM:612780 ORPHA:477993 OMIM:618846 OMIM:618109 ORPHA:2322 OMIM:619479 OMIM:610357 ORPHA:100991 OMIM:604187 OMIM:200990 ORPHA:66629 OMIM:613673 OMIM:619934 ORPHA:171612 OMIM:600268 ORPHA:3339 OMIM:617114 ORPHA:79404 OMIM:619780 ORPHA:235 ORPHA:1662 ORPHA:99027 OMIM:619362 OMIM:615112 OMIM:618840 OMIM:613177 OMIM:615877 OMIM:300758 ORPHA:456328 OMIM:613762 OMIM:157800 OMIM:617137 OMIM:619869 ORPHA:2505 OMIM:616734 ORPHA:314603 OMIM:611390 ORPHA:85284 ORPHA:1596 OMIM:300260 ORPHA:1762 ORPHA:93932 OMIM:301068 OMIM:305450 OMIM:618872 OMIM:616449 ORPHA:464738 OMIM:619286 ORPHA:2745 OMIM:300000 OMIM:605231 ORPHA:2473 OMIM:236700 OMIM:249000 OMIM:176450 ORPHA:1552 ORPHA:466768 OMIM:616688 ORPHA:3115 OMIM:618248 ORPHA:457485 ORPHA:391641 OMIM:619351 OMIM:619350 OMIM:619365 OMIM:249210 ORPHA:1358 OMIM:619482 OMIM:618719 OMIM:618280 ORPHA:2126 ORPHA:647 OMIM:618460 OMIM:618253 OMIM:619272 OMIM:620135 OMIM:252010 OMIM:619334 ORPHA:101085 OMIM:300912 OMIM:613735 ORPHA:100988 OMIM:600363 OMIM:122470 ORPHA:209905 OMIM:102500 ORPHA:955 OMIM:603472 OMIM:125310 ORPHA:136 OMIM:604387 OMIM:618901 ORPHA:2138 OMIM:617480 OMIM:612965 OMIM:618270 OMIM:300997 OMIM:613803 OMIM:301056 ORPHA:2209 OMIM:619859 OMIM:234200 OMIM:120330 ORPHA:1475 ORPHA:97362 OMIM:120200 ORPHA:137902 OMIM:194072 OMIM:617641 OMIM:210720 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:213600 OMIM:214100 ORPHA:912 OMIM:614920 OMIM:617370 OMIM:619621 ORPHA:2461 OMIM:248700 OMIM:300868 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:618548 ORPHA:64753 OMIM:605909 OMIM:180500 ORPHA:158668 OMIM:612953 OMIM:212093 OMIM:226670 OMIM:225400 OMIM:312080 ORPHA:280229 ORPHA:99015 OMIM:619955 ORPHA:2377 ORPHA:101111 OMIM:301220 OMIM:618336 ORPHA:254892 ORPHA:3455 OMIM:264090 OMIM:619743 OMIM:201750 ORPHA:95699 ORPHA:79473 OMIM:618820 OMIM:618265 OMIM:309500 OMIM:616640 OMIM:619680 ORPHA:464288 OMIM:600072 OMIM:300661 OMIM:249900 OMIM:617516 ORPHA:79350 ORPHA:2658 OMIM:151050 OMIM:151100 ORPHA:508488 ORPHA:508498 OMIM:617751 ORPHA:500159 OMIM:608203 OMIM:611376 OMIM:618797 ORPHA:2470 ORPHA:90307 OMIM:606744 OMIM:615895 OMIM:274000 ORPHA:1225 OMIM:610250 ORPHA:401849 OMIM:615625 OMIM:616975 ORPHA:494344 OMIM:613115 OMIM:613075 OMIM:300978 ORPHA:420741 OMIM:619686 OMIM:610878 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:612562 OMIM:612528 OMIM:610644 OMIM:618402 ORPHA:100993 OMIM:604805 ORPHA:468631 ORPHA:98 OMIM:270550 OMIM:107480 ORPHA:959 OMIM:607323 OMIM:617053 OMIM:615284 OMIM:243000 OMIM:619184 ORPHA:3208 OMIM:269150 ORPHA:798 OMIM:615761 OMIM:164210 ORPHA:261222 ORPHA:48652 OMIM:606232 OMIM:619314 ORPHA:94065 OMIM:613406 OMIM:605192 OMIM:206900 OMIM:222470 OMIM:263800 ORPHA:447997 OMIM:618972 ORPHA:247585 OMIM:300896 OMIM:618868 OMIM:233100 OMIM:300243 ORPHA:284984 OMIM:613795 ORPHA:2588 OMIM:619293 ORPHA:2728 OMIM:603457 OMIM:619268 ORPHA:3063 OMIM:168601 OMIM:613674 ORPHA:77298 OMIM:114290 ORPHA:79124 ORPHA:101000 ORPHA:100985 OMIM:182601 OMIM:602099 OMIM:604360 OMIM:607259 ORPHA:99013 OMIM:618828 OMIM:619475 OMIM:617145 OMIM:136140 ORPHA:2044 ORPHA:753 OMIM:264600 ORPHA:1772 OMIM:400045 OMIM:300934 OMIM:614261 OMIM:201710 ORPHA:391487 OMIM:175200 OMIM:618093 ORPHA:17 ORPHA:88644 ORPHA:544254 OMIM:616897 ORPHA:496641 OMIM:617193 ORPHA:488632 OMIM:607136 ORPHA:1727 ORPHA:921 OMIM:302905 OMIM:619718 OMIM:613989 OMIM:113620 ORPHA:1328 ORPHA:363444 ORPHA:505216 OMIM:617698 OMIM:613990 OMIM:618688 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:606408 OMIM:615963 ORPHA:93357 OMIM:106260 OMIM:604292 ORPHA:1896 OMIM:129400 ORPHA:500144 OMIM:619428 ORPHA:476126 OMIM:606071 OMIM:618454 OMIM:615985 OMIM:105210 OMIM:221770 OMIM:301830 OMIM:618418 ORPHA:163956 OMIM:243800 ORPHA:2315 OMIM:619377 OMIM:613161 OMIM:300919 OMIM:600145 ORPHA:329478 OMIM:616683 ORPHA:466934 ORPHA:100989 OMIM:220210 OMIM:603563 OMIM:614091 OMIM:222300 OMIM:273395 OMIM:611812 ORPHA:139466 OMIM:276820 ORPHA:284282 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:100996 OMIM:270700 OMIM:618659 OMIM:275210 OMIM:619522 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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