Human Phenotype Ontology

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:0000795	HP:0000795	Abnormality of the urethra	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0000795	HP:0000795	Abnormality of the urethra	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000795	HP:0000795	Abnormality of the urethra	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0000795	Abnormality of the urethra	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0000795	HP:0000795	Abnormality of the urethra	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000795	HP:0000795	Abnormality of the urethra	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000795	HP:0000795	Abnormality of the urethra	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0000795	HP:0000795	Abnormality of the urethra	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0000795	HP:0000795	Abnormality of the urethra	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000795	HP:0000795	Abnormality of the urethra	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0000795	HP:0000795	Abnormality of the urethra	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000795	HP:0000795	Abnormality of the urethra	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000795	HP:0000795	Abnormality of the urethra	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000795	HP:0000795	Abnormality of the urethra	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000795	HP:0000795	Abnormality of the urethra	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000795	HP:0000795	Abnormality of the urethra	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000795	HP:0000795	Abnormality of the urethra	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000795	HP:0000795	Abnormality of the urethra	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000795	HP:0000795	Abnormality of the urethra	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0000795	HP:0000795	Abnormality of the urethra	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000795	HP:0000795	Abnormality of the urethra	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000795	HP:0000795	Abnormality of the urethra	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000795	HP:0000795	Abnormality of the urethra	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0000795	Abnormality of the urethra	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000795	HP:0000795	Abnormality of the urethra	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000795	HP:0000795	Abnormality of the urethra	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000795	HP:0000795	Abnormality of the urethra	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000795	HP:0000795	Abnormality of the urethra	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000795	HP:0000795	Abnormality of the urethra	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000795	HP:0000795	Abnormality of the urethra	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000795	HP:0000795	Abnormality of the urethra	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000795	HP:0000795	Abnormality of the urethra	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000795	HP:0000795	Abnormality of the urethra	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000795	HP:0000795	Abnormality of the urethra	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome		7
HP:0000795	HP:0000795	Abnormality of the urethra	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000795	HP:0000795	Abnormality of the urethra	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000795	HP:0000795	Abnormality of the urethra	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000795	HP:0000795	Abnormality of the urethra	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000795	HP:0000795	Abnormality of the urethra	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000795	HP:0000795	Abnormality of the urethra	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000795	HP:0000795	Abnormality of the urethra	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0000795	HP:0000795	Abnormality of the urethra	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000795	HP:0000795	Abnormality of the urethra	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000795	HP:0000795	Abnormality of the urethra	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0000795	HP:0000795	Abnormality of the urethra	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0000795	HP:0000795	Abnormality of the urethra	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0000795	HP:0000795	Abnormality of the urethra	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0000795	Abnormality of the urethra	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0000795	Abnormality of the urethra	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0000795	HP:0000795	Abnormality of the urethra	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000795	HP:0000795	Abnormality of the urethra	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000795	HP:0000795	Abnormality of the urethra	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000795	HP:0000795	Abnormality of the urethra	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000795	HP:0000795	Abnormality of the urethra	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000795	HP:0000795	Abnormality of the urethra	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000795	HP:0000795	Abnormality of the urethra	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000795	HP:0000795	Abnormality of the urethra	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000795	HP:0000795	Abnormality of the urethra	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000795	HP:0000795	Abnormality of the urethra	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000795	HP:0000795	Abnormality of the urethra	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000795	HP:0000795	Abnormality of the urethra	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000795	HP:0000795	Abnormality of the urethra	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0000795	HP:0000795	Abnormality of the urethra	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000795	HP:0000795	Abnormality of the urethra	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0000795	HP:0000795	Abnormality of the urethra	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000795	HP:0000795	Abnormality of the urethra	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0000795	HP:0000795	Abnormality of the urethra	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000795	HP:0000795	Abnormality of the urethra	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000795	HP:0000795	Abnormality of the urethra	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000795	HP:0000795	Abnormality of the urethra	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000795	HP:0000795	Abnormality of the urethra	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0000795	HP:0000795	Abnormality of the urethra	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0000795	HP:0000795	Abnormality of the urethra	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000795	HP:0000795	Abnormality of the urethra	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000795	HP:0000795	Abnormality of the urethra	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000795	HP:0000795	Abnormality of the urethra	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000795	HP:0000795	Abnormality of the urethra	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000795	HP:0000795	Abnormality of the urethra	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome		493
HP:0000795	HP:0000795	Abnormality of the urethra	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000795	HP:0000795	Abnormality of the urethra	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000795	HP:0000795	Abnormality of the urethra	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000795	HP:0000795	Abnormality of the urethra	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000795	HP:0000795	Abnormality of the urethra	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000795	HP:0000795	Abnormality of the urethra	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0000795	HP:0000795	Abnormality of the urethra	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000795	HP:0000795	Abnormality of the urethra	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000795	HP:0000795	Abnormality of the urethra	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000795	HP:0000795	Abnormality of the urethra	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000795	HP:0000795	Abnormality of the urethra	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000795	HP:0000795	Abnormality of the urethra	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000795	HP:0000795	Abnormality of the urethra	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000795	HP:0000795	Abnormality of the urethra	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0000795	HP:0000795	Abnormality of the urethra	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000795	HP:0000795	Abnormality of the urethra	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0000795	HP:0000795	Abnormality of the urethra	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000795	HP:0000795	Abnormality of the urethra	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0000795	HP:0000795	Abnormality of the urethra	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0000795	HP:0000795	Abnormality of the urethra	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000795	HP:0000795	Abnormality of the urethra	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000795	HP:0000795	Abnormality of the urethra	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000795	HP:0000795	Abnormality of the urethra	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000795	HP:0000795	Abnormality of the urethra	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000795	HP:0000795	Abnormality of the urethra	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000795	HP:0000795	Abnormality of the urethra	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000795	HP:0000795	Abnormality of the urethra	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000795	HP:0000795	Abnormality of the urethra	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000795	HP:0000795	Abnormality of the urethra	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000795	HP:0000795	Abnormality of the urethra	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000795	HP:0000795	Abnormality of the urethra	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0000795	HP:0000795	Abnormality of the urethra	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0000795	HP:0000795	Abnormality of the urethra	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000795	HP:0000795	Abnormality of the urethra	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0000795	Abnormality of the urethra	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0000795	HP:0000795	Abnormality of the urethra	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0000795	HP:0000795	Abnormality of the urethra	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	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:0000795	HP:0000795	Abnormality of the urethra	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0000795	HP:0000795	Abnormality of the urethra	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0000795	HP:0000795	Abnormality of the urethra	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000795	HP:0000795	Abnormality of the urethra	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000795	HP:0000795	Abnormality of the urethra	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000795	HP:0000795	Abnormality of the urethra	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0000795	HP:0000795	Abnormality of the urethra	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0000795	HP:0000795	Abnormality of the urethra	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000795	HP:0000795	Abnormality of the urethra	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000795	HP:0000795	Abnormality of the urethra	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000795	HP:0000795	Abnormality of the urethra	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000795	HP:0000795	Abnormality of the urethra	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000795	HP:0000795	Abnormality of the urethra	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000795	HP:0000795	Abnormality of the urethra	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000795	HP:0000795	Abnormality of the urethra	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000795	HP:0000795	Abnormality of the urethra	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000795	HP:0000795	Abnormality of the urethra	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000795	HP:0000795	Abnormality of the urethra	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000795	HP:0000795	Abnormality of the urethra	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0000795	HP:0000795	Abnormality of the urethra	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000795	HP:0000795	Abnormality of the urethra	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000795	HP:0000795	Abnormality of the urethra	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000795	HP:0000795	Abnormality of the urethra	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0000795	HP:0000795	Abnormality of the urethra	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000795	HP:0000795	Abnormality of the urethra	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000795	HP:0000795	Abnormality of the urethra	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000795	HP:0000795	Abnormality of the urethra	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000795	HP:0000795	Abnormality of the urethra	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000795	HP:0000795	Abnormality of the urethra	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0000795	HP:0000795	Abnormality of the urethra	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000795	HP:0000795	Abnormality of the urethra	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0000795	HP:0000795	Abnormality of the urethra	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000795	HP:0000795	Abnormality of the urethra	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000795	HP:0000795	Abnormality of the urethra	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000795	HP:0000795	Abnormality of the urethra	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000795	HP:0000795	Abnormality of the urethra	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000795	HP:0000795	Abnormality of the urethra	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000795	HP:0000795	Abnormality of the urethra	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0000795	Abnormality of the urethra	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0000795	HP:0000795	Abnormality of the urethra	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000795	HP:0000795	Abnormality of the urethra	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000795	HP:0000795	Abnormality of the urethra	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0000795	HP:0000795	Abnormality of the urethra	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0000795	HP:0000795	Abnormality of the urethra	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0000795	HP:0000795	Abnormality of the urethra	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0000795	HP:0000795	Abnormality of the urethra	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000795	HP:0000795	Abnormality of the urethra	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000795	HP:0000795	Abnormality of the urethra	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000795	HP:0000795	Abnormality of the urethra	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000795	HP:0000795	Abnormality of the urethra	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0000795	HP:0000795	Abnormality of the urethra	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0000795	HP:0000795	Abnormality of the urethra	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0000795	HP:0000795	Abnormality of the urethra	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000795	HP:0000795	Abnormality of the urethra	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000795	HP:0000795	Abnormality of the urethra	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000795	HP:0000795	Abnormality of the urethra	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000795	HP:0000795	Abnormality of the urethra	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000795	HP:0000795	Abnormality of the urethra	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000795	HP:0000795	Abnormality of the urethra	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000795	HP:0000795	Abnormality of the urethra	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000795	HP:0000795	Abnormality of the urethra	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000795	HP:0000795	Abnormality of the urethra	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000795	HP:0000795	Abnormality of the urethra	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000795	HP:0000795	Abnormality of the urethra	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000795	HP:0000795	Abnormality of the urethra	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000795	HP:0000795	Abnormality of the urethra	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0000795	HP:0000795	Abnormality of the urethra	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0000795	HP:0000795	Abnormality of the urethra	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000795	HP:0000795	Abnormality of the urethra	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000795	HP:0000795	Abnormality of the urethra	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0000795	HP:0000795	Abnormality of the urethra	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0000795	HP:0000795	Abnormality of the urethra	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000795	HP:0000795	Abnormality of the urethra	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000795	HP:0000795	Abnormality of the urethra	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000795	HP:0000795	Abnormality of the urethra	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000795	HP:0000795	Abnormality of the urethra	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000795	HP:0000795	Abnormality of the urethra	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000795	HP:0000795	Abnormality of the urethra	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000795	HP:0000795	Abnormality of the urethra	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0000795	HP:0000795	Abnormality of the urethra	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000795	HP:0000795	Abnormality of the urethra	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000795	HP:0000795	Abnormality of the urethra	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000795	HP:0000795	Abnormality of the urethra	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000795	HP:0000795	Abnormality of the urethra	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000795	HP:0000795	Abnormality of the urethra	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000795	HP:0000795	Abnormality of the urethra	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0000795	HP:0000795	Abnormality of the urethra	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000795	HP:0000795	Abnormality of the urethra	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000795	HP:0000795	Abnormality of the urethra	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000795	HP:0000795	Abnormality of the urethra	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000795	HP:0000795	Abnormality of the urethra	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000795	HP:0000795	Abnormality of the urethra	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0000795	HP:0000795	Abnormality of the urethra	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000795	HP:0000795	Abnormality of the urethra	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000795	HP:0000795	Abnormality of the urethra	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000795	HP:0000795	Abnormality of the urethra	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000795	HP:0000795	Abnormality of the urethra	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000795	HP:0000795	Abnormality of the urethra	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000795	HP:0000795	Abnormality of the urethra	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000795	HP:0000795	Abnormality of the urethra	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000795	HP:0000795	Abnormality of the urethra	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0000795	HP:0000795	Abnormality of the urethra	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0000795	Abnormality of the urethra	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000795	HP:0000795	Abnormality of the urethra	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0000795	HP:0000795	Abnormality of the urethra	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000795	HP:0000795	Abnormality of the urethra	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000795	HP:0000795	Abnormality of the urethra	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000795	HP:0000795	Abnormality of the urethra	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000795	HP:0000795	Abnormality of the urethra	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000795	HP:0000795	Abnormality of the urethra	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000795	HP:0000795	Abnormality of the urethra	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000795	HP:0000795	Abnormality of the urethra	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000795	HP:0000795	Abnormality of the urethra	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000795	HP:0000795	Abnormality of the urethra	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0000795	HP:0000795	Abnormality of the urethra	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000795	HP:0000795	Abnormality of the urethra	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000795	HP:0000795	Abnormality of the urethra	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000795	HP:0000795	Abnormality of the urethra	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000795	HP:0000795	Abnormality of the urethra	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0000795	HP:0000795	Abnormality of the urethra	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000795	HP:0000795	Abnormality of the urethra	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0000795	Abnormality of the urethra	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:0000795	HP:0000795	Abnormality of the urethra	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0000795	HP:0000795	Abnormality of the urethra	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000795	HP:0000795	Abnormality of the urethra	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0000795	HP:0000795	Abnormality of the urethra	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000795	HP:0000795	Abnormality of the urethra	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000795	HP:0000795	Abnormality of the urethra	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000795	HP:0000795	Abnormality of the urethra	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000795	HP:0000795	Abnormality of the urethra	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000795	HP:0000795	Abnormality of the urethra	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000795	HP:0000795	Abnormality of the urethra	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0000795	HP:0000795	Abnormality of the urethra	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0000795	HP:0000795	Abnormality of the urethra	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000795	HP:0000795	Abnormality of the urethra	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000795	HP:0000795	Abnormality of the urethra	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0000795	HP:0000795	Abnormality of the urethra	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0000795	HP:0000795	Abnormality of the urethra	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000795	HP:0000795	Abnormality of the urethra	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000795	HP:0000795	Abnormality of the urethra	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0000795	HP:0000795	Abnormality of the urethra	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000795	HP:0000795	Abnormality of the urethra	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000795	HP:0000795	Abnormality of the urethra	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000795	HP:0000795	Abnormality of the urethra	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0000795	HP:0000795	Abnormality of the urethra	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000795	HP:0000795	Abnormality of the urethra	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000795	HP:0000795	Abnormality of the urethra	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0000795	HP:0000795	Abnormality of the urethra	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000795	HP:0000795	Abnormality of the urethra	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000795	HP:0000795	Abnormality of the urethra	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000795	HP:0000795	Abnormality of the urethra	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000795	HP:0000795	Abnormality of the urethra	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000795	HP:0000795	Abnormality of the urethra	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000795	HP:0000795	Abnormality of the urethra	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0000795	HP:0000795	Abnormality of the urethra	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0000795	HP:0000795	Abnormality of the urethra	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000795	HP:0000795	Abnormality of the urethra	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0000795	HP:0000795	Abnormality of the urethra	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000795	HP:0000795	Abnormality of the urethra	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0000795	HP:0000795	Abnormality of the urethra	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0000795	HP:0000795	Abnormality of the urethra	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0000795	HP:0000795	Abnormality of the urethra	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0000795	HP:0000795	Abnormality of the urethra	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000795	HP:0000795	Abnormality of the urethra	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0000795	HP:0000795	Abnormality of the urethra	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0000795	Abnormality of the urethra	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000795	HP:0025417	Patulous urethra	1	CL E G H
HP:0000795	HP:0500006	Urethritis	1	CL E G H
HP:0000795	HP:0100821	Urethrocele	1	CL E G H
HP:0000795	HP:0030723	Congenital megalourethra	1	CL E G H
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0100627	Displacement of the urethral meatus	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0000795	HP:0008722	Urethral diverticulum	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	125
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040281 - Very frequent	125
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000795	HP:0000068	Urethral atresia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0000795	HP:0000068	Urethral atresia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0000795	HP:0000796	Urethral obstruction	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000795	HP:0000796	Urethral obstruction	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000795	HP:0000796	Urethral obstruction	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0000796	Urethral obstruction	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000795	HP:0000796	Urethral obstruction	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000795	HP:0000068	Urethral atresia	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000795	HP:0000796	Urethral obstruction	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000795	HP:0000068	Urethral atresia	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0000795	HP:0000796	Urethral obstruction	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000795	HP:0000796	Urethral obstruction	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000795	HP:0000796	Urethral obstruction	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040283 - Occasional	7
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000795	HP:0000796	Urethral obstruction	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000795	HP:0000796	Urethral obstruction	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0000795	HP:0000068	Urethral atresia	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000796	Urethral obstruction	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0100627	Displacement of the urethral meatus	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	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:0000795	HP:0100627	Displacement of the urethral meatus	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0100627	Displacement of the urethral meatus	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		86
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000795	HP:0000796	Urethral obstruction	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0000795	HP:0000796	Urethral obstruction	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0000795	HP:0000796	Urethral obstruction	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0000795	HP:0000796	Urethral obstruction	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000795	HP:0010480	Urethral fistula	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0000795	HP:0010480	Urethral fistula	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000795	HP:0010480	Urethral fistula	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000795	HP:0008722	Urethral diverticulum	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000795	HP:0000796	Urethral obstruction	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000795	HP:0000796	Urethral obstruction	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000795	HP:0000796	Urethral obstruction	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000795	HP:0000068	Urethral atresia	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000795	HP:0008722	Urethral diverticulum	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000795	HP:0100517	Neoplasm of the urethra	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0000795	HP:0000796	Urethral obstruction	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000795	HP:0000796	Urethral obstruction	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000795	HP:0000796	Urethral obstruction	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040283 - Occasional	493
HP:0000795	HP:0000796	Urethral obstruction	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000795	HP:0000796	Urethral obstruction	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000795	HP:0000068	Urethral atresia	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000795	HP:0000068	Urethral atresia	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000795	HP:0008706	Distal urethral duplication	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000795	HP:0000068	Urethral atresia	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000795	HP:0000796	Urethral obstruction	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000795	HP:0000796	Urethral obstruction	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000795	HP:0000796	Urethral obstruction	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000795	HP:0000796	Urethral obstruction	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0000795	HP:0000796	Urethral obstruction	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0000795	HP:0010480	Urethral fistula	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000795	HP:0000796	Urethral obstruction	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0000795	HP:0000796	Urethral obstruction	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000795	HP:0000796	Urethral obstruction	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000795	HP:0000796	Urethral obstruction	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000795	HP:0000796	Urethral obstruction	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0000795	HP:0000796	Urethral obstruction	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000795	HP:0000796	Urethral obstruction	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000795	HP:0000796	Urethral obstruction	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000795	HP:0000796	Urethral obstruction	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000795	HP:0000796	Urethral obstruction	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000795	HP:0008722	Urethral diverticulum	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0000795	HP:0008722	Urethral diverticulum	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040281 - Very frequent	5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0000795	HP:0000796	Urethral obstruction	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000795	HP:0000796	Urethral obstruction	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000795	HP:0000796	Urethral obstruction	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0010480	Urethral fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000795	HP:0000796	Urethral obstruction	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0000795	HP:0000068	Urethral atresia	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0000795	HP:0000796	Urethral obstruction	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000795	HP:0000796	Urethral obstruction	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0000795	HP:0000796	Urethral obstruction	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0000795	HP:0000796	Urethral obstruction	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0000795	HP:0000796	Urethral obstruction	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development		38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000795	HP:0000796	Urethral obstruction	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000795	HP:0000796	Urethral obstruction	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	194
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000795	HP:0000796	Urethral obstruction	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000795	HP:0008722	Urethral diverticulum	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0000795	HP:0000796	Urethral obstruction	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000795	HP:0000796	Urethral obstruction	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0000795	HP:0000796	Urethral obstruction	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		1129
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000795	HP:0000796	Urethral obstruction	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000795	HP:0000796	Urethral obstruction	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000795	HP:0000068	Urethral atresia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0000795	HP:0000068	Urethral atresia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0000796	Urethral obstruction	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000795	HP:0000796	Urethral obstruction	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000795	HP:0000796	Urethral obstruction	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0100627	Displacement of the urethral meatus	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000795	HP:0000796	Urethral obstruction	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development		109
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000795	HP:0000796	Urethral obstruction	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0000796	Urethral obstruction	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0100627	Displacement of the urethral meatus	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:0000795	HP:0100779	Urogenital sinus anomaly	1	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:0000795	HP:0100627	Displacement of the urethral meatus	1	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development		23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0000795	HP:0000796	Urethral obstruction	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000795	HP:0000796	Urethral obstruction	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000795	HP:0000796	Urethral obstruction	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked		28
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000795	HP:0000068	Urethral atresia	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000795	HP:0000068	Urethral atresia	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0000795	HP:0000068	Urethral atresia	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0000795	HP:0000796	Urethral obstruction	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0000795	HP:0000796	Urethral obstruction	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0000795	HP:0000796	Urethral obstruction	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0000795	HP:0000796	Urethral obstruction	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0000795	HP:0000796	Urethral obstruction	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000795	HP:0000068	Urethral atresia	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0000795	HP:0000068	Urethral atresia	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000795	HP:0000068	Urethral atresia	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0000795	HP:0000068	Urethral atresia	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0000795	HP:0000796	Urethral obstruction	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000795	HP:0000068	Urethral atresia	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		63
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0000795	HP:0000796	Urethral obstruction	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000795	HP:0000068	Urethral atresia	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0000795	HP:0000068	Urethral atresia	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0000795	HP:0000796	Urethral obstruction	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0000795	HP:0010480	Urethral fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0000795	HP:0000796	Urethral obstruction	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000795	HP:0000796	Urethral obstruction	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0000795	HP:0010480	Urethral fistula	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0000795	HP:0000068	Urethral atresia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome		4
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0000795	HP:0000796	Urethral obstruction	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	177
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0000795	HP:0100779	Urogenital sinus anomaly	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000795	HP:0000068	Urethral atresia	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000795	HP:0000796	Urethral obstruction	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0100627	Displacement of the urethral meatus	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000795	HP:0008648	Anteriorly displaced urethral meatus	2	CL E G H
HP:0000795	HP:0000067	Urethral atresia, female	2	CL E G H
HP:0000795	HP:0000052	Urethral atresia, male	2	CL E G H
HP:0000795	HP:0000047	Hypospadias	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000795	HP:0000047	Hypospadias	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0000795	HP:0000047	Hypospadias	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000795	HP:0000047	Hypospadias	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0000795	HP:0000047	Hypospadias	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0000795	HP:0000039	Epispadias	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000795	HP:0000047	Hypospadias	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000795	HP:0034378	Urethrovesical occlusion	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000795	HP:0010481	Urethral valve	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000795	HP:0000047	Hypospadias	2	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked		125
HP:0000795	HP:0000047	Hypospadias	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0000795	HP:0000047	Hypospadias	2	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000795	HP:0000047	Hypospadias	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0000795	HP:0000047	Hypospadias	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0000795	HP:0000047	Hypospadias	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0000795	HP:0000047	Hypospadias	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000795	HP:0000047	Hypospadias	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0000795	HP:0000047	Hypospadias	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0000795	HP:0000047	Hypospadias	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000795	HP:0000047	Hypospadias	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0000795	HP:0000047	Hypospadias	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000795	HP:0000047	Hypospadias	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000795	HP:0000047	Hypospadias	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000795	HP:0000047	Hypospadias	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0000795	HP:0000047	Hypospadias	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000795	HP:0000047	Hypospadias	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0000795	HP:0008661	Urethral stenosis	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0008661	Urethral stenosis	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000795	HP:0000047	Hypospadias	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000795	HP:0000047	Hypospadias	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0000795	HP:0000047	Hypospadias	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000795	HP:0008661	Urethral stenosis	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0010481	Urethral valve	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0034378	Urethrovesical occlusion	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0034378	Urethrovesical occlusion	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000795	HP:0010481	Urethral valve	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000795	HP:0008661	Urethral stenosis	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0000795	HP:0000047	Hypospadias	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000795	HP:0000047	Hypospadias	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0000795	HP:0000047	Hypospadias	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000795	HP:0000047	Hypospadias	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000795	HP:0000047	Hypospadias	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000795	HP:0000047	Hypospadias	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000795	HP:0000047	Hypospadias	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000795	HP:0008661	Urethral stenosis	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000039	Epispadias	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000795	HP:0000039	Epispadias	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000795	HP:0000047	Hypospadias	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000795	HP:0000047	Hypospadias	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000795	HP:0000047	Hypospadias	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	5
HP:0000795	HP:0000047	Hypospadias	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000795	HP:0000047	Hypospadias	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000795	HP:0000047	Hypospadias	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000795	HP:0000047	Hypospadias	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0000795	HP:0000039	Epispadias	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0000795	HP:0008661	Urethral stenosis	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000795	HP:0000047	Hypospadias	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000795	HP:0000039	Epispadias	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0000795	HP:0000047	Hypospadias	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0000795	HP:0000047	Hypospadias	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000795	HP:0000047	Hypospadias	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000795	HP:0000047	Hypospadias	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000795	HP:0000047	Hypospadias	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000795	HP:0000047	Hypospadias	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0000795	HP:0000047	Hypospadias	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0000795	HP:0000047	Hypospadias	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0000795	HP:0000047	Hypospadias	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0000795	HP:0000039	Epispadias	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0000795	HP:0010481	Urethral valve	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000795	HP:0034378	Urethrovesical occlusion	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000795	HP:0034378	Urethrovesical occlusion	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000795	HP:0010481	Urethral valve	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000795	HP:0000047	Hypospadias	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000795	HP:0000047	Hypospadias	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000795	HP:0000047	Hypospadias	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000795	HP:0008661	Urethral stenosis	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000795	HP:0000047	Hypospadias	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000795	HP:0008661	Urethral stenosis	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000795	HP:0008661	Urethral stenosis	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000795	HP:0000047	Hypospadias	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000795	HP:0000047	Hypospadias	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional	9
HP:0000795	HP:0000047	Hypospadias	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000795	HP:0000039	Epispadias	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000795	HP:0000047	Hypospadias	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000795	HP:0000047	Hypospadias	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000795	HP:0000047	Hypospadias	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000795	HP:0000047	Hypospadias	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000795	HP:0000047	Hypospadias	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000795	HP:0000047	Hypospadias	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000795	HP:0000047	Hypospadias	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000795	HP:0000047	Hypospadias	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000795	HP:0000047	Hypospadias	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000047	Hypospadias	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000795	HP:0008661	Urethral stenosis	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0000795	HP:0000047	Hypospadias	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0000795	HP:0000047	Hypospadias	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000795	HP:0000047	Hypospadias	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	127
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0000795	HP:0000047	Hypospadias	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0000795	HP:0000047	Hypospadias	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000795	HP:0000047	Hypospadias	2	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0000795	HP:0010481	Urethral valve	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000795	HP:0000047	Hypospadias	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000795	HP:0000047	Hypospadias	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000795	HP:0000047	Hypospadias	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000795	HP:0000047	Hypospadias	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000795	HP:0000047	Hypospadias	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0000047	Hypospadias	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000795	HP:0000047	Hypospadias	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000795	HP:0008661	Urethral stenosis	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0000795	HP:0000047	Hypospadias	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000795	HP:0008661	Urethral stenosis	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000795	HP:0000047	Hypospadias	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000795	HP:0000047	Hypospadias	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000795	HP:0000047	Hypospadias	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0000795	HP:0000047	Hypospadias	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0000795	HP:0008661	Urethral stenosis	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000039	Epispadias	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000795	HP:0000047	Hypospadias	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000795	HP:0000039	Epispadias	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000795	HP:0000047	Hypospadias	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000795	HP:0008716	Urethrovaginal fistula	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0000795	HP:0008716	Urethrovaginal fistula	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000795	HP:0008716	Urethrovaginal fistula	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000795	HP:0000047	Hypospadias	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0000795	HP:0000039	Epispadias	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0000795	HP:0000047	Hypospadias	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional	27
HP:0000795	HP:0000047	Hypospadias	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000795	HP:0000047	Hypospadias	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000795	HP:0008661	Urethral stenosis	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0008661	Urethral stenosis	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000795	HP:0008661	Urethral stenosis	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000795	HP:0000047	Hypospadias	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000795	HP:0000047	Hypospadias	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000795	HP:0000047	Hypospadias	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000795	HP:0000047	Hypospadias	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000795	HP:0000047	Hypospadias	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0000795	HP:0000047	Hypospadias	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0000795	HP:0000047	Hypospadias	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000795	HP:0000039	Epispadias	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0000795	HP:0000047	Hypospadias	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0000795	HP:0000039	Epispadias	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000795	HP:0000047	Hypospadias	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000795	HP:0000047	Hypospadias	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0000795	HP:0000039	Epispadias	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0000795	HP:0000039	Epispadias	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000795	HP:0000047	Hypospadias	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000795	HP:0000047	Hypospadias	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000795	HP:0000047	Hypospadias	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000795	HP:0000047	Hypospadias	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000795	HP:0000047	Hypospadias	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000795	HP:0000047	Hypospadias	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000795	HP:0000047	Hypospadias	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000795	HP:0000047	Hypospadias	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000795	HP:0000047	Hypospadias	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000795	HP:0000047	Hypospadias	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000795	HP:0000047	Hypospadias	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000795	HP:0000047	Hypospadias	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000795	HP:0000047	Hypospadias	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000795	HP:0000047	Hypospadias	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000795	HP:0000047	Hypospadias	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000795	HP:0008661	Urethral stenosis	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000795	HP:0008661	Urethral stenosis	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000795	HP:0000047	Hypospadias	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000795	HP:0000047	Hypospadias	2	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000795	HP:0000047	Hypospadias	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000795	HP:0000047	Hypospadias	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000795	HP:0000047	Hypospadias	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000795	HP:0000047	Hypospadias	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000795	HP:0000047	Hypospadias	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000795	HP:0000047	Hypospadias	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000795	HP:0008661	Urethral stenosis	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0008661	Urethral stenosis	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000795	HP:0000047	Hypospadias	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0000795	HP:0000047	Hypospadias	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000795	HP:0008661	Urethral stenosis	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000795	HP:0000047	Hypospadias	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000795	HP:0000047	Hypospadias	2	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0000795	HP:0000047	Hypospadias	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000795	HP:0000047	Hypospadias	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000795	HP:0000047	Hypospadias	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000795	HP:0000047	Hypospadias	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000795	HP:0000039	Epispadias	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0000795	HP:0000047	Hypospadias	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000795	HP:0000047	Hypospadias	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0000795	HP:0000047	Hypospadias	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000795	HP:0000047	Hypospadias	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0000795	HP:0000047	Hypospadias	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0000795	HP:0000039	Epispadias	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0000795	HP:0000047	Hypospadias	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000795	HP:0000047	Hypospadias	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000795	HP:0000047	Hypospadias	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000795	HP:0000047	Hypospadias	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040284 - Very rare	270
HP:0000795	HP:0000039	Epispadias	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000795	HP:0000047	Hypospadias	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0000795	HP:0000047	Hypospadias	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000795	HP:0000047	Hypospadias	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000795	HP:0000047	Hypospadias	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000795	HP:0008661	Urethral stenosis	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0008661	Urethral stenosis	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0008661	Urethral stenosis	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0034378	Urethrovesical occlusion	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000795	HP:0000047	Hypospadias	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000795	HP:0010481	Urethral valve	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000795	HP:0000047	Hypospadias	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000795	HP:0000047	Hypospadias	2	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0000795	HP:0000047	Hypospadias	2	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0000795	HP:0000039	Epispadias	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000795	HP:0000047	Hypospadias	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000795	HP:0000047	Hypospadias	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000795	HP:0000047	Hypospadias	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000795	HP:0000047	Hypospadias	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000795	HP:0000047	Hypospadias	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0000795	HP:0000047	Hypospadias	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0000795	HP:0000047	Hypospadias	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0000795	HP:0010481	Urethral valve	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0000047	Hypospadias	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0034378	Urethrovesical occlusion	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0000047	Hypospadias	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0000795	HP:0000047	Hypospadias	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000795	HP:0000047	Hypospadias	2	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias		11
HP:0000795	HP:0000047	Hypospadias	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0000795	HP:0010481	Urethral valve	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000795	HP:0000047	Hypospadias	2	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0000795	HP:0000047	Hypospadias	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0000795	HP:0000047	Hypospadias	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000795	HP:0000047	Hypospadias	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000795	HP:0000047	Hypospadias	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0000795	HP:0008716	Urethrovaginal fistula	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0000795	HP:0000047	Hypospadias	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	HP:0040283 - Occasional	9
HP:0000795	HP:0000047	Hypospadias	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000795	HP:0010481	Urethral valve	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000795	HP:0034378	Urethrovesical occlusion	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000795	HP:0000047	Hypospadias	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0000795	HP:0000039	Epispadias	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0000795	HP:0008661	Urethral stenosis	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000795	HP:0008661	Urethral stenosis	2	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000795	HP:0034378	Urethrovesical occlusion	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000795	HP:0008661	Urethral stenosis	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000795	HP:0000047	Hypospadias	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000795	HP:0000047	Hypospadias	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000795	HP:0000047	Hypospadias	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000795	HP:0000047	Hypospadias	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000795	HP:0000047	Hypospadias	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000795	HP:0000047	Hypospadias	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000795	HP:0000047	Hypospadias	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000795	HP:0000047	Hypospadias	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000795	HP:0000047	Hypospadias	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000795	HP:0000047	Hypospadias	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000795	HP:0000047	Hypospadias	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000795	HP:0000047	Hypospadias	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000795	HP:0000047	Hypospadias	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0000795	HP:0000047	Hypospadias	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0000795	HP:0000047	Hypospadias	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0000795	HP:0000047	Hypospadias	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000795	HP:0000047	Hypospadias	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0000795	HP:0000039	Epispadias	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0000795	HP:0008661	Urethral stenosis	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000795	HP:0008661	Urethral stenosis	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000795	HP:0008661	Urethral stenosis	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000795	HP:0000047	Hypospadias	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000795	HP:0000047	Hypospadias	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000795	HP:0000047	Hypospadias	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000795	HP:0000047	Hypospadias	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000795	HP:0008661	Urethral stenosis	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0000795	HP:0000047	Hypospadias	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0000795	HP:0000047	Hypospadias	2	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000795	HP:0000047	Hypospadias	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional	5
HP:0000795	HP:0000047	Hypospadias	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked		5
HP:0000795	HP:0000047	Hypospadias	2	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0000795	HP:0000047	Hypospadias	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000795	HP:0000047	Hypospadias	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000795	HP:0000047	Hypospadias	2	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0000795	HP:0008661	Urethral stenosis	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000795	HP:0000047	Hypospadias	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0000795	HP:0000047	Hypospadias	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000795	HP:0000047	Hypospadias	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000795	HP:0000047	Hypospadias	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000795	HP:0000047	Hypospadias	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0000795	HP:0000047	Hypospadias	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000795	HP:0000047	Hypospadias	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000795	HP:0000047	Hypospadias	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000795	HP:0000047	Hypospadias	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0000795	HP:0000047	Hypospadias	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0000795	HP:0000047	Hypospadias	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000795	HP:0008661	Urethral stenosis	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0000795	HP:0025407	Rectourethral fistula	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0034378	Urethrovesical occlusion	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0010481	Urethral valve	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0000047	Hypospadias	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0000795	HP:0000047	Hypospadias	2	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.	69
HP:0000795	HP:0008661	Urethral stenosis	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000795	HP:0000047	Hypospadias	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000795	HP:0008661	Urethral stenosis	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0008661	Urethral stenosis	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000795	HP:0008661	Urethral stenosis	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000795	HP:0000047	Hypospadias	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0000795	HP:0000047	Hypospadias	2	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		185
HP:0000795	HP:0000047	Hypospadias	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0000795	HP:0000047	Hypospadias	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0000795	HP:0000047	Hypospadias	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000795	HP:0000047	Hypospadias	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000795	HP:0000047	Hypospadias	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000795	HP:0000047	Hypospadias	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000795	HP:0008661	Urethral stenosis	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000795	HP:0000047	Hypospadias	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0000795	HP:0000047	Hypospadias	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000795	HP:0000039	Epispadias	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000795	HP:0000047	Hypospadias	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0000795	HP:0000047	Hypospadias	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000795	HP:0000047	Hypospadias	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0000795	HP:0000047	Hypospadias	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0000795	HP:0000047	Hypospadias	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000795	HP:0008661	Urethral stenosis	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0000795	HP:0000047	Hypospadias	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000795	HP:0000047	Hypospadias	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000795	HP:0000047	Hypospadias	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000795	HP:0008661	Urethral stenosis	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0000795	HP:0000047	Hypospadias	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0000047	Hypospadias	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000795	HP:0008661	Urethral stenosis	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0000795	HP:0000047	Hypospadias	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000795	HP:0000047	Hypospadias	2	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0000795	HP:0000047	Hypospadias	2	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0000795	HP:0000047	Hypospadias	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000795	HP:0000047	Hypospadias	2	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000795	HP:0000047	Hypospadias	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000795	HP:0010481	Urethral valve	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000795	HP:0034378	Urethrovesical occlusion	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000795	HP:0000047	Hypospadias	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000795	HP:0000047	Hypospadias	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000795	HP:0000047	Hypospadias	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000795	HP:0000047	Hypospadias	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040283 - Occasional	143
HP:0000795	HP:0000047	Hypospadias	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0000795	HP:0000047	Hypospadias	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0000795	HP:0000039	Epispadias	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0000795	HP:0000047	Hypospadias	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0000795	HP:0000039	Epispadias	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0000795	HP:0000039	Epispadias	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0000795	HP:0000047	Hypospadias	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0000795	HP:0000047	Hypospadias	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000795	HP:0000047	Hypospadias	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000795	HP:0000047	Hypospadias	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000795	HP:0000047	Hypospadias	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000795	HP:0008661	Urethral stenosis	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0000795	HP:0000047	Hypospadias	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	194
HP:0000795	HP:0000047	Hypospadias	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000795	HP:0000047	Hypospadias	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000795	HP:0000047	Hypospadias	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0000795	HP:0000047	Hypospadias	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000795	HP:0000047	Hypospadias	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000795	HP:0000047	Hypospadias	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0000795	HP:0000047	Hypospadias	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0000795	HP:0000047	Hypospadias	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0000795	HP:0000047	Hypospadias	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0000795	HP:0000047	Hypospadias	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0000795	HP:0000047	Hypospadias	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0000795	HP:0000047	Hypospadias	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0000795	HP:0000047	Hypospadias	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0000795	HP:0000047	Hypospadias	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0000795	HP:0000047	Hypospadias	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0000795	HP:0000047	Hypospadias	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0000795	HP:0000047	Hypospadias	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0000795	HP:0000047	Hypospadias	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0000795	HP:0000047	Hypospadias	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000795	HP:0000047	Hypospadias	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000795	HP:0000039	Epispadias	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000795	HP:0000047	Hypospadias	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000795	HP:0000047	Hypospadias	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0000795	HP:0000047	Hypospadias	2	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0000795	HP:0000047	Hypospadias	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000795	HP:0008661	Urethral stenosis	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000795	HP:0000047	Hypospadias	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0000795	HP:0008661	Urethral stenosis	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000795	HP:0034378	Urethrovesical occlusion	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000795	HP:0008661	Urethral stenosis	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000795	HP:0000047	Hypospadias	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0000795	HP:0000047	Hypospadias	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0000795	HP:0000047	Hypospadias	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0000795	HP:0000047	Hypospadias	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0000047	Hypospadias	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000795	HP:0000047	Hypospadias	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000795	HP:0000047	Hypospadias	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000795	HP:0000047	Hypospadias	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000795	HP:0000047	Hypospadias	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000795	HP:0000047	Hypospadias	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000795	HP:0000039	Epispadias	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000795	HP:0000047	Hypospadias	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000795	HP:0000039	Epispadias	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000795	HP:0000047	Hypospadias	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0000795	HP:0000047	Hypospadias	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000795	HP:0000047	Hypospadias	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000795	HP:0000047	Hypospadias	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional	54
HP:0000795	HP:0000047	Hypospadias	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0000795	HP:0000047	Hypospadias	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000795	HP:0000039	Epispadias	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0000795	HP:0000047	Hypospadias	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000795	HP:0000047	Hypospadias	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000795	HP:0000047	Hypospadias	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0000795	HP:0000047	Hypospadias	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000795	HP:0000047	Hypospadias	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000795	HP:0000047	Hypospadias	2	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:0000795	HP:0000047	Hypospadias	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000795	HP:0000047	Hypospadias	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000795	HP:0000047	Hypospadias	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000795	HP:0000047	Hypospadias	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0000795	HP:0000047	Hypospadias	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000795	HP:0000047	Hypospadias	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000795	HP:0000047	Hypospadias	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000795	HP:0000047	Hypospadias	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000795	HP:0008661	Urethral stenosis	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000795	HP:0008661	Urethral stenosis	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0000795	HP:0000047	Hypospadias	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000795	HP:0000047	Hypospadias	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000795	HP:0000047	Hypospadias	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000795	HP:0000047	Hypospadias	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0000795	HP:0000047	Hypospadias	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000795	HP:0000047	Hypospadias	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0000795	HP:0000047	Hypospadias	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0000795	HP:0000047	Hypospadias	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0000795	HP:0000047	Hypospadias	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0000795	HP:0000047	Hypospadias	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0000795	HP:0000047	Hypospadias	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0000795	HP:0000047	Hypospadias	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000795	HP:0000047	Hypospadias	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000795	HP:0000047	Hypospadias	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000795	HP:0000047	Hypospadias	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000795	HP:0000047	Hypospadias	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	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:0000795	HP:0008661	Urethral stenosis	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0000795	HP:0000047	Hypospadias	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000795	HP:0000047	Hypospadias	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000795	HP:0010481	Urethral valve	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000795	HP:0010481	Urethral valve	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000795	HP:0000047	Hypospadias	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000795	HP:0000047	Hypospadias	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0000795	HP:0000047	Hypospadias	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:0000795	HP:0000047	Hypospadias	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000795	HP:0000047	Hypospadias	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000795	HP:0034378	Urethrovesical occlusion	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000795	HP:0000047	Hypospadias	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000795	HP:0010481	Urethral valve	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000795	HP:0000047	Hypospadias	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000795	HP:0000047	Hypospadias	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000795	HP:0000047	Hypospadias	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000795	HP:0000047	Hypospadias	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000795	HP:0000047	Hypospadias	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0000795	HP:0000047	Hypospadias	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000795	HP:0000047	Hypospadias	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000795	HP:0000047	Hypospadias	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000795	HP:0000047	Hypospadias	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000795	HP:0000047	Hypospadias	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000795	HP:0000039	Epispadias	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000795	HP:0000047	Hypospadias	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000795	HP:0000047	Hypospadias	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0000795	HP:0000047	Hypospadias	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0000795	HP:0000047	Hypospadias	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0000795	HP:0000047	Hypospadias	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000795	HP:0000047	Hypospadias	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000795	HP:0000047	Hypospadias	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0000795	HP:0000047	Hypospadias	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000795	HP:0000047	Hypospadias	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000795	HP:0000047	Hypospadias	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0000795	HP:0000047	Hypospadias	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0000795	HP:0000047	Hypospadias	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0000795	HP:0000047	Hypospadias	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0000795	HP:0000047	Hypospadias	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000795	HP:0000047	Hypospadias	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0000795	HP:0000047	Hypospadias	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000795	HP:0000047	Hypospadias	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000795	HP:0000047	Hypospadias	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0000047	Hypospadias	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0034378	Urethrovesical occlusion	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0010481	Urethral valve	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0034378	Urethrovesical occlusion	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000795	HP:0010481	Urethral valve	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000795	HP:0000047	Hypospadias	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:0000795	HP:0000047	Hypospadias	2	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias		86
HP:0000795	HP:0000039	Epispadias	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000795	HP:0000047	Hypospadias	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000795	HP:0000047	Hypospadias	2	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0000795	HP:0000047	Hypospadias	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000795	HP:0000047	Hypospadias	2	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000795	HP:0000047	Hypospadias	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.	12
HP:0000795	HP:0000047	Hypospadias	2	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45
HP:0000795	HP:0008661	Urethral stenosis	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0000795	HP:0000047	Hypospadias	2	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000795	HP:0000047	Hypospadias	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000795	HP:0008661	Urethral stenosis	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000795	HP:0008661	Urethral stenosis	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000795	HP:0000047	Hypospadias	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0000795	HP:0000047	Hypospadias	2	TBX22 CL E G H	50945	11600	OMIM:302905	Charge-Like syndrome, X-linked	.	28
HP:0000795	HP:0000047	Hypospadias	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000795	HP:0008661	Urethral stenosis	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0000795	HP:0008661	Urethral stenosis	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0000795	HP:0008661	Urethral stenosis	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000795	HP:0000047	Hypospadias	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000795	HP:0000047	Hypospadias	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000795	HP:0008661	Urethral stenosis	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0000795	HP:0008661	Urethral stenosis	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000795	HP:0008661	Urethral stenosis	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000795	HP:0000047	Hypospadias	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000795	HP:0000047	Hypospadias	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0000795	HP:0000047	Hypospadias	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000795	HP:0000047	Hypospadias	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000795	HP:0000039	Epispadias	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0000795	HP:0008661	Urethral stenosis	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000795	HP:0000047	Hypospadias	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000795	HP:0000047	Hypospadias	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000795	HP:0000047	Hypospadias	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000795	HP:0000047	Hypospadias	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000795	HP:0000047	Hypospadias	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.	41
HP:0000795	HP:0000047	Hypospadias	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0000795	HP:0008661	Urethral stenosis	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0000795	HP:0000047	Hypospadias	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0000795	HP:0000047	Hypospadias	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0000795	HP:0000047	Hypospadias	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000795	HP:0000047	Hypospadias	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000795	HP:0008716	Urethrovaginal fistula	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000795	HP:0000047	Hypospadias	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0000795	HP:0000047	Hypospadias	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000795	HP:0008661	Urethral stenosis	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0000795	HP:0000047	Hypospadias	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000795	HP:0000047	Hypospadias	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000795	HP:0000047	Hypospadias	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000795	HP:0008661	Urethral stenosis	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000047	Hypospadias	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000795	HP:0000047	Hypospadias	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000795	HP:0008716	Urethrovaginal fistula	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0000795	HP:0000047	Hypospadias	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000795	HP:0000047	Hypospadias	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0000795	HP:0000047	Hypospadias	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0000795	HP:0000047	Hypospadias	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000795	HP:0000039	Epispadias	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000795	HP:0000047	Hypospadias	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0000795	HP:0008661	Urethral stenosis	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0000795	HP:0000047	Hypospadias	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000795	HP:0000047	Hypospadias	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	177
HP:0000795	HP:0000047	Hypospadias	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000795	HP:0000047	Hypospadias	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000795	HP:0000047	Hypospadias	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000795	HP:0000047	Hypospadias	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000795	HP:0000047	Hypospadias	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000795	HP:0000047	Hypospadias	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000795	HP:0000047	Hypospadias	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000795	HP:0000047	Hypospadias	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0000795	HP:0000047	Hypospadias	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000795	HP:0000047	Hypospadias	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0008661	Urethral stenosis	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0000047	Hypospadias	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000795	HP:0012853	Scrotal hypospadias	3	CL E G H
HP:0000795	HP:0008664	Urethral sphincter sclerosis	3	CL E G H
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000795	HP:0000051	Perineal hypospadias	3	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked	.	125
HP:0000795	HP:0000051	Perineal hypospadias	3	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0000795	HP:0000051	Perineal hypospadias	3	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent	22
HP:0000795	HP:0012227	Urethral stricture	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000795	HP:0012227	Urethral stricture	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0000795	HP:0012227	Urethral stricture	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.	3
HP:0000795	HP:0012854	Midshaft hypospadias	3	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:0000795	HP:0012854	Midshaft hypospadias	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000795	HP:0000051	Perineal hypospadias	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0000795	HP:0003244	Penile hypospadias	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0000795	HP:0012227	Urethral stricture	3	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0000795	HP:0008743	Coronal hypospadias	3	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000795	HP:0008743	Coronal hypospadias	3	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000795	HP:0008743	Coronal hypospadias	3	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000795	HP:0012227	Urethral stricture	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000795	HP:0000051	Perineal hypospadias	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0003244	Penile hypospadias	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000795	HP:0000807	Glandular hypospadias	3	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000795	HP:0012227	Urethral stricture	3	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000795	HP:0012227	Urethral stricture	3	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000795	HP:0012227	Urethral stricture	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000795	HP:0012227	Urethral stricture	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000795	HP:0012227	Urethral stricture	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked	.	5
HP:0000795	HP:0000807	Glandular hypospadias	3	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0000795	HP:0003244	Penile hypospadias	3	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000795	HP:0000807	Glandular hypospadias	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0000795	HP:0012227	Urethral stricture	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0000795	HP:0012227	Urethral stricture	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0000795	HP:0000807	Glandular hypospadias	3	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0000795	HP:0003244	Penile hypospadias	3	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0000795	HP:0000807	Glandular hypospadias	3	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0000795	HP:0000807	Glandular hypospadias	3	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000795	HP:0008743	Coronal hypospadias	3	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000795	HP:0012227	Urethral stricture	3	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0000795	HP:0012227	Urethral stricture	3	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000795	HP:0012227	Urethral stricture	3	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0000807	Glandular hypospadias	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000795	HP:0010957	Congenital posterior urethral valve	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000795	HP:0000051	Perineal hypospadias	3	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:0000795	HP:0000051	Perineal hypospadias	3	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0000795	HP:0000808	Penoscrotal hypospadias	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000795	HP:0008743	Coronal hypospadias	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0000795	HP:0012227	Urethral stricture	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000795	HP:0012227	Urethral stricture	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000795	HP:0012227	Urethral stricture	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000795	HP:0025415	Bulbar urethral stricture	4	CL E G H
HP:0000795	HP:0025414	Pendulous urethral stricture	4	CL E G H
HP:0000795	HP:0025413	Fossa navicularis urethral stricture	4	CL E G H