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:0000035	HP:0000035	Abnormal testis morphology	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000035	HP:0000035	Abnormal testis morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0000035	HP:0000035	Abnormal testis morphology	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0000035	HP:0000035	Abnormal testis morphology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0000035	HP:0000035	Abnormal testis morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000035	HP:0000035	Abnormal testis morphology	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0000035	HP:0000035	Abnormal testis morphology	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000035	HP:0000035	Abnormal testis morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000035	HP:0000035	Abnormal testis morphology	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0000035	HP:0000035	Abnormal testis morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000035	HP:0000035	Abnormal testis morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0000035	HP:0000035	Abnormal testis morphology	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0000035	HP:0000035	Abnormal testis morphology	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000035	HP:0000035	Abnormal testis morphology	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000035	HP:0000035	Abnormal testis morphology	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000035	HP:0000035	Abnormal testis morphology	0	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0000035	HP:0000035	Abnormal testis morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000035	HP:0000035	Abnormal testis morphology	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0000035	HP:0000035	Abnormal testis morphology	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0000035	HP:0000035	Abnormal testis morphology	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0000035	HP:0000035	Abnormal testis morphology	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0000035	HP:0000035	Abnormal testis morphology	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia		166
HP:0000035	HP:0000035	Abnormal testis morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional	3267
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000035	HP:0000035	Abnormal testis morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000035	HP:0000035	Abnormal testis morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0000035	HP:0000035	Abnormal testis morphology	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000035	HP:0000035	Abnormal testis morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000035	HP:0000035	Abnormal testis morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000035	HP:0000035	Abnormal testis morphology	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0000035	HP:0000035	Abnormal testis morphology	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000035	HP:0000035	Abnormal testis morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000035	HP:0000035	Abnormal testis morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0000035	HP:0000035	Abnormal testis morphology	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0000035	HP:0000035	Abnormal testis morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000035	HP:0000035	Abnormal testis morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000035	HP:0000035	Abnormal testis morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000035	HP:0000035	Abnormal testis morphology	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000035	HP:0000035	Abnormal testis morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0000035	HP:0000035	Abnormal testis morphology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0000035	HP:0000035	Abnormal testis morphology	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000035	HP:0000035	Abnormal testis morphology	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0000035	HP:0000035	Abnormal testis morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0000035	HP:0000035	Abnormal testis morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0000035	HP:0000035	Abnormal testis morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0000035	HP:0000035	Abnormal testis morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0000035	HP:0000035	Abnormal testis morphology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000035	HP:0000035	Abnormal testis morphology	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000035	HP:0000035	Abnormal testis morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000035	HP:0000035	Abnormal testis morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0000035	HP:0000035	Abnormal testis morphology	0	CBX2 CL E G H	84733	1552	ORPHA:242	46,XY complete gonadal dysgenesis		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0000035	HP:0000035	Abnormal testis morphology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000035	HP:0000035	Abnormal testis morphology	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0000035	HP:0000035	Abnormal testis morphology	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000035	HP:0000035	Abnormal testis morphology	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000035	HP:0000035	Abnormal testis morphology	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000035	HP:0000035	Abnormal testis morphology	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0000035	HP:0000035	Abnormal testis morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000035	HP:0000035	Abnormal testis morphology	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000035	HP:0000035	Abnormal testis morphology	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000035	HP:0000035	Abnormal testis morphology	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD7 CL E G H	55636	20626	OMIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia		515
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0000035	HP:0000035	Abnormal testis morphology	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0000035	HP:0000035	Abnormal testis morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000035	HP:0000035	Abnormal testis morphology	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000035	HP:0000035	Abnormal testis morphology	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000035	HP:0000035	Abnormal testis morphology	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000035	HP:0000035	Abnormal testis morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000035	HP:0000035	Abnormal testis morphology	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0000035	HP:0000035	Abnormal testis morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000035	HP:0000035	Abnormal testis morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000035	HP:0000035	Abnormal testis morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0000035	HP:0000035	Abnormal testis morphology	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000035	HP:0000035	Abnormal testis morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000035	HP:0000035	Abnormal testis morphology	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000035	HP:0000035	Abnormal testis morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000035	HP:0000035	Abnormal testis morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000035	HP:0000035	Abnormal testis morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000035	HP:0000035	Abnormal testis morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000035	HP:0000035	Abnormal testis morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000035	HP:0000035	Abnormal testis morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000035	HP:0000035	Abnormal testis morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000035	HP:0000035	Abnormal testis morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000035	HP:0000035	Abnormal testis morphology	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000035	HP:0000035	Abnormal testis morphology	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	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:0000035	HP:0000035	Abnormal testis morphology	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0000035	HP:0000035	Abnormal testis morphology	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0000035	HP:0000035	Abnormal testis morphology	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:0000035	HP:0000035	Abnormal testis morphology	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0000035	HP:0000035	Abnormal testis morphology	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0000035	HP:0000035	Abnormal testis morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0000035	HP:0000035	Abnormal testis morphology	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0000035	HP:0000035	Abnormal testis morphology	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0000035	HP:0000035	Abnormal testis morphology	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0000035	HP:0000035	Abnormal testis morphology	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0000035	HP:0000035	Abnormal testis morphology	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0000035	HP:0000035	Abnormal testis morphology	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0000035	HP:0000035	Abnormal testis morphology	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000035	HP:0000035	Abnormal testis morphology	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHH CL E G H	50846	2865	ORPHA:242	46,XY complete gonadal dysgenesis		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHX37 CL E G H	57647	17210	ORPHA:242	46,XY complete gonadal dysgenesis		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000035	HP:0000035	Abnormal testis morphology	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0000035	HP:0000035	Abnormal testis morphology	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0000035	HP:0000035	Abnormal testis morphology	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0000035	HP:0000035	Abnormal testis morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0000035	HP:0000035	Abnormal testis morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000035	HP:0000035	Abnormal testis morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0000035	HP:0000035	Abnormal testis morphology	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0000035	HP:0000035	Abnormal testis morphology	0	DMRT1 CL E G H	1761	2934	ORPHA:242	46,XY complete gonadal dysgenesis		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0000035	HP:0000035	Abnormal testis morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0000035	HP:0000035	Abnormal testis morphology	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0000035	HP:0000035	Abnormal testis morphology	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000035	HP:0000035	Abnormal testis morphology	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000035	HP:0000035	Abnormal testis morphology	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000035	HP:0000035	Abnormal testis morphology	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000035	HP:0000035	Abnormal testis morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000035	HP:0000035	Abnormal testis morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0000035	HP:0000035	Abnormal testis morphology	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0000035	HP:0000035	Abnormal testis morphology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000035	HP:0000035	Abnormal testis morphology	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0000035	HP:0000035	Abnormal testis morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000035	HP:0000035	Abnormal testis morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0000035	HP:0000035	Abnormal testis morphology	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000035	HP:0000035	Abnormal testis morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000035	HP:0000035	Abnormal testis morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000035	HP:0000035	Abnormal testis morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000035	HP:0000035	Abnormal testis morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0000035	HP:0000035	Abnormal testis morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0000035	HP:0000035	Abnormal testis morphology	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0000035	HP:0000035	Abnormal testis morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000035	HP:0000035	Abnormal testis morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0000035	HP:0000035	Abnormal testis morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000035	HP:0000035	Abnormal testis morphology	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0000035	HP:0000035	Abnormal testis morphology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome		102
HP:0000035	HP:0000035	Abnormal testis morphology	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000035	HP:0000035	Abnormal testis morphology	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0000035	HP:0000035	Abnormal testis morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0000035	HP:0000035	Abnormal testis morphology	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000035	HP:0000035	Abnormal testis morphology	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0000035	HP:0000035	Abnormal testis morphology	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0000035	HP:0000035	Abnormal testis morphology	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0000035	HP:0000035	Abnormal testis morphology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000035	HP:0000035	Abnormal testis morphology	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000035	HP:0000035	Abnormal testis morphology	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0000035	HP:0000035	Abnormal testis morphology	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0000035	HP:0000035	Abnormal testis morphology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0000035	HP:0000035	Abnormal testis morphology	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0000035	HP:0000035	Abnormal testis morphology	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000035	HP:0000035	Abnormal testis morphology	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0000035	HP:0000035	Abnormal testis morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000035	HP:0000035	Abnormal testis morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000035	HP:0000035	Abnormal testis morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease		90
HP:0000035	HP:0000035	Abnormal testis morphology	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0000035	HP:0000035	Abnormal testis morphology	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000035	HP:0000035	Abnormal testis morphology	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000035	HP:0000035	Abnormal testis morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000035	HP:0000035	Abnormal testis morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000035	HP:0000035	Abnormal testis morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000035	HP:0000035	Abnormal testis morphology	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000035	HP:0000035	Abnormal testis morphology	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0000035	HP:0000035	Abnormal testis morphology	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0000035	HP:0000035	Abnormal testis morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0000035	HP:0000035	Abnormal testis morphology	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000035	HP:0000035	Abnormal testis morphology	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000035	HP:0000035	Abnormal testis morphology	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0000035	HP:0000035	Abnormal testis morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000035	HP:0000035	Abnormal testis morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000035	HP:0000035	Abnormal testis morphology	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia		29
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0000035	HP:0000035	Abnormal testis morphology	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0000035	HP:0000035	Abnormal testis morphology	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0000035	HP:0000035	Abnormal testis morphology	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	68
HP:0000035	HP:0000035	Abnormal testis morphology	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0000035	HP:0000035	Abnormal testis morphology	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	74
HP:0000035	HP:0000035	Abnormal testis morphology	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	12
HP:0000035	HP:0000035	Abnormal testis morphology	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome		173
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000035	HP:0000035	Abnormal testis morphology	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0000035	HP:0000035	Abnormal testis morphology	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0000035	HP:0000035	Abnormal testis morphology	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0000035	HP:0000035	Abnormal testis morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0000035	HP:0000035	Abnormal testis morphology	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000035	HP:0000035	Abnormal testis morphology	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000035	HP:0000035	Abnormal testis morphology	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0000035	HP:0000035	Abnormal testis morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000035	HP:0000035	Abnormal testis morphology	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000035	HP:0000035	Abnormal testis morphology	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000035	HP:0000035	Abnormal testis morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000035	HP:0000035	Abnormal testis morphology	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0000035	HP:0000035	Abnormal testis morphology	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000035	HP:0000035	Abnormal testis morphology	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000035	HP:0000035	Abnormal testis morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0000035	HP:0000035	Abnormal testis morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0000035	HP:0000035	Abnormal testis morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0000035	HP:0000035	Abnormal testis morphology	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000035	HP:0000035	Abnormal testis morphology	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0000035	HP:0000035	Abnormal testis morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome		90
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000035	HP:0000035	Abnormal testis morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0000035	HP:0000035	Abnormal testis morphology	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0000035	HP:0000035	Abnormal testis morphology	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000035	HP:0000035	Abnormal testis morphology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0000035	HP:0000035	Abnormal testis morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000035	HP:0000035	Abnormal testis morphology	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000035	HP:0000035	Abnormal testis morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000035	HP:0000035	Abnormal testis morphology	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000035	HP:0000035	Abnormal testis morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0000035	HP:0000035	Abnormal testis morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000035	HP:0000035	Abnormal testis morphology	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000035	HP:0000035	Abnormal testis morphology	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000035	HP:0000035	Abnormal testis morphology	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0000035	HP:0000035	Abnormal testis morphology	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000035	HP:0000035	Abnormal testis morphology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000035	HP:0000035	Abnormal testis morphology	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000035	HP:0000035	Abnormal testis morphology	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000035	HP:0000035	Abnormal testis morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0000035	HP:0000035	Abnormal testis morphology	0	INSL3 CL E G H	3640	6086	OMIM:219050	Cryptorchidism, unilateral or bilateral		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0000035	HP:0000035	Abnormal testis morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0000035	HP:0000035	Abnormal testis morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0000035	HP:0000035	Abnormal testis morphology	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000035	HP:0000035	Abnormal testis morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000035	HP:0000035	Abnormal testis morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0000035	HP:0000035	Abnormal testis morphology	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant		141
HP:0000035	HP:0000035	Abnormal testis morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000035	HP:0000035	Abnormal testis morphology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0000035	HP:0000035	Abnormal testis morphology	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	4
HP:0000035	HP:0000035	Abnormal testis morphology	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0000035	HP:0000035	Abnormal testis morphology	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0000035	HP:0000035	Abnormal testis morphology	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0000035	HP:0000035	Abnormal testis morphology	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000035	HP:0000035	Abnormal testis morphology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000035	HP:0000035	Abnormal testis morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000035	HP:0000035	Abnormal testis morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000035	HP:0000035	Abnormal testis morphology	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0000035	HP:0000035	Abnormal testis morphology	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000035	HP:0000035	Abnormal testis morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000035	HP:0000035	Abnormal testis morphology	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000035	HP:0000035	Abnormal testis morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0000035	HP:0000035	Abnormal testis morphology	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000035	HP:0000035	Abnormal testis morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0000035	HP:0000035	Abnormal testis morphology	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0000035	HP:0000035	Abnormal testis morphology	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0000035	HP:0000035	Abnormal testis morphology	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0000035	HP:0000035	Abnormal testis morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0000035	HP:0000035	Abnormal testis morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0000035	HP:0000035	Abnormal testis morphology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000035	HP:0000035	Abnormal testis morphology	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0000035	HP:0000035	Abnormal testis morphology	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0000035	HP:0000035	Abnormal testis morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000035	HP:0000035	Abnormal testis morphology	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000035	HP:0000035	Abnormal testis morphology	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0000035	HP:0000035	Abnormal testis morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000035	HP:0000035	Abnormal testis morphology	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0000035	HP:0000035	Abnormal testis morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000035	HP:0000035	Abnormal testis morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome		5
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP3K1 CL E G H	4214	6848	ORPHA:242	46,XY complete gonadal dysgenesis		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000035	HP:0000035	Abnormal testis morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0000035	HP:000