Human Phenotype Ontology 
Grandparent Node:
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Abnormal external genitalia (HP:0000811)help
Grandparent Node:
expand
Abnormality of the male genitalia (HP:0010461)help
Parent Node:
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Abnormality of male external genitalia (HP:0000032)help
..Starting node
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Abnormal testis morphology (HP:0000035)help
Term ID: 35
Name: Abnormal testis morphology
Synonym: Abnormality of the testis; Anomaly of the testes
Definition: An anomaly of the testicle (the male gonad).
Comments:
Reference: HP:0000035
Genes and Diseases:
 
       Child Nodes:
........expandCryptorchidism (HP:0000028) help
................... HP:0008689 Bilateral cryptorchidism
................... HP:0012741 Unilateral cryptorchidism
........expandTesticular atrophy (HP:0000029) help
........expandHydrocele testis (HP:0000034) help
........expandTesticular dysgenesis (HP:0008715) help
........expandPrimary testicular failure (HP:0008720) help
........expandDysplastic testes (HP:0008733) help
........expandSupernumerary testes (HP:0010470) help
........expandTesticular neoplasm (HP:0010788) help
................... HP:0000030 Testicular gonadoblastoma
................... HP:0025451 Testicular adrenal rest tumor
................... HP:0100005 Testicular mesothelioma
................... HP:0100616 Testicular teratoma
................... HP:0100617 Testicular seminoma
................... HP:0100618 Leydig cell neoplasia
................... HP:0100619 Sertoli cell neoplasm
........expandAbnormality of the Leydig cells (HP:0010789) help
................... HP:0010790 Hyoplasia of the Leydig cells
................... HP:0010791 Hyperplasia of the Leydig cells
................... HP:0100618 Leydig cell neoplasia
........expandTesticular microlithiasis (HP:0012215) help
........expandRetractile testis (HP:0012646) help
........expandTesticular fibrosis (HP:0012860) help
........expandVanishing testis (HP:0012870) help
........expandIntratesticular abscess (HP:0025038) help
........expandTesticular lipomatosis (HP:0025476) help
........expandMonorchism (HP:0030868) help
........expandAnorchism (HP:0030869) help
........expandAbnormality of the testis size (HP:0045058) help
................... HP:0000053 Macroorchidism
................... HP:0010468 Aplasia/Hypoplasia of the testes
........expandOrchitis (HP:0100796) help
........expandTesticular torsion (HP:0100813) help

 Sister Nodes: 
..expandAbnormal penis morphology (HP:0000036) help
..expandAbnormality of the scrotum (HP:0000045) help
..expandAbnormality of the urethra (HP:0000795) help
..expandAmbiguous genitalia, male (HP:0000033) help
..expandFemale external genitalia in individual with 46,XY karyotype (HP:0008730) help
..expandMale pseudohermaphroditism (HP:0000037) help
..expandNeoplasm of the male external genitalia (HP:0100848) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000035HP:0000035Abnormal testis morphology0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000035HP:0000035Abnormal testis morphology0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0000035HP:0000035Abnormal testis morphology0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0000035HP:0000035Abnormal testis morphology0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0000035HP:0000035Abnormal testis morphology0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000035HP:0000035Abnormal testis morphology0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome23
HP:0000035HP:0000035Abnormal testis morphology0ADAMTS3 CL E G H9508219OMIM:618154Hennekam lymphangiectasia-lymphedema syndrome 31
HP:0000035HP:0000035Abnormal testis morphology0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000035HP:0000035Abnormal testis morphology0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0000035HP:0000035Abnormal testis morphology0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000035HP:0000035Abnormal testis morphology0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000035HP:0000035Abnormal testis morphology0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0000035HP:0000035Abnormal testis morphology0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000035HP:0000035Abnormal testis morphology0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0000035HP:0000035Abnormal testis morphology0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0000035HP:0000035Abnormal testis morphology0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000035HP:0000035Abnormal testis morphology0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000035HP:0000035Abnormal testis morphology0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000035HP:0000035Abnormal testis morphology0AKR1C2 CL E G H1646385OMIM:61427946,xy sex reversal 87
HP:0000035HP:0000035Abnormal testis morphology0AKR1C4 CL E G H1109387OMIM:61427946,xy sex reversal 83
HP:0000035HP:0000035Abnormal testis morphology0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000035HP:0000035Abnormal testis morphology0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000035HP:0000035Abnormal testis morphology0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0000035HP:0000035Abnormal testis morphology0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000035HP:0000035Abnormal testis morphology0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000035HP:0000035Abnormal testis morphology0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0000035HP:0000035Abnormal testis morphology0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0000035HP:0000035Abnormal testis morphology0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0000035HP:0000035Abnormal testis morphology0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000035HP:0000035Abnormal testis morphology0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000035HP:0000035Abnormal testis morphology0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0000035HP:0000035Abnormal testis morphology0AMH CL E G H268464ORPHA:2856Persistent Müllerian duct syndrome9
HP:0000035HP:0000035Abnormal testis morphology0AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0000035HP:0000035Abnormal testis morphology0AMHR2 CL E G H269465ORPHA:2856Persistent Müllerian duct syndrome8
HP:0000035HP:0000035Abnormal testis morphology0AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0000035HP:0000035Abnormal testis morphology0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0000035HP:0000035Abnormal testis morphology0ANGPT2 CL E G H285485OMIM:619369LYMPHATIC MALFORMATION 10; LMPHM10
HP:0000035HP:0000035Abnormal testis morphology0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0000035HP:0000035Abnormal testis morphology0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0000035HP:0000035Abnormal testis morphology0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0000035HP:0000035Abnormal testis morphology0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000035HP:0000035Abnormal testis morphology0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0000035HP:0000035Abnormal testis morphology0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0000035HP:0000035Abnormal testis morphology0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0000035HP:0000035Abnormal testis morphology0AP1S2 CL E G H8905560ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome13
HP:0000035HP:0000035Abnormal testis morphology0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644ORPHA:481Kennedy disease125
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadias125
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000035HP:0000035Abnormal testis morphology0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0000035HP:0000035Abnormal testis morphology0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000035HP:0000035Abnormal testis morphology0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000035HP:0000035Abnormal testis morphology0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0000035HP:0000035Abnormal testis morphology0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000035HP:0000035Abnormal testis morphology0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0000035HP:0000035Abnormal testis morphology0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000035HP:0000035Abnormal testis morphology0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0000035HP:0000035Abnormal testis morphology0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000035HP:0000035Abnormal testis morphology0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000035HP:0000035Abnormal testis morphology0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0000035HP:0000035Abnormal testis morphology0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000035HP:0000035Abnormal testis morphology0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000035HP:0000035Abnormal testis morphology0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0000035HP:0000035Abnormal testis morphology0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0000035HP:0000035Abnormal testis morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000035HP:0000035Abnormal testis morphology0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0000035HP:0000035Abnormal testis morphology0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000035HP:0000035Abnormal testis morphology0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0000035HP:0000035Abnormal testis morphology0ARX CL E G H17030218060ORPHA:94083Partington syndrome166
HP:0000035HP:0000035Abnormal testis morphology0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0000035HP:0000035Abnormal testis morphology0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000035HP:0000035Abnormal testis morphology0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000035HP:0000035Abnormal testis morphology0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0000035HP:0000035Abnormal testis morphology0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0000035HP:0000035Abnormal testis morphology0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0000035HP:0000035Abnormal testis morphology0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0000035HP:0000035Abnormal testis morphology0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0000035HP:0000035Abnormal testis morphology0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000035HP:0000035Abnormal testis morphology0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000035HP:0000035Abnormal testis morphology0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0000035HP:0000035Abnormal testis morphology0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0000035HP:0000035Abnormal testis morphology0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0000035HP:0000035Abnormal testis morphology0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0000035HP:0000035Abnormal testis morphology0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000035HP:0000035Abnormal testis morphology0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0000035HP:0000035Abnormal testis morphology0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000035HP:0000035Abnormal testis morphology0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0000035HP:0000035Abnormal testis morphology0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000035HP:0000035Abnormal testis morphology0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000035HP:0000035Abnormal testis morphology0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0000035HP:0000035Abnormal testis morphology0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0000035HP:0000035Abnormal testis morphology0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0000035HP:0000035Abnormal testis morphology0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0000035HP:0000035Abnormal testis morphology0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0000035HP:0000035Abnormal testis morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0000035HP:0000035Abnormal testis morphology0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0000035HP:0000035Abnormal testis morphology0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000035HP:0000035Abnormal testis morphology0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000035HP:0000035Abnormal testis morphology0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0000035HP:0000035Abnormal testis morphology0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0000035HP:0000035Abnormal testis morphology0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0000035HP:0000035Abnormal testis morphology0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000035HP:0000035Abnormal testis morphology0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0000035HP:0000035Abnormal testis morphology0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 487
HP:0000035HP:0000035Abnormal testis morphology0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0000035HP:0000035Abnormal testis morphology0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0000035HP:0000035Abnormal testis morphology0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0000035HP:0000035Abnormal testis morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0000035HP:0000035Abnormal testis morphology0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000035HP:0000035Abnormal testis morphology0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000035HP:0000035Abnormal testis morphology0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0000035HP:0000035Abnormal testis morphology0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000035HP:0000035Abnormal testis morphology0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000035HP:0000035Abnormal testis morphology0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0000035HP:0000035Abnormal testis morphology0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000035HP:0000035Abnormal testis morphology0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 113
HP:0000035HP:0000035Abnormal testis morphology0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0000035HP:0000035Abnormal testis morphology0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000035HP:0000035Abnormal testis morphology0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000035HP:0000035Abnormal testis morphology0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000035HP:0000035Abnormal testis morphology0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000035HP:0000035Abnormal testis morphology0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0000035HP:0000035Abnormal testis morphology0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000035HP:0000035Abnormal testis morphology0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000035HP:0000035Abnormal testis morphology0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0000035HP:0000035Abnormal testis morphology0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000035HP:0000035Abnormal testis morphology0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0000035HP:0000035Abnormal testis morphology0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000035HP:0000035Abnormal testis morphology0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000035HP:0000035Abnormal testis morphology0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0000035HP:0000035Abnormal testis morphology0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0000035HP:0000035Abnormal testis morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0C14ORF39 CL E G H31776119849ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0000035HP:0000035Abnormal testis morphology0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000035HP:0000035Abnormal testis morphology0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000035HP:0000035Abnormal testis morphology0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0000035HP:0000035Abnormal testis morphology0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000035HP:0000035Abnormal testis morphology0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000035HP:0000035Abnormal testis morphology0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000035HP:0000035Abnormal testis morphology0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000035HP:0000035Abnormal testis morphology0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0000035HP:0000035Abnormal testis morphology0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0000035HP:0000035Abnormal testis morphology0CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesis3
HP:0000035HP:0000035Abnormal testis morphology0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0000035HP:0000035Abnormal testis morphology0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000035HP:0000035Abnormal testis morphology0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000035HP:0000035Abnormal testis morphology0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0000035HP:0000035Abnormal testis morphology0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000035HP:0000035Abnormal testis morphology0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 233
HP:0000035HP:0000035Abnormal testis morphology0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000035HP:0000035Abnormal testis morphology0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000035HP:0000035Abnormal testis morphology0CCDC34 CL E G H9105725079ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0000035HP:0000035Abnormal testis morphology0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0000035HP:0000035Abnormal testis morphology0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0000035HP:0000035Abnormal testis morphology0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000035HP:0000035Abnormal testis morphology0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000035HP:0000035Abnormal testis morphology0CDC42BPB CL E G H95781738OMIM:619841
HP:0000035HP:0000035Abnormal testis morphology0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0000035HP:0000035Abnormal testis morphology0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0000035HP:0000035Abnormal testis morphology0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0000035HP:0000035Abnormal testis morphology0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 531
HP:0000035HP:0000035Abnormal testis morphology0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0000035HP:0000035Abnormal testis morphology0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0000035HP:0000035Abnormal testis morphology0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000035HP:0000035Abnormal testis morphology0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000035HP:0000035Abnormal testis morphology0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000035HP:0000035Abnormal testis morphology0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000035HP:0000035Abnormal testis morphology0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000035HP:0000035Abnormal testis morphology0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0000035HP:0000035Abnormal testis morphology0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0000035HP:0000035Abnormal testis morphology0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndrome114
HP:0000035HP:0000035Abnormal testis morphology0CDKN1C CL E G H10281786ORPHA:436144Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome114
HP:0000035HP:0000035Abnormal testis morphology0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0000035HP:0000035Abnormal testis morphology0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0000035HP:0000035Abnormal testis morphology0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0000035HP:0000035Abnormal testis morphology0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndrome200
HP:0000035HP:0000035Abnormal testis morphology0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0000035HP:0000035Abnormal testis morphology0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 450
HP:0000035HP:0000035Abnormal testis morphology0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0000035HP:0000035Abnormal testis morphology0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0000035HP:0000035Abnormal testis morphology0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0000035HP:0000035Abnormal testis morphology0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0000035HP:0000035Abnormal testis morphology0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0000035HP:0000035Abnormal testis morphology0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000035HP:0000035Abnormal testis morphology0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0000035HP:0000035Abnormal testis morphology0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000035HP:0000035Abnormal testis morphology0CFTR CL E G H10801884ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1371
HP:0000035HP:0000035Abnormal testis morphology0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000035HP:0000035Abnormal testis morphology0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000035HP:0000035Abnormal testis morphology0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000035HP:0000035Abnormal testis morphology0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0000035HP:0000035Abnormal testis morphology0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0000035HP:0000035Abnormal testis morphology0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000035HP:0000035Abnormal testis morphology0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0000035HP:0000035Abnormal testis morphology0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0000035HP:0000035Abnormal testis morphology0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0000035HP:0000035Abnormal testis morphology0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndrome68
HP:0000035HP:0000035Abnormal testis morphology0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000035HP:0000035Abnormal testis morphology0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000035HP:0000035Abnormal testis morphology0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000035HP:0000035Abnormal testis morphology0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000035HP:0000035Abnormal testis morphology0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0000035HP:0000035Abnormal testis morphology0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0000035HP:0000035Abnormal testis morphology0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0000035HP:0000035Abnormal testis morphology0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000035HP:0000035Abnormal testis morphology0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0000035HP:0000035Abnormal testis morphology0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0000035HP:0000035Abnormal testis morphology0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0000035HP:0000035Abnormal testis morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0000035HP:0000035Abnormal testis morphology0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000035HP:0000035Abnormal testis morphology0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000035HP:0000035Abnormal testis morphology0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000035HP:0000035Abnormal testis morphology0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000035HP:0000035Abnormal testis morphology0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0000035HP:0000035Abnormal testis morphology0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000035HP:0000035Abnormal testis morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000035HP:0000035Abnormal testis morphology0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0000035HP:0000035Abnormal testis morphology0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0000035HP:0000035Abnormal testis morphology0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000035HP:0000035Abnormal testis morphology0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0000035HP:0000035Abnormal testis morphology0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0000035HP:0000035Abnormal testis morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000035HP:0000035Abnormal testis morphology0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000035HP:0000035Abnormal testis morphology0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000035HP:0000035Abnormal testis morphology0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000035HP:0000035Abnormal testis morphology0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000035HP:0000035Abnormal testis morphology0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000035HP:0000035Abnormal testis morphology0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000035HP:0000035Abnormal testis morphology0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000035HP:0000035Abnormal testis morphology0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000035HP:0000035Abnormal testis morphology0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0000035HP:0000035Abnormal testis morphology0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0000035HP:0000035Abnormal testis morphology0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0000035HP:0000035Abnormal testis morphology0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000035HP:0000035Abnormal testis morphology0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0000035HP:0000035Abnormal testis morphology0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000035HP:0000035Abnormal testis morphology0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000035HP:0000035Abnormal testis morphology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0000035HP:0000035Abnormal testis morphology0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0000035HP:0000035Abnormal testis morphology0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000035HP:0000035Abnormal testis morphology0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0000035HP:0000035Abnormal testis morphology0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000035HP:0000035Abnormal testis morphology0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0000035HP:0000035Abnormal testis morphology0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0000035HP:0000035Abnormal testis morphology0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0000035HP:0000035Abnormal testis morphology0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0000035HP:0000035Abnormal testis morphology0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000035HP:0000035Abnormal testis morphology0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000035HP:0000035Abnormal testis morphology0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000035HP:0000035Abnormal testis morphology0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000035HP:0000035Abnormal testis morphology0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0000035HP:0000035Abnormal testis morphology0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000035HP:0000035Abnormal testis morphology0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0000035HP:0000035Abnormal testis morphology0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0000035HP:0000035Abnormal testis morphology0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0000035HP:0000035Abnormal testis morphology0DAZ1 CL E G H16172682ORPHA:1646Partial chromosome Y deletion
HP:0000035HP:0000035Abnormal testis morphology0DAZ2 CL E G H5705515964ORPHA:1646Partial chromosome Y deletion
HP:0000035HP:0000035Abnormal testis morphology0DAZ3 CL E G H5705415965ORPHA:1646Partial chromosome Y deletion
HP:0000035HP:0000035Abnormal testis morphology0DAZ4 CL E G H5713515966ORPHA:1646Partial chromosome Y deletion
HP:0000035HP:0000035Abnormal testis morphology0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0000035HP:0000035Abnormal testis morphology0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0000035HP:0000035Abnormal testis morphology0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0000035HP:0000035Abnormal testis morphology0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0000035HP:0000035Abnormal testis morphology0DDX3Y CL E G H86532699ORPHA:1646Partial chromosome Y deletion
HP:0000035HP:0000035Abnormal testis morphology0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000035HP:0000035Abnormal testis morphology0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000035HP:0000035Abnormal testis morphology0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0000035HP:0000035Abnormal testis morphology0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0000035HP:0000035Abnormal testis morphology0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0000035HP:0000035Abnormal testis morphology0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000035HP:0000035Abnormal testis morphology0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000035HP:0000035Abnormal testis morphology0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000035HP:0000035Abnormal testis morphology0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0000035HP:0000035Abnormal testis morphology0DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesis21
HP:0000035HP:0000035Abnormal testis morphology0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndrome21
HP:0000035HP:0000035Abnormal testis morphology0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis59
HP:0000035HP:0000035Abnormal testis morphology0DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0000035HP:0000035Abnormal testis morphology0DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000035HP:0000035Abnormal testis morphology0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0000035HP:0000035Abnormal testis morphology0DHX37 CL E G H5764717210ORPHA:983Testicular regression syndrome2
HP:0000035HP:0000035Abnormal testis morphology0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000035HP:0000035Abnormal testis morphology0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0000035HP:0000035Abnormal testis morphology0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0000035HP:0000035Abnormal testis morphology0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0000035HP:0000035Abnormal testis morphology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0000035HP:0000035Abnormal testis morphology0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0000035HP:0000035Abnormal testis morphology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000035HP:0000035Abnormal testis morphology0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000035HP:0000035Abnormal testis morphology0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0000035HP:0000035Abnormal testis morphology0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000035HP:0000035Abnormal testis morphology0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0000035HP:0000035Abnormal testis morphology0DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000035HP:0000035Abnormal testis morphology0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0000035HP:0000035Abnormal testis morphology0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0000035HP:0000035Abnormal testis morphology0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0000035HP:0000035Abnormal testis morphology0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0000035HP:0000035Abnormal testis morphology0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0000035HP:0000035Abnormal testis morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0000035HP:0000035Abnormal testis morphology0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0000035HP:0000035Abnormal testis morphology0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0000035HP:0000035Abnormal testis morphology0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0000035HP:0000035Abnormal testis morphology0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0000035HP:0000035Abnormal testis morphology0DPH2 CL E G H18023004OMIM:620062
HP:0000035HP:0000035Abnormal testis morphology0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000035HP:0000035Abnormal testis morphology0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000035HP:0000035Abnormal testis morphology0DTYMK CL E G H18413061OMIM:619847
HP:0000035HP:0000035Abnormal testis morphology0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0000035HP:0000035Abnormal testis morphology0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0000035HP:0000035Abnormal testis morphology0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0000035HP:0000035Abnormal testis morphology0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0000035HP:0000035Abnormal testis morphology0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000035HP:0000035Abnormal testis morphology0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0000035HP:0000035Abnormal testis morphology0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0000035HP:0000035Abnormal testis morphology0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000035HP:0000035Abnormal testis morphology0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0000035HP:0000035Abnormal testis morphology0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000035HP:0000035Abnormal testis morphology0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000035HP:0000035Abnormal testis morphology0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0000035HP:0000035Abnormal testis morphology0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0000035HP:0000035Abnormal testis morphology0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000035HP:0000035Abnormal testis morphology0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0000035HP:0000035Abnormal testis morphology0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000035HP:0000035Abnormal testis morphology0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0000035HP:0000035Abnormal testis morphology0EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0000035HP:0000035Abnormal testis morphology0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000035HP:0000035Abnormal testis morphology0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000035HP:0000035Abnormal testis morphology0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0000035HP:0000035Abnormal testis morphology0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0000035HP:0000035Abnormal testis morphology0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000035HP:0000035Abnormal testis morphology0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000035HP:0000035Abnormal testis morphology0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndrome8
HP:0000035HP:0000035Abnormal testis morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000035HP:0000035Abnormal testis morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000035HP:0000035Abnormal testis morphology0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0000035HP:0000035Abnormal testis morphology0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000035HP:0000035Abnormal testis morphology0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0000035HP:0000035Abnormal testis morphology0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0000035HP:0000035Abnormal testis morphology0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000035HP:0000035Abnormal testis morphology0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000035HP:0000035Abnormal testis morphology0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0000035HP:0000035Abnormal testis morphology0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000035HP:0000035Abnormal testis morphology0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0000035HP:0000035Abnormal testis morphology0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000035HP:0000035Abnormal testis morphology0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000035HP:0000035Abnormal testis morphology0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0000035HP:0000035Abnormal testis morphology0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0000035HP:0000035Abnormal testis morphology0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000035HP:0000035Abnormal testis morphology0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000035HP:0000035Abnormal testis morphology0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000035HP:0000035Abnormal testis morphology0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000035HP:0000035Abnormal testis morphology0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000035HP:0000035Abnormal testis morphology0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000035HP:0000035Abnormal testis morphology0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000035HP:0000035Abnormal testis morphology0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000035HP:0000035Abnormal testis morphology0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0000035HP:0000035Abnormal testis morphology0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0000035HP:0000035Abnormal testis morphology0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0000035HP:0000035Abnormal testis morphology0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0000035HP:0000035Abnormal testis morphology0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0000035HP:0000035Abnormal testis morphology0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0000035HP:0000035Abnormal testis morphology0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0000035HP:0000035Abnormal testis morphology0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0000035HP:0000035Abnormal testis morphology0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0000035HP:0000035Abnormal testis morphology0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndrome102
HP:0000035HP:0000035Abnormal testis morphology0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000035HP:0000035Abnormal testis morphology0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0000035HP:0000035Abnormal testis morphology0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0000035HP:0000035Abnormal testis morphology0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0000035HP:0000035Abnormal testis morphology0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000035HP:0000035Abnormal testis morphology0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000035HP:0000035Abnormal testis morphology0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0000035HP:0000035Abnormal testis morphology0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000035HP:0000035Abnormal testis morphology0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000035HP:0000035Abnormal testis morphology0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0000035HP:0000035Abnormal testis morphology0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000035HP:0000035Abnormal testis morphology0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000035HP:0000035Abnormal testis morphology0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000035HP:0000035Abnormal testis morphology0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000035HP:0000035Abnormal testis morphology0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000035HP:0000035Abnormal testis morphology0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0000035HP:0000035Abnormal testis morphology0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000035HP:0000035Abnormal testis morphology0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000035HP:0000035Abnormal testis morphology0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000035HP:0000035Abnormal testis morphology0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000035HP:0000035Abnormal testis morphology0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000035HP:0000035Abnormal testis morphology0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000035HP:0000035Abnormal testis morphology0FANCM CL E G H5769723168ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation107
HP:0000035HP:0000035Abnormal testis morphology0FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28107
HP:0000035HP:0000035Abnormal testis morphology0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0000035HP:0000035Abnormal testis morphology0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0000035HP:0000035Abnormal testis morphology0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0000035HP:0000035Abnormal testis morphology0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0000035HP:0000035Abnormal testis morphology0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000035HP:0000035Abnormal testis morphology0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0000035HP:0000035Abnormal testis morphology0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000035HP:0000035Abnormal testis morphology0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000035HP:0000035Abnormal testis morphology0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia2
HP:0000035HP:0000035Abnormal testis morphology0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0000035HP:0000035Abnormal testis morphology0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0000035HP:0000035Abnormal testis morphology0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0000035HP:0000035Abnormal testis morphology0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000035HP:0000035Abnormal testis morphology0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0000035HP:0000035Abnormal testis morphology0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0000035HP:0000035Abnormal testis morphology0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0000035HP:0000035Abnormal testis morphology0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000035HP:0000035Abnormal testis morphology0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia17
HP:0000035HP:0000035Abnormal testis morphology0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0000035HP:0000035Abnormal testis morphology0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0000035HP:0000035Abnormal testis morphology0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0000035HP:0000035Abnormal testis morphology0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000035HP:0000035Abnormal testis morphology0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000035HP:0000035Abnormal testis morphology0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0000035HP:0000035Abnormal testis morphology0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0000035HP:0000035Abnormal testis morphology0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0000035HP:0000035Abnormal testis morphology0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0000035HP:0000035Abnormal testis morphology0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000035HP:0000035Abnormal testis morphology0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000035HP:0000035Abnormal testis morphology0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000035HP:0000035Abnormal testis morphology0FKBP6 CL E G H84683722OMIM:620103
HP:0000035HP:0000035Abnormal testis morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0000035HP:0000035Abnormal testis morphology0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000035HP:0000035Abnormal testis morphology0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0000035HP:0000035Abnormal testis morphology0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000035HP:0000035Abnormal testis morphology0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0000035HP:0000035Abnormal testis morphology0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0000035HP:0000035Abnormal testis morphology0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000035HP:0000035Abnormal testis morphology0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0000035HP:0000035Abnormal testis morphology0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0000035HP:0000035Abnormal testis morphology0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0000035HP:0000035Abnormal testis morphology0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0000035HP:0000035Abnormal testis morphology0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0000035HP:0000035Abnormal testis morphology0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0000035HP:0000035Abnormal testis morphology0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0000035HP:0000035Abnormal testis morphology0FLT4 CL E G H23243767ORPHA:79452Milroy disease90
HP:0000035HP:0000035Abnormal testis morphology0FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0000035HP:0000035Abnormal testis morphology0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0000035HP:0000035Abnormal testis morphology0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0000035HP:0000035Abnormal testis morphology0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0000035HP:0000035Abnormal testis morphology0FOCAD CL E G H5491423377OMIM:6199913
HP:0000035HP:0000035Abnormal testis morphology0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000035HP:0000035Abnormal testis morphology0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0000035HP:0000035Abnormal testis morphology0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0000035HP:0000035Abnormal testis morphology0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0000035HP:0000035Abnormal testis morphology0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000035HP:0000035Abnormal testis morphology0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia23
HP:0000035HP:0000035Abnormal testis morphology0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0000035HP:0000035Abnormal testis morphology0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0000035HP:0000035Abnormal testis morphology0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0000035HP:0000035Abnormal testis morphology0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000035HP:0000035Abnormal testis morphology0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000035HP:0000035Abnormal testis morphology0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0000035HP:0000035Abnormal testis morphology0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0000035HP:0000035Abnormal testis morphology0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0000035HP:0000035Abnormal testis morphology0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000035HP:0000035Abnormal testis morphology0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0000035HP:0000035Abnormal testis morphology0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0000035HP:0000035Abnormal testis morphology0GATA1 CL E G H26234170ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemia29
HP:0000035HP:0000035Abnormal testis morphology0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0000035HP:0000035Abnormal testis morphology0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0000035HP:0000035Abnormal testis morphology0GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease87
HP:0000035HP:0000035Abnormal testis morphology0GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0000035HP:0000035Abnormal testis morphology0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0000035HP:0000035Abnormal testis morphology0GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0000035HP:0000035Abnormal testis morphology0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0000035HP:0000035Abnormal testis morphology0GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0000035HP:0000035Abnormal testis morphology0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0000035HP:0000035Abnormal testis morphology0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0000035HP:0000035Abnormal testis morphology0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional68
HP:0000035HP:0000035Abnormal testis morphology0GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0000035HP:0000035Abnormal testis morphology0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional74
HP:0000035HP:0000035Abnormal testis morphology0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional12
HP:0000035HP:0000035Abnormal testis morphology0GJC2 CL E G H5716517494ORPHA:79452Milroy disease37
HP:0000035HP:0000035Abnormal testis morphology0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency13
HP:0000035HP:0000035Abnormal testis morphology0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0000035HP:0000035Abnormal testis morphology0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0000035HP:0000035Abnormal testis morphology0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000035HP:0000035Abnormal testis morphology0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome173
HP:0000035HP:0000035Abnormal testis morphology0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000035HP:0000035Abnormal testis morphology0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0000035HP:0000035Abnormal testis morphology0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000035HP:0000035Abnormal testis morphology0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000035HP:0000035Abnormal testis morphology0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000035HP:0000035Abnormal testis morphology0GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0000035HP:0000035Abnormal testis morphology0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0000035HP:0000035Abnormal testis morphology0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000035HP:0000035Abnormal testis morphology0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0000035HP:0000035Abnormal testis morphology0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040282 - Frequent101
HP:0000035HP:0000035Abnormal testis morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000035HP:0000035Abnormal testis morphology0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0000035HP:0000035Abnormal testis morphology0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0000035HP:0000035Abnormal testis morphology0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0000035HP:0000035Abnormal testis morphology0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0000035HP:0000035Abnormal testis morphology0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0000035HP:0000035Abnormal testis morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000035HP:0000035Abnormal testis morphology0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0000035HP:0000035Abnormal testis morphology0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000035HP:0000035Abnormal testis morphology0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0000035HP:0000035Abnormal testis morphology0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000035HP:0000035Abnormal testis morphology0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasia99
HP:0000035HP:0000035Abnormal testis morphology0GPC6 CL E G H100824454OMIM:258315Omodysplasia 199
HP:0000035HP:0000035Abnormal testis morphology0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndrome2
HP:0000035HP:0000035Abnormal testis morphology0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000035HP:0000035Abnormal testis morphology0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000035HP:0000035Abnormal testis morphology0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0000035HP:0000035Abnormal testis morphology0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures274
HP:0000035HP:0000035Abnormal testis morphology0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0000035HP:0000035Abnormal testis morphology0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0000035HP:0000035Abnormal testis morphology0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000035HP:0000035Abnormal testis morphology0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000035HP:0000035Abnormal testis morphology0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000035HP:0000035Abnormal testis morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000035HP:0000035Abnormal testis morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000035HP:0000035Abnormal testis morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000035HP:0000035Abnormal testis morphology0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000035HP:0000035Abnormal testis morphology0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0000035HP:0000035Abnormal testis morphology0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasia4
HP:0000035HP:0000035Abnormal testis morphology0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0000035HP:0000035Abnormal testis morphology0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0000035HP:0000035Abnormal testis morphology0H4C5 CL E G H83674790OMIM:619950
HP:0000035HP:0000035Abnormal testis morphology0H4C9 CL E G H82944793OMIM:619951
HP:0000035HP:0000035Abnormal testis morphology0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0000035HP:0000035Abnormal testis morphology0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0000035HP:0000035Abnormal testis morphology0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000035HP:0000035Abnormal testis morphology0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000035HP:0000035Abnormal testis morphology0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000035HP:0000035Abnormal testis morphology0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000035HP:0000035Abnormal testis morphology0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0000035HP:0000035Abnormal testis morphology0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000035HP:0000035Abnormal testis morphology0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosis10
HP:0000035HP:0000035Abnormal testis morphology0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000035HP:0000035Abnormal testis morphology0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0000035HP:0000035Abnormal testis morphology0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndrome21
HP:0000035HP:0000035Abnormal testis morphology0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0000035HP:0000035Abnormal testis morphology0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 138
HP:0000035HP:0000035Abnormal testis morphology0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0000035HP:0000035Abnormal testis morphology0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000035HP:0000035Abnormal testis morphology0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0000035HP:0000035Abnormal testis morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000035HP:0000035Abnormal testis morphology0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0000035HP:0000035Abnormal testis morphology0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0000035HP:0000035Abnormal testis morphology0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndrome90
HP:0000035HP:0000035Abnormal testis morphology0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000035HP:0000035Abnormal testis morphology0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome8
HP:0000035HP:0000035Abnormal testis morphology0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000035HP:0000035Abnormal testis morphology0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000035HP:0000035Abnormal testis morphology0HNRNPR CL E G H102365047OMIM:620073
HP:0000035HP:0000035Abnormal testis morphology0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0000035HP:0000035Abnormal testis morphology0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0000035HP:0000035Abnormal testis morphology0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndrome9
HP:0000035HP:0000035Abnormal testis morphology0HPSE2 CL E G H6049518374OMIM:236730Urofacial syndrome9
HP:0000035HP:0000035Abnormal testis morphology0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0000035HP:0000035Abnormal testis morphology0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0000035HP:0000035Abnormal testis morphology0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000035HP:0000035Abnormal testis morphology0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia8
HP:0000035HP:0000035Abnormal testis morphology0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0000035HP:0000035Abnormal testis morphology0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0000035HP:0000035Abnormal testis morphology0HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency31
HP:0000035HP:0000035Abnormal testis morphology0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000035HP:0000035Abnormal testis morphology0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0000035HP:0000035Abnormal testis morphology0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0000035HP:0000035Abnormal testis morphology0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0000035HP:0000035Abnormal testis morphology0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0000035HP:0000035Abnormal testis morphology0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0000035HP:0000035Abnormal testis morphology0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000035HP:0000035Abnormal testis morphology0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0000035HP:0000035Abnormal testis morphology0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000035HP:0000035Abnormal testis morphology0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000035HP:0000035Abnormal testis morphology0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000035HP:0000035Abnormal testis morphology0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome6
HP:0000035HP:0000035Abnormal testis morphology0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0000035HP:0000035Abnormal testis morphology0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000035HP:0000035Abnormal testis morphology0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0000035HP:0000035Abnormal testis morphology0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000035HP:0000035Abnormal testis morphology0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000035HP:0000035Abnormal testis morphology0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0000035HP:0000035Abnormal testis morphology0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0000035HP:0000035Abnormal testis morphology0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0000035HP:0000035Abnormal testis morphology0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000035HP:0000035Abnormal testis morphology0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000035HP:0000035Abnormal testis morphology0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0000035HP:0000035Abnormal testis morphology0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies9
HP:0000035HP:0000035Abnormal testis morphology0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasia9
HP:0000035HP:0000035Abnormal testis morphology0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0000035HP:0000035Abnormal testis morphology0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0000035HP:0000035Abnormal testis morphology0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0000035HP:0000035Abnormal testis morphology0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0000035HP:0000035Abnormal testis morphology0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0000035HP:0000035Abnormal testis morphology0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0000035HP:0000035Abnormal testis morphology0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000035HP:0000035Abnormal testis morphology0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0000035HP:0000035Abnormal testis morphology0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000035HP:0000035Abnormal testis morphology0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000035HP:0000035Abnormal testis morphology0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000035HP:0000035Abnormal testis morphology0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0000035HP:0000035Abnormal testis morphology0INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral5
HP:0000035HP:0000035Abnormal testis morphology0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000035HP:0000035Abnormal testis morphology0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0000035HP:0000035Abnormal testis morphology0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0000035HP:0000035Abnormal testis morphology0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000035HP:0000035Abnormal testis morphology0JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0000035HP:0000035Abnormal testis morphology0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0000035HP:0000035Abnormal testis morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000035HP:0000035Abnormal testis morphology0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000035HP:0000035Abnormal testis morphology0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000035HP:0000035Abnormal testis morphology0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000035HP:0000035Abnormal testis morphology0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000035HP:0000035Abnormal testis morphology0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000035HP:0000035Abnormal testis morphology0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome34
HP:0000035HP:0000035Abnormal testis morphology0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0000035HP:0000035Abnormal testis morphology0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0000035HP:0000035Abnormal testis morphology0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0000035HP:0000035Abnormal testis morphology0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant141
HP:0000035HP:0000035Abnormal testis morphology0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0000035HP:0000035Abnormal testis morphology0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0000035HP:0000035Abnormal testis morphology0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0000035HP:0000035Abnormal testis morphology0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0000035HP:0000035Abnormal testis morphology0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasia1
HP:0000035HP:0000035Abnormal testis morphology0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000035HP:0000035Abnormal testis morphology0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000035HP:0000035Abnormal testis morphology0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000035HP:0000035Abnormal testis morphology0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0000035HP:0000035Abnormal testis morphology0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000035HP:0000035Abnormal testis morphology0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000035HP:0000035Abnormal testis morphology0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0000035HP:0000035Abnormal testis morphology0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000035HP:0000035Abnormal testis morphology0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0000035HP:0000035Abnormal testis morphology0KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0000035HP:0000035Abnormal testis morphology0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional4
HP:0000035HP:0000035Abnormal testis morphology0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0000035HP:0000035Abnormal testis morphology0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0000035HP:0000035Abnormal testis morphology0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000035HP:0000035Abnormal testis morphology0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0000035HP:0000035Abnormal testis morphology0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000035HP:0000035Abnormal testis morphology0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0000035HP:0000035Abnormal testis morphology0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0000035HP:0000035Abnormal testis morphology0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000035HP:0000035Abnormal testis morphology0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0000035HP:0000035Abnormal testis morphology0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0000035HP:0000035Abnormal testis morphology0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000035HP:0000035Abnormal testis morphology0KLHL10 CL E G H31771918829ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation3
HP:0000035HP:0000035Abnormal testis morphology0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000035HP:0000035Abnormal testis morphology0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000035HP:0000035Abnormal testis morphology0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0000035HP:0000035Abnormal testis morphology0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0000035HP:0000035Abnormal testis morphology0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000035HP:0000035Abnormal testis morphology0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0000035HP:0000035Abnormal testis morphology0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000035HP:0000035Abnormal testis morphology0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000035HP:0000035Abnormal testis morphology0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0000035HP:0000035Abnormal testis morphology0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000035HP:0000035Abnormal testis morphology0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0000035HP:0000035Abnormal testis morphology0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000035HP:0000035Abnormal testis morphology0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0000035HP:0000035Abnormal testis morphology0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0000035HP:0000035Abnormal testis morphology0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000035HP:0000035Abnormal testis morphology0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction47
HP:0000035HP:0000035Abnormal testis morphology0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0000035HP:0000035Abnormal testis morphology0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0000035HP:0000035Abnormal testis morphology0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000035HP:0000035Abnormal testis morphology0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000035HP:0000035Abnormal testis morphology0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosis13
HP:0000035HP:0000035Abnormal testis morphology0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0000035HP:0000035Abnormal testis morphology0LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious puberty67
HP:0000035HP:0000035Abnormal testis morphology0LHCGR CL E G H39736585OMIM:176410Precocious puberty, male67
HP:0000035HP:0000035Abnormal testis morphology0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndrome
HP:0000035HP:0000035Abnormal testis morphology0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000035HP:0000035Abnormal testis morphology0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndrome43
HP:0000035HP:0000035Abnormal testis morphology0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0000035HP:0000035Abnormal testis morphology0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0000035HP:0000035Abnormal testis morphology0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome88
HP:0000035HP:0000035Abnormal testis morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000035HP:0000035Abnormal testis morphology0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0000035HP:0000035Abnormal testis morphology0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000035HP:0000035Abnormal testis morphology0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0000035HP:0000035Abnormal testis morphology0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0000035HP:0000035Abnormal testis morphology0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0000035HP:0000035Abnormal testis morphology0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000035HP:0000035Abnormal testis morphology0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000035HP:0000035Abnormal testis morphology0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndrome5
HP:0000035HP:0000035Abnormal testis morphology0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000035HP:0000035Abnormal testis morphology0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0000035HP:0000035Abnormal testis morphology0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0000035HP:0000035Abnormal testis morphology0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0000035HP:0000035Abnormal testis morphology0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000035HP:0000035Abnormal testis morphology0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000035HP:0000035Abnormal testis morphology0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000035HP:0000035Abnormal testis morphology0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000035HP:0000035Abnormal testis morphology0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000035HP:0000035Abnormal testis morphology0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0000035HP:0000035Abnormal testis morphology0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0000035HP:0000035Abnormal testis morphology0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000035HP:0000035Abnormal testis morphology0MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadias5
HP:0000035HP:0000035Abnormal testis morphology0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndrome5
HP:0000035HP:0000035Abnormal testis morphology0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000035HP:0000035Abnormal testis morphology0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000035HP:0000035Abnormal testis morphology0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000035HP:0000035Abnormal testis morphology0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndrome178
HP:0000035HP:0000035Abnormal testis morphology0MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesis13
HP:0000035HP:0000035Abnormal testis morphology0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0000035HP:0000035Abnormal testis morphology0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000035HP:0000035Abnormal testis morphology0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000035HP:000