Abnormality of the testis

Symptom Information:

Symptom ID: HPO:0000035
Testis anomaly [Orphanet:39360]
Testis anomalies [Orphanet:39360]
Cross references:
Orphanet:39360 "Testis anomalies" [Orphanet:39360]
Is a (Direct Parents):
HPO         Abnormality of male internal genitalia
HPO         Vanishing testis
HPO         Abnormality of the testis size
HPO         Testicular fibrosis
Orphanet Structural anomalies of the genital system
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormal internal genitalia(HPO:0000812)
                   Abnormality of male internal genitalia(HPO:0000022)
                      Abnormality of the testis(HPO:0000035)
                Abnormality of the male genitalia(HPO:0010461)
                   Abnormality of male internal genitalia(HPO:0000022)
                      Abnormality of the testis(HPO:0000035)
Database Frequency: 296 / 7739

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17q12 microdeletion syndrome (Orphanet:261265)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
22q11.2 deletion syndrome (Orphanet:567)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
3q13 microdeletion syndrome (Orphanet:1621)
46,XX ovotesticular disorder of sex development (Orphanet:2138)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (Orphanet:752)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (Orphanet:753)
46,XY partial gonadal dysgenesis (Orphanet:251510)
48,XXXY syndrome (Orphanet:96263)
49,XXXXY syndrome (Orphanet:96264)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
Aarskog-Scott syndrome (Orphanet:915)
Ablepharon macrostomia syndrome (Orphanet:920)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acrocallosal syndrome (Orphanet:36)
Acrodysostosis (Orphanet:950)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Alagille syndrome (Orphanet:52)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alström syndrome (Orphanet:64)
Androgen insensitivity syndrome (Orphanet:754)
Aniridia - absent patella (Orphanet:1069)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive amelia (Orphanet:1027)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BRESEK syndrome (Orphanet:85284)
Bangstad syndrome (Orphanet:1227)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Boomerang dysplasia (Orphanet:1263)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Bowen-Conradi syndrome (Orphanet:1270)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
C syndrome (Orphanet:1308)
CHARGE syndrome (Orphanet:138)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Caudal duplication (Orphanet:1756)
Caudal regression sequence (Orphanet:3027)
Cerebellar ataxia - ectodermal dysplasia (Orphanet:1174)
Cockayne syndrome (Orphanet:191)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Complete androgen insensitivity syndrome (Orphanet:99429)
Congenital adrenal hyperplasia (Orphanet:418)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Crane-Heise syndrome (Orphanet:1512)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Desmoplastic small round cell tumor (Orphanet:83469)
Diabetic embryopathy (Orphanet:1926)
Diastrophic dwarfism (Orphanet:628)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 18q (Orphanet:1716)
Dubowitz syndrome (Orphanet:235)
Dyskeratosis congenita (Orphanet:1775)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Ellis Van Creveld syndrome (Orphanet:289)
Endomyocardial fibroelastosis (Orphanet:2022)
Eyebrow duplication - syndactyly (Orphanet:3172)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Fanconi anemia (Orphanet:84)
Femoral-facial syndrome (Orphanet:1988)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal minoxidil syndrome (Orphanet:1918)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Filippi syndrome (Orphanet:3255)
Fine-Lubinsky syndrome (Orphanet:1272)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Fraser syndrome (Orphanet:2052)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fryns syndrome (Orphanet:2059)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Hallermann-Streiff syndrome (Orphanet:2108)
Harrod syndrome (Orphanet:2115)
Heart defect - tongue hamartoma - polysyndactyly (Orphanet:1338)
Heart-hand syndrome type 2 (Orphanet:1350)
Hemihypertrophy (Orphanet:2128)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Hydrocephalus - obesity - hypogonadism (Orphanet:2183)
Hydrolethalus (Orphanet:2189)
Hypertelorism, Teebi type (Orphanet:1519)
Hypogonadotropic hypogonadism - frontoparietal alopecia (Orphanet:2230)
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism (Orphanet:2250)
IMAGe syndrome (Orphanet:85173)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked - short stature - obesity (Orphanet:3055)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intellectual deficit, X-linked, Siderius type (Orphanet:85287)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated glycerol kinase deficiency (Orphanet:408)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juvenile polyposis syndrome (Orphanet:2929)
KBG syndrome (Orphanet:2332)
KID syndrome (Orphanet:477)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kallmann syndrome - heart disease (Orphanet:2326)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Koolen-De Vries syndrome (Orphanet:96169)
LIG4 syndrome (Orphanet:99812)
Lateral meningocele syndrome (Orphanet:2789)
Laurence-Moon syndrome (Orphanet:2377)
Laurin-Sandrow syndrome (Orphanet:2378)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lowry-MacLean syndrome (Orphanet:2409)
MEHMO syndrome (Orphanet:85282)
MMEP syndrome (Orphanet:3434)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
Meacham syndrome (Orphanet:3097)
Meckel syndrome (Orphanet:564)
Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet:2241)
Melhem-Fahl syndrome (Orphanet:2482)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 14 (Orphanet:1703)
Mosaic trisomy 8 (Orphanet:96061)
Mosaic trisomy 9 (Orphanet:99776)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple non-ossifying fibromatosis (Orphanet:2029)
Myhre syndrome (Orphanet:2588)
N syndrome (Orphanet:2608)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Non-distal trisomy 10q (Orphanet:1695)
Non-distal trisomy 13q (Orphanet:1702)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Norrie disease (Orphanet:649)
Ochoa syndrome (Orphanet:2704)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrorenal syndrome (Orphanet:534)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Osteocraniostenosis (Orphanet:2763)
Osteoglophonic dwarfism (Orphanet:2645)
Otopalatodigital syndrome (Orphanet:669)
PELVIS syndrome (Orphanet:83628)
Pallister-Hall syndrome (Orphanet:672)
Perlman syndrome (Orphanet:2849)
Persistent Müllerian duct syndrome (Orphanet:2856)
Peters-plus syndrome (Orphanet:709)
Phocomelia, Schinzel type (Orphanet:2879)
Pitt-Hopkins syndrome (Orphanet:2896)
Pituitary stalk interruption syndrome (Orphanet:95496)
Polydactyly-myopia syndrome (Orphanet:2917)
Prader-Willi syndrome (Orphanet:739)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Prune belly syndrome (Orphanet:2970)
Qazi-Markouizos syndrome (Orphanet:3010)
Recessive X-linked ichthyosis (Orphanet:461)
Recombinant 8 syndrome (Orphanet:96167)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Roberts syndrome (Orphanet:3103)
Rubinstein-Taybi syndrome (Orphanet:783)
Ruvalcaba syndrome (Orphanet:3121)
Saethre-Chotzen syndrome (Orphanet:794)
Sanjad-Sakati syndrome (Orphanet:2323)
Say-Barber-Miller syndrome (Orphanet:3132)
Schinzel-Giedion syndrome (Orphanet:798)
Schneckenbecken dysplasia (Orphanet:3144)
Septo-optic dysplasia (Orphanet:3157)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Steinert myotonic dystrophy (Orphanet:273)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
Summitt syndrome (Orphanet:3210)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
TARP syndrome (Orphanet:2886)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetralogy of Fallot (Orphanet:3303)
Toluene embryopathy (Orphanet:1920)
Toriello-Carey syndrome (Orphanet:3338)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Townes-Brocks syndrome (Orphanet:857)
Treacher-Collins syndrome (Orphanet:861)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy 8q (Orphanet:1752)
Trisomy Xq28 (Orphanet:1762)
Ulnar-mammary syndrome (Orphanet:3138)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
VACTERL with hydrocephalus (Orphanet:3412)
VACTERL/VATER association (Orphanet:887)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Verloove Vanhorick-Brubakk syndrome (Orphanet:3429)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
WAGR syndrome (Orphanet:893)
WT limb-blood syndrome (Orphanet:3466)
Walker-Warburg syndrome (Orphanet:899)
Weaver syndrome (Orphanet:3447)
Werner syndrome (Orphanet:902)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Xeroderma pigmentosum (Orphanet:910)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Zellweger syndrome (Orphanet:912)