Human Phenotype Ontology 
Grandparent Node:
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External genital hypoplasia (HP:0003241)help
Parent Node:
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Aplasia/Hypoplasia of the testes (HP:0010468)help
Parent Node:
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Hypoplastic male external genitalia (HP:0000050)help
..Starting node
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Decreased testicular size (HP:0008734)help
Term ID: 8734
Name: Decreased testicular size
Synonym: Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia
Definition: Reduced volume of the testicle (the male gonad).
Comments:
Reference: HP:0008734
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplasia of penis (HP:0008736) help
..expandScrotal hypoplasia (HP:0000046) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008734HP:0008734Decreased testicular size0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA11913466211300836
HP:0008734HP:0008734Decreased testicular size0ANOS1 CL E G H3730432ArbovirosisORPHA11913466211300836
HP:0008734HP:0008734Decreased testicular size0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913466211300836
HP:0008734HP:0008734Decreased testicular size0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0008734HP:0008734Decreased testicular size0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0008734HP:0008734Decreased testicular size0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1942905109135
HP:0008734HP:0008734Decreased testicular size0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0008734HP:0008734Decreased testicular size0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA116626821616031
HP:0008734HP:0008734Decreased testicular size0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116626821616031
HP:0008734HP:0008734Decreased testicular size0CDKN1C CL E G H1028436144ORPHA1814711786600856
HP:0008734HP:0008734Decreased testicular size0CFTR CL E G H1080399805ORPHA1182822711884602421
HP:0008734HP:0008734Decreased testicular size0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA1884126620626608892
HP:0008734HP:0008734Decreased testicular size0CHD7 CL E G H55636432ArbovirosisORPHA1884126620626608892
HP:0008734HP:0008734Decreased testicular size0CHRM3 CL E G H11312970Idiopathic diffuse interstitial fibrosisORPHA18891952118494
HP:0008734HP:0008734Decreased testicular size0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0008734HP:0008734Decreased testicular size0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0008734HP:0008734Decreased testicular size0CYB5A CL E G H152890796ORPHA171422570613218
HP:0008734HP:0008734Decreased testicular size0CYP11A1 CL E G H1583168558ORPHA130922590118485
HP:0008734HP:0008734Decreased testicular size0CYP11A1 CL E G H1583289548ORPHA130922590118485
HP:0008734HP:0008734Decreased testicular size0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM11613222591610613
HP:0008734HP:0008734Decreased testicular size0CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0008734HP:0008734Decreased testicular size0CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0008734HP:0008734Decreased testicular size0DAZ1 CL E G H16171646Cutler Bass Romshe syndromeORPHA14972682400003
HP:0008734HP:0008734Decreased testicular size0DAZ2 CL E G H570551646Cutler Bass Romshe syndromeORPHA129615964400026
HP:0008734HP:0008734Decreased testicular size0DAZ3 CL E G H570541646Cutler Bass Romshe syndromeORPHA19715965400027
HP:0008734HP:0008734Decreased testicular size0DAZ4 CL E G H571351646Cutler Bass Romshe syndromeORPHA1198159660
HP:0008734HP:0008734Decreased testicular size0DCAF17 CL E G H800673464ORPHA11817525784612515
HP:0008734HP:0008734Decreased testicular size0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM11817525784612515
HP:0008734HP:0008734Decreased testicular size0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA1411232701120470
HP:0008734HP:0008734Decreased testicular size0DDX3Y CL E G H86531646Cutler Bass Romshe syndromeORPHA11692699400010
HP:0008734HP:0008734Decreased testicular size0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0008734HP:0008734Decreased testicular size0DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0008734HP:0008734Decreased testicular size0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM165530528608977
HP:0008734HP:0008734Decreased testicular size0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA15243072602748
HP:0008734HP:0008734Decreased testicular size0DUSP6 CL E G H1848432ArbovirosisORPHA15243072602748
HP:0008734HP:0008734Decreased testicular size0DUSP6 CL E G H1848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15243072602748
HP:0008734HP:0008734Decreased testicular size0FAM111A CL E G H6390193325ORPHA194124725615292
HP:0008734HP:0008734Decreased testicular size0FANCM CL E G H57697399805ORPHA15369723168609644
HP:0008734HP:0008734Decreased testicular size0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0008734HP:0008734Decreased testicular size0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA134122788613301
HP:0008734HP:0008734Decreased testicular size0FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM134122788613301
HP:0008734HP:0008734Decreased testicular size0FEZF1 CL E G H389549146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM134122788613301
HP:0008734HP:0008734Decreased testicular size0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA15823673603725
HP:0008734HP:0008734Decreased testicular size0FGF17 CL E G H8822432ArbovirosisORPHA15823673603725
HP:0008734HP:0008734Decreased testicular size0FGF17 CL E G H8822146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15823673603725
HP:0008734HP:0008734Decreased testicular size0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA141543686600483
HP:0008734HP:0008734Decreased testicular size0FGF8 CL E G H2253432ArbovirosisORPHA141543686600483
HP:0008734HP:0008734Decreased testicular size0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA12653883688136350
HP:0008734HP:0008734Decreased testicular size0FGFR1 CL E G H2260432ArbovirosisORPHA12653883688136350
HP:0008734HP:0008734Decreased testicular size0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA17413762604808
HP:0008734HP:0008734Decreased testicular size0FLRT3 CL E G H23767146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM17413762604808
HP:0008734HP:0008734Decreased testicular size0FMR1 CL E G H2332261483ORPHA1812813775309550
HP:0008734HP:0008734Decreased testicular size0FSHB CL E G H248852901ORPHA19613964136530
HP:0008734HP:0008734Decreased testicular size0FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM19613964136530
HP:0008734HP:0008734Decreased testicular size0GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0008734HP:0008734Decreased testicular size0GLI2 CL E G H273695494ORPHA1883724318165230
HP:0008734HP:0008734Decreased testicular size0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM12445374319165240
HP:0008734HP:0008734Decreased testicular size0GNRH1 CL E G H2796432ArbovirosisORPHA112974419152760
HP:0008734HP:0008734Decreased testicular size0GNRH1 CL E G H2796146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM112974419152760
HP:0008734HP:0008734Decreased testicular size0GNRHR CL E G H2798432ArbovirosisORPHA1591584421138850
HP:0008734HP:0008734Decreased testicular size0GNRHR CL E G H2798146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1591584421138850
HP:0008734HP:0008734Decreased testicular size0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0008734HP:0008734Decreased testicular size0HESX1 CL E G H882095494ORPHA127464877601802
HP:0008734HP:0008734Decreased testicular size0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA127464877601802
HP:0008734HP:0008734Decreased testicular size0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA18335201604846
HP:0008734HP:0008734Decreased testicular size0HS6ST1 CL E G H9394432ArbovirosisORPHA18335201604846
HP:0008734HP:0008734Decreased testicular size0HSD3B2 CL E G H328490791ORPHA163925218613890
HP:0008734HP:0008734Decreased testicular size0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0008734HP:0008734Decreased testicular size0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA1144917616606807
HP:0008734HP:0008734Decreased testicular size0IL17RD CL E G H54756146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1144917616606807
HP:0008734HP:0008734Decreased testicular size0KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0008734HP:0008734Decreased testicular size0KISS1 CL E G H3814432ArbovirosisORPHA115256341603286
HP:0008734HP:0008734Decreased testicular size0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA139784510604161
HP:0008734HP:0008734Decreased testicular size0KISS1R CL E G H84634432ArbovirosisORPHA139784510604161
HP:0008734HP:0008734Decreased testicular size0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM139784510604161
HP:0008734HP:0008734Decreased testicular size0KLHL10 CL E G H317719399805ORPHA131318829608778
HP:0008734HP:0008734Decreased testicular size0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0008734HP:0008734Decreased testicular size0LEP CL E G H395266628ORPHA1271056553164160
HP:0008734HP:0008734Decreased testicular size0LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM1271056553164160
HP:0008734HP:0008734Decreased testicular size0LEPR CL E G H3953179494ORPHA1441446554601007
HP:0008734HP:0008734Decreased testicular size0LHCGR CL E G H3973176410Gonadotropin-independent familial sexual precocity176410C0342549OMIM1811336585152790
HP:0008734HP:0008734Decreased testicular size0LHX4 CL E G H8988495494ORPHA12311621734602146
HP:0008734HP:0008734Decreased testicular size0MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0008734HP:0008734Decreased testicular size0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0008734HP:0008734Decreased testicular size0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0008734HP:0008734Decreased testicular size0MCM8 CL E G H84515612885Premature ovarian failure 10612885C2752067OMIM1104316147608187
HP:0008734HP:0008734Decreased testicular size0MEIOB CL E G H254528399805ORPHA115128569617670
HP:0008734HP:0008734Decreased testicular size0NANOS1 CL E G H340719399805ORPHA133423044608226
HP:0008734HP:0008734Decreased testicular size0NANOS1 CL E G H340719399808Male infertility with teratozoospermia due to single gene mutationCN252642ORPHA133423044608226
HP:0008734HP:0008734Decreased testicular size0NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0008734HP:0008734Decreased testicular size0NR0B1 CL E G H190393TungiasisORPHA12552707960300473
HP:0008734HP:0008734Decreased testicular size0NR5A1 CL E G H2516399805ORPHA11891057983184757
HP:0008734HP:0008734Decreased testicular size0NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0008734HP:0008734Decreased testicular size0NR5A1 CL E G H2516393TungiasisORPHA11891057983184757
HP:0008734HP:0008734Decreased testicular size0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA1910429843608137
HP:0008734HP:0008734Decreased testicular size0NSMF CL E G H26012432ArbovirosisORPHA1910429843608137
HP:0008734HP:0008734Decreased testicular size0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0008734HP:0008734Decreased testicular size0OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0008734HP:0008734Decreased testicular size0OTX2 CL E G H501595494ORPHA178988522600037
HP:0008734HP:0008734Decreased testicular size0PHF6 CL E G H84295127ORPHA12923518145300414
HP:0008734HP:0008734Decreased testicular size0PHF8 CL E G H2313385287ORPHA11620820672300560
HP:0008734HP:0008734Decreased testicular size0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0008734HP:0008734Decreased testicular size0POLR3B CL E G H55703146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15812730348614366
HP:0008734HP:0008734Decreased testicular size0POR CL E G H544795699ORPHA1922259208124015
HP:0008734HP:0008734Decreased testicular size0POU1F1 CL E G H544995494ORPHA146729210173110
HP:0008734HP:0008734Decreased testicular size0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0008734HP:0008734Decreased testicular size0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA1213418455607002
HP:0008734HP:0008734Decreased testicular size0PROK2 CL E G H60675432ArbovirosisORPHA1213418455607002
HP:0008734HP:0008734Decreased testicular size0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM1213418455607002
HP:0008734HP:0008734Decreased testicular size0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA1839815836607123
HP:0008734HP:0008734Decreased testicular size0PROKR2 CL E G H128674432ArbovirosisORPHA1839815836607123
HP:0008734HP:0008734Decreased testicular size0PROP1 CL E G H562690695ORPHA1421509455601538
HP:0008734HP:0008734Decreased testicular size0PROP1 CL E G H562695494ORPHA1421509455601538
HP:0008734HP:0008734Decreased testicular size0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0008734HP:0008734Decreased testicular size0RBMY1A1 CL E G H59401646Cutler Bass Romshe syndromeORPHA11829912400006
HP:0008734HP:0008734Decreased testicular size0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0008734HP:0008734Decreased testicular size0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0008734HP:0008734Decreased testicular size0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM161721679609595
HP:0008734HP:0008734Decreased testicular size0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0008734HP:0008734Decreased testicular size0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA1318210723603961
HP:0008734HP:0008734Decreased testicular size0SEMA3E CL E G H9723146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1416010727608166
HP:0008734HP:0008734Decreased testicular size0SLC29A3 CL E G H55315168569ORPHA12619023096612373
HP:0008734HP:0008734Decreased testicular size0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0008734HP:0008734Decreased testicular size0SOHLH1 CL E G H402381399805ORPHA1106527845610224
HP:0008734HP:0008734Decreased testicular size0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA115119211190602229
HP:0008734HP:0008734Decreased testicular size0SOX3 CL E G H665890695ORPHA12821811199313430
HP:0008734HP:0008734Decreased testicular size0SOX3 CL E G H6658393TungiasisORPHA12821811199313430
HP:0008734HP:0008734Decreased testicular size0SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0008734HP:0008734Decreased testicular size0SOX9 CL E G H6662393TungiasisORPHA114915511204608160
HP:0008734HP:0008734Decreased testicular size0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA1113315533607984
HP:0008734HP:0008734Decreased testicular size0SPRY4 CL E G H81848432ArbovirosisORPHA1113315533607984
HP:0008734HP:0008734Decreased testicular size0SPRY4 CL E G H81848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1113315533607984
HP:0008734HP:0008734Decreased testicular size0SRA1 CL E G H10011146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM162811281603819
HP:0008734HP:0008734Decreased testicular size0SRY CL E G H6736251510ORPHA11099611311480000
HP:0008734HP:0008734Decreased testicular size0SRY CL E G H6736393TungiasisORPHA11099611311480000
HP:0008734HP:0008734Decreased testicular size0SYCE1 CL E G H93426399805ORPHA1316328852611486
HP:0008734HP:0008734Decreased testicular size0SYCP3 CL E G H50511399805ORPHA153618130604759
HP:0008734HP:0008734Decreased testicular size0TAC3 CL E G H6866432ArbovirosisORPHA1101911521162330
HP:0008734HP:0008734Decreased testicular size0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA1377911528162332
HP:0008734HP:0008734Decreased testicular size0TACR3 CL E G H6870432ArbovirosisORPHA1377911528162332
HP:0008734HP:0008734Decreased testicular size0TACR3 CL E G H6870614840Hypogonadotropic hypogonadism 11 with or without anosmia614840C3553844OMIM1377911528162332
HP:0008734HP:0008734Decreased testicular size0TAF4B CL E G H6875399805ORPHA115011538601689
HP:0008734HP:0008734Decreased testicular size0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0008734HP:0008734Decreased testicular size0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0008734HP:0008734Decreased testicular size0TDRD9 CL E G H122402399805ORPHA126620122617963
HP:0008734HP:0008734Decreased testicular size0TEX11 CL E G H56159399805ORPHA11014811733300311
HP:0008734HP:0008734Decreased testicular size0TEX15 CL E G H56154399805ORPHA1129911738605795
HP:0008734HP:0008734Decreased testicular size0TEX15 CL E G H56154617960SPERMATOGENIC FAILURE 25617960CN244572OMIM1129911738605795
HP:0008734HP:0008734Decreased testicular size0TSPY1 CL E G H72581646Cutler Bass Romshe syndromeORPHA115812381480100
HP:0008734HP:0008734Decreased testicular size0USP9Y CL E G H82871646Cutler Bass Romshe syndromeORPHA147612633400005
HP:0008734HP:0008734Decreased testicular size0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0008734HP:0008734Decreased testicular size0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA1189113831606417
HP:0008734HP:0008734Decreased testicular size0WDR11 CL E G H55717432ArbovirosisORPHA1189113831606417
HP:0008734HP:0008734Decreased testicular size0WDR11 CL E G H55717146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1189113831606417
HP:0008734HP:0008734Decreased testicular size0WT1 CL E G H7490251510ORPHA118463512796607102
HP:0008734HP:0008734Decreased testicular size0WWOX CL E G H51741251510ORPHA15059612799605131
HP:0008734HP:0008734Decreased testicular size0XRCC2 CL E G H7516399805ORPHA12335812829600375
HP:0008734HP:0008734Decreased testicular size0ZFPM2 CL E G H23414251510ORPHA15214216700603693
HP:0008734HP:0008734Decreased testicular size0ZMYND15 CL E G H84225399805ORPHA113920997614312
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008734HP:0008734Decreased testicular size0ALMS1 CL E G H784064ORPHA03161745428606844
HP:0008734HP:0008734Decreased testicular size0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM078415685605517
HP:0008734HP:0008734Decreased testicular size0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM012472498604927
HP:0008734HP:0008734Decreased testicular size0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0008734HP:0008734Decreased testicular size0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0008734HP:0008734Decreased testicular size0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0008734HP:0008734Decreased testicular size0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0008734HP:0008734Decreased testicular size0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0008734HP:0008734Decreased testicular size0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0008734HP:0008734Decreased testicular size0GBA2 CL E G H57704320391ORPHA02319418986609471
HP:0008734HP:0008734Decreased testicular size0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0008734HP:0008734Decreased testicular size0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0008734HP:0008734Decreased testicular size0KDM5C CL E G H824285279ORPHA05632711114314690
HP:0008734HP:0008734Decreased testicular size0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM05632711114314690
HP:0008734HP:0008734Decreased testicular size0SATB2 CL E G H23314251019ORPHA010627421637608148
HP:0008734HP:0008734Decreased testicular size0WDR11 CL E G H55717614858Hypogonadotropic hypogonadism 14 with or without anosmia614858C3540450OMIM0189113831606417
HP:0008734HP:0008734Decreased testicular size0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0008734HP:0008734Decreased testicular size0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208


Genes (127) :ALMS1 ANOS1 ARX ATRX AXL B4GAT1 BBS1 CCDC141 CDKN1C CFTR CHD7 CHRM3 CTDP1 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DDB2 DDX3Y DKC1 DMRT3 DNAJC19 DUSP6 ERCC2 ERCC3 ERCC4 ERCC5 FAM111A FANCM FBN1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FSHB GATA4 GBA2 GLI2 GLI3 GNRH1 GNRHR HDAC8 HESX1 HS6ST1 HSD3B2 HSPG2 IL17RD KCNJ6 KDM5C KISS1 KISS1R KLHL10 LAS1L LEP LEPR LHCGR LHX4 MAP3K1 MAP3K7 MBTPS2 MCM8 MEIOB NANOS1 NR0B1 NR5A1 NSMF OGT OTX2 PHF6 PHF8 PHGDH POLR3B POR POU1F1 PQBP1 PROK2 PROKR2 PROP1 RAB18 RBMY1A1 RLIM RPL10 RSPO1 SAMD9 SATB2 SEMA3A SEMA3E SLC29A3 SLC39A4 SOHLH1 SOX10 SOX3 SOX9 SPRY4 SRA1 SRY SYCE1 SYCP3 TAC3 TACR3 TAF4B TBC1D20 TCTN3 TDRD9 TEX11 TEX15 TSPY1 USP9Y VAMP7 WDR11 WT1 WWOX XPA XPC XRCC2 ZFPM2 ZMYND15

Diseases (78) :64 478 432 308700 300215 309580 146110 615287 209900 436144 399805 2970 604168 85293 300354 273750 90796 168558 289548 202010 90793 1646 3464 241080 910 305000 251510 610198 93325 284979 616030 261483 52901 229070 320391 95494 672 146510 300882 90791 800 255800 435628 85279 300534 614837 309585 66628 614962 179494 176410 157800 85284 612885 399808 393 614838 300997 127 85287 601815 95699 309500 610628 90695 614222 300978 300998 610644 617053 251019 168569 201100 614840 615663 2753 617960 614858
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.