Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the penis (HP:0000036)help
Grandparent Node:
expand
Abnormality of the urethra (HP:0000795)help
Parent Node:
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Displacement of the urethral meatus (HP:0100627)help
..Starting node
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Hypospadias (HP:0000047)help
Term ID: 47
Name: Hypospadias
Synonym: Hypospadia
Definition: Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Comments:
Reference: HP:0000047
Genes and Diseases:
 
       Child Nodes:
........expandPerineal hypospadias (HP:0000051) help
........expandGlandular hypospadias (HP:0000807) help
........expandPenoscrotal hypospadias (HP:0000808) help
........expandPenile hypospadias (HP:0003244) help
........expandCoronal hypospadias (HP:0008743) help
........expandScrotal hypospadias (HP:0012853) help
........expandMidshaft hypospadias (HP:0012854) help

 Sister Nodes: 
..expandAnteriorly displaced urethral meatus (HP:0008648) help
..expandEpispadias (HP:0000039) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000047HP:0000047Hypospadias0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000047HP:0000047Hypospadias0AR CL E G H36790797ORPHA1627400644313700
HP:0000047HP:0000047Hypospadias0AR CL E G H367440ORPHA1627400644313700
HP:0000047HP:0000047Hypospadias0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000047HP:0000047Hypospadias0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000047HP:0000047Hypospadias0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000047HP:0000047Hypospadias0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0000047HP:0000047Hypospadias0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000047HP:0000047Hypospadias0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000047HP:0000047Hypospadias0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000047HP:0000047Hypospadias0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000047HP:0000047Hypospadias0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000047HP:0000047Hypospadias0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM144028636611951
HP:0000047HP:0000047Hypospadias0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0000047HP:0000047Hypospadias0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000047HP:0000047Hypospadias0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000047HP:0000047Hypospadias0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000047HP:0000047Hypospadias0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0000047HP:0000047Hypospadias0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000047HP:0000047Hypospadias0CDKN1C CL E G H102885173ORPHA1814711786600856
HP:0000047HP:0000047Hypospadias0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000047HP:0000047Hypospadias0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000047HP:0000047Hypospadias0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0000047HP:0000047Hypospadias0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000047HP:0000047Hypospadias0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000047HP:0000047Hypospadias0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000047HP:0000047Hypospadias0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0000047HP:0000047Hypospadias0CYB5A CL E G H152890796ORPHA171422570613218
HP:0000047HP:0000047Hypospadias0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM171422570613218
HP:0000047HP:0000047Hypospadias0CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0000047HP:0000047Hypospadias0CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0000047HP:0000047Hypospadias0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM13031982600613815
HP:0000047HP:0000047Hypospadias0DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM185017748607861
HP:0000047HP:0000047Hypospadias0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000047HP:0000047Hypospadias0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0000047HP:0000047Hypospadias0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000047HP:0000047Hypospadias0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0000047HP:0000047Hypospadias0DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000047HP:0000047Hypospadias0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM165530528608977
HP:0000047HP:0000047Hypospadias0DYNC2LI1 CL E G H51626289ORPHA11417324595617083
HP:0000047HP:0000047Hypospadias0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000047HP:0000047Hypospadias0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000047HP:0000047Hypospadias0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000047HP:0000047Hypospadias0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000047HP:0000047Hypospadias0EVC CL E G H2121289ORPHA1846523497604831
HP:0000047HP:0000047Hypospadias0EVC CL E G H2121225500Chondroectodermal dysplasia225500C0013903OMIM1846523497604831
HP:0000047HP:0000047Hypospadias0EVC2 CL E G H132884289ORPHA17656719747607261
HP:0000047HP:0000047Hypospadias0EVC2 CL E G H132884225500Chondroectodermal dysplasia225500C0013903OMIM17656719747607261
HP:0000047HP:0000047Hypospadias0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000047HP:0000047Hypospadias0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0000047HP:0000047Hypospadias0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000047HP:0000047Hypospadias0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000047HP:0000047Hypospadias0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000047HP:0000047Hypospadias0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000047HP:0000047Hypospadias0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000047HP:0000047Hypospadias0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000047HP:0000047Hypospadias0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000047HP:0000047Hypospadias0FZD2 CL E G H2535164745Omodysplasia 2164745C2750355OMIM17304040600667
HP:0000047HP:0000047Hypospadias0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000047HP:0000047Hypospadias0GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000047HP:0000047Hypospadias0GLI1 CL E G H2735289ORPHA111334317165220
HP:0000047HP:0000047Hypospadias0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000047HP:0000047Hypospadias0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000047HP:0000047Hypospadias0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0000047HP:0000047Hypospadias0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000047HP:0000047Hypospadias0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000047HP:0000047Hypospadias0HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM124048811630189907
HP:0000047HP:0000047Hypospadias0HOXA13 CL E G H32092438ORPHA130635102142959
HP:0000047HP:0000047Hypospadias0HOXA13 CL E G H3209140000Hand foot uterus syndrome140000C1841679OMIM130635102142959
HP:0000047HP:0000047Hypospadias0HSD3B2 CL E G H32842018103 beta-Hydroxysteroid dehydrogenase deficiency201810C0342471OMIM163925218613890
HP:0000047HP:0000047Hypospadias0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM1212226558610693
HP:0000047HP:0000047Hypospadias0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000047HP:0000047Hypospadias0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0000047HP:0000047Hypospadias0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0000047HP:0000047Hypospadias0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000047HP:0000047Hypospadias0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000047HP:0000047Hypospadias0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0000047HP:0000047Hypospadias0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000047HP:0000047Hypospadias0MAMLD1 CL E G H10046440ORPHA1202112568300120
HP:0000047HP:0000047Hypospadias0MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000047HP:0000047Hypospadias0MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM1331076848600982
HP:0000047HP:0000047Hypospadias0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000047HP:0000047Hypospadias0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000047HP:0000047Hypospadias0MECP2 CL E G H42041762ORPHA1105014426990300005
HP:0000047HP:0000047Hypospadias0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000047HP:0000047Hypospadias0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000047HP:0000047Hypospadias0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0000047HP:0000047Hypospadias0MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0000047HP:0000047Hypospadias0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0000047HP:0000047Hypospadias0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000047HP:0000047Hypospadias0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000047HP:0000047Hypospadias0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000047HP:0000047Hypospadias0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000047HP:0000047Hypospadias0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000047HP:0000047Hypospadias0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000047HP:0000047Hypospadias0NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H25162138ORPHA11891057983184757
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000047HP:0000047Hypospadias0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000047HP:0000047Hypospadias0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0000047HP:0000047Hypospadias0OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000047HP:0000047Hypospadias0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000047HP:0000047Hypospadias0PAX6 CL E G H5080194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM15714968620607108
HP:0000047HP:0000047Hypospadias0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000047HP:0000047Hypospadias0PDE4D CL E G H5144280651ORPHA1452318783600129
HP:0000047HP:0000047Hypospadias0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM1452318783600129
HP:0000047HP:0000047Hypospadias0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000047HP:0000047Hypospadias0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000047HP:0000047Hypospadias0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000047HP:0000047Hypospadias0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000047HP:0000047Hypospadias0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000047HP:0000047Hypospadias0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000047HP:0000047Hypospadias0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000047HP:0000047Hypospadias0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000047HP:0000047Hypospadias0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000047HP:0000047Hypospadias0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000047HP:0000047Hypospadias0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000047HP:0000047Hypospadias0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000047HP:0000047Hypospadias0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000047HP:0000047Hypospadias0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000047HP:0000047Hypospadias0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000047HP:0000047Hypospadias0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0000047HP:0000047Hypospadias0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000047HP:0000047Hypospadias0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000047HP:0000047Hypospadias0PRKAR1A CL E G H5573280651ORPHA11884519388188830
HP:0000047HP:0000047Hypospadias0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000047HP:0000047Hypospadias0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000047HP:0000047Hypospadias0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000047HP:0000047Hypospadias0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000047HP:0000047Hypospadias0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000047HP:0000047Hypospadias0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0000047HP:0000047Hypospadias0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000047HP:0000047Hypospadias0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000047HP:0000047Hypospadias0RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0000047HP:0000047Hypospadias0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0000047HP:0000047Hypospadias0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0000047HP:0000047Hypospadias0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM161721679609595
HP:0000047HP:0000047Hypospadias0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0000047HP:0000047Hypospadias0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000047HP:0000047Hypospadias0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000047HP:0000047Hypospadias0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0000047HP:0000047Hypospadias0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000047HP:0000047Hypospadias0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000047HP:0000047Hypospadias0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000047HP:0000047Hypospadias0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000047HP:0000047Hypospadias0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000047HP:0000047Hypospadias0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000047HP:0000047Hypospadias0SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000047HP:0000047Hypospadias0SOX9 CL E G H66622138ORPHA114915511204608160
HP:0000047HP:0000047Hypospadias0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000047HP:0000047Hypospadias0SRY CL E G H6736251510ORPHA11099611311480000
HP:0000047HP:0000047Hypospadias0SRY CL E G H67362138ORPHA11099611311480000
HP:0000047HP:0000047Hypospadias0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000047HP:0000047Hypospadias0STAR CL E G H6770201710Cholesterol monooxygenase (side-chain cleaving) deficiency201710C0342474OMIM18515811359600617
HP:0000047HP:0000047Hypospadias0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000047HP:0000047Hypospadias0TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000047HP:0000047Hypospadias0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000047HP:0000047Hypospadias0TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0000047HP:0000047Hypospadias0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0000047HP:0000047Hypospadias0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000047HP:0000047Hypospadias0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112828215979603273
HP:0000047HP:0000047Hypospadias0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0000047HP:0000047Hypospadias0TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0000047HP:0000047Hypospadias0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM1535112469314370
HP:0000047HP:0000047Hypospadias0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0000047HP:0000047Hypospadias0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000047HP:0000047Hypospadias0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000047HP:0000047Hypospadias0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000047HP:0000047Hypospadias0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0000047HP:0000047Hypospadias0WNT4 CL E G H54361139466ORPHA182912783603490
HP:0000047HP:0000047Hypospadias0WNT4 CL E G H54361611812Serkal syndrome611812C2678492OMIM182912783603490
HP:0000047HP:0000047Hypospadias0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0000047HP:0000047Hypospadias0WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000047HP:0000047Hypospadias0WT1 CL E G H7490194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM118463512796607102
HP:0000047HP:0000047Hypospadias0WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000047HP:0000047Hypospadias0ZFPM2 CL E G H23414251510ORPHA15214216700603693
HP:0000047HP:0000047Hypospadias0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000047HP:0000047Hypospadias1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000047HP:0000047Hypospadias1AR CL E G H367440ORPHA1627400644313700
HP:0000047HP:0000047Hypospadias1AR CL E G H36790797ORPHA1627400644313700
HP:0000047HP:0000047Hypospadias1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000047HP:0000047Hypospadias1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000047HP:0000047Hypospadias1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000047HP:0000047Hypospadias1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0000047HP:0000047Hypospadias1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000047HP:0000047Hypospadias1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000047HP:0000047Hypospadias1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000047HP:0000047Hypospadias1B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000047HP:0000047Hypospadias1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000047HP:0000047Hypospadias1B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM144028636611951
HP:0000047HP:0000047Hypospadias1BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0000047HP:0000047Hypospadias1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000047HP:0000047Hypospadias1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000047HP:0000047Hypospadias1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000047HP:0000047Hypospadias1CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0000047HP:0000047Hypospadias1CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000047HP:0000047Hypospadias1CDKN1C CL E G H102885173ORPHA1814711786600856
HP:0000047HP:0000047Hypospadias1CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000047HP:0000047Hypospadias1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000047HP:0000047Hypospadias1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0000047HP:0000047Hypospadias1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000047HP:0000047Hypospadias1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000047HP:0000047Hypospadias1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000047HP:0000047Hypospadias1CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0000047HP:0000047Hypospadias1CYB5A CL E G H152890796ORPHA171422570613218
HP:0000047HP:0000047Hypospadias1CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM171422570613218
HP:0000047HP:0000047Hypospadias1CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0000047HP:0000047Hypospadias1CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0000047HP:0000047Hypospadias1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM13031982600613815
HP:0000047HP:0000047Hypospadias1DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM185017748607861
HP:0000047HP:0000047Hypospadias1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000047HP:0000047Hypospadias1DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0000047HP:0000047Hypospadias1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000047HP:0000047Hypospadias1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0000047HP:0000047Hypospadias1DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000047HP:0000047Hypospadias1DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM165530528608977
HP:0000047HP:0000047Hypospadias1DYNC2LI1 CL E G H51626289ORPHA11417324595617083
HP:0000047HP:0000047Hypospadias1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000047HP:0000047Hypospadias1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000047HP:0000047Hypospadias1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000047HP:0000047Hypospadias1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000047HP:0000047Hypospadias1EVC CL E G H2121289ORPHA1846523497604831
HP:0000047HP:0000047Hypospadias1EVC CL E G H2121225500Chondroectodermal dysplasia225500C0013903OMIM1846523497604831
HP:0000047HP:0000047Hypospadias1EVC2 CL E G H132884289ORPHA17656719747607261
HP:0000047HP:0000047Hypospadias1EVC2 CL E G H132884225500Chondroectodermal dysplasia225500C0013903OMIM17656719747607261
HP:0000047HP:0000047Hypospadias1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000047HP:0000047Hypospadias1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0000047HP:0000047Hypospadias1FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000047HP:0000047Hypospadias1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000047HP:0000047Hypospadias1FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000047HP:0000047Hypospadias1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000047HP:0000047Hypospadias1FLNA CL E G H231690652ORPHA127114723754300017
HP:0000047HP:0000047Hypospadias1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000047HP:0000047Hypospadias1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000047HP:0000047Hypospadias1FZD2 CL E G H2535164745Omodysplasia 2164745C2750355OMIM17304040600667
HP:0000047HP:0000047Hypospadias1GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000047HP:0000047Hypospadias1GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000047HP:0000047Hypospadias1GLI1 CL E G H2735289ORPHA111334317165220
HP:0000047HP:0000047Hypospadias1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000047HP:0000047Hypospadias1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000047HP:0000047Hypospadias1H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM138494713103280
HP:0000047HP:0000047Hypospadias1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000047HP:0000047Hypospadias1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000047HP:0000047Hypospadias1HNF1B CL E G H6928137920Familial hypoplastic, glomerulocystic kidney137920C0431693OMIM124048811630189907
HP:0000047HP:0000047Hypospadias1HOXA13 CL E G H32092438ORPHA130635102142959
HP:0000047HP:0000047Hypospadias1HOXA13 CL E G H3209140000Hand foot uterus syndrome140000C1841679OMIM130635102142959
HP:0000047HP:0000047Hypospadias1HSD3B2 CL E G H32842018103 beta-Hydroxysteroid dehydrogenase deficiency201810C0342471OMIM163925218613890
HP:0000047HP:0000047Hypospadias1HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM1212226558610693
HP:0000047HP:0000047Hypospadias1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000047HP:0000047Hypospadias1IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM111675466147470
HP:0000047HP:0000047Hypospadias1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0000047HP:0000047Hypospadias1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000047HP:0000047Hypospadias1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000047HP:0000047Hypospadias1LIG4 CL E G H3981235ORPHA1403176601601837
HP:0000047HP:0000047Hypospadias1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000047HP:0000047Hypospadias1MAMLD1 CL E G H10046440ORPHA1202112568300120
HP:0000047HP:0000047Hypospadias1MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000047HP:0000047Hypospadias1MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM1331076848600982
HP:0000047HP:0000047Hypospadias1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000047HP:0000047Hypospadias1MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000047HP:0000047Hypospadias1MECP2 CL E G H42041762ORPHA1105014426990300005
HP:0000047HP:0000047Hypospadias1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000047HP:0000047Hypospadias1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000047HP:0000047Hypospadias1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982897095300552
HP:0000047HP:0000047Hypospadias1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM1601947108604896
HP:0000047HP:0000047Hypospadias1NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0000047HP:0000047Hypospadias1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000047HP:0000047Hypospadias1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000047HP:0000047Hypospadias1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000047HP:0000047Hypospadias1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000047HP:0000047Hypospadias1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000047HP:0000047Hypospadias1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000047HP:0000047Hypospadias1NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000047HP:0000047Hypospadias1NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000047HP:0000047Hypospadias1NR5A1 CL E G H25162138ORPHA11891057983184757
HP:0000047HP:0000047Hypospadias1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000047HP:0000047Hypospadias1NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0000047HP:0000047Hypospadias1OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000047HP:0000047Hypospadias1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000047HP:0000047Hypospadias1PAX6 CL E G H5080194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM15714968620607108
HP:0000047HP:0000047Hypospadias1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000047HP:0000047Hypospadias1PDE4D CL E G H5144280651ORPHA1452318783600129
HP:0000047HP:0000047Hypospadias1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM1452318783600129
HP:0000047HP:0000047Hypospadias1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000047HP:0000047Hypospadias1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000047HP:0000047Hypospadias1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000047HP:0000047Hypospadias1PEX11B CL E G H8799912ORPHA182478853603867
HP:0000047HP:0000047Hypospadias1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000047HP:0000047Hypospadias1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000047HP:0000047Hypospadias1PEX14 CL E G H5195912ORPHA151768856601791
HP:0000047HP:0000047Hypospadias1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000047HP:0000047Hypospadias1PEX19 CL E G H5824912ORPHA141339713600279
HP:0000047HP:0000047Hypospadias1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000047HP:0000047Hypospadias1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000047HP:0000047Hypospadias1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000047HP:0000047Hypospadias1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000047HP:0000047Hypospadias1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000047HP:0000047Hypospadias1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000047HP:0000047Hypospadias1PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0000047HP:0000047Hypospadias1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000047HP:0000047Hypospadias1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000047HP:0000047Hypospadias1PRKAR1A CL E G H5573280651ORPHA11884519388188830
HP:0000047HP:0000047Hypospadias1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000047HP:0000047Hypospadias1PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000047HP:0000047Hypospadias1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000047HP:0000047Hypospadias1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000047HP:0000047Hypospadias1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000047HP:0000047Hypospadias1RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0000047HP:0000047Hypospadias1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000047HP:0000047Hypospadias1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000047HP:0000047Hypospadias1RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0000047HP:0000047Hypospadias1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0000047HP:0000047Hypospadias1RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0000047HP:0000047Hypospadias1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM161721679609595
HP:0000047HP:0000047Hypospadias1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0000047HP:0000047Hypospadias1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000047HP:0000047Hypospadias1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000047HP:0000047Hypospadias1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0000047HP:0000047Hypospadias1SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000047HP:0000047Hypospadias1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000047HP:0000047Hypospadias1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000047HP:0000047Hypospadias1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000047HP:0000047Hypospadias1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000047HP:0000047Hypospadias1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000047HP:0000047Hypospadias1SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000047HP:0000047Hypospadias1SOX9 CL E G H66622138ORPHA114915511204608160
HP:0000047HP:0000047Hypospadias1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000047HP:0000047Hypospadias1SRY CL E G H67362138ORPHA11099611311480000
HP:0000047HP:0000047Hypospadias1SRY CL E G H6736251510ORPHA11099611311480000
HP:0000047HP:0000047Hypospadias1SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000047HP:0000047Hypospadias1STAR CL E G H6770201710Cholesterol monooxygenase (side-chain cleaving) deficiency201710C0342474OMIM18515811359600617
HP:0000047HP:0000047Hypospadias1TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000047HP:0000047Hypospadias1TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000047HP:0000047Hypospadias1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000047HP:0000047Hypospadias1TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0000047HP:0000047Hypospadias1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0000047HP:0000047Hypospadias1TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000047HP:0000047Hypospadias1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112828215979603273
HP:0000047HP:0000047Hypospadias1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0000047HP:0000047Hypospadias1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM11612820087608132
HP:0000047HP:0000047Hypospadias1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM1535112469314370
HP:0000047HP:0000047Hypospadias1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719816808605981
HP:0000047HP:0000047Hypospadias1VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000047HP:0000047Hypospadias1VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000047HP:0000047Hypospadias1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000047HP:0000047Hypospadias1WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0000047HP:0000047Hypospadias1WNT4 CL E G H54361139466ORPHA182912783603490
HP:0000047HP:0000047Hypospadias1WNT4 CL E G H54361611812Serkal syndrome611812C2678492OMIM182912783603490
HP:0000047HP:0000047Hypospadias1WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0000047HP:0000047Hypospadias1WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000047HP:0000047Hypospadias1WT1 CL E G H7490194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM118463512796607102
HP:0000047HP:0000047Hypospadias1WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000047HP:0000047Hypospadias1ZFPM2 CL E G H23414251510ORPHA15214216700603693
HP:0000047HP:0000047Hypospadias1ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000047HP:0000047Hypospadias0ACTA1 CL E G H58171430ORPHA0217272129102610
HP:0000047HP:0000047Hypospadias0APC2 CL E G H10297821ORPHA0315624036612034
HP:0000047HP:0000047Hypospadias0ARVCF CL E G H421567ORPHA02477728602269
HP:0000047HP:0000047Hypospadias0ARX CL E G H1703022508ORPHA09846618060300382
HP:0000047HP:0000047Hypospadias0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000047HP:0000047Hypospadias0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000047HP:0000047Hypospadias0BRAF CL E G H673500ORPHA0684901097164757
HP:0000047HP:0000047Hypospadias0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0000047HP:0000047Hypospadias0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0000047HP:0000047Hypospadias0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0000047HP:0000047Hypospadias0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0000047HP:0000047Hypospadias0CCDC8 CL E G H839872616ORPHA033625367614145
HP:0000047HP:0000047Hypospadias0CDC45 CL E G H83182554ORPHA0193981739603465
HP:0000047HP:0000047Hypospadias0CDC6 CL E G H9902554ORPHA04581744602627
HP:0000047HP:0000047Hypospadias0CDT1 CL E G H816202554ORPHA01215824576605525
HP:0000047HP:0000047Hypospadias0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0000047HP:0000047Hypospadias0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0000047HP:0000047Hypospadias0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM0135917213612502
HP:0000047HP:0000047Hypospadias0COMT CL E G H1312567ORPHA0155552228116790
HP:0000047HP:0000047Hypospadias0COX7B CL E G H13492556ORPHA051642291300885
HP:0000047HP:0000047Hypospadias0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM031432309605032
HP:0000047HP:0000047Hypospadias0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0000047HP:0000047Hypospadias0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM011642494602618
HP:0000047HP:0000047Hypospadias0CUL7 CL E G H98202616ORPHA08524821024609577
HP:0000047HP:0000047Hypospadias0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000047HP:0000047Hypospadias0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0000047HP:0000047Hypospadias0DVL1 CL E G H18553107ORPHA0192443084601365
HP:0000047HP:0000047Hypospadias0DVL3 CL E G H18573107ORPHA015773087601368
HP:0000047HP:0000047Hypospadias0EFNB1 CL E G H19471520ORPHA01181813226300035
HP:0000047HP:0000047Hypospadias0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0000047HP:0000047Hypospadias0ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0000047HP:0000047Hypospadias0FANCA CL E G H217584ORPHA068917063582607139
HP:0000047HP:0000047Hypospadias0FANCB CL E G H218784ORPHA0213523583300515
HP:0000047HP:0000047Hypospadias0FANCC CL E G H217684ORPHA0658823584613899
HP:0000047HP:0000047Hypospadias0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0000047HP:0000047Hypospadias0FANCE CL E G H217884ORPHA0172013586613976
HP:0000047HP:0000047Hypospadias0FANCF CL E G H218884ORPHA0162023587613897
HP:0000047HP:0000047Hypospadias0FANCG CL E G H218984ORPHA0923253588602956
HP:0000047HP:0000047Hypospadias0FANCI CL E G H5521584ORPHA04552125568611360
HP:0000047HP:0000047Hypospadias0FANCL CL E G H5512084ORPHA02417620748608111
HP:0000047HP:0000047Hypospadias0FANCM CL E G H5769784ORPHA05369723168609644
HP:0000047HP:0000047Hypospadias0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM071993693605830
HP:0000047HP:0000047Hypospadias0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0000047HP:0000047Hypospadias0FRAS1 CL E G H801442052ORPHA06167519185607830
HP:0000047HP:0000047Hypospadias0FREM2 CL E G H3416402052ORPHA02551025396608945
HP:0000047HP:0000047Hypospadias0FZD2 CL E G H25353107ORPHA07304040600667
HP:0000047HP:0000047Hypospadias0GABRD CL E G H25631606ORPHA072784084137163
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA02445374319165240
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000047HP:0000047Hypospadias0GMNN CL E G H510532554ORPHA032117493602842
HP:0000047HP:0000047Hypospadias0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000047HP:0000047Hypospadias0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA0985264451300037
HP:0000047HP:0000047Hypospadias0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA051964452300168
HP:0000047HP:0000047Hypospadias0GRIP1 CL E G H234262052ORPHA01815918708604597
HP:0000047HP:0000047Hypospadias0HBA1 CL E G H303998791ORPHA02173464823141800
HP:0000047HP:0000047Hypospadias0HBA2 CL E G H304098791ORPHA02962744824141850
HP:0000047HP:0000047Hypospadias0HCCS CL E G H30522556ORPHA0142014837300056
HP:0000047HP:0000047Hypospadias0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0000047HP:0000047Hypospadias0HIRA CL E G H7290567ORPHA053994916600237
HP:0000047HP:0000047Hypospadias0HNF1B CL E G H692893111ORPHA024048811630189907
HP:0000047HP:0000047Hypospadias0HNF4A CL E G H317293111ORPHA01572835024600281
HP:0000047HP:0000047Hypospadias0HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0000047HP:0000047Hypospadias0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM011675466147470
HP:0000047HP:0000047Hypospadias0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000047HP:0000047Hypospadias0KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0000047HP:0000047Hypospadias0KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000047HP:0000047Hypospadias0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0000047HP:0000047Hypospadias0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000047HP:0000047Hypospadias0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000047HP:0000047Hypospadias0KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA04538630497611254
HP:0000047HP:0000047Hypospadias0KLHL40 CL E G H131377171430ORPHA02619030372615340
HP:0000047HP:0000047Hypospadias0KLHL41 CL E G H10324171430ORPHA099816905607701
HP:0000047HP:0000047Hypospadias0KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000047HP:0000047Hypospadias0KRAS CL E G H38453339ORPHA0452746407190070
HP:0000047HP:0000047Hypospadias0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM041756556604407
HP:0000047HP:0000047Hypospadias0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0000047HP:0000047Hypospadias0LMNA CL E G H40001662ORPHA057411526636150330
HP:0000047HP:0000047Hypospadias0LMOD3 CL E G H56203171430ORPHA0181686649616112
HP:0000047HP:0000047Hypospadias0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM09426758604357
HP:0000047HP:0000047Hypospadias0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000047HP:0000047Hypospadias0MAPRE2 CL E G H109822505ORPHA04606891605789
HP:0000047HP:0000047Hypospadias0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0000047HP:0000047Hypospadias0MNX1 CL E G H31101552ORPHA0801064979142994
HP:0000047HP:0000047Hypospadias0NDUFB11 CL E G H545392556ORPHA0616320372300403
HP:0000047HP:0000047Hypospadias0NEB CL E G H4703171430ORPHA032130107720161650
HP:0000047HP:0000047Hypospadias0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000047HP:0000047Hypospadias0NSD1 CL E G H64324821ORPHA052589614234606681
HP:0000047HP:0000047Hypospadias0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM01422012766602952
HP:0000047HP:0000047Hypospadias0OBSL1 CL E G H233632616ORPHA03533129092610991
HP:0000047HP:0000047Hypospadias0ORC1 CL E G H49982554ORPHA0121038487601902
HP:0000047HP:0000047Hypospadias0ORC4 CL E G H50002554ORPHA06878490603056
HP:0000047HP:0000047Hypospadias0ORC6 CL E G H235942554ORPHA069017151607213
HP:0000047HP:0000047Hypospadias0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0000047HP:0000047Hypospadias0PIEZO2 CL E G H638952461ORPHA03232926270613629
HP:0000047HP:0000047Hypospadias0PIGN CL E G H235562059ORPHA0344168967606097
HP:0000047HP:0000047Hypospadias0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA01041369005601542
HP:0000047HP:0000047Hypospadias0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM09230630074614258
HP:0000047HP:0000047Hypospadias0PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0000047HP:0000047Hypospadias0PSPH CL E G H572379350ORPHA091099577172480
HP:0000047HP:0000047Hypospadias0PTPN11 CL E G H5781500ORPHA01434759644176876
HP:0000047HP:0000047Hypospadias0RAD51 CL E G H588884ORPHA016369817179617
HP:0000047HP:0000047Hypospadias0RAD51C CL E G H588984ORPHA013111309820602774
HP:0000047HP:0000047Hypospadias0RAF1 CL E G H5894500ORPHA0545089829164760
HP:0000047HP:0000047Hypospadias0RAP1A CL E G H59062322ORPHA02209855179520
HP:0000047HP:0000047Hypospadias0RAP1B CL E G H59082322ORPHA01199857179530
HP:0000047HP:0000047Hypospadias0RERE CL E G H4731606ORPHA0251619965605226
HP:0000047HP:0000047Hypospadias0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0000047HP:0000047Hypospadias0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0000047HP:0000047Hypospadias0RREB1 CL E G H6239567ORPHA01217110449602209
HP:0000047HP:0000047Hypospadias0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000047HP:0000047Hypospadias0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM08818210524602218
HP:0000047HP:0000047Hypospadias0SEC24C CL E G H9632567ORPHA02410705607185
HP:0000047HP:0000047Hypospadias0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0000047HP:0000047Hypospadias0SETD2 CL E G H29072821ORPHA01943318420612778
HP:0000047HP:0000047Hypospadias0SKI CL E G H64971606ORPHA02450210896164780
HP:0000047HP:0000047Hypospadias0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0000047HP:0000047Hypospadias0SMAD4 CL E G H40892588ORPHA014712576770600993
HP:0000047HP:0000047Hypospadias0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0000047HP:0000047Hypospadias0SOX2 CL E G H665777298ORPHA010510511195184429
HP:0000047HP:0000047Hypospadias0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0000047HP:0000047Hypospadias0SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA04753316466607035
HP:0000047HP:0000047Hypospadias0TBX1 CL E G H6899567ORPHA08255311592602054
HP:0000047HP:0000047Hypospadias0TP63 CL E G H86261896Dominant cleft palateORPHA012828215979603273
HP:0000047HP:0000047Hypospadias0TUBB CL E G H2030682505ORPHA083320778191130
HP:0000047HP:0000047Hypospadias0UBE2T CL E G H2908984ORPHA071825009610538
HP:0000047HP:0000047Hypospadias0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA0719816808605981
HP:0000047HP:0000047Hypospadias0UFD1 CL E G H7353567ORPHA0436812520601754
HP:0000047HP:0000047Hypospadias0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0000047HP:0000047Hypospadias0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000047HP:0000047Hypospadias0WNT5A CL E G H74743107ORPHA0115812784164975
HP:0000047HP:0000047Hypospadias0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0000047HP:0000047Hypospadias0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM029861314881605802
HP:0000047HP:0000047Hypospadias0ZMPSTE24 CL E G H102691662ORPHA03413612877606480
HP:0000047HP:0000047Hypospadias1ACTA1 CL E G H58171430ORPHA0217272129102610
HP:0000047HP:0000047Hypospadias1APC2 CL E G H10297821ORPHA0315624036612034
HP:0000047HP:0000047Hypospadias1ARVCF CL E G H421567ORPHA02477728602269
HP:0000047HP:0000047Hypospadias1ARX CL E G H1703022508ORPHA09846618060300382
HP:0000047HP:0000047Hypospadias1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000047HP:0000047Hypospadias1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000047HP:0000047Hypospadias1BRAF CL E G H673500ORPHA0684901097164757
HP:0000047HP:0000047Hypospadias1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0000047HP:0000047Hypospadias1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0000047HP:0000047Hypospadias1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0000047HP:0000047Hypospadias1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0000047HP:0000047Hypospadias1CCDC8 CL E G H839872616ORPHA033625367614145
HP:0000047HP:0000047Hypospadias1CDC45 CL E G H83182554ORPHA0193981739603465
HP:0000047HP:0000047Hypospadias1CDC6 CL E G H9902554ORPHA04581744602627
HP:0000047HP:0000047Hypospadias1CDT1 CL E G H816202554ORPHA01215824576605525
HP:0000047HP:0000047Hypospadias1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0000047HP:0000047Hypospadias1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0000047HP:0000047Hypospadias1COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM0135917213612502
HP:0000047HP:0000047Hypospadias1COMT CL E G H1312567ORPHA0155552228116790
HP:0000047HP:0000047Hypospadias1COX7B CL E G H13492556ORPHA051642291300885
HP:0000047HP:0000047Hypospadias1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM031432309605032
HP:0000047HP:0000047Hypospadias1CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0000047HP:0000047Hypospadias1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM011642494602618
HP:0000047HP:0000047Hypospadias1CUL7 CL E G H98202616ORPHA08524821024609577
HP:0000047HP:0000047Hypospadias1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000047HP:0000047Hypospadias1DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0000047HP:0000047Hypospadias1DVL1 CL E G H18553107ORPHA0192443084601365
HP:0000047HP:0000047Hypospadias1DVL3 CL E G H18573107ORPHA015773087601368
HP:0000047HP:0000047Hypospadias1EFNB1 CL E G H19471520ORPHA01181813226300035
HP:0000047HP:0000047Hypospadias1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0000047HP:0000047Hypospadias1ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0000047HP:0000047Hypospadias1FANCA CL E G H217584ORPHA068917063582607139
HP:0000047HP:0000047Hypospadias1FANCB CL E G H218784ORPHA0213523583300515
HP:0000047HP:0000047Hypospadias1FANCC CL E G H217684ORPHA0658823584613899
HP:0000047HP:0000047Hypospadias1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0000047HP:0000047Hypospadias1FANCE CL E G H217884ORPHA0172013586613976
HP:0000047HP:0000047Hypospadias1FANCF CL E G H218884ORPHA0162023587613897
HP:0000047HP:0000047Hypospadias1FANCG CL E G H218984ORPHA0923253588602956
HP:0000047HP:0000047Hypospadias1FANCI CL E G H5521584ORPHA04552125568611360
HP:0000047HP:0000047Hypospadias1FANCL CL E G H5512084ORPHA02417620748608111
HP:0000047HP:0000047Hypospadias1FANCM CL E G H5769784ORPHA05369723168609644
HP:0000047HP:0000047Hypospadias1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM071993693605830
HP:0000047HP:0000047Hypospadias1FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA01392153800601090
HP:0000047HP:0000047Hypospadias1FRAS1 CL E G H801442052ORPHA06167519185607830
HP:0000047HP:0000047Hypospadias1FREM2 CL E G H3416402052ORPHA02551025396608945
HP:0000047HP:0000047Hypospadias1FZD2 CL E G H25353107ORPHA07304040600667
HP:0000047HP:0000047Hypospadias1GABRD CL E G H25631606ORPHA072784084137163
HP:0000047HP:0000047Hypospadias1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0000047HP:0000047Hypospadias1GLI3 CL E G H273736Chromosome 3 duplication syndromeC2931333ORPHA02445374319165240
HP:0000047HP:0000047Hypospadias1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000047HP:0000047Hypospadias1GMNN CL E G H510532554ORPHA032117493602842
HP:0000047HP:0000047Hypospadias1GP1BB CL E G H2812567ORPHA0534044440138720
HP:0000047HP:0000047Hypospadias1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA0985264451300037
HP:0000047HP:0000047Hypospadias1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA051964452300168
HP:0000047HP:0000047Hypospadias1GRIP1 CL E G H234262052ORPHA01815918708604597
HP:0000047HP:0000047Hypospadias1HBA1 CL E G H303998791ORPHA02173464823141800
HP:0000047HP:0000047Hypospadias1HBA2 CL E G H304098791ORPHA02962744824141850
HP:0000047HP:0000047Hypospadias1HCCS CL E G H30522556ORPHA0142014837300056
HP:0000047HP:0000047Hypospadias1HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0000047HP:0000047Hypospadias1HIRA CL E G H7290567ORPHA053994916600237
HP:0000047HP:0000047Hypospadias1HNF1B CL E G H692893111ORPHA024048811630189907
HP:0000047HP:0000047Hypospadias1HNF4A CL E G H317293111ORPHA01572835024600281
HP:0000047HP:0000047Hypospadias1HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0000047HP:0000047Hypospadias1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM011675466147470
HP:0000047HP:0000047Hypospadias1JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0000047HP:0000047Hypospadias1KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0000047HP:0000047Hypospadias1KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000047HP:0000047Hypospadias1KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0000047HP:0000047Hypospadias1KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000047HP:0000047Hypospadias1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000047HP:0000047Hypospadias1KIF7 CL E G H37465436Chromosome 3 duplication syndromeC2931333ORPHA04538630497611254
HP:0000047HP:0000047Hypospadias1KLHL40 CL E G H131377171430ORPHA02619030372615340
HP:0000047HP:0000047Hypospadias1KLHL41 CL E G H10324171430ORPHA099816905607701
HP:0000047HP:0000047Hypospadias1KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000047HP:0000047Hypospadias1KRAS CL E G H38453339ORPHA0452746407190070
HP:0000047HP:0000047Hypospadias1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM041756556604407
HP:0000047HP:0000047Hypospadias1LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0000047HP:0000047Hypospadias1LMNA CL E G H40001662ORPHA057411526636150330
HP:0000047HP:0000047Hypospadias1LMOD3 CL E G H56203171430ORPHA0181686649616112
HP:0000047HP:0000047Hypospadias1MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM09426758604357
HP:0000047HP:0000047Hypospadias1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0000047HP:0000047Hypospadias1MAPRE2 CL E G H109822505ORPHA04606891605789
HP:0000047HP:0000047Hypospadias1MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0000047HP:0000047Hypospadias1MNX1 CL E G H31101552ORPHA0801064979142994
HP:0000047HP:0000047Hypospadias1NDUFB11 CL E G H545392556ORPHA0616320372300403
HP:0000047HP:0000047Hypospadias1NEB CL E G H4703171430ORPHA032130107720161650
HP:0000047HP:0000047Hypospadias1NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000047HP:0000047Hypospadias1NSD1 CL E G H64324821ORPHA052589614234606681
HP:0000047HP:0000047Hypospadias1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM01422012766602952
HP:0000047HP:0000047Hypospadias1OBSL1 CL E G H233632616ORPHA03533129092610991
HP:0000047HP:0000047Hypospadias1ORC1 CL E G H49982554ORPHA0121038487601902
HP:0000047HP:0000047Hypospadias1ORC4 CL E G H50002554ORPHA06878490603056
HP:0000047HP:0000047Hypospadias1ORC6 CL E G H235942554ORPHA069017151607213
HP:0000047HP:0000047Hypospadias1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0000047HP:0000047Hypospadias1PIEZO2 CL E G H638952461ORPHA03232926270613629
HP:0000047HP:0000047Hypospadias1PIGN CL E G H235562059ORPHA0344168967606097
HP:0000047HP:0000047Hypospadias1PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA01041369005601542
HP:0000047HP:0000047Hypospadias1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM09230630074614258
HP:0000047HP:0000047Hypospadias1PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0000047HP:0000047Hypospadias1PSPH CL E G H572379350ORPHA091099577172480
HP:0000047HP:0000047Hypospadias1PTPN11 CL E G H5781500ORPHA01434759644176876
HP:0000047HP:0000047Hypospadias1RAD51 CL E G H588884ORPHA016369817179617
HP:0000047HP:0000047Hypospadias1RAD51C CL E G H588984ORPHA013111309820602774
HP:0000047HP:0000047Hypospadias1RAF1 CL E G H5894500ORPHA0545089829164760
HP:0000047HP:0000047Hypospadias1RAP1A CL E G H59062322ORPHA02209855179520
HP:0000047HP:0000047Hypospadias1RAP1B CL E G H59082322ORPHA01199857179530
HP:0000047HP:0000047Hypospadias1RERE CL E G H4731606ORPHA0251619965605226
HP:0000047HP:0000047Hypospadias1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0000047HP:0000047Hypospadias1RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0000047HP:0000047Hypospadias1RREB1 CL E G H6239567ORPHA01217110449602209
HP:0000047HP:0000047Hypospadias1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000047HP:0000047Hypospadias1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM08818210524602218
HP:0000047HP:0000047Hypospadias1SEC24C CL E G H9632567ORPHA02410705607185
HP:0000047HP:0000047Hypospadias1SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0000047HP:0000047Hypospadias1SETD2 CL E G H29072821ORPHA01943318420612778
HP:0000047HP:0000047Hypospadias1SKI CL E G H64971606ORPHA02450210896164780
HP:0000047HP:0000047Hypospadias1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0000047HP:0000047Hypospadias1SMAD4 CL E G H40892588ORPHA014712576770600993
HP:0000047HP:0000047Hypospadias1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0000047HP:0000047Hypospadias1SOX2 CL E G H665777298ORPHA010510511195184429
HP:0000047HP:0000047Hypospadias1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0000047HP:0000047Hypospadias1SUFU CL E G H5168436Chromosome 3 duplication syndromeC2931333ORPHA04753316466607035
HP:0000047HP:0000047Hypospadias1TBX1 CL E G H6899567ORPHA08255311592602054
HP:0000047HP:0000047Hypospadias1TP63 CL E G H86261896Dominant cleft palateORPHA012828215979603273
HP:0000047HP:0000047Hypospadias1TUBB CL E G H2030682505ORPHA083320778191130
HP:0000047HP:0000047Hypospadias1UBE2T CL E G H2908984ORPHA071825009610538
HP:0000047HP:0000047Hypospadias1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA0719816808605981
HP:0000047HP:0000047Hypospadias1UFD1 CL E G H7353567ORPHA0436812520601754
HP:0000047HP:0000047Hypospadias1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0000047HP:0000047Hypospadias1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000047HP:0000047Hypospadias1WNT5A CL E G H74743107ORPHA0115812784164975
HP:0000047HP:0000047Hypospadias1XRCC2 CL E G H751684ORPHA02335812829600375
HP:0000047HP:0000047Hypospadias1ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM029861314881605802
HP:0000047HP:0000047Hypospadias1ZMPSTE24 CL E G H102691662ORPHA03413612877606480


Genes (254) :ACTA1 ALG12 APC2 AR ARCN1 ARID1B ARVCF ARX ATPAF2 ATR ATRX B3GLCT B9D2 BCOR BMP4 BRAF BRCA1 BRCA2 BRIP1 BUB1B CCDC22 CCDC8 CDC42 CDC45 CDC6 CDCA7 CDH11 CDKN1C CDT1 CHRNG COG1 COL3A1 COL5A1 COLEC10 COLEC11 COMT COX7B CPLX1 CREBBP CSPP1 CTBP1 CUL4B CUL7 CYB5A CYP11A1 CYP17A1 CYP21A2 DACT1 DCHS1 DHCR7 DKC1 DLL3 DMRT3 DNAJC19 DVL1 DVL3 DYNC2LI1 EFNB1 EHMT1 EP300 EPG5 ERCC4 ERMARD ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXL4 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FOXC1 FRAS1 FREM2 FZD2 GABRD GATA4 GLI1 GLI3 GMNN GP1BB GPC3 GPC4 GRIP1 H19 HBA1 HBA2 HCCS HDAC8 HES7 HIRA HNF1B HNF4A HOXA13 HOXD13 HSD3B2 HYLS1 ICK IGF2 JMJD1C KCNAB2 KDM5B KDM6A KIAA0586 KIF1BP KIF7 KLHL40 KLHL41 KMT2A KMT2D KRAS LETM1 LFNG LIG4 LMNA LMOD3 MAB21L2 MAD2L2 MAMLD1 MAP3K1 MAPRE2 MCTP2 MECP2 MED12 MED25 MESP2 MID1 MKKS MNX1 MYMK NAA10 NDUFB11 NEB NELFA NIPBL NOTCH2 NR0B1 NR5A1 NSD1 NSD2 NSUN2 OBSL1 OGT ORC1 ORC4 ORC6 PALB2 PAX6 PCNT PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGN PITX2 POLR3A POR PQBP1 PRDM16 PRKAR1A PSMD12 PSPH PTDSS1 PTPN11 RAD21 RAD51 RAD51C RAF1 RAP1A RAP1B RBBP8 RERE RFWD3 RIPPLY2 RLIM RPL10 RPL35A RREB1 RSPO1 SALL1 SAMD9 SEC24C SETBP1 SETD2 SETD5 SIN3A SIX6 SKI SLX4 SMAD4 SMC1A SMC3 SMCHD1 SOX2 SOX9 SPECC1L SRCAP SRD5A2 SRY SSR4 STAR SUFU TAPT1 TBX1 TBX22 TFAP2A TMEM70 TMEM94 TP63 TTC8 TUBB UBA1 UBE2T UBR1 UFD1 VAC14 VAMP7 WASHC5 WDR35 WHCR WNT4 WNT5A WNT7A WT1 WWOX XRCC2 ZEB2 ZFPM2 ZMPSTE24

Diseases (203) :171430 607143 821 90797 440 617164 135900 567 2508 300004 604273 210600 301040 309580 709 261540 614175 568 309800 300166 607932 500 84 257300 7 2616 616737 2554 617063 616910 85173 614732 265000 611209 286 265050 2556 309801 194190 180849 397715 300354 273750 90796 250790 90793 201910 857 617466 601390 818 270400 305000 2311 251510 610198 3107 289 1520 304110 610253 75857 268300 225500 615546 615471 615465 166250 3472 216340 90652 304120 782 2052 219000 164745 1606 251071 672 36 175700 373 312870 180860 98791 199 93111 137920 2438 140000 887 201810 236680 612651 616489 618109 2322 66629 200990 3339 280 235 1662 275210 615877 613762 2505 616734 1596 1762 305450 616449 300000 605231 1552 122470 955 102500 2138 300997 613803 194072 210720 280651 614613 912 214100 2461 248700 2059 180500 264090 201750 309500 617516 79350 2658 151050 151100 606744 616975 300978 435938 300998 612528 610644 107480 617053 798 269150 615761 94065 613406 206900 2588 603457 77298 145410 136140 300934 201710 616897 302905 113620 1194 614052 618316 1896 106260 129400 615985 301830 2315 243800 220210 614091 139466 611812 276820 235730 300633 312300 1299 211380 248340 168558 289548 66634 242840 149730 615542 176305 90791 300758 2473 1358 617480 612965 95699 753 264600 1772 921
 

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