Human Phenotype Ontology 
Grandparent Node:
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Abnormal penis morphology (HP:0000036)help
Grandparent Node:
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000047HP:0000047Hypospadias0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000047HP:0000047Hypospadias0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0000047HP:0000047Hypospadias0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000047HP:0000047Hypospadias0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000047HP:0000047Hypospadias0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000047HP:0000047Hypospadias0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000047HP:0000047Hypospadias0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000047HP:0000047Hypospadias0AR CL E G H367644OMIM:300633Hypospadias 1, X-linked125
HP:0000047HP:0000047Hypospadias0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0000047HP:0000047Hypospadias0AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000047HP:0000047Hypospadias0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000047HP:0000047Hypospadias0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000047HP:0000047Hypospadias0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000047HP:0000047Hypospadias0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000047HP:0000047Hypospadias0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000047HP:0000047Hypospadias0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040283 - Occasional166
HP:0000047HP:0000047Hypospadias0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000047HP:0000047Hypospadias0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0000047HP:0000047Hypospadias0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000047HP:0000047Hypospadias0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000047HP:0000047Hypospadias0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000047HP:0000047Hypospadias0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000047HP:0000047Hypospadias0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000047HP:0000047Hypospadias0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000047HP:0000047Hypospadias0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000047HP:0000047Hypospadias0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000047HP:0000047Hypospadias0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0000047HP:0000047Hypospadias0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000047HP:0000047Hypospadias0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000047HP:0000047Hypospadias0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0000047HP:0000047Hypospadias0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000047HP:0000047Hypospadias0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000047HP:0000047Hypospadias0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000047HP:0000047Hypospadias0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000047HP:0000047Hypospadias0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000047HP:0000047Hypospadias0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000047HP:0000047Hypospadias0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000047HP:0000047Hypospadias0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040283 - Occasional5
HP:0000047HP:0000047Hypospadias0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000047HP:0000047Hypospadias0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000047HP:0000047Hypospadias0CDC42BPB CL E G H95781738OMIM:619841
HP:0000047HP:0000047Hypospadias0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000047HP:0000047Hypospadias0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional31
HP:0000047HP:0000047Hypospadias0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000047HP:0000047Hypospadias0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0000047HP:0000047Hypospadias0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000047HP:0000047Hypospadias0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000047HP:0000047Hypospadias0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0000047HP:0000047Hypospadias0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0000047HP:0000047Hypospadias0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent114
HP:0000047HP:0000047Hypospadias0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional50
HP:0000047HP:0000047Hypospadias0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0000047HP:0000047Hypospadias0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000047HP:0000047Hypospadias0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000047HP:0000047Hypospadias0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000047HP:0000047Hypospadias0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000047HP:0000047Hypospadias0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000047HP:0000047Hypospadias0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2HP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000047HP:0000047Hypospadias0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000047HP:0000047Hypospadias0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000047HP:0000047Hypospadias0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000047HP:0000047Hypospadias0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000047HP:0000047Hypospadias0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000047HP:0000047Hypospadias0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000047HP:0000047Hypospadias0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000047HP:0000047Hypospadias0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000047HP:0000047Hypospadias0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000047HP:0000047Hypospadias0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000047HP:0000047Hypospadias0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000047HP:0000047Hypospadias0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0000047HP:0000047Hypospadias0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040283 - Occasional127
HP:0000047HP:0000047Hypospadias0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000047HP:0000047Hypospadias0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0000047HP:0000047Hypospadias0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000047HP:0000047Hypospadias0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000047HP:0000047Hypospadias0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000047HP:0000047Hypospadias0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000047HP:0000047Hypospadias0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0000047HP:0000047Hypospadias0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000047HP:0000047Hypospadias0DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 2.2
HP:0000047HP:0000047Hypospadias0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0000047HP:0000047Hypospadias0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000047HP:0000047Hypospadias0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000047HP:0000047Hypospadias0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000047HP:0000047Hypospadias0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000047HP:0000047Hypospadias0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000047HP:0000047Hypospadias0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000047HP:0000047Hypospadias0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0000047HP:0000047Hypospadias0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0000047HP:0000047Hypospadias0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0000047HP:0000047Hypospadias0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000047HP:0000047Hypospadias0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000047HP:0000047Hypospadias0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000047HP:0000047Hypospadias0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000047HP:0000047Hypospadias0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0000047HP:0000047Hypospadias0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040283 - Occasional27
HP:0000047HP:0000047Hypospadias0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000047HP:0000047Hypospadias0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000047HP:0000047Hypospadias0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000047HP:0000047Hypospadias0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000047HP:0000047Hypospadias0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000047HP:0000047Hypospadias0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000047HP:0000047Hypospadias0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0000047HP:0000047Hypospadias0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040282 - Frequent92
HP:0000047HP:0000047Hypospadias0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000047HP:0000047Hypospadias0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000047HP:0000047Hypospadias0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000047HP:0000047Hypospadias0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000047HP:0000047Hypospadias0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000047HP:0000047Hypospadias0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000047HP:0000047Hypospadias0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000047HP:0000047Hypospadias0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000047HP:0000047Hypospadias0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000047HP:0000047Hypospadias0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000047HP:0000047Hypospadias0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000047HP:0000047Hypospadias0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000047HP:0000047Hypospadias0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000047HP:0000047Hypospadias0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000047HP:0000047Hypospadias0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000047HP:0000047Hypospadias0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0000047HP:0000047Hypospadias0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000047HP:0000047Hypospadias0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0000047HP:0000047Hypospadias0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000047HP:0000047Hypospadias0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000047HP:0000047Hypospadias0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000047HP:0000047Hypospadias0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000047HP:0000047Hypospadias0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000047HP:0000047Hypospadias0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000047HP:0000047Hypospadias0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000047HP:0000047Hypospadias0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000047HP:0000047Hypospadias0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000047HP:0000047Hypospadias0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0000047HP:0000047Hypospadias0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000047HP:0000047Hypospadias0FOCAD CL E G H5491423377OMIM:6199913
HP:0000047HP:0000047Hypospadias0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000047HP:0000047Hypospadias0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0000047HP:0000047Hypospadias0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000047HP:0000047Hypospadias0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0000047HP:0000047Hypospadias0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0000047HP:0000047Hypospadias0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000047HP:0000047Hypospadias0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000047HP:0000047Hypospadias0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0000047HP:0000047Hypospadias0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0000047HP:0000047Hypospadias0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000047HP:0000047Hypospadias0GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease87
HP:0000047HP:0000047Hypospadias0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000047HP:0000047Hypospadias0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional270
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000047HP:0000047Hypospadias0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040284 - Very rare270
HP:0000047HP:0000047Hypospadias0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000047HP:0000047Hypospadias0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0000047HP:0000047Hypospadias0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000047HP:0000047Hypospadias0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000047HP:0000047Hypospadias0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0000047HP:0000047Hypospadias0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0000047HP:0000047Hypospadias0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000047HP:0000047Hypospadias0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040283 - Occasional200
HP:0000047HP:0000047Hypospadias0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040283 - Occasional88
HP:0000047HP:0000047Hypospadias0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000047HP:0000047Hypospadias0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0000047HP:0000047Hypospadias0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000047HP:0000047Hypospadias0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000047HP:0000047Hypospadias0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent2
HP:0000047HP:0000047Hypospadias0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0000047HP:0000047Hypospadias0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome.90
HP:0000047HP:0000047Hypospadias0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000047HP:0000047Hypospadias0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0000047HP:0000047Hypospadias0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0000047HP:0000047Hypospadias0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias11
HP:0000047HP:0000047Hypospadias0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000047HP:0000047Hypospadias0HSD3B2 CL E G H32845218OMIM:201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.34
HP:0000047HP:0000047Hypospadias0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000047HP:0000047Hypospadias0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000047HP:0000047Hypospadias0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000047HP:0000047Hypospadias0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0000047HP:0000047Hypospadias0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive faciesHP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0000047HP:0000047Hypospadias0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent9
HP:0000047HP:0000047Hypospadias0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000047HP:0000047Hypospadias0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000047HP:0000047Hypospadias0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000047HP:0000047Hypospadias0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000047HP:0000047Hypospadias0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000047HP:0000047Hypospadias0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000047HP:0000047Hypospadias0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000047HP:0000047Hypospadias0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000047HP:0000047Hypospadias0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000047HP:0000047Hypospadias0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000047HP:0000047Hypospadias0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000047HP:0000047Hypospadias0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000047HP:0000047Hypospadias0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0000047HP:0000047Hypospadias0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0000047HP:0000047Hypospadias0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0000047HP:0000047Hypospadias0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000047HP:0000047Hypospadias0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040283 - Occasional196
HP:0000047HP:0000047Hypospadias0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000047HP:0000047Hypospadias0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000047HP:0000047Hypospadias0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000047HP:0000047Hypospadias0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000047HP:0000047Hypospadias0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional645
HP:0000047HP:0000047Hypospadias0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0000047HP:0000047Hypospadias0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000047HP:0000047Hypospadias0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0000047HP:0000047Hypospadias0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0MAMLD1 CL E G H100462568OMIM:300758Hypospadias 2, X-linked5
HP:0000047HP:0000047Hypospadias0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndrome5
HP:0000047HP:0000047Hypospadias0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000047HP:0000047Hypospadias0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000047HP:0000047Hypospadias0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6.13
HP:0000047HP:0000047Hypospadias0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000047HP:0000047Hypospadias0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000047HP:0000047Hypospadias0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000047HP:0000047Hypospadias0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000047HP:0000047Hypospadias0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0000047HP:0000047Hypospadias0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000047HP:0000047Hypospadias0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000047HP:0000047Hypospadias0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000047HP:0000047Hypospadias0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000047HP:0000047Hypospadias0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000047HP:0000047Hypospadias0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000047HP:0000047Hypospadias0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000047HP:0000047Hypospadias0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000047HP:0000047Hypospadias0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 6.69
HP:0000047HP:0000047Hypospadias0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0000047HP:0000047Hypospadias0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0MNX1 CL E G H31104979ORPHA:1552Currarino syndromeHP:0040283 - Occasional17
HP:0000047HP:0000047Hypospadias0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndrome185
HP:0000047HP:0000047Hypospadias0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0000047HP:0000047Hypospadias0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0000047HP:0000047Hypospadias0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0000047HP:0000047Hypospadias0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0000047HP:0000047Hypospadias0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000047HP:0000047Hypospadias0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000047HP:0000047Hypospadias0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0000047HP:0000047Hypospadias0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000047HP:0000047Hypospadias0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0000047HP:0000047Hypospadias0NDUFB7 CL E G H47137702OMIM:620135
HP:0000047HP:0000047Hypospadias0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0000047HP:0000047Hypospadias0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0000047HP:0000047Hypospadias0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0000047HP:0000047Hypospadias0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0000047HP:0000047Hypospadias0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000047HP:0000047Hypospadias0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000047HP:0000047Hypospadias0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0000047HP:0000047Hypospadias0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000047HP:0000047Hypospadias0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000047HP:0000047Hypospadias0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H25167983ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H25167983OMIM:61748046,xx sex reversal 438
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000047HP:0000047Hypospadias0NR5A1 CL E G H25167983OMIM:61296546XY sex reversal 338
HP:0000047HP:0000047Hypospadias0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000047HP:0000047Hypospadias0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000047HP:0000047Hypospadias0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0000047HP:0000047Hypospadias0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000047HP:0000047Hypospadias0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040283 - Occasional143
HP:0000047HP:0000047Hypospadias0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000047HP:0000047Hypospadias0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional53
HP:0000047HP:0000047Hypospadias0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional21
HP:0000047HP:0000047Hypospadias0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040283 - Occasional39
HP:0000047HP:0000047Hypospadias0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000047HP:0000047Hypospadias0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000047HP:0000047Hypospadias0PAICS CL E G H106068587OMIM:619859
HP:0000047HP:0000047Hypospadias0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000047HP:0000047Hypospadias0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent194
HP:0000047HP:0000047Hypospadias0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000047HP:0000047Hypospadias0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000047HP:0000047Hypospadias0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0000047HP:0000047Hypospadias0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000047HP:0000047Hypospadias0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000047HP:0000047Hypospadias0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000047HP:0000047Hypospadias0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000047HP:0000047Hypospadias0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000047HP:0000047Hypospadias0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000047HP:0000047Hypospadias0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000047HP:0000047Hypospadias0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000047HP:0000047Hypospadias0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000047HP:0000047Hypospadias0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000047HP:0000047Hypospadias0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000047HP:0000047Hypospadias0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000047HP:0000047Hypospadias0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000047HP:0000047Hypospadias0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000047HP:0000047Hypospadias0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000047HP:0000047Hypospadias0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000047HP:0000047Hypospadias0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040283 - Occasional77
HP:0000047HP:0000047Hypospadias0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0000047HP:0000047Hypospadias0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0000047HP:0000047Hypospadias0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000047HP:0000047Hypospadias0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000047HP:0000047Hypospadias0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent3
HP:0000047HP:0000047Hypospadias0POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0000047HP:0000047Hypospadias0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0000047HP:0000047Hypospadias0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0000047HP:0000047Hypospadias0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0000047HP:0000047Hypospadias0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000047HP:0000047Hypospadias0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000047HP:0000047Hypospadias0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000047HP:0000047Hypospadias0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000047HP:0000047Hypospadias0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000047HP:0000047Hypospadias0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000047HP:0000047Hypospadias0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000047HP:0000047Hypospadias0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0000047HP:0000047Hypospadias0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000047HP:0000047Hypospadias0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000047HP:0000047Hypospadias0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000047HP:0000047Hypospadias0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0000047HP:0000047Hypospadias0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000047HP:0000047Hypospadias0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000047HP:0000047Hypospadias0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000047HP:0000047Hypospadias0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0000047HP:0000047Hypospadias0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000047HP:0000047Hypospadias0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0000047HP:0000047Hypospadias0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000047HP:0000047Hypospadias0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000047HP:0000047Hypospadias0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0000047HP:0000047Hypospadias0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0000047HP:0000047Hypospadias0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000047HP:0000047Hypospadias0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000047HP:0000047Hypospadias0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000047HP:0000047Hypospadias0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000047HP:0000047Hypospadias0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000047HP:0000047Hypospadias0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000047HP:0000047Hypospadias0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0000047HP:0000047Hypospadias0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000047HP:0000047Hypospadias0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0000047HP:0000047Hypospadias0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0000047HP:0000047Hypospadias0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0000047HP:0000047Hypospadias0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0000047HP:0000047Hypospadias0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0000047HP:0000047Hypospadias0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0000047HP:0000047Hypospadias0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000047HP:0000047Hypospadias0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000047HP:0000047Hypospadias0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000047HP:0000047Hypospadias0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000047HP:0000047Hypospadias0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0000047HP:0000047Hypospadias0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000047HP:0000047Hypospadias0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000047HP:0000047Hypospadias0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0000047HP:0000047Hypospadias0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000047HP:0000047Hypospadias0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000047HP:0000047Hypospadias0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000047HP:0000047Hypospadias0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0000047HP:0000047Hypospadias0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000047HP:0000047Hypospadias0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000047HP:0000047Hypospadias0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000047HP:0000047Hypospadias0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000047HP:0000047Hypospadias0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000047HP:0000047Hypospadias0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000047HP:0000047Hypospadias0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000047HP:0000047Hypospadias0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000047HP:0000047Hypospadias0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0000047HP:0000047Hypospadias0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000047HP:0000047Hypospadias0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000047HP:0000047Hypospadias0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000047HP:0000047Hypospadias0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000047HP:0000047Hypospadias0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000047HP:0000047Hypospadias0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000047HP:0000047Hypospadias0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000047HP:0000047Hypospadias0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000047HP:0000047Hypospadias0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndromeHP:0040283 - Occasional174
HP:0000047HP:0000047Hypospadias0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000047HP:0000047Hypospadias0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000047HP:0000047Hypospadias0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000047HP:0000047Hypospadias0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0000047HP:0000047Hypospadias0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000047HP:0000047Hypospadias0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0SOX9 CL E G H666211204ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000047HP:0000047Hypospadias0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000047HP:0000047Hypospadias0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000047HP:0000047Hypospadias0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0000047HP:0000047Hypospadias0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000047HP:0000047Hypospadias0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000047HP:0000047Hypospadias0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000047HP:0000047Hypospadias0SRD5A2 CL E G H671611285ORPHA:75346,XY disorder of sex development due to 5-alpha-reductase 2 deficiency86
HP:0000047HP:0000047Hypospadias0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias86
HP:0000047HP:0000047Hypospadias0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040282 - Frequent23
HP:0000047HP:0000047Hypospadias0SRY CL E G H673611311ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000047HP:0000047Hypospadias0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000047HP:0000047Hypospadias0SRY CL E G H673611311OMIM:40004546XX sex reversal 1.23
HP:0000047HP:0000047Hypospadias0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy.12
HP:0000047HP:0000047Hypospadias0STAR CL E G H677011359OMIM:201710Lipoid congenital adrenal hyperplasia.45
HP:0000047HP:0000047Hypospadias0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040284 - Very rare60
HP:0000047HP:0000047Hypospadias0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000047HP:0000047Hypospadias0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0000047HP:0000047Hypospadias0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000047HP:0000047Hypospadias0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040281 - Very frequent28
HP:0000047HP:0000047Hypospadias0TBX22 CL E G H5094511600OMIM:302905Charge-Like syndrome, X-linked.28
HP:0000047HP:0000047Hypospadias0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000047HP:0000047Hypospadias0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000047HP:0000047Hypospadias0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000047HP:0000047Hypospadias0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000047HP:0000047Hypospadias0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0000047HP:0000047Hypospadias0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000047HP:0000047Hypospadias0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000047HP:0000047Hypospadias0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0000047HP:0000047Hypospadias0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000047HP:0000047Hypospadias0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000047HP:0000047Hypospadias0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000047HP:0000047Hypospadias0TTC8 CL E G H12301620087OMIM:615985Bardet-Biedl syndrome 8.41
HP:0000047HP:0000047Hypospadias0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000047HP:0000047Hypospadias0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000047HP:0000047Hypospadias0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0000047HP:0000047Hypospadias0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000047HP:0000047Hypospadias0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000047HP:0000047Hypospadias0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040283 - Occasional25
HP:0000047HP:0000047Hypospadias0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000047HP:0000047Hypospadias0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0000047HP:0000047Hypospadias0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000047HP:0000047Hypospadias0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000047HP:0000047Hypospadias0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000047HP:0000047Hypospadias0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0000047HP:0000047Hypospadias0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000047HP:0000047Hypospadias0WNT4 CL E G H5436112783OMIM:61181246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs.4
HP:0000047HP:0000047Hypospadias0WNT4 CL E G H5436112783ORPHA:139466SERKAL syndromeHP:0040282 - Frequent4
HP:0000047HP:0000047Hypospadias0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000047HP:0000047Hypospadias0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000047HP:0000047Hypospadias0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000047HP:0000047Hypospadias0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent177
HP:0000047HP:0000047Hypospadias0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0000047HP:0000047Hypospadias0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000047HP:0000047Hypospadias0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000047HP:0000047Hypospadias0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000047HP:0000047Hypospadias0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000047HP:0000047Hypospadias0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0000047HP:0000047Hypospadias0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000047HP:0000047Hypospadias0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional83
HP:0000047HP:0000047Hypospadias0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000047HP:0000047Hypospadias0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000047HP:0000047Hypospadias0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000047HP:0012853Scrotal hypospadias1 CL E G H
HP:0000047HP:0000051Perineal hypospadias1AR CL E G H367644OMIM:300633Hypospadias 1, X-linked.125
HP:0000047HP:0000051Perineal hypospadias1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0000047HP:0000051Perineal hypospadias1AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000047HP:0000808Penoscrotal hypospadias1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000047HP:0000808Penoscrotal hypospadias1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000047HP:0000808Penoscrotal hypospadias1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000047HP:0000808Penoscrotal hypospadias1COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0000047HP:0012854Midshaft hypospadias1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040283 - Occasional31
HP:0000047HP:0012854Midshaft hypospadias1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040283 - Occasional31
HP:0000047HP:0000808Penoscrotal hypospadias1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000047HP:0000051Perineal hypospadias1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0000047HP:0003244Penile hypospadias1EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000047HP:0008743Coronal hypospadias1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000047HP:0008743Coronal hypospadias1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000047HP:0008743Coronal hypospadias1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000047HP:0000051Perineal hypospadias1GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease.87
HP:0000047HP:0003244Penile hypospadias1HNRNPH1 CL E G H31875041OMIM:620083
HP:0000047HP:0000807Glandular hypospadias1HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0000047HP:0000808Penoscrotal hypospadias1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0000047HP:0000808Penoscrotal hypospadias1MAMLD1 CL E G H100462568OMIM:300758Hypospadias 2, X-linked.5
HP:0000047HP:0000807Glandular hypospadias1MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000047HP:0003244Penile hypospadias1MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000047HP:0000808Penoscrotal hypospadias1MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000047HP:0000807Glandular hypospadias1MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040282 - Frequent69
HP:0000047HP:0000807Glandular hypospadias1MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000047HP:0000808Penoscrotal hypospadias1MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000047HP:0003244Penile hypospadias1MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000047HP:0000807Glandular hypospadias1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0000047HP:0000807Glandular hypospadias1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0000047HP:0000808Penoscrotal hypospadias1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0000047HP:0000808Penoscrotal hypospadias1NR5A1 CL E G H25167983OMIM:61748046,xx sex reversal 4.38
HP:0000047HP:0000808Penoscrotal hypospadias1NR5A1 CL E G H25167983OMIM:61296546XY sex reversal 338
HP:0000047HP:0008743Coronal hypospadias1PAICS CL E G H106068587OMIM:619859
HP:0000047HP:0000807Glandular hypospadias1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000047HP:0000051Perineal hypospadias1SRD5A2 CL E G H671611285ORPHA:75346,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyHP:0040281 - Very frequent86
HP:0000047HP:0000051Perineal hypospadias1SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0000047HP:0000808Penoscrotal hypospadias1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040282 - Frequent23
HP:0000047HP:0008743Coronal hypospadias1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040281 - Very frequent28


Genes (355) :ABL1 ACTA1 ADA2 ADAT3 AFF4 ALG12 APC2 AR ARCN1 ARID1A ARID1B ARID2 ARVCF ARX ATP6AP2 ATR ATRX B3GLCT B9D2 BCOR BICRA BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B CARS1 CASZ1 CCDC22 CCDC8 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDKN1C CDT1 CHRNA3 CHRNG CILK1 COG1 COL3A1 COLEC10 COLEC11 COMT COX7B CPLX1 CREBBP CSPP1 CTBP1 CUL4B CUL7 CYB5A CYP11A1 CYP17A1 CYP21A2 DACT1 DCHS1 DHCR7 DHX37 DKC1 DLL3 DMRT3 DNAJC19 DPF2 DVL1 DVL3 DYNC2LI1 DYRK1A EFNB1 EHMT1 EP300 EPG5 ERCC4 ERMARD ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXL4 FDFT1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FOCAD FOXC1 FOXF1 FRAS1 FREM2 FZD2 GABRD GATA1 GATA4 GATAD2B GLI1 GLI3 GMNN GP1BB GPC3 GPC4 GRB10 GRIP1 H19-ICR H4C11 HBA1 HBA2 HCCS HDAC8 HES7 HIRA HMGA2 HNF1B HNRNPH1 HOXA13 HOXD13 HSD3B2 HSPG2 HUWE1 HYLS1 IGF2 JMJD1C KANSL1 KARS1 KAT5 KCNAB2 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF7 KIFBP KLF1 KLHL40 KLHL41 KMT2D KRAS LETM1 LFNG LIG4 LMNA LMOD3 LSS LUZP1 MAB21L2 MAD2L2 MAMLD1 MAP2K1 MAP3K1 MAPRE2 MCTP2 MECP2 MED12 MED12L MED25 MESP2 MID1 MKKS MMP23B MNX1 MTM1 MTOR MYMK MYMX MYRF NAA10 NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NELFA NIPBL NKX2-1 NOTCH2 NR0B1 NR5A1 NSD1 NSD2 NSUN2 OBSL1 OGT ORC1 ORC4 ORC6 OTUD5 PAICS PALB2 PAX6 PCNT PDE4D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGG PIGN PITX2 PLAG1 POLE POLR3A POR PPP1R12A PQBP1 PRDM16 PRKACA PRKACB PRKAR1A PRKCZ PRPS1 PSMD12 PSPH PTDSS1 PTPN11 PUF60 RAC1 RAD21 RAD51 RAD51C RAF1 RBBP8 RERE RFWD3 RIPPLY2 RLIM RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO1 RTTN SALL1 SAMD9 SCUBE3 SEC24C SETBP1 SETD2 SETD5 SIAH1 SIN3A SIX6 SKI SKIC3 SLC25A10 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMS SOX11 SOX2 SOX4 SOX9 SPEN SPTBN1 SRCAP SRD5A2 SRY SSR4 STAR SUCLG1 SYNGAP1 TAPT1 TBX1 TBX22 TCF12 TFAP2A THOC6 TMEM63A TMEM70 TMEM94 TONSL TP63 TRIM8 TSR2 TTC8 TUBB UBA1 UBE2A UBE2T UBE4B UBR1 UFD1 USP9X VAC14 VAMP7 WASHC5 WDR35 WNT4 WNT5A WNT7A WT1 WWOX XRCC2 ZEB2 ZFPM2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699

Diseases (291) :OMIM:617602 ORPHA:171430 ORPHA:124 ORPHA:363528 ORPHA:444077 ORPHA:79324 OMIM:607143 ORPHA:821 OMIM:300633 ORPHA:90797 OMIM:312300 OMIM:617164 ORPHA:1465 OMIM:135900 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:301045 OMIM:210600 OMIM:301040 OMIM:309580 ORPHA:709 OMIM:261540 OMIM:614175 ORPHA:568 OMIM:309800 OMIM:300166 OMIM:619325 OMIM:163950 ORPHA:500 ORPHA:84 ORPHA:199 OMIM:257300 OMIM:618891 ORPHA:1606 ORPHA:7 ORPHA:2616 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:619736 ORPHA:85173 OMIM:614732 ORPHA:397590 OMIM:191800 OMIM:265000 OMIM:612651 OMIM:611209 ORPHA:286 OMIM:248340 OMIM:265050 ORPHA:2556 OMIM:309801 ORPHA:280 OMIM:194190 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:397715 OMIM:300354 OMIM:273750 ORPHA:90796 OMIM:250790 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:201910 ORPHA:857 OMIM:617466 ORPHA:314679 OMIM:601390 OMIM:270400 ORPHA:818 ORPHA:251510 OMIM:305000 ORPHA:2311 OMIM:610198 ORPHA:66634 ORPHA:3107 ORPHA:289 ORPHA:268261 ORPHA:464311 ORPHA:1520 OMIM:304110 OMIM:610253 ORPHA:353284 OMIM:242840 ORPHA:75857 ORPHA:2319 OMIM:268300 OMIM:225500 OMIM:615546 OMIM:615471 OMIM:618156 OMIM:149730 OMIM:615465 OMIM:166250 OMIM:216340 ORPHA:3472 ORPHA:90652 OMIM:304120 OMIM:619991 ORPHA:782 OMIM:265380 OMIM:219000 ORPHA:2052 OMIM:164745 ORPHA:251071 OMIM:615542 ORPHA:363686 ORPHA:36 OMIM:175700 ORPHA:672 ORPHA:93322 ORPHA:373 OMIM:312870 ORPHA:96182 OMIM:180860 OMIM:619759 ORPHA:98791 ORPHA:93111 OMIM:137920 OMIM:620083 ORPHA:2438 OMIM:140000 OMIM:176305 ORPHA:887 OMIM:201810 ORPHA:90791 OMIM:309590 OMIM:236680 OMIM:616489 ORPHA:363958 ORPHA:363965 OMIM:619147 OMIM:619103 ORPHA:477993 OMIM:618846 OMIM:618109 ORPHA:2322 OMIM:619479 OMIM:200990 ORPHA:66629 OMIM:613673 ORPHA:3339 ORPHA:235 ORPHA:1662 OMIM:618840 OMIM:615877 OMIM:300758 ORPHA:456328 OMIM:613762 ORPHA:2505 OMIM:616734 ORPHA:1596 OMIM:300260 ORPHA:1762 ORPHA:93932 OMIM:305450 OMIM:618872 OMIM:616449 ORPHA:464738 ORPHA:2745 OMIM:300000 OMIM:605231 ORPHA:2473 ORPHA:1552 ORPHA:457485 ORPHA:1358 OMIM:618280 OMIM:618253 OMIM:619272 OMIM:620135 OMIM:252010 OMIM:619334 OMIM:122470 ORPHA:209905 ORPHA:955 OMIM:102500 ORPHA:2138 OMIM:617480 OMIM:612965 OMIM:300997 OMIM:613803 OMIM:301056 OMIM:619859 OMIM:194072 OMIM:210720 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:214100 ORPHA:912 OMIM:248700 ORPHA:2461 ORPHA:2059 OMIM:180500 OMIM:618336 ORPHA:3455 OMIM:264090 OMIM:201750 ORPHA:95699 OMIM:618820 OMIM:309500 OMIM:300661 OMIM:617516 ORPHA:79350 ORPHA:2658 OMIM:151050 OMIM:151100 ORPHA:508498 OMIM:617751 ORPHA:500159 OMIM:606744 OMIM:616975 ORPHA:494344 OMIM:300978 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:612528 OMIM:610644 ORPHA:468631 OMIM:107480 OMIM:617053 OMIM:619184 OMIM:269150 ORPHA:798 OMIM:615761 OMIM:619314 ORPHA:94065 OMIM:613406 OMIM:206900 OMIM:222470 OMIM:618972 ORPHA:2588 OMIM:619293 OMIM:603457 OMIM:619268 ORPHA:3063 ORPHA:77298 OMIM:114290 OMIM:619475 OMIM:136140 ORPHA:2044 ORPHA:753 OMIM:264600 ORPHA:1772 OMIM:400045 OMIM:300934 OMIM:201710 ORPHA:17 ORPHA:544254 OMIM:616897 ORPHA:921 OMIM:302905 OMIM:619718 OMIM:113620 ORPHA:363444 OMIM:618688 OMIM:614052 ORPHA:1194 OMIM:618316 ORPHA:93357 OMIM:106260 ORPHA:1896 OMIM:129400 OMIM:619428 OMIM:615985 OMIM:301830 ORPHA:163956 OMIM:243800 ORPHA:2315 OMIM:300919 OMIM:220210 OMIM:614091 OMIM:611812 ORPHA:139466 OMIM:276820 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.