Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | | | | 826 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | | | | 175 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | | | | 132 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 132 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 125 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | | | | 29 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | | | | 97 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | | | | 182 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | C14ORF39 CL E G H | 317761 | 19849 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CCDC34 CL E G H | 91057 | 25079 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | | | | 147 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 200 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | | | | 90 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | | | | 71 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 1371 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | | | | 60 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | | | | 44 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | | | | 164 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | | | | 156 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | | | | 158 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DAZ1 CL E G H | 1617 | 2682 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DAZ2 CL E G H | 57055 | 15964 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DAZ3 CL E G H | 57054 | 15965 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DAZ4 CL E G H | 57135 | 15966 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | | | | 145 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DDX3Y CL E G H | 8653 | 2699 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:983 | Testicular regression syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 102 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | | | | 209 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | | | | 81 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | | | | 56 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 107 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FANCM CL E G H | 57697 | 23168 | OMIM:618086 | Spermatogenic failure 28 | | | | 107 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | | | | 26 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | | | | 87 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | | | | 98 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | | | | 173 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | | | | 80 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | | | | 36 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | | | | 86 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HSD3B2 CL E G H | 3284 | 5218 | OMIM:201810 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | | | | 148 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | | | | 52 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | | | | 120 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:610156 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome | | | | 111 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | | | | 111 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | | | | 99 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | | | | 81 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLHL10 CL E G H | 317719 | 18829 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | | | | 42 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LHCGR CL E G H | 3973 | 6585 | OMIM:176410 | Precocious puberty, male | | | | 67 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 43 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | | | | 88 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | | | | 62 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MCM8 CL E G H | 84515 | 16147 | OMIM:612885 | Premature ovarian failure 10 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MEIOB CL E G H | 254528 | 28569 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | | | | 75 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MNX1 CL E G H | 3110 | 4979 | ORPHA:1552 | Currarino syndrome | | | | 17 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | | | | 185 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NANOS1 CL E G H | 340719 | 23044 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NANOS1 CL E G H | 340719 | 23044 | ORPHA:399808 | Male infertility with teratozoospermia due to single gene mutation | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040284 - Very rare | | | 101 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | | | | 58 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:617480 | 46,xx sex reversal 4 | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | | | | 544 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | | | | 201 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 231 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | | | | 116 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | | | | 126 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | | | | 18 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNLDC1 CL E G H | 154197 | 21185 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNLDC1 CL E G H | 154197 | 21185 | OMIM:619528 | SPERMATOGENIC FAILURE 57; SPGF57 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | | | | 180 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | | | | 39 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | | | | 110 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | | | | 70 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | | | | 51 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | | | | 94 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | | | | 159 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RBMY1A1 CL E G H | 5940 | 9912 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | | | | 108 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | | | | 107 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | | | | 38 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | | | | 111 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | | | | 284 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | | | | 129 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | | | | 200 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RPL10L CL E G H | 140801 | 17976 | OMIM:619689 | SPERMATOGENIC FAILURE 63; SPGF63 | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | | | | 32 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | | | | 146 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | | | | 83 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOHLH1 CL E G H | 402381 | 27845 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 3 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 24 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 109 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 109 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRD5A2 CL E G H | 6716 | 11285 | ORPHA:753 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | | | | 86 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | | | | 86 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | | | | 21 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | | | | 18 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | | | | 18 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SYCE1 CL E G H | 93426 | 28852 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 4 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | SYCP3 CL E G H | 50511 | 18130 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 12 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TAF4B CL E G H | 6875 | 11538 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | | | | 52 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | | | | 100 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TDRD9 CL E G H | 122402 | 20122 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TEX11 CL E G H | 56159 | 11733 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TEX14 CL E G H | 56155 | 11737 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TEX15 CL E G H | 56154 | 11738 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TEX15 CL E G H | 56154 | 11738 | OMIM:617960 | Spermatogenic failure 25 | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | | | | 61 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | | | | 140 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TSPY1 CL E G H | 7258 | 12381 | ORPHA:1646 | Partial chromosome Y deletion | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | | | | 41 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | | | | 66 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | | | | 777 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | USP9Y CL E G H | 8287 | 12633 | ORPHA:1646 | Partial chromosome Y deletion | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 10 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | | | | 86 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 125 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619145 | SPERMATOGENIC FAILURE 50; SPGF50 | | | | 125 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZMYND15 CL E G H | 84225 | 20997 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | | | | 1 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | | | | 27 | | |
HP:0000050 | HP:0000050 | Hypoplastic male external genitalia | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 132 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 125 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | | | | 125 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | HP:0040281 - Very frequent | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 97 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | C14ORF39 CL E G H | 317761 | 19849 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CCDC34 CL E G H | 91057 | 25079 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 200 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | | | | 90 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 1371 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | HP:0040283 - Occasional | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040282 - Frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DAZ1 CL E G H | 1617 | 2682 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DAZ2 CL E G H | 57055 | 15964 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DAZ3 CL E G H | 57054 | 15965 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DAZ4 CL E G H | 57135 | 15966 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | | | | 145 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DDX3Y CL E G H | 8653 | 2699 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:983 | Testicular regression syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:983 | Testicular regression syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040282 - Frequent | | | 164 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040283 - Occasional | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 304 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | | | | 13 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 102 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 81 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 107 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FANCM CL E G H | 57697 | 23168 | OMIM:618086 | Spermatogenic failure 28 | . | | | 107 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | . | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | | | | 17 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 172 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | . | | | 23 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | | | | 87 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | | | | 173 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | . | | | 80 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | . | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HSD3B2 CL E G H | 3284 | 5218 | OMIM:201810 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 65 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:610156 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome | | | | 111 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | | | | 111 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040281 - Very frequent | | | 141 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KDM5C CL E G H | 8242 | 11114 | ORPHA:85279 | Syndromic X-linked intellectual disability due to JARID1C mutation | HP:0040283 - Occasional | | | 81 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | KLHL10 CL E G H | 317719 | 18829 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 136 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | LHCGR CL E G H | 3973 | 6585 | OMIM:176410 | Precocious puberty, male | . | | | 67 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | | | | 88 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 252 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MCM8 CL E G H | 84515 | 16147 | OMIM:612885 | Premature ovarian failure 10 | . | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | MEIOB CL E G H | 254528 | 28569 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MNX1 CL E G H | 3110 | 4979 | ORPHA:1552 | Currarino syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | | | | 185 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NANOS1 CL E G H | 340719 | 23044 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NANOS1 CL E G H | 340719 | 23044 | ORPHA:399808 | Male infertility with teratozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NR5A1 CL E G H | 2516 | 7983 | OMIM:617480 | 46,xx sex reversal 4 | | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | | | | 41 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 41 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | | | | 2 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040282 - Frequent | | | 23 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PNLDC1 CL E G H | 154197 | 21185 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PNLDC1 CL E G H | 154197 | 21185 | OMIM:619528 | SPERMATOGENIC FAILURE 57; SPGF57 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | . | | | 103 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040282 - Frequent | | | 103 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 180 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 213 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 221 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040282 - Frequent | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RBMY1A1 CL E G H | 5940 | 9912 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RPL10L CL E G H | 140801 | 17976 | OMIM:619689 | SPERMATOGENIC FAILURE 63; SPGF63 | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | . | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 174 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOHLH1 CL E G H | 402381 | 27845 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 33 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 24 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 24 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SRD5A2 CL E G H | 6716 | 11285 | ORPHA:753 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | HP:0040281 - Very frequent | | | 86 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRD5A2 CL E G H | 6716 | 11285 | ORPHA:753 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | HP:0040281 - Very frequent | | | 86 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | | | | 86 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | | | | 21 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040282 - Frequent | | | 21 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | | | | 18 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | | | | 18 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040282 - Frequent | | | 18 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SYCE1 CL E G H | 93426 | 28852 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | SYCP3 CL E G H | 50511 | 18130 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 12 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | . | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TAF4B CL E G H | 6875 | 11538 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TDRD9 CL E G H | 122402 | 20122 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TEX11 CL E G H | 56159 | 11733 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TEX14 CL E G H | 56155 | 11737 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TEX15 CL E G H | 56154 | 11738 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TEX15 CL E G H | 56154 | 11738 | OMIM:617960 | Spermatogenic failure 25 | . | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 140 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TSPY1 CL E G H | 7258 | 12381 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | USP9Y CL E G H | 8287 | 12633 | ORPHA:1646 | Partial chromosome Y deletion | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | HP:0040283 - Occasional | | | 10 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040282 - Frequent | | | 136 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040283 - Occasional | | | 13 | | |
HP:0000050 | HP:0000046 | Small scrotum | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 125 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619145 | SPERMATOGENIC FAILURE 50; SPGF50 | | | | 125 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ZMYND15 CL E G H | 84225 | 20997 | ORPHA:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000050 | HP:0008734 | Decreased testicular size | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0000050 | HP:0008736 | Hypoplasia of penis | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | . | | | 125 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | . | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | . | | | 90 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | . | | | 145 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | . | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | . | | | 87 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | . | | | 87 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | . | | | 173 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | . | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HSD3B2 CL E G H | 3284 | 5218 | OMIM:201810 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | . | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | INPP5E CL E G H | 56623 | 21474 | OMIM:610156 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome | . | | | 111 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KLHL15 CL E G H | 80311 | 29347 | OMIM:300982 | MENTAL RETARDATION, X-LINKED 103; MRX103 | | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040282 - Frequent | | | 185 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | HP:0040283 - Occasional | | | 101 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NR5A1 CL E G H | 2516 | 7983 | OMIM:617480 | 46,xx sex reversal 4 | . | | | 38 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | HP:0040283 - Occasional | | | 41 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | . | | | 103 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | HP:0040284 - Very rare | | | 1129 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | . | | | | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | . | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | . | | | 86 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040282 - Frequent | | | 23 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040282 - Frequent | | | 21 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040282 - Frequent | | | 18 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | . | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | . | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0000050 | HP:0030260 | Microphallus | 2 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | . | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040284 - Very rare | | | 362 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000050 | HP:0000054 | Micropenis | 2 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |