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:0000048 | HP:0000048 | Bifid scrotum | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | . | | | 125 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | . | | | 3 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | . | | | 2 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | . | | | 175 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040282 - Frequent | | | | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | HSD3B2 CL E G H | 3284 | 5218 | OMIM:201810 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | . | | | 34 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MNX1 CL E G H | 3110 | 4979 | ORPHA:1552 | Currarino syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040282 - Frequent | | | 185 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | 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:0000048 | HP:0000048 | Bifid scrotum | 0 | SRD5A2 CL E G H | 6716 | 11285 | OMIM:264600 | Pseudovaginal perineoscrotal hypospadias | . | | | 86 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | UPB1 CL E G H | 51733 | 16297 | OMIM:613161 | Beta-Ureidopropionase deficiency | | | | 44 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |
HP:0000048 | HP:0000048 | Bifid scrotum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040284 - Very rare | | | 362 | | |