Human Phenotype Ontology 
Grandparent Node:
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Abnormality of male external genitalia (HP:0000032)help
Parent Node:
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Abnormality of the scrotum (HP:0000045)help
..Starting node
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Bifid scrotum (HP:0000048)help
Term ID: 48
Name: Bifid scrotum
Synonym: Cleft of scrotum; Scrotal cleft
Definition: Midline indentation or cleft of the scrotum.
Comments:
Reference: HP:0000048
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal scrotal rugation (HP:0012856) help
..expandAbsent scrotum (HP:0008707) help
..expandAccessory scrotum (HP:0030274) help
..expandEctopic scrotum (HP:0030275) help
..expandNeoplasm of the scrotum (HP:0100849) help
..expandobsolete Small scrotum (HP:0030276) help
..expandPenoscrotal transposition (HP:0100600) help
..expandProminent scrotal raphe (HP:0003246) help
..expandScrotal hyperpigmentation (HP:0012855) help
..expandScrotal pain (HP:0030155) help
..expandShawl scrotum (HP:0000049) help
..expandSmall scrotum (HP:0000046) help
..expandVaginal hematocele (HP:0100674) help
..expandVaginal hydrocele (HP:0100673) help
..expandVaginal lymphocele (HP:0100676) help
..expandVaginal pyocele (HP:0100675) help
..expandVaricocele (HP:0012871) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000048HP:0000048Bifid scrotum0AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional125
HP:0000048HP:0000048Bifid scrotum0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0000048HP:0000048Bifid scrotum0AR CL E G H367644OMIM:312300Reifenstein syndrome.125
HP:0000048HP:0000048Bifid scrotum0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000048HP:0000048Bifid scrotum0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000048HP:0000048Bifid scrotum0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0000048HP:0000048Bifid scrotum0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000048HP:0000048Bifid scrotum0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0000048HP:0000048Bifid scrotum0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0000048HP:0000048Bifid scrotum0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0000048HP:0000048Bifid scrotum0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000048HP:0000048Bifid scrotum0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000048HP:0000048Bifid scrotum0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000048HP:0000048Bifid scrotum0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000048HP:0000048Bifid scrotum0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040282 - Frequent175
HP:0000048HP:0000048Bifid scrotum0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040282 - Frequent
HP:0000048HP:0000048Bifid scrotum0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0000048HP:0000048Bifid scrotum0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0000048HP:0000048Bifid scrotum0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000048HP:0000048Bifid scrotum0HSD3B2 CL E G H32845218OMIM:201810Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.34
HP:0000048HP:0000048Bifid scrotum0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0000048HP:0000048Bifid scrotum0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0000048HP:0000048Bifid scrotum0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000048HP:0000048Bifid scrotum0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0000048HP:0000048Bifid scrotum0MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional5
HP:0000048HP:0000048Bifid scrotum0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000048HP:0000048Bifid scrotum0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0000048HP:0000048Bifid scrotum0MNX1 CL E G H31104979ORPHA:1552Currarino syndromeHP:0040283 - Occasional17
HP:0000048HP:0000048Bifid scrotum0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000048HP:0000048Bifid scrotum0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0000048HP:0000048Bifid scrotum0NR5A1 CL E G H25167983ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000048HP:0000048Bifid scrotum0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0000048HP:0000048Bifid scrotum0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000048HP:0000048Bifid scrotum0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0000048HP:0000048Bifid scrotum0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000048HP:0000048Bifid scrotum0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000048HP:0000048Bifid scrotum0SOX9 CL E G H666211204ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000048HP:0000048Bifid scrotum0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000048HP:0000048Bifid scrotum0SRD5A2 CL E G H671611285ORPHA:75346,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyHP:0040281 - Very frequent86
HP:0000048HP:0000048Bifid scrotum0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0000048HP:0000048Bifid scrotum0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000048HP:0000048Bifid scrotum0SRY CL E G H673611311ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000048HP:0000048Bifid scrotum0UPB1 CL E G H5173316297OMIM:613161Beta-Ureidopropionase deficiency44
HP:0000048HP:0000048Bifid scrotum0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000048HP:0000048Bifid scrotum0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040284 - Very rare362
HP:0000048HP:0000048Bifid scrotum0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040284 - Very rare362


Genes (36) :AR BUB1B CDH11 CDKN1C CHD7 COLEC10 CYB5A CYP17A1 DACT1 DHCR7 FAT4 FGFR2 FZD2 HMGA2 HOXA13 HOXD13 HSD3B2 IGF2 IRF6 KIFBP MAMLD1 MID1 MNX1 MTM1 MYRF NR5A1 PLAG1 POR SALL1 SEMA3E SOX9 SPTBN1 SRD5A2 SRY UPB1 ZEB2

Diseases (37) :ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:257300 OMIM:211380 ORPHA:397590 ORPHA:138 OMIM:248340 OMIM:250790 ORPHA:90793 ORPHA:857 OMIM:270400 OMIM:615546 OMIM:123790 ORPHA:1555 ORPHA:93328 OMIM:140000 ORPHA:887 OMIM:201810 ORPHA:1300 OMIM:119500 ORPHA:66629 ORPHA:456328 ORPHA:2745 ORPHA:1552 OMIM:618280 ORPHA:2138 OMIM:201750 OMIM:107480 OMIM:619475 ORPHA:753 OMIM:264600 ORPHA:1772 OMIM:613161 OMIM:235730 ORPHA:261552 ORPHA:261537
 

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