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
..expandPenoscrotal transposition (HP:0100600) help
..expandProminent scrotal raphe (HP:0003246) help
..expandScrotal hyperpigmentation (HP:0012855) help
..expandScrotal hypoplasia (HP:0000046) help
..expandScrotal pain (HP:0030155) help
..expandShawl scrotum (HP:0000049) help
..expandSmall scrotum (HP:0030276) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000048HP:0000048Bifid scrotum0AR CL E G H36790797ORPHA1627400644313700
HP:0000048HP:0000048Bifid scrotum0AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1627400644313700
HP:0000048HP:0000048Bifid scrotum0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000048HP:0000048Bifid scrotum0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000048HP:0000048Bifid scrotum0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000048HP:0000048Bifid scrotum0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000048HP:0000048Bifid scrotum0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM171422570613218
HP:0000048HP:0000048Bifid scrotum0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000048HP:0000048Bifid scrotum0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000048HP:0000048Bifid scrotum0FGFR2 CL E G H22631555ORPHA11593363689176943
HP:0000048HP:0000048Bifid scrotum0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000048HP:0000048Bifid scrotum0FZD2 CL E G H253593328ORPHA17304040600667
HP:0000048HP:0000048Bifid scrotum0HOXA13 CL E G H3209140000Hand foot uterus syndrome140000C1841679OMIM130635102142959
HP:0000048HP:0000048Bifid scrotum0HSD3B2 CL E G H328490791ORPHA163925218613890
HP:0000048HP:0000048Bifid scrotum0HSD3B2 CL E G H32842018103 beta-Hydroxysteroid dehydrogenase deficiency201810C0342471OMIM163925218613890
HP:0000048HP:0000048Bifid scrotum0IRF6 CL E G H36641300ORPHA13422046121607199
HP:0000048HP:0000048Bifid scrotum0IRF6 CL E G H3664119500Popliteal pterygium syndrome119500C0265259OMIM13422046121607199
HP:0000048HP:0000048Bifid scrotum0MYRF CL E G H745618280618280618280OMIM17321181608329
HP:0000048HP:0000048Bifid scrotum0NR5A1 CL E G H25162138ORPHA11891057983184757
HP:0000048HP:0000048Bifid scrotum0POR CL E G H544795699ORPHA1922259208124015
HP:0000048HP:0000048Bifid scrotum0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000048HP:0000048Bifid scrotum0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0000048HP:0000048Bifid scrotum0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000048HP:0000048Bifid scrotum0SOX9 CL E G H66622138ORPHA114915511204608160
HP:0000048HP:0000048Bifid scrotum0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000048HP:0000048Bifid scrotum0SRD5A2 CL E G H6716753ORPHA113117211285607306
HP:0000048HP:0000048Bifid scrotum0SRD5A2 CL E G H67162646003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency264600C0268297OMIM113117211285607306
HP:0000048HP:0000048Bifid scrotum0SRY CL E G H67362138ORPHA11099611311480000
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000048HP:0000048Bifid scrotum0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000048HP:0000048Bifid scrotum0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000048HP:0000048Bifid scrotum0HOXD13 CL E G H3239887Biliary atresia intrahepatic non syndromic formORPHA042715136142989
HP:0000048HP:0000048Bifid scrotum0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000048HP:0000048Bifid scrotum0MNX1 CL E G H31101552ORPHA0801064979142994
HP:0000048HP:0000048Bifid scrotum0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000048HP:0000048Bifid scrotum0SRY CL E G H67361772ORPHA01099611311480000
HP:0000048HP:0000048Bifid scrotum0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM01716816297606673
HP:0000048HP:0000048Bifid scrotum0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM029861314881605802


Genes (29) :AR BMP4 BUB1B CDH11 CHD7 COLEC10 CYB5A DACT1 DHCR7 FAT4 FGFR2 FZD2 HOXA13 HOXD13 HSD3B2 IRF6 KIF1BP MNX1 MYRF NR5A1 POR SALL1 SEMA3E SOX9 SPECC1L SRD5A2 SRY UPB1 ZEB2

Diseases (33) :90797 312300 607932 257300 211380 138 248340 250790 857 270400 615546 1555 123790 93328 140000 887 90791 201810 1300 119500 66629 1552 618280 2138 95699 201750 107480 145410 753 264600 1772 613161 235730
 

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