Human Phenotype Ontology 
Grandparent Node:
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Abdominal wall defect (HP:0010866)help
Grandparent Node:
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Hernia (HP:0100790)help
Parent Node:
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Abnormal umbilicus morphology (HP:0001551)help
Parent Node:
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Hernia of the abdominal wall (HP:0004299)help
..Starting node
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Umbilical hernia (HP:0001537)help
Term ID: 1537
Name: Umbilical hernia
Synonym: Umbilical hernias
Definition: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Comments:
Reference: HP:0001537
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFemoral hernia (HP:0100541) help
..expandIncisional hernia (HP:0004872) help
..expandInguinal hernia (HP:0000023) help
..expandOmphalocele (HP:0001539) help
..expandVentral hernia (HP:0002933) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001537HP:0001537Umbilical hernia0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0001537HP:0001537Umbilical hernia0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0001537HP:0001537Umbilical hernia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0001537HP:0001537Umbilical hernia0AGA CL E G H17593ORPHA138239318613228
HP:0001537HP:0001537Umbilical hernia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0001537HP:0001537Umbilical hernia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001537HP:0001537Umbilical hernia0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0001537HP:0001537Umbilical hernia0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001537HP:0001537Umbilical hernia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001537HP:0001537Umbilical hernia0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0001537HP:0001537Umbilical hernia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM132625903614452
HP:0001537HP:0001537Umbilical hernia0ATAD1 CL E G H848963197Lateral body wall defectORPHA132625903614452
HP:0001537HP:0001537Umbilical hernia0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0001537HP:0001537Umbilical hernia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0001537HP:0001537Umbilical hernia0ATP7A CL E G H538565ORPHA1357607869300011
HP:0001537HP:0001537Umbilical hernia0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001537HP:0001537Umbilical hernia0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001537HP:0001537Umbilical hernia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0001537HP:0001537Umbilical hernia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0001537HP:0001537Umbilical hernia0C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM110841247120580
HP:0001537HP:0001537Umbilical hernia0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0001537HP:0001537Umbilical hernia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0001537HP:0001537Umbilical hernia0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0001537HP:0001537Umbilical hernia0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0001537HP:0001537Umbilical hernia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001537HP:0001537Umbilical hernia0COL1A1 CL E G H1277287ORPHA196711052197120150
HP:0001537HP:0001537Umbilical hernia0COL2A1 CL E G H128093296ORPHA15707312200120140
HP:0001537HP:0001537Umbilical hernia0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0001537HP:0001537Umbilical hernia0COL5A1 CL E G H1289287ORPHA115916302209120215
HP:0001537HP:0001537Umbilical hernia0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0001537HP:0001537Umbilical hernia0COL5A2 CL E G H1290287ORPHA1397932210120190
HP:0001537HP:0001537Umbilical hernia0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0001537HP:0001537Umbilical hernia0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0001537HP:0001537Umbilical hernia0DVL1 CL E G H18553107ORPHA1192443084601365
HP:0001537HP:0001537Umbilical hernia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0001537HP:0001537Umbilical hernia0DVL3 CL E G H18573107ORPHA115773087601368
HP:0001537HP:0001537Umbilical hernia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0001537HP:0001537Umbilical hernia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0001537HP:0001537Umbilical hernia0ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM152017233606421
HP:0001537HP:0001537Umbilical hernia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001537HP:0001537Umbilical hernia0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM1231423602604580
HP:0001537HP:0001537Umbilical hernia0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0001537HP:0001537Umbilical hernia0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0001537HP:0001537Umbilical hernia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0001537HP:0001537Umbilical hernia0FZD2 CL E G H25353107ORPHA17304040600667
HP:0001537HP:0001537Umbilical hernia0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM1721994326138491
HP:0001537HP:0001537Umbilical hernia0GLRA1 CL E G H27413197Lateral body wall defectORPHA1721994326138491
HP:0001537HP:0001537Umbilical hernia0GLRB CL E G H27433197Lateral body wall defectORPHA1191254329138492
HP:0001537HP:0001537Umbilical hernia0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0001537HP:0001537Umbilical hernia0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0001537HP:0001537Umbilical hernia0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0001537HP:0001537Umbilical hernia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001537HP:0001537Umbilical hernia0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0001537HP:0001537Umbilical hernia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001537HP:0001537Umbilical hernia0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM192484454604404
HP:0001537HP:0001537Umbilical hernia0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM12015515465603930
HP:0001537HP:0001537Umbilical hernia0GPHN CL E G H102433197Lateral body wall defectORPHA12015515465603930
HP:0001537HP:0001537Umbilical hernia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0001537HP:0001537Umbilical hernia0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0001537HP:0001537Umbilical hernia0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0001537HP:0001537Umbilical hernia0HESX1 CL E G H8820226307ORPHA127464877601802
HP:0001537HP:0001537Umbilical hernia0HSPG2 CL E G H33391865ORPHA1678625273142461
HP:0001537HP:0001537Umbilical hernia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0001537HP:0001537Umbilical hernia0HYMAI CL E G H5706196191ORPHA1155326606546
HP:0001537HP:0001537Umbilical hernia0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001537HP:0001537Umbilical hernia0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0001537HP:0001537Umbilical hernia0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0001537HP:0001537Umbilical hernia0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0001537HP:0001537Umbilical hernia0ISL1 CL E G H367093930ORPHA17196132600366
HP:0001537HP:0001537Umbilical hernia0IYD CL E G H38943495716ORPHA154621071612025
HP:0001537HP:0001537Umbilical hernia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0001537HP:0001537Umbilical hernia0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0001537HP:0001537Umbilical hernia0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001537HP:0001537Umbilical hernia0LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0001537HP:0001537Umbilical hernia0LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0001537HP:0001537Umbilical hernia0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0001537HP:0001537Umbilical hernia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM1182396717604710
HP:0001537HP:0001537Umbilical hernia0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0001537HP:0001537Umbilical hernia0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001537HP:0001537Umbilical hernia0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0001537HP:0001537Umbilical hernia0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM16524719082611549
HP:0001537HP:0001537Umbilical hernia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0001537HP:0001537Umbilical hernia0NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0001537HP:0001537Umbilical hernia0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0001537HP:0001537Umbilical hernia0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0001537HP:0001537Umbilical hernia0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0001537HP:0001537Umbilical hernia0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM13125613398300275
HP:0001537HP:0001537Umbilical hernia0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0001537HP:0001537Umbilical hernia0PAX8 CL E G H784995712ORPHA1511438622167415
HP:0001537HP:0001537Umbilical hernia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001537HP:0001537Umbilical hernia0PLAGL1 CL E G H532596191ORPHA12299046603044
HP:0001537HP:0001537Umbilical hernia0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0001537HP:0001537Umbilical hernia0POU1F1 CL E G H5449226307ORPHA146729210173110
HP:0001537HP:0001537Umbilical hernia0PROP1 CL E G H5626226307ORPHA1421509455601538
HP:0001537HP:0001537Umbilical hernia0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0001537HP:0001537Umbilical hernia0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0001537HP:0001537Umbilical hernia0RIN2 CL E G H54453217335ORPHA1415518750610222
HP:0001537HP:0001537Umbilical hernia0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0001537HP:0001537Umbilical hernia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0001537HP:0001537Umbilical hernia0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0001537HP:0001537Umbilical hernia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0001537HP:0001537Umbilical hernia0SKI CL E G H64972462ORPHA12450210896164780
HP:0001537HP:0001537Umbilical hernia0SLC25A24 CL E G H299572963ORPHA123520662608744
HP:0001537HP:0001537Umbilical hernia0SLC25A24 CL E G H299572095ORPHA123520662608744
HP:0001537HP:0001537Umbilical hernia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0001537HP:0001537Umbilical hernia0SLC26A2 CL E G H183693298ORPHA15531810994606718
HP:0001537HP:0001537Umbilical hernia0SLC26A2 CL E G H1836600972Achondrogenesis, type IB600972C0265274OMIM15531810994606718
HP:0001537HP:0001537Umbilical hernia0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0001537HP:0001537Umbilical hernia0SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0001537HP:0001537Umbilical hernia0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0001537HP:0001537Umbilical hernia0SLC6A5 CL E G H91523197Lateral body wall defectORPHA13314311051604159
HP:0001537HP:0001537Umbilical hernia0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0001537HP:0001537Umbilical hernia0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM1955926769603109
HP:0001537HP:0001537Umbilical hernia0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0001537HP:0001537Umbilical hernia0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0001537HP:0001537Umbilical hernia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0001537HP:0001537Umbilical hernia0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0001537HP:0001537Umbilical hernia0TG CL E G H703895716ORPHA117242911764188450
HP:0001537HP:0001537Umbilical hernia0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0001537HP:0001537Umbilical hernia0THRA CL E G H706797927ORPHA1143411796190120
HP:0001537HP:0001537Umbilical hernia0THRB CL E G H706897927ORPHA117129511799190160
HP:0001537HP:0001537Umbilical hernia0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0001537HP:0001537Umbilical hernia0TP63 CL E G H862693930ORPHA112828215979603273
HP:0001537HP:0001537Umbilical hernia0TPO CL E G H717395716ORPHA114725012015606765
HP:0001537HP:0001537Umbilical hernia0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0001537HP:0001537Umbilical hernia0TRHR CL E G H720199832ORPHA174912299188545
HP:0001537HP:0001537Umbilical hernia0TRIP11 CL E G H932193299ORPHA11731512305604505
HP:0001537HP:0001537Umbilical hernia0TSHB CL E G H725290674ORPHA1142512372188540
HP:0001537HP:0001537Umbilical hernia0TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM1142512372188540
HP:0001537HP:0001537Umbilical hernia0TSHR CL E G H725390673ORPHA116117812373603372
HP:0001537HP:0001537Umbilical hernia0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0001537HP:0001537Umbilical hernia0WNT5A CL E G H74743107ORPHA1115812784164975
HP:0001537HP:0001537Umbilical hernia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001537HP:0001537Umbilical hernia0ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA02049145102545
HP:0001537HP:0001537Umbilical hernia0ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA02049145102545
HP:0001537HP:0001537Umbilical hernia0ALDH18A1 CL E G H583290348ORPHA0332529722138250
HP:0001537HP:0001537Umbilical hernia0ARVCF CL E G H421567ORPHA02477728602269
HP:0001537HP:0001537Umbilical hernia0B3GLCT CL E G H145173709ORPHA01518120207610308
HP:0001537HP:0001537Umbilical hernia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001537HP:0001537Umbilical hernia0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0001537HP:0001537Umbilical hernia0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM0212231067112264
HP:0001537HP:0001537Umbilical hernia0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0001537HP:0001537Umbilical hernia0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0001537HP:0001537Umbilical hernia0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0001537HP:0001537Umbilical hernia0CDCA7 CL E G H838792268ORPHA064614628609937
HP:0001537HP:0001537Umbilical hernia0CDH11 CL E G H10091299ORPHA010401750600023
HP:0001537HP:0001537Umbilical hernia0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA021962040610036
HP:0001537HP:0001537Umbilical hernia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001537HP:0001537Umbilical hernia0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA064516472201120180
HP:0001537HP:0001537Umbilical hernia0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA015916302209120215
HP:0001537HP:0001537Umbilical hernia0COLEC10 CL E G H10584293843ORPHA04532220607620
HP:0001537HP:0001537Umbilical hernia0COLEC11 CL E G H78989293843ORPHA0135917213612502
HP:0001537HP:0001537Umbilical hernia0COMT CL E G H1312567ORPHA0155552228116790
HP:0001537HP:0001537Umbilical hernia0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM033902845600594
HP:0001537HP:0001537Umbilical hernia0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM033172846601279
HP:0001537HP:0001537Umbilical hernia0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM023812847609030
HP:0001537HP:0001537Umbilical hernia0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0001537HP:0001537Umbilical hernia0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM0511682978602769
HP:0001537HP:0001537Umbilical hernia0DNMT3B CL E G H17892268ORPHA0572672979602900
HP:0001537HP:0001537Umbilical hernia0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM0192443084601365
HP:0001537HP:0001537Umbilical hernia0ELN CL E G H200690348ORPHA01275233327130160
HP:0001537HP:0001537Umbilical hernia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001537HP:0001537Umbilical hernia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01275233327130160
HP:0001537HP:0001537Umbilical hernia0EOGT CL E G H285203615297Adams-Oliver syndrome 4615297C3809092OMIM095128526614789
HP:0001537HP:0001537Umbilical hernia0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0001537HP:0001537Umbilical hernia0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM0138216817601755
HP:0001537HP:0001537Umbilical hernia0FANCA CL E G H217584ORPHA068917063582607139
HP:0001537HP:0001537Umbilical hernia0FANCB CL E G H218784ORPHA0213523583300515
HP:0001537HP:0001537Umbilical hernia0FANCC CL E G H217684ORPHA0658823584613899
HP:0001537HP:0001537Umbilical hernia0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0001537HP:0001537Umbilical hernia0FANCE CL E G H217884ORPHA0172013586613976
HP:0001537HP:0001537Umbilical hernia0FANCF CL E G H218884ORPHA0162023587613897
HP:0001537HP:0001537Umbilical hernia0FANCG CL E G H218984ORPHA0923253588602956
HP:0001537HP:0001537Umbilical hernia0FANCI CL E G H5521584ORPHA04552125568611360
HP:0001537HP:0001537Umbilical hernia0FANCL CL E G H5512084ORPHA02417620748608111
HP:0001537HP:0001537Umbilical hernia0FANCM CL E G H5769784ORPHA05369723168609644
HP:0001537HP:0001537Umbilical hernia0FBLN5 CL E G H1051690348ORPHA0231423602604580
HP:0001537HP:0001537Umbilical hernia0FGFR2 CL E G H22631555ORPHA01593363689176943
HP:0001537HP:0001537Umbilical hernia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM068618625614505
HP:0001537HP:0001537Umbilical hernia0FOXE3 CL E G H230188632ORPHA031863808601094
HP:0001537HP:0001537Umbilical hernia0FRAS1 CL E G H801442052ORPHA06167519185607830
HP:0001537HP:0001537Umbilical hernia0FREM2 CL E G H3416402052ORPHA02551025396608945
HP:0001537HP:0001537Umbilical hernia0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA0851724174601656
HP:0001537HP:0001537Umbilical hernia0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM0851724174601656
HP:0001537HP:0001537Umbilical hernia0GJA1 CL E G H26972710Hm syndromeORPHA01091414274121014
HP:0001537HP:0001537Umbilical hernia0GLI3 CL E G H2737380ORPHA02445374319165240
HP:0001537HP:0001537Umbilical hernia0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA02445374319165240
HP:0001537HP:0001537Umbilical hernia0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0001537HP:0001537Umbilical hernia0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM01946328510610192
HP:0001537HP:0001537Umbilical hernia0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0001537HP:0001537Umbilical hernia0GRIP1 CL E G H234262052ORPHA01815918708604597
HP:0001537HP:0001537Umbilical hernia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001537HP:0001537Umbilical hernia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001537HP:0001537Umbilical hernia0HELLS CL E G H30702268ORPHA06514861603946
HP:0001537HP:0001537Umbilical hernia0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0001537HP:0001537Umbilical hernia0HIRA CL E G H7290567ORPHA053994916600237
HP:0001537HP:0001537Umbilical hernia0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0001537HP:0001537Umbilical hernia0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0001537HP:0001537Umbilical hernia0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0001537HP:0001537Umbilical hernia0LBR CL E G H3930169400Pelger-Hu√ęt anomaly169400C0030779OMIM0281726518600024
HP:0001537HP:0001537Umbilical hernia0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0001537HP:0001537Umbilical hernia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001537HP:0001537Umbilical hernia0LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA01246647602715
HP:0001537HP:0001537Umbilical hernia0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0001537HP:0001537Umbilical hernia0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0001537HP:0001537Umbilical hernia0MAPRE2 CL E G H109822505ORPHA04606891605789
HP:0001537HP:0001537Umbilical hernia0MASP1 CL E G H5648293843ORPHA0221226901600521
HP:0001537HP:0001537Umbilical hernia0MEGF8 CL E G H195465759ORPHA0192253233604267
HP:0001537HP:0001537Umbilical hernia0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM0192253233604267
HP:0001537HP:0001537Umbilical hernia0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0001537HP:0001537Umbilical hernia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0619712744605678
HP:0001537HP:0001537Umbilical hernia0MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA06919907569160745
HP:0001537HP:0001537Umbilical hernia0MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA0438927590600922
HP:0001537HP:0001537Umbilical hernia0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM012414777881190198
HP:0001537HP:0001537Umbilical hernia0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0001537HP:0001537Umbilical hernia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0001537HP:0001537Umbilical hernia0OCRL CL E G H4952300555Dent disease 2300555C1845167OMIM02643428108300535
HP:0001537HP:0001537Umbilical hernia0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0001537HP:0001537Umbilical hernia0PHGDH CL E G H2622779351ORPHA0231458923606879
HP:0001537HP:0001537Umbilical hernia0PITX3 CL E G H530988632ORPHA015299006602669
HP:0001537HP:0001537Umbilical hernia0PORCN CL E G H648402092EhrlichiosisORPHA012121017652300651
HP:0001537HP:0001537Umbilical hernia0PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM0131319349614161
HP:0001537HP:0001537Umbilical hernia0RAB23 CL E G H5171565759ORPHA01510514263606144
HP:0001537HP:0001537Umbilical hernia0RAD51 CL E G H588884ORPHA016369817179617
HP:0001537HP:0001537Umbilical hernia0RAD51C CL E G H588984ORPHA013111309820602774
HP:0001537HP:0001537Umbilical hernia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001537HP:0001537Umbilical hernia0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0001537HP:0001537Umbilical hernia0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM0415518750610222
HP:0001537HP:0001537Umbilical hernia0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0001537HP:0001537Umbilical hernia0RREB1 CL E G H6239567ORPHA01217110449602209
HP:0001537HP:0001537Umbilical hernia0SEC24C CL E G H9632567ORPHA02410705607185
HP:0001537HP:0001537Umbilical hernia0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0001537HP:0001537Umbilical hernia0SH3PXD2B CL E G H285590137834ORPHA02026629242613293
HP:0001537HP:0001537Umbilical hernia0SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0001537HP:0001537Umbilical hernia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0001537HP:0001537Umbilical hernia0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0001537HP:0001537Umbilical hernia0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0001537HP:0001537Umbilical hernia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001537HP:0001537Umbilical hernia0TBX1 CL E G H6899567ORPHA08255311592602054
HP:0001537HP:0001537Umbilical hernia0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM08255311592602054
HP:0001537HP:0001537Umbilical hernia0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM042518345611357
HP:0001537HP:0001537Umbilical hernia0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM014857211773190182
HP:0001537HP:0001537Umbilical hernia0TNXB CL E G H7148285Impossible syndromeORPHA03824411976600985
HP:0001537HP:0001537Umbilical hernia0TUBB CL E G H2030682505ORPHA083320778191130
HP:0001537HP:0001537Umbilical hernia0UBE2T CL E G H2908984ORPHA071825009610538
HP:0001537HP:0001537Umbilical hernia0UFD1 CL E G H7353567ORPHA0436812520601754
HP:0001537HP:0001537Umbilical hernia0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0001537HP:0001537Umbilical hernia0ZBTB24 CL E G H98412268ORPHA01813421143614064


Genes (199) :ABCC9 ACTG2 ADAMTS2 AGA AGPAT2 ALDH18A1 ANTXR1 ARID1B ARSB ARVCF ATAD1 ATP6V0A2 ATP7A ATRX B3GLCT BAZ1B BCL11B BCOR BMP1 BRCA1 BRCA2 BRIP1 BSCL2 C1S CCBE1 CDCA7 CDH11 CHD7 CHRNG CHST14 CLDN19 CLIP2 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT DGCR2 DGCR6 DGCR8 DLL3 DNMT3A DNMT3B DUOX2 DUOXA2 DVL1 DVL3 EFNB1 ELMO2 ELN EOGT ERCC4 ESS2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FGD1 FGFR2 FKBP14 FOXE3 FRAS1 FREM2 FTO FZD2 GATA6 GJA1 GLI3 GLIS3 GLRA1 GLRB GMNN GNPTAB GP1BB GPC3 GPC4 GPC6 GPHN GRIP1 GTF2I GTF2IRD1 GUSB HDAC4 HELLS HES7 HESX1 HIRA HSPG2 HYMAI IDS IDUA IKBKG INSR ISL1 IYD JMJD1C KCNH1 KCNJ8 KIF7 LBR LFNG LHX3 LHX4 LIMK1 LMOD1 LRP2 LTBP4 MAD2L2 MAPRE2 MASP1 MBTPS2 MED12 MEGF8 MESP2 MLXIPL MTOR MYH11 MYLK NALCN NFIX NKX2-5 NOTCH1 NOTCH2 NOTCH3 NSDHL NXN OCRL PALB2 PAX8 PHGDH PITX3 PLAGL1 PORCN POU1F1 PRDM5 PROP1 PTCH1 RAB23 RAD51 RAD51C RFC2 RFWD3 RIN2 RIPPLY2 ROR2 RREB1 SALL1 SEC24C SEMA3E SETBP1 SH3PXD2B SHANK3 SKI SLC25A24 SLC26A2 SLC2A10 SLC5A5 SLC6A5 SLX4 SMAD3 SNIP1 SPECC1L SRCAP TBL2 TBX1 TENT5A TG TGDS TGFBR2 THRA THRB TMEM70 TNXB TP63 TPO TRAF7 TRHR TRIP11 TSHB TSHR TUBB TWIST2 UBE2T UFD1 WNT5A XRCC2 ZBTB24

Diseases (156) :1517 239850 2241 2604 225410 93 608594 90348 219150 2067 230740 135900 253200 567 618011 3197 2834 278250 565 301040 709 261540 904 617237 300166 614856 84 269700 617174 235510 2268 1299 214800 2990 265000 601776 2196 287 93296 156550 286 130000 293843 192430 2311 615879 95716 3107 180700 616331 304110 606893 194050 615297 277590 219100 2462 915 1555 614557 88632 2052 612938 2255 600001 2710 380 672 175700 610199 149400 616835 252500 373 312870 258315 584 253220 1001 226307 800 1865 255800 96191 309900 607014 607015 464 508 93930 135500 200990 169400 222448 2143 613177 2505 308205 305450 65759 614976 616638 616266 602535 95712 616028 955 102500 2789 130720 308050 1507 534 300555 218700 79351 2092 305600 614170 77301 201000 217335 613075 268310 107480 798 137834 48652 182212 2963 2095 612289 93298 600972 208050 274400 284984 613795 614501 1519 145410 136140 188400 617952 616145 610168 97927 614052 285 618164 99832 93299 90674 275100 90673 920
 

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