Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the forehead (HP:0000290)help
..Starting node
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Broad forehead (HP:0000337)help
Term ID: 337
Name: Broad forehead
Synonym: Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead
Definition: Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Comments:
Reference: HP:0000337
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of frontalis muscle belly (HP:3000004) help
..expandAbnormality of the frontal hairline (HP:0000599) help
..expandAbnormality of the glabella (HP:0002056) help
..expandAbnormality of the metopic suture (HP:0005556) help
..expandFlat forehead (HP:0004425) help
..expandForehead hyperpigmentation (HP:0005336) help
..expandFrontal bossing (HP:0002007) help
..expandFrontal hirsutism (HP:0011335) help
..expandHigh forehead (HP:0000348) help
..expandLarge forehead (HP:0002003) help
..expandNarrow forehead (HP:0000341) help
..expandProminent forehead (HP:0011220) help
..expandSloping forehead (HP:0000340) help
..expandSmall forehead (HP:0000350) help
..expandVertical forehead creases (HP:0011221) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000337HP:0000337Broad forehead0ABL1 CL E G H25617602CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME617602C4539857OMIM1512776189980
HP:0000337HP:0000337Broad forehead0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000337HP:0000337Broad forehead0AIP CL E G H9049963ORPHA1112273358605555
HP:0000337HP:0000337Broad forehead0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0000337HP:0000337Broad forehead0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM15181467300195
HP:0000337HP:0000337Broad forehead0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000337HP:0000337Broad forehead0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000337HP:0000337Broad forehead0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000337HP:0000337Broad forehead0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000337HP:0000337Broad forehead0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000337HP:0000337Broad forehead0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000337HP:0000337Broad forehead0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000337HP:0000337Broad forehead0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000337HP:0000337Broad forehead0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0000337HP:0000337Broad forehead0CCDC8 CL E G H839872616ORPHA133625367614145
HP:0000337HP:0000337Broad forehead0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000337HP:0000337Broad forehead0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0000337HP:0000337Broad forehead0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000337HP:0000337Broad forehead0CHST3 CL E G H9469263463ORPHA1392651971603799
HP:0000337HP:0000337Broad forehead0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0000337HP:0000337Broad forehead0CITED2 CL E G H103703303ORPHA119321987602937
HP:0000337HP:0000337Broad forehead0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000337HP:0000337Broad forehead0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0000337HP:0000337Broad forehead0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000337HP:0000337Broad forehead0COL2A1 CL E G H128094068ORPHA15707312200120140
HP:0000337HP:0000337Broad forehead0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM1135917213612502
HP:0000337HP:0000337Broad forehead0CUL7 CL E G H98202616ORPHA18524821024609577
HP:0000337HP:0000337Broad forehead0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000337HP:0000337Broad forehead0EED CL E G H87263447ORPHA19493188605984
HP:0000337HP:0000337Broad forehead0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000337HP:0000337Broad forehead0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000337HP:0000337Broad forehead0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0000337HP:0000337Broad forehead0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000337HP:0000337Broad forehead0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0000337HP:0000337Broad forehead0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0000337HP:0000337Broad forehead0FGFR3 CL E G H226135099ORPHA1774313690134934
HP:0000337HP:0000337Broad forehead0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
HP:0000337HP:0000337Broad forehead0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000337HP:0000337Broad forehead0FLII CL E G H2314819ORPHA121533750600362
HP:0000337HP:0000337Broad forehead0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000337HP:0000337Broad forehead0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM15284019602589
HP:0000337HP:0000337Broad forehead0GATA4 CL E G H26263303ORPHA11713414173600576
HP:0000337HP:0000337Broad forehead0GATA4 CL E G H2626187500Tetralogy of Fallot187500C0039685OMIM11713414173600576
HP:0000337HP:0000337Broad forehead0GATA5 CL E G H1406283303ORPHA1325015802611496
HP:0000337HP:0000337Broad forehead0GATA6 CL E G H26273303ORPHA1851724174601656
HP:0000337HP:0000337Broad forehead0GATA6 CL E G H2627187500Tetralogy of Fallot187500C0039685OMIM1851724174601656
HP:0000337HP:0000337Broad forehead0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000337HP:0000337Broad forehead0GDF1 CL E G H26573303ORPHA1151494214602880
HP:0000337HP:0000337Broad forehead0GJA5 CL E G H27023303ORPHA1373504279121013
HP:0000337HP:0000337Broad forehead0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000337HP:0000337Broad forehead0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000337HP:0000337Broad forehead0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000337HP:0000337Broad forehead0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000337HP:0000337Broad forehead0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000337HP:0000337Broad forehead0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM1342955173190020
HP:0000337HP:0000337Broad forehead0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0000337HP:0000337Broad forehead0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H1823303ORPHA16206456188601920
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H182187500Tetralogy of Fallot187500C0039685OMIM16206456188601920
HP:0000337HP:0000337Broad forehead0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000337HP:0000337Broad forehead0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0000337HP:0000337Broad forehead0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0000337HP:0000337Broad forehead0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000337HP:0000337Broad forehead0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000337HP:0000337Broad forehead0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000337HP:0000337Broad forehead0LRP5 CL E G H4041178377ORPHA12214116697603506
HP:0000337HP:0000337Broad forehead0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000337HP:0000337Broad forehead0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000337HP:0000337Broad forehead0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000337HP:0000337Broad forehead0MEF2C CL E G H4208228384ORPHA1892456996600662
HP:0000337HP:0000337Broad forehead0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0000337HP:0000337Broad forehead0NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0000337HP:0000337Broad forehead0NKX2-5 CL E G H14823303ORPHA11122152488600584
HP:0000337HP:0000337Broad forehead0NKX2-5 CL E G H1482187500Tetralogy of Fallot187500C0039685OMIM11122152488600584
HP:0000337HP:0000337Broad forehead0NKX2-6 CL E G H1378143303ORPHA199532940611770
HP:0000337HP:0000337Broad forehead0NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM1813947882600275
HP:0000337HP:0000337Broad forehead0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM1141817989164790
HP:0000337HP:0000337Broad forehead0NSD1 CL E G H643243447ORPHA152589614234606681
HP:0000337HP:0000337Broad forehead0OBSL1 CL E G H233632616ORPHA13533129092610991
HP:0000337HP:0000337Broad forehead0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM12208590602590
HP:0000337HP:0000337Broad forehead0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0000337HP:0000337Broad forehead0PIGN CL E G H235562059ORPHA1344168967606097
HP:0000337HP:0000337Broad forehead0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0000337HP:0000337Broad forehead0POLE CL E G H5426615139Facial dysmorphism, immunodeficiency, livedo, and short stature615139C3554576OMIM17540199177174762
HP:0000337HP:0000337Broad forehead0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000337HP:0000337Broad forehead0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000337HP:0000337Broad forehead0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000337HP:0000337Broad forehead0PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM165820199588601728
HP:0000337HP:0000337Broad forehead0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000337HP:0000337Broad forehead0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000337HP:0000337Broad forehead0RAI1 CL E G H107431713ORPHA11164049834607642
HP:0000337HP:0000337Broad forehead0RBM8A CL E G H99393320ORPHA1142059905605313
HP:0000337HP:0000337Broad forehead0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000337HP:0000337Broad forehead0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000337HP:0000337Broad forehead0RNF135 CL E G H84282137634ORPHA188921158611358
HP:0000337HP:0000337Broad forehead0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000337HP:0000337Broad forehead0SH2B1 CL E G H25970261197ORPHA11616030417608937
HP:0000337HP:0000337Broad forehead0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000337HP:0000337Broad forehead0SLC25A24 CL E G H299572963ORPHA123520662608744
HP:0000337HP:0000337Broad forehead0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000337HP:0000337Broad forehead0SUZ12 CL E G H235123447ORPHA137217101606245
HP:0000337HP:0000337Broad forehead0TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000337HP:0000337Broad forehead0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0000337HP:0000337Broad forehead0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM124721066612655
HP:0000337HP:0000337Broad forehead0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000337HP:0000337Broad forehead0TBX1 CL E G H68993303ORPHA18255311592602054
HP:0000337HP:0000337Broad forehead0TBX1 CL E G H6899187500Tetralogy of Fallot187500C0039685OMIM18255311592602054
HP:0000337HP:0000337Broad forehead0TCF12 CL E G H693835099ORPHA1718011623600480
HP:0000337HP:0000337Broad forehead0TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM11520325774613846
HP:0000337HP:0000337Broad forehead0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM142518345611357
HP:0000337HP:0000337Broad forehead0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM1155711743601601
HP:0000337HP:0000337Broad forehead0TWIST1 CL E G H729135099ORPHA120911512428601622
HP:0000337HP:0000337Broad forehead0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000337HP:0000337Broad forehead0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000337HP:0000337Broad forehead0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000337HP:0000337Broad forehead0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000337HP:0000337Broad forehead0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000337HP:0000337Broad forehead0ZFPM2 CL E G H234143303ORPHA15214216700603693
HP:0000337HP:0000337Broad forehead0ZFPM2 CL E G H23414187500Tetralogy of Fallot187500C0039685OMIM15214216700603693
HP:0000337HP:0000337Broad forehead0ZIC1 CL E G H754535099ORPHA193712872600470
HP:0000337HP:0000337Broad forehead0ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM112315412873603073
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000337HP:0000337Broad forehead0ACTG2 CL E G H722604Hashimoto-Pritzker syndromeORPHA02049145102545
HP:0000337HP:0000337Broad forehead0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM0212231067112264
HP:0000337HP:0000337Broad forehead0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0261262909602768
HP:0000337HP:0000337Broad forehead0HES7 CL E G H846672311Autosomal recessive spondylocostal dysostosisCN043670ORPHA064515977608059
HP:0000337HP:0000337Broad forehead0LFNG CL E G H39552311Autosomal recessive spondylocostal dysostosisCN043670ORPHA071096560602576
HP:0000337HP:0000337Broad forehead0MESP2 CL E G H1458732311Autosomal recessive spondylocostal dysostosisCN043670ORPHA0615429659605195
HP:0000337HP:0000337Broad forehead0PSPH CL E G H572379350ORPHA091099577172480
HP:0000337HP:0000337Broad forehead0RECQL4 CL E G H94011225ORPHA012220289949603780
HP:0000337HP:0000337Broad forehead0RIPPLY2 CL E G H1347012311Autosomal recessive spondylocostal dysostosisCN043670ORPHA033921390609891
HP:0000337HP:0000337Broad forehead0RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0000337HP:0000337Broad forehead0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744


Genes (117) :ABL1 ACTG2 ADAMTS3 AIP ALDH18A1 AMMECR1 ANTXR1 BAZ1B BMP1 BMP2 BRPF1 CAMTA1 CASK CCBE1 CCDC22 CCDC8 CDH11 CDKL5 CHST14 CHST3 CITED2 CKAP2L CLIP2 COL2A1 COLEC11 CUL7 DEAF1 DLL3 EED ELN EZH2 FAT4 FGD1 FGF10 FGFR2 FGFR3 FLCN FLII FLNA FUT8 GATA4 GATA5 GATA6 GATAD2B GDF1 GJA5 GPR101 GTF2I GTF2IRD1 HBA1 HBA2 HES7 HRAS IFIH1 IQSEC2 JAG1 KANSL1 KCNJ2 KIF7 KRAS LFNG LIMK1 LRP2 LRP5 MAN2B1 MBD5 MEF2C MESP2 NFIA NKX2-5 NKX2-6 NOTCH2 NRAS NSD1 OBSL1 PAK1 PEX3 PIGN PIK3CA POLE PPM1D PSPH PTDSS1 PTEN PYCR1 RAI1 RBM8A RECQL4 RFC2 RIPPLY2 RLIM RNF135 RUNX2 SETBP1 SH2B1 SH3PXD2B SLC25A24 SLC6A8 SUZ12 TAB2 TAZ TBC1D7 TBL2 TBX1 TCF12 TCTN2 TENT5A TFAP2B TWIST1 UNC80 WAC WASHC5 YY1 ZBTB20 ZFPM2 ZIC1 ZIC2

Diseases (92) :617602 2604 2136 963 616603 300990 2067 904 614856 617877 617333 614756 163937 235510 300963 2616 211380 300672 601776 263463 143095 3303 272440 3255 94068 265050 819 2311 3447 617561 915 149730 87 101200 35099 610883 90652 618005 187500 615074 98791 137550 182250 118450 610443 170390 200990 615278 2143 178377 248500 228402 156200 228384 613443 613735 610205 618158 614882 2059 602501 615139 617450 79350 2658 151050 605309 612940 1713 3320 1225 300978 137634 1452 798 261197 137834 2963 612289 300352 228410 302060 248000 613885 617952 169100 616801 616708 220210 617557 259050 609637
 

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