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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High forehead (HP:0000348)help
Term ID: 348
Name: High forehead
Synonym: High forehead; Tall forehead
Definition: An abnormally increased height of the forehead.
Comments:
Reference: HP:0000348
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
..expandBroad forehead (HP:0000337) help
..expandFlat forehead (HP:0004425) help
..expandForehead hyperpigmentation (HP:0005336) help
..expandFrontal bossing (HP:0002007) help
..expandFrontal hirsutism (HP:0011335) 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:0000348HP:0000348High forehead0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0000348HP:0000348High forehead0ACTB CL E G H6079107ORPHA165224132102630
HP:0000348HP:0000348High forehead0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000348HP:0000348High forehead0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM126725151615302
HP:0000348HP:0000348High forehead0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0000348HP:0000348High forehead0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000348HP:0000348High forehead0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA113472121316611192
HP:0000348HP:0000348High forehead0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000348HP:0000348High forehead0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0000348HP:0000348High forehead0AP1S2 CL E G H890585329ORPHA114204560300629
HP:0000348HP:0000348High forehead0APC CL E G H324261584ORPHA119517734583611731
HP:0000348HP:0000348High forehead0APC2 CL E G H10297821ORPHA1315624036612034
HP:0000348HP:0000348High forehead0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0000348HP:0000348High forehead0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0000348HP:0000348High forehead0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000348HP:0000348High forehead0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0000348HP:0000348High forehead0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000348HP:0000348High forehead0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148891071112262
HP:0000348HP:0000348High forehead0BRAF CL E G H673648ORPHA1684901097164757
HP:0000348HP:0000348High forehead0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000348HP:0000348High forehead0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000348HP:0000348High forehead0CCND2 CL E G H89483473ORPHA111851583123833
HP:0000348HP:0000348High forehead0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0000348HP:0000348High forehead0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000348HP:0000348High forehead0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11028517272609279
HP:0000348HP:0000348High forehead0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000348HP:0000348High forehead0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000348HP:0000348High forehead0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000348HP:0000348High forehead0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM142714312604594
HP:0000348HP:0000348High forehead0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000348HP:0000348High forehead0CTNND1 CL E G H1500617681BLEPHAROCHEILODONTIC SYNDROME 2617681C4540127OMIM117352515601045
HP:0000348HP:0000348High forehead0CTSK CL E G H1513763ORPHA158972536601105
HP:0000348HP:0000348High forehead0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000348HP:0000348High forehead0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000348HP:0000348High forehead0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000348HP:0000348High forehead0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000348HP:0000348High forehead0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0000348HP:0000348High forehead0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000348HP:0000348High forehead0ERF CL E G H20772343ORPHA119753444611888
HP:0000348HP:0000348High forehead0ERF CL E G H2077207EchinococcosisORPHA119753444611888
HP:0000348HP:0000348High forehead0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000348HP:0000348High forehead0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000348HP:0000348High forehead0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000348HP:0000348High forehead0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000348HP:0000348High forehead0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000348HP:0000348High forehead0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000348HP:0000348High forehead0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0000348HP:0000348High forehead0FGFR2 CL E G H2263168624ORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H2263207EchinococcosisORPHA11593363689176943
HP:0000348HP:0000348High forehead0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0000348HP:0000348High forehead0FGFR3 CL E G H226193262ORPHA1774313690134934
HP:0000348HP:0000348High forehead0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0000348HP:0000348High forehead0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000348HP:0000348High forehead0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000348HP:0000348High forehead0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000348HP:0000348High forehead0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0000348HP:0000348High forehead0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000348HP:0000348High forehead0GHR CL E G H2690633ORPHA11211814263600946
HP:0000348HP:0000348High forehead0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000348HP:0000348High forehead0GLI3 CL E G H2737380ORPHA12445374319165240
HP:0000348HP:0000348High forehead0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0000348HP:0000348High forehead0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0000348HP:0000348High forehead0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000348HP:0000348High forehead0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000348HP:0000348High forehead0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000348HP:0000348High forehead0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000348HP:0000348High forehead0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000348HP:0000348High forehead0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0000348HP:0000348High forehead0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000348HP:0000348High forehead0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000348HP:0000348High forehead0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000348HP:0000348High forehead0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000348HP:0000348High forehead0IMPAD1 CL E G H54928614078Chondrodysplasia with joint dislocations, GPAPP type614078C3279757OMIM1526019614010
HP:0000348HP:0000348High forehead0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000348HP:0000348High forehead0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0000348HP:0000348High forehead0KRAS CL E G H3845648ORPHA1452746407190070
HP:0000348HP:0000348High forehead0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000348HP:0000348High forehead0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0000348HP:0000348High forehead0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000348HP:0000348High forehead0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000348HP:0000348High forehead0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000348HP:0000348High forehead0LRP5 CL E G H4041178377ORPHA12214116697603506
HP:0000348HP:0000348High forehead0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0000348HP:0000348High forehead0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000348HP:0000348High forehead0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0000348HP:0000348High forehead0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000348HP:0000348High forehead0MED12 CL E G H9968776ORPHA13465011957300188
HP:0000348HP:0000348High forehead0MEF2C CL E G H4208228384ORPHA1892456996600662
HP:0000348HP:0000348High forehead0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000348HP:0000348High forehead0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000348HP:0000348High forehead0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000348HP:0000348High forehead0NFIB CL E G H4781618286618286618286OMIM1171387785600728
HP:0000348HP:0000348High forehead0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000348HP:0000348High forehead0NRAS CL E G H4893648ORPHA1141817989164790
HP:0000348HP:0000348High forehead0NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000348HP:0000348High forehead0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000348HP:0000348High forehead0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000348HP:0000348High forehead0ORAI1 CL E G H848763204ORPHA11710125896610277
HP:0000348HP:0000348High forehead0PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000348HP:0000348High forehead0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0000348HP:0000348High forehead0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000348HP:0000348High forehead0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000348HP:0000348High forehead0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000348HP:0000348High forehead0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000348HP:0000348High forehead0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000348HP:0000348High forehead0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000348HP:0000348High forehead0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000348HP:0000348High forehead0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000348HP:0000348High forehead0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000348HP:0000348High forehead0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0000348HP:0000348High forehead0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000348HP:0000348High forehead0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000348HP:0000348High forehead0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM1101968855601789
HP:0000348HP:0000348High forehead0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000348HP:0000348High forehead0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000348HP:0000348High forehead0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM151768856601791
HP:0000348HP:0000348High forehead0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000348HP:0000348High forehead0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000348HP:0000348High forehead0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000348HP:0000348High forehead0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000348HP:0000348High forehead0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000348HP:0000348High forehead0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000348HP:0000348High forehead0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0000348HP:0000348High forehead0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000348HP:0000348High forehead0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000348HP:0000348High forehead0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000348HP:0000348High forehead0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000348HP:0000348High forehead0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000348HP:0000348High forehead0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0000348HP:0000348High forehead0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000348HP:0000348High forehead0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000348HP:0000348High forehead0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000348HP:0000348High forehead0PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM1142809719600414
HP:0000348HP:0000348High forehead0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0000348HP:0000348High forehead0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000348HP:0000348High forehead0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000348HP:0000348High forehead0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000348HP:0000348High forehead0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000348HP:0000348High forehead0PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0000348HP:0000348High forehead0PIK3R2 CL E G H529683473ORPHA191018980603157
HP:0000348HP:0000348High forehead0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000348HP:0000348High forehead0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0000348HP:0000348High forehead0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0000348HP:0000348High forehead0RASA2 CL E G H5922648ORPHA13739872601589
HP:0000348HP:0000348High forehead0RBM8A CL E G H99393320ORPHA1142059905605313
HP:0000348HP:0000348High forehead0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000348HP:0000348High forehead0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0000348HP:0000348High forehead0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0000348HP:0000348High forehead0RRAS CL E G H6237648ORPHA127510447165090
HP:0000348HP:0000348High forehead0SATB2 CL E G H23314251019ORPHA110627421637608148
HP:0000348HP:0000348High forehead0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000348HP:0000348High forehead0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM181031546600943
HP:0000348HP:0000348High forehead0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000348HP:0000348High forehead0SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000348HP:0000348High forehead0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM11943318420612778
HP:0000348HP:0000348High forehead0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000348HP:0000348High forehead0SHPK CL E G H23729440713ORPHA12981492605060
HP:0000348HP:0000348High forehead0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000348HP:0000348High forehead0SIX2 CL E G H10736488437ORPHA192010888604994
HP:0000348HP:0000348High forehead0SKI CL E G H64972462ORPHA12450210896164780
HP:0000348HP:0000348High forehead0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0000348HP:0000348High forehead0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0000348HP:0000348High forehead0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0000348HP:0000348High forehead0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000348HP:0000348High forehead0STIM1 CL E G H67863204ORPHA12524211386605921
HP:0000348HP:0000348High forehead0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM193011509185605
HP:0000348HP:0000348High forehead0SZT2 CL E G H23334615476Early infantile epileptic encephalopathy 18615476C3809624OMIM12595929040615463
HP:0000348HP:0000348High forehead0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1816111582604934
HP:0000348HP:0000348High forehead0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000348HP:0000348High forehead0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000348HP:0000348High forehead0TBX1 CL E G H68991727ORPHA18255311592602054
HP:0000348HP:0000348High forehead0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000348HP:0000348High forehead0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000348HP:0000348High forehead0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM112828215979603273
HP:0000348HP:0000348High forehead0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0000348HP:0000348High forehead0TRPV4 CL E G H593412635ORPHA18253918083605427
HP:0000348HP:0000348High forehead0TRPV4 CL E G H5934193314ORPHA18253918083605427
HP:0000348HP:0000348High forehead0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0000348HP:0000348High forehead0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0000348HP:0000348High forehead0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000348HP:0000348High forehead0UPF3B CL E G H65109776ORPHA12122220439300298
HP:0000348HP:0000348High forehead0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000348HP:0000348High forehead0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000348HP:0000348High forehead0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000348HP:0000348High forehead0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000348HP:0000348High forehead0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0000348HP:0000348High forehead0YWHAE CL E G H7531217385ORPHA14414612851605066
HP:0000348HP:0000348High forehead0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA14414612851605066
HP:0000348HP:0000348High forehead0ZDHHC9 CL E G H51114776ORPHA11423918475300646
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000348HP:0000348High forehead0AARS CL E G H16442835ORPHA02120601065
HP:0000348HP:0000348High forehead0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM01414332456613666
HP:0000348HP:0000348High forehead0AP3B2 CL E G H8120442835ORPHA01290567602166
HP:0000348HP:0000348High forehead0ARV1 CL E G H64801442835ORPHA035429561611647
HP:0000348HP:0000348High forehead0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000348HP:0000348High forehead0ATP6V1A CL E G H523442835ORPHA0947851607027
HP:0000348HP:0000348High forehead0ATP6V1B2 CL E G H52679499ORPHA0493854606939
HP:0000348HP:0000348High forehead0ATP7A CL E G H538198ORPHA0357607869300011
HP:0000348HP:0000348High forehead0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA020851148602452
HP:0000348HP:0000348High forehead0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0293231149602860
HP:0000348HP:0000348High forehead0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA06491151603719
HP:0000348HP:0000348High forehead0CACNA1A CL E G H773442835ORPHA025113931388601011
HP:0000348HP:0000348High forehead0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0515530794607951
HP:0000348HP:0000348High forehead0CLTC CL E G H1213442835ORPHA014622092118955
HP:0000348HP:0000348High forehead0CNKSR2 CL E G H22866442835ORPHA0621419701300724
HP:0000348HP:0000348High forehead0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0000348HP:0000348High forehead0CYFIP2 CL E G H26999442835ORPHA034213760606323
HP:0000348HP:0000348High forehead0DHDDS CL E G H79947442835ORPHA0812220603608172
HP:0000348HP:0000348High forehead0DNM1 CL E G H1759442835ORPHA0313242972602377
HP:0000348HP:0000348High forehead0EEF1A2 CL E G H1917442835ORPHA0122603192602959
HP:0000348HP:0000348High forehead0FGF12 CL E G H2257442835ORPHA010743668601513
HP:0000348HP:0000348High forehead0GABRB2 CL E G H2561442835ORPHA0162124082600232
HP:0000348HP:0000348High forehead0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM02445374319165240
HP:0000348HP:0000348High forehead0GRIN2D CL E G H2906442835ORPHA02774588602717
HP:0000348HP:0000348High forehead0HCN1 CL E G H348980442835ORPHA0402854845602780
HP:0000348HP:0000348High forehead0HNRNPU CL E G H3192238769ORPHA0683215048602869
HP:0000348HP:0000348High forehead0KCNA2 CL E G H3737442835ORPHA0211296220176262
HP:0000348HP:0000348High forehead0KCNB1 CL E G H3745442835ORPHA0302786231600397
HP:0000348HP:0000348High forehead0KMT2A CL E G H4297319182ORPHA01273797132159555
HP:0000348HP:0000348High forehead0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000348HP:0000348High forehead0NECAP1 CL E G H25977442835ORPHA018224539611623
HP:0000348HP:0000348High forehead0NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM0764417907608002
HP:0000348HP:0000348High forehead0NTRK2 CL E G H4915442835ORPHA013708032600456
HP:0000348HP:0000348High forehead0NUS1 CL E G H116150442835ORPHA0225721042610463
HP:0000348HP:0000348High forehead0PPP3CA CL E G H5530442835ORPHA011399314114105
HP:0000348HP:0000348High forehead0SCN3A CL E G H6328442835ORPHA01942210590182391
HP:0000348HP:0000348High forehead0SCN8A CL E G H6334442835ORPHA010375010596600702
HP:0000348HP:0000348High forehead0SLC13A5 CL E G H284111442835ORPHA02131223089608305
HP:0000348HP:0000348High forehead0SLC1A2 CL E G H6506442835ORPHA084910940600300
HP:0000348HP:0000348High forehead0SMC1A CL E G H8243319182ORPHA010048411111300040
HP:0000348HP:0000348High forehead0STXBP1 CL E G H6812442835ORPHA019553811444602926
HP:0000348HP:0000348High forehead0SYNGAP1 CL E G H8831442835ORPHA08651711497603384
HP:0000348HP:0000348High forehead0SYNJ1 CL E G H8867442835ORPHA02745211503604297
HP:0000348HP:0000348High forehead0SZT2 CL E G H23334442835ORPHA02595929040615463
HP:0000348HP:0000348High forehead0TRAK1 CL E G H22906442835ORPHA062529947608112
HP:0000348HP:0000348High forehead0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0216212307604507
HP:0000348HP:0000348High forehead0UBA5 CL E G H79876442835ORPHA0184823230610552
HP:0000348HP:0000348High forehead0WWOX CL E G H51741442835ORPHA05059612799605131
HP:0000348HP:0000348High forehead0YWHAG CL E G H7532442835ORPHA055112852605356
HP:0000348HP:0000348High forehead0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM093712872600470


Genes (194) :A2ML1 AARS ACTB ADAT3 AKT3 ALDH6A1 ALG11 ANKRD11 ANTXR1 AP1S1 AP1S2 AP3B2 APC APC2 ARID2 ARV1 ARX ATAD3A ATP6V1A ATP6V1B2 ATP7A BAZ1B BMP4 BRAF BUB1 BUB1B BUB3 CACNA1A CCND2 CDH1 CDH11 CENPJ CEP57 CLIP2 CLTC CNKSR2 COX7B CPLX1 CPT2 CRIPT CTBP1 CTNND1 CTSK CUL4B CYFIP2 DHDDS DIS3L2 DNM1 DVL1 EBF3 EEF1A2 EIF2AK3 ELN ERF ETFA ETFB ETFDH EXOSC2 FBN1 FBXO11 FGF12 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FRMPD4 GABRB2 GATA4 GHR GJA1 GLI3 GMNN GNPAT GNPTAB GRIN2D GTF2I GTF2IRD1 HBA1 HBA2 HCN1 HIC1 HNRNPU HSD17B4 IFT52 IGBP1 IMPAD1 KANSL1 KAT6B KCNA2 KCNB1 KMT2A KRAS LBR LETM1 LIMK1 LRP5 LZTR1 MAF MAP2K1 MAP2K2 MED12 MEF2C MMACHC MTOR NECAP1 NELFA NFIB NFIX NPHP3 NRAS NSD1 NSD2 NTRK2 NUS1 ORAI1 PAFAH1B1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHIP PIGT PIK3CA PIK3R2 PPP3CA PRDX1 PTPN11 RAF1 RASA2 RBM8A RFC2 RIT1 RNF113A RRAS SATB2 SCN3A SCN8A SERPINH1 SETBP1 SETD2 SH3PXD2B SHPK SIN3A SIX2 SKI SLC13A5 SLC1A2 SMAD3 SMC1A SOS1 SOS2 SOX9 STIM1 STXBP1 SYNGAP1 SYNJ1 SYT1 SZT2 TBCE TBL1XR1 TBL2 TBX1 THOC6 TMEM237 TP63 TRAK1 TRIO TRIP13 TRPV4 TWIST1 UBA5 UNC80 UPF3B VAC14 WASHC5 WDR35 WHCR WWOX XRCC4 YWHAE YWHAG ZDHHC9 ZIC1

Diseases (133) :648 442835 79107 607371 615286 83473 614105 613661 261250 2067 609313 85329 261584 821 617808 300215 496790 617183 79499 198 304150 904 607932 1340 1052 257300 119580 1299 613676 300887 194190 608836 615789 617681 763 300354 2849 616331 617330 1667 2343 207 231680 617763 2462 618089 93258 93260 168624 93259 794 101200 101400 93262 3472 2308 300983 251071 633 2710 380 175700 616835 222765 252500 98791 531 238769 261515 617102 52055 300472 614078 610443 319182 215140 280 178377 601088 615280 776 228384 277400 616638 618286 614753 267010 3204 217385 912 44 214100 614859 614883 614887 614866 614872 614882 617370 202370 214110 617991 615398 60040 3320 300953 251019 612313 613848 269150 616831 137834 440713 613406 488437 284984 114290 618218 615476 2323 602342 1727 613680 614424 129400 617061 93314 2635 616801 220210 613610 616541 616602
 

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