Human Phenotype Ontology 
Grandparent Node:
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Abnormal jaw morphology (HP:0030791)help
Parent Node:
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Abnormality of the chin (HP:0000306)help
Parent Node:
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Abnormality of the mandible (HP:0000277)help
..Starting node
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Mandibular prognathia (HP:0000303)help
Term ID: 303
Name: Mandibular prognathia
Synonym: Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Hypertrophy of lower jaw; Hypertrophy of mandible; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Increased size of mandible; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism
Definition: Abnormal prominence of the chin related to increased length of the mandible.
Comments:
Reference: HP:0000303
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mandible condylar process morphology (HP:3000077) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormality of the temporomandibular joint (HP:0010754) help
..expandAplasia/Hypoplasia of the mandible (HP:0009118) help
..expandAsymmetry of the mandible (HP:0009940) help
..expandBroad jaw (HP:0012802) help
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandIncreased size of the mandible (HP:0040309) help
..expandJaw ankylosis (HP:0040263) help
..expandMandibular osteomyelitis (HP:0007626) help
..expandMandibular pain (HP:0200025) help
..expandMidline defect of mandible (HP:0010753) help
..expandNarrow jaw (HP:0012801) help
..expandObtuse angle of mandible (HP:0005446) help
..expandRecurrent mandibular subluxations (HP:0005332) help
..expandRetrognathia (HP:0000278) help
..expandTrismus (HP:0000211) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000303HP:0000303Mandibular prognathia0ACAN CL E G H176171866ORPHA164178319155760
HP:0000303HP:0000303Mandibular prognathia0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000303HP:0000303Mandibular prognathia0ADAMTSL4 CL E G H545071885Distal myopathyC0751336ORPHA12718019706610113
HP:0000303HP:0000303Mandibular prognathia0AGA CL E G H17593ORPHA138239318613228
HP:0000303HP:0000303Mandibular prognathia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0000303HP:0000303Mandibular prognathia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0000303HP:0000303Mandibular prognathia0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM136620609600859
HP:0000303HP:0000303Mandibular prognathia0AIP CL E G H9049963ORPHA1112273358605555
HP:0000303HP:0000303Mandibular prognathia0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM12233915492605145
HP:0000303HP:0000303Mandibular prognathia0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000303HP:0000303Mandibular prognathia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000303HP:0000303Mandibular prognathia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0000303HP:0000303Mandibular prognathia0APC CL E G H324261584ORPHA119517734583611731
HP:0000303HP:0000303Mandibular prognathia0APC2 CL E G H10297821ORPHA1315624036612034
HP:0000303HP:0000303Mandibular prognathia0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM1315624036612034
HP:0000303HP:0000303Mandibular prognathia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000303HP:0000303Mandibular prognathia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0000303HP:0000303Mandibular prognathia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0000303HP:0000303Mandibular prognathia0CA2 CL E G H7602785ORPHA131761373611492
HP:0000303HP:0000303Mandibular prognathia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0000303HP:0000303Mandibular prognathia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0000303HP:0000303Mandibular prognathia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0000303HP:0000303Mandibular prognathia0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000303HP:0000303Mandibular prognathia0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000303HP:0000303Mandibular prognathia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0000303HP:0000303Mandibular prognathia0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0000303HP:0000303Mandibular prognathia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000303HP:0000303Mandibular prognathia0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0000303HP:0000303Mandibular prognathia0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM1116626239301012
HP:0000303HP:0000303Mandibular prognathia0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000303HP:0000303Mandibular prognathia0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM11712914677602635
HP:0000303HP:0000303Mandibular prognathia0DOCK3 CL E G H1795618292618292618292OMIM15342989603123
HP:0000303HP:0000303Mandibular prognathia0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000303HP:0000303Mandibular prognathia0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000303HP:0000303Mandibular prognathia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000303HP:0000303Mandibular prognathia0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000303HP:0000303Mandibular prognathia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000303HP:0000303Mandibular prognathia0FBN1 CL E G H22001885Distal myopathyC0751336ORPHA1272142843603134797
HP:0000303HP:0000303Mandibular prognathia0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000303HP:0000303Mandibular prognathia0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA11593363689176943
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000303HP:0000303Mandibular prognathia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000303HP:0000303Mandibular prognathia0FLII CL E G H2314819ORPHA121533750600362
HP:0000303HP:0000303Mandibular prognathia0FMR1 CL E G H2332908ORPHA1812813775309550
HP:0000303HP:0000303Mandibular prognathia0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000303HP:0000303Mandibular prognathia0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0000303HP:0000303Mandibular prognathia0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0000303HP:0000303Mandibular prognathia0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0000303HP:0000303Mandibular prognathia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0000303HP:0000303Mandibular prognathia0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000303HP:0000303Mandibular prognathia0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000303HP:0000303Mandibular prognathia0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0000303HP:0000303Mandibular prognathia0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM118846229670607840
HP:0000303HP:0000303Mandibular prognathia0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM11610825676607983
HP:0000303HP:0000303Mandibular prognathia0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000303HP:0000303Mandibular prognathia0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000303HP:0000303Mandibular prognathia0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000303HP:0000303Mandibular prognathia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000303HP:0000303Mandibular prognathia0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM164824868605837
HP:0000303HP:0000303Mandibular prognathia0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0000303HP:0000303Mandibular prognathia0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0000303HP:0000303Mandibular prognathia0INSR CL E G H3643769ORPHA11964076091147670
HP:0000303HP:0000303Mandibular prognathia0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM11964076091147670
HP:0000303HP:0000303Mandibular prognathia0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000303HP:0000303Mandibular prognathia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000303HP:0000303Mandibular prognathia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000303HP:0000303Mandibular prognathia0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000303HP:0000303Mandibular prognathia0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM15686404615620
HP:0000303HP:0000303Mandibular prognathia0LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0000303HP:0000303Mandibular prognathia0LRP5 CL E G H40413416Mathieu De Broca Bony syndromeORPHA12214116697603506
HP:0000303HP:0000303Mandibular prognathia0LRP5 CL E G H4041607636Van Buchem disease type 2607636C1843323OMIM12214116697603506
HP:0000303HP:0000303Mandibular prognathia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000303HP:0000303Mandibular prognathia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000303HP:0000303Mandibular prognathia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0000303HP:0000303Mandibular prognathia0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM1453157573160720
HP:0000303HP:0000303Mandibular prognathia0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0000303HP:0000303Mandibular prognathia0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000303HP:0000303Mandibular prognathia0NHS CL E G H4810627ORPHA1523537820300457
HP:0000303HP:0000303Mandibular prognathia0NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000303HP:0000303Mandibular prognathia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000303HP:0000303Mandibular prognathia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H5077894ORPHA11531818617606597
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0000303HP:0000303Mandibular prognathia0PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H5144280651ORPHA1452318783600129
HP:0000303HP:0000303Mandibular prognathia0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM1452318783600129
HP:0000303HP:0000303Mandibular prognathia0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0000303HP:0000303Mandibular prognathia0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0000303HP:0000303Mandibular prognathia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000303HP:0000303Mandibular prognathia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154909236601487
HP:0000303HP:0000303Mandibular prognathia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H5573280651ORPHA11884519388188830
HP:0000303HP:0000303Mandibular prognathia0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM11884519388188830
HP:0000303HP:0000303Mandibular prognathia0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000303HP:0000303Mandibular prognathia0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000303HP:0000303Mandibular prognathia0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000303HP:0000303Mandibular prognathia0PTEN CL E G H57282969ORPHA165820199588601728
HP:0000303HP:0000303Mandibular prognathia0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000303HP:0000303Mandibular prognathia0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000303HP:0000303Mandibular prognathia0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000303HP:0000303Mandibular prognathia0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000303HP:0000303Mandibular prognathia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0000303HP:0000303Mandibular prognathia0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0000303HP:0000303Mandibular prognathia0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0000303HP:0000303Mandibular prognathia0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0000303HP:0000303Mandibular prognathia0RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0000303HP:0000303Mandibular prognathia0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0000303HP:0000303Mandibular prognathia0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000303HP:0000303Mandibular prognathia0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0000303HP:0000303Mandibular prognathia0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000303HP:0000303Mandibular prognathia0SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000303HP:0000303Mandibular prognathia0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM11943318420612778
HP:0000303HP:0000303Mandibular prognathia0SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM152710778606570
HP:0000303HP:0000303Mandibular prognathia0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000303HP:0000303Mandibular prognathia0SLC25A24 CL E G H299572963ORPHA123520662608744
HP:0000303HP:0000303Mandibular prognathia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000303HP:0000303Mandibular prognathia0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM134031399610299
HP:0000303HP:0000303Mandibular prognathia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000303HP:0000303Mandibular prognathia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000303HP:0000303Mandibular prognathia0SMAD4 CL E G H40892588ORPHA114712576770600993
HP:0000303HP:0000303Mandibular prognathia0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM1177013771605740
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H509643416Mathieu De Broca Bony syndromeORPHA1177013771605740
HP:0000303HP:0000303Mandibular prognathia0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000303HP:0000303Mandibular prognathia0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM165911194601618
HP:0000303HP:0000303Mandibular prognathia0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000303HP:0000303Mandibular prognathia0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0000303HP:0000303Mandibular prognathia0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM124721066612655
HP:0000303HP:0000303Mandibular prognathia0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1354711766190180
HP:0000303HP:0000303Mandibular prognathia0TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM11611711926602642
HP:0000303HP:0000303Mandibular prognathia0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM1118711946191043
HP:0000303HP:0000303Mandibular prognathia0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM149111950600692
HP:0000303HP:0000303Mandibular prognathia0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM14019912011190990
HP:0000303HP:0000303Mandibular prognathia0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM121324259608680
HP:0000303HP:0000303Mandibular prognathia0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000303HP:0000303Mandibular prognathia0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM11317630551611595
HP:0000303HP:0000303Mandibular prognathia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000303HP:0000303Mandibular prognathia0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM12122220439300298
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000303HP:0000303Mandibular prognathia0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0000303HP:0000303Mandibular prognathia0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000303HP:0000303Mandibular prognathia0COLQ CL E G H829298915ORPHA0702622226603033
HP:0000303HP:0000303Mandibular prognathia0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000303HP:0000303Mandibular prognathia0FGFR2 CL E G H2263168624ORPHA01593363689176943
HP:0000303HP:0000303Mandibular prognathia0GNAS CL E G H2778562ORPHA02792164392139320
HP:0000303HP:0000303Mandibular prognathia0GORAB CL E G H923442078ORPHA01610825676607983
HP:0000303HP:0000303Mandibular prognathia0HNF1B CL E G H692893111ORPHA024048811630189907
HP:0000303HP:0000303Mandibular prognathia0HNF4A CL E G H317293111ORPHA01572835024600281
HP:0000303HP:0000303Mandibular prognathia0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM0114918249613420
HP:0000303HP:0000303Mandibular prognathia0LAMB2 CL E G H391398915ORPHA01273686487150325
HP:0000303HP:0000303Mandibular prognathia0LRP5 CL E G H40412790ORPHA02214116697603506
HP:0000303HP:0000303Mandibular prognathia0LTBP3 CL E G H4054601216Verloes Bourguignon syndrome601216C1832594OMIM013926716602090
HP:0000303HP:0000303Mandibular prognathia0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000303HP:0000303Mandibular prognathia0MYH7 CL E G H4625324604ORPHA0100224407577160760
HP:0000303HP:0000303Mandibular prognathia0MYH8 CL E G H46263377CystinosisCN035091ORPHA032257578160741
HP:0000303HP:0000303Mandibular prognathia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0000303HP:0000303Mandibular prognathia0PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0000303HP:0000303Mandibular prognathia0PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0000303HP:0000303Mandibular prognathia0PYCR1 CL E G H58312078ORPHA0411449721179035
HP:0000303HP:0000303Mandibular prognathia0SELENON CL E G H57190324604ORPHA06335415999606210
HP:0000303HP:0000303Mandibular prognathia0SLC9A6 CL E G H1047985278ORPHA02835111079300231
HP:0000303HP:0000303Mandibular prognathia0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM014712576770600993
HP:0000303HP:0000303Mandibular prognathia0SUFU CL E G H51684377ORPHA04753316466607035
HP:0000303HP:0000303Mandibular prognathia0TTN CL E G H7273324604ORPHA03461438512403188840


Genes (131) :ACAN ADAMTSL1 ADAMTSL4 AGA AGPAT2 AIMP2 AIP ANKH ANTXR1 AP1S2 AP4M1 APC APC2 ATAD3A BSCL2 CA2 CACNA1G CAV1 CAVIN1 CDH11 CHRNE CLCN4 COLQ CUL4B CUL7 CXORF56 CXorf56 DEAF1 DOCK3 DYM EHMT1 ERCC6 ERCC8 EZH2 FAM20C FBN1 FGFR1 FGFR2 FLCN FLII FMR1 FOS FOXG1 GALNS GFPT1 GJA1 GLB1 GNAS GNPTAB GORAB GPC3 GPC4 GPR101 HERC1 HERC2 HNF1B HNF4A IDUA IL1RAPL1 INSR IQSEC2 KCNH1 KCTD1 KDM5C KIF11 KPTN LAMB2 LRP4 LRP5 LTBP3 MAF MAGEL2 MAN2B1 MSTO1 MYH3 MYH7 MYH8 NFIX NHS NSD1 OCRL OPHN1 PAX3 PDE4D PIGV POC1A POGZ PPARG PQBP1 PRKAR1A PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PYCR1 RAF1 RAI1 RECQL4 RNF113A RNF125 RPL10 RPS6KA3 RUNX2 RUSC2 SELENON SETD2 SFRP4 SH3PXD2B SLC25A24 SLC6A17 SLC6A8 SLC9A6 SMAD4 SMS SOST SOX18 SUFU TAZ TBC1D7 TGFB1 TNFSF11 TNNI2 TNNT3 TPM2 TPRKB TTN TWIST2 TXNL4A UBE3A UPF3B

Diseases (139) :171866 612813 521445 1885 93 528 608594 618006 963 123000 2067 304340 612936 261584 821 617169 496790 617183 269700 2785 618087 1299 211380 608931 300114 98915 300354 273750 301013 819 615828 618292 223800 610253 133540 216400 277590 259775 166250 101600 87 168624 101200 1540 123500 610883 908 300624 261144 253000 218400 2710 253010 562 252600 2078 231070 373 617011 615516 93111 607016 300143 769 262190 135500 181270 300534 152950 615637 614305 2790 3416 607636 601216 601088 615547 248500 617675 601680 193700 324604 3377 614753 627 117550 534 300486 894 148820 193500 280651 950 614613 239300 614813 616364 309500 101800 377 109400 2658 2969 151100 611554 611553 182290 268400 300953 616260 435938 300998 303600 1452 617773 616831 265900 137834 2963 612289 616269 300352 85278 300243 2588 139210 309583 122860 269500 137940 302060 248000 131300 259710 617731 209885 608572 105830 300676
 

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