Human Phenotype Ontology 
Grandparent Node:
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Abnormal facial shape (HP:0001999)help
Parent Node:
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Large face (HP:0100729)help
..Starting node
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Long face (HP:0000276)help
Term ID: 276
Name: Long face
Synonym: Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face
Definition: Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Comments:
Reference: HP:0000276
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad face (HP:0000283) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000276HP:0000276Long face0ACTA1 CL E G H582020ORPHA1217272129102610
HP:0000276HP:0000276Long face0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0000276HP:0000276Long face0AHI1 CL E G H54806220493ORPHA19642221575608894
HP:0000276HP:0000276Long face0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19642221575608894
HP:0000276HP:0000276Long face0AIP CL E G H9049963ORPHA1112273358605555
HP:0000276HP:0000276Long face0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0000276HP:0000276Long face0AP1S2 CL E G H890585329ORPHA114204560300629
HP:0000276HP:0000276Long face0AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000276HP:0000276Long face0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000276HP:0000276Long face0APC CL E G H324261584ORPHA119517734583611731
HP:0000276HP:0000276Long face0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM1315624036612034
HP:0000276HP:0000276Long face0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11012025419608922
HP:0000276HP:0000276Long face0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1333694604695
HP:0000276HP:0000276Long face0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11110520730617612
HP:0000276HP:0000276Long face0ARVCF CL E G H421567ORPHA12477728602269
HP:0000276HP:0000276Long face0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000276HP:0000276Long face0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000276HP:0000276Long face0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000276HP:0000276Long face0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0000276HP:0000276Long face0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000276HP:0000276Long face0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000276HP:0000276Long face0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11015824123614144
HP:0000276HP:0000276Long face0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000276HP:0000276Long face0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000276HP:0000276Long face0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0000276HP:0000276Long face0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000276HP:0000276Long face0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000276HP:0000276Long face0CAMTA1 CL E G H23261314647ORPHA11123218806611501
HP:0000276HP:0000276Long face0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000276HP:0000276Long face0CC2D2A CL E G H575452318ORPHA19658429253612013
HP:0000276HP:0000276Long face0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000276HP:0000276Long face0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM114128033616735
HP:0000276HP:0000276Long face0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1715224866616690
HP:0000276HP:0000276Long face0CEP120 CL E G H153241220493ORPHA198726690613446
HP:0000276HP:0000276Long face0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA198726690613446
HP:0000276HP:0000276Long face0CEP290 CL E G H801842318ORPHA131088429021610142
HP:0000276HP:0000276Long face0CEP41 CL E G H95681220493ORPHA11123212370610523
HP:0000276HP:0000276Long face0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11123212370610523
HP:0000276HP:0000276Long face0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000276HP:0000276Long face0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000276HP:0000276Long face0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0000276HP:0000276Long face0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000276HP:0000276Long face0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000276HP:0000276Long face0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0000276HP:0000276Long face0COMT CL E G H1312567ORPHA1155552228116790
HP:0000276HP:0000276Long face0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0000276HP:0000276Long face0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111859425801614571
HP:0000276HP:0000276Long face0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12725726193611654
HP:0000276HP:0000276Long face0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM1116626239301012
HP:0000276HP:0000276Long face0DOCK3 CL E G H1795618292618292618292OMIM15342989603123
HP:0000276HP:0000276Long face0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000276HP:0000276Long face0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000276HP:0000276Long face0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12212903519601653
HP:0000276HP:0000276Long face0EYA1 CL E G H2138166780Otofaciocervical syndrome 1166780C3714941OMIM12212903519601653
HP:0000276HP:0000276Long face0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000276HP:0000276Long face0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000276HP:0000276Long face0FGF3 CL E G H224890024ORPHA120353681164950
HP:0000276HP:0000276Long face0FGF3 CL E G H22482791ORPHA120353681164950
HP:0000276HP:0000276Long face0FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM120353681164950
HP:0000276HP:0000276Long face0FMR1 CL E G H2332908ORPHA1812813775309550
HP:0000276HP:0000276Long face0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000276HP:0000276Long face0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0000276HP:0000276Long face0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0000276HP:0000276Long face0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000276HP:0000276Long face0HACD1 CL E G H92002020ORPHA11339639610467
HP:0000276HP:0000276Long face0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000276HP:0000276Long face0HIRA CL E G H7290567ORPHA153994916600237
HP:0000276HP:0000276Long face0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0000276HP:0000276Long face0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1212226558610693
HP:0000276HP:0000276Long face0INPP5E CL E G H56623220493ORPHA15432521474613037
HP:0000276HP:0000276Long face0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15432521474613037
HP:0000276HP:0000276Long face0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000276HP:0000276Long face0ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0000276HP:0000276Long face0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0000276HP:0000276Long face0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA1229068616650
HP:0000276HP:0000276Long face0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA13115519960610178
HP:0000276HP:0000276Long face0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0000276HP:0000276Long face0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0000276HP:0000276Long face0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000276HP:0000276Long face0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM1272596823604346
HP:0000276HP:0000276Long face0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000276HP:0000276Long face0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000276HP:0000276Long face0MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0000276HP:0000276Long face0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0000276HP:0000276Long face0MGP CL E G H425685202ORPHA112817060154870
HP:0000276HP:0000276Long face0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0000276HP:0000276Long face0MKS1 CL E G H54903220493ORPHA1523347121609883
HP:0000276HP:0000276Long face0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA1523347121609883
HP:0000276HP:0000276Long face0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000276HP:0000276Long face0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0000276HP:0000276Long face0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0000276HP:0000276Long face0MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0000276HP:0000276Long face0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0000276HP:0000276Long face0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM13274997448300415
HP:0000276HP:0000276Long face0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100224407577160760
HP:0000276HP:0000276Long face0MYL2 CL E G H46332020ORPHA1672827583160781
HP:0000276HP:0000276Long face0MYPN CL E G H84665171881ORPHA14666423246608517
HP:0000276HP:0000276Long face0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0000276HP:0000276Long face0NFIB CL E G H4781618286618286618286OMIM1171387785600728
HP:0000276HP:0000276Long face0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000276HP:0000276Long face0NHS CL E G H4810627ORPHA1523537820300457
HP:0000276HP:0000276Long face0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0000276HP:0000276Long face0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0000276HP:0000276Long face0NPHP1 CL E G H4867220497ORPHA1794037905607100
HP:0000276HP:0000276Long face0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0000276HP:0000276Long face0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM1726025994610916
HP:0000276HP:0000276Long face0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000276HP:0000276Long face0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0000276HP:0000276Long face0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000276HP:0000276Long face0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000276HP:0000276Long face0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000276HP:0000276Long face0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0000276HP:0000276Long face0PDE6D CL E G H51472754ORPHA11398788602676
HP:0000276HP:0000276Long face0PHF8 CL E G H2313385287ORPHA11620820672300560
HP:0000276HP:0000276Long face0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM11620820672300560
HP:0000276HP:0000276Long face0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA188723352607532
HP:0000276HP:0000276Long face0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0000276HP:0000276Long face0PQBP1 CL E G H1008493947ORPHA1222289330300463
HP:0000276HP:0000276Long face0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000276HP:0000276Long face0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000276HP:0000276Long face0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM11728016499300774
HP:0000276HP:0000276Long face0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM1602119863601592
HP:0000276HP:0000276Long face0RECQL4 CL E G H9401266280Rapadilino syndrome266280C1849453OMIM112220289949603780
HP:0000276HP:0000276Long face0RPGRIP1L CL E G H23322220497ORPHA15143229168610937
HP:0000276HP:0000276Long face0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000276HP:0000276Long face0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0000276HP:0000276Long face0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000276HP:0000276Long face0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688309410483180901
HP:0000276HP:0000276Long face0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000276HP:0000276Long face0SEC24C CL E G H9632567ORPHA12410705607185
HP:0000276HP:0000276Long face0SELENON CL E G H571902020ORPHA16335415999606210
HP:0000276HP:0000276Long face0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16335415999606210
HP:0000276HP:0000276Long face0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0000276HP:0000276Long face0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM11943318420612778
HP:0000276HP:0000276Long face0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000276HP:0000276Long face0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000276HP:0000276Long face0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12010210887601205
HP:0000276HP:0000276Long face0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0000276HP:0000276Long face0SLC2A10 CL E G H810313342ORPHA13533913444606145
HP:0000276HP:0000276Long face0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0000276HP:0000276Long face0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000276HP:0000276Long face0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000276HP:0000276Long face0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000276HP:0000276Long face0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0000276HP:0000276Long face0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM1955926769603109
HP:0000276HP:0000276Long face0SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0000276HP:0000276Long face0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11352711133604202
HP:0000276HP:0000276Long face0TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000276HP:0000276Long face0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0000276HP:0000276Long face0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA1611626113609863
HP:0000276HP:0000276Long face0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA11520325774613846
HP:0000276HP:0000276Long face0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0000276HP:0000276Long face0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0000276HP:0000276Long face0TMEM138 CL E G H515242318ORPHA196726944614459
HP:0000276HP:0000276Long face0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0000276HP:0000276Long face0TMEM216 CL E G H512592318ORPHA1810925018613277
HP:0000276HP:0000276Long face0TMEM231 CL E G H795832318ORPHA11915037234614949
HP:0000276HP:0000276Long face0TMEM237 CL E G H650622318ORPHA11122114432614423
HP:0000276HP:0000276Long face0TMEM237 CL E G H65062220497ORPHA11122114432614423
HP:0000276HP:0000276Long face0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA11122114432614423
HP:0000276HP:0000276Long face0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA117431628396609884
HP:0000276HP:0000276Long face0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000276HP:0000276Long face0TPM2 CL E G H7169171881ORPHA14019912011190990
HP:0000276HP:0000276Long face0TPM2 CL E G H71692020ORPHA14019912011190990
HP:0000276HP:0000276Long face0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14019912011190990
HP:0000276HP:0000276Long face0TPM3 CL E G H71702020ORPHA12822512012191030
HP:0000276HP:0000276Long face0TPM3 CL E G H7170171881ORPHA12822512012191030
HP:0000276HP:0000276Long face0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12822512012191030
HP:0000276HP:0000276Long face0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0000276HP:0000276Long face0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000276HP:0000276Long face0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000276HP:0000276Long face0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0000276HP:0000276Long face0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM12122220439300298
HP:0000276HP:0000276Long face0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
HP:0000276HP:0000276Long face0ZNF423 CL E G H230902318ORPHA1925216762604557
HP:0000276HP:0000276Long face0ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM1822513128314990
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000276HP:0000276Long face0ACTA1 CL E G H58171439ORPHA0217272129102610
HP:0000276HP:0000276Long face0AGRN CL E G H37579098914ORPHA018942329103320
HP:0000276HP:0000276Long face0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0000276HP:0000276Long face0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA013472121316611192
HP:0000276HP:0000276Long face0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000276HP:0000276Long face0BCR CL E G H613261330ORPHA022111014151410
HP:0000276HP:0000276Long face0BIN1 CL E G H274169186ORPHA0173151052601248
HP:0000276HP:0000276Long face0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM0173151052601248
HP:0000276HP:0000276Long face0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM054828178613734
HP:0000276HP:0000276Long face0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM0515530794607951
HP:0000276HP:0000276Long face0CHAT CL E G H110398914ORPHA0773741912118490
HP:0000276HP:0000276Long face0COL13A1 CL E G H130598914ORPHA03682190120350
HP:0000276HP:0000276Long face0CRKL CL E G H1399261330ORPHA0163762363602007
HP:0000276HP:0000276Long face0HUWE1 CL E G H1007585328ORPHA05442930892300697
HP:0000276HP:0000276Long face0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM07284024565612452
HP:0000276HP:0000276Long face0KBTBD13 CL E G H390594171439ORPHA01126037227613727
HP:0000276HP:0000276Long face0KLHL41 CL E G H10324171439ORPHA099816905607701
HP:0000276HP:0000276Long face0MAPK1 CL E G H5594261330ORPHA031126871176948
HP:0000276HP:0000276Long face0MEIS2 CL E G H4212261190ORPHA023577001601740
HP:0000276HP:0000276Long face0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM021847096300204
HP:0000276HP:0000276Long face0MYO9A CL E G H464998914ORPHA06957608604875
HP:0000276HP:0000276Long face0MYPN CL E G H84665171439ORPHA04666423246608517
HP:0000276HP:0000276Long face0NEB CL E G H4703171439ORPHA032130107720161650
HP:0000276HP:0000276Long face0OPHN1 CL E G H4983137831ORPHA0432458148300127
HP:0000276HP:0000276Long face0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM02208590602590
HP:0000276HP:0000276Long face0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0000276HP:0000276Long face0RYR1 CL E G H6261169186ORPHA0688309410483180901
HP:0000276HP:0000276Long face0SATB2 CL E G H23314251019ORPHA010627421637608148
HP:0000276HP:0000276Long face0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA06930510809608896
HP:0000276HP:0000276Long face0SLC18A3 CL E G H657298914ORPHA068910936600336
HP:0000276HP:0000276Long face0SLC25A1 CL E G H657698914ORPHA02442910979190315
HP:0000276HP:0000276Long face0SLC5A7 CL E G H6048298914ORPHA02016914025608761
HP:0000276HP:0000276Long face0SNAP25 CL E G H661698914ORPHA076411132600322
HP:0000276HP:0000276Long face0SPEG CL E G H10290169186ORPHA01319816901615950
HP:0000276HP:0000276Long face0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM0512930172608626
HP:0000276HP:0000276Long face0SYT2 CL E G H12783398914ORPHA033911510600104
HP:0000276HP:0000276Long face0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0000276HP:0000276Long face0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM03425311769190230
HP:0000276HP:0000276Long face0TPM2 CL E G H7169171439ORPHA04019912011190990
HP:0000276HP:0000276Long face0TPM3 CL E G H7170171439ORPHA02822512012191030
HP:0000276HP:0000276Long face0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM022730764605958
HP:0000276HP:0000276Long face0TTN CL E G H7273169186ORPHA03461438512403188840
HP:0000276HP:0000276Long face0VAMP1 CL E G H684398914ORPHA066412642185880
HP:0000276HP:0000276Long face0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM0115012786601570


Genes (170) :ACTA1 AGRN AHI1 AIP AKT1 ANKRD11 AP1S2 APC APC2 ARL13B ARL3 ARMC9 ARVCF ASXL1 ASXL2 ATAD3A ATP7A B3GLCT B9D1 BCOR BCR BIN1 BRAF BRWD3 C12ORF57 C12orf57 CAMTA1 CC2D2A CCDC115 CCDC174 CEP104 CEP120 CEP290 CEP41 CEP57 CHAMP1 CHAT CHRNB1 CHRNE CHRNG CLCN4 COL13A1 COMT CPLANE1 CRKL CSPP1 CXORF56 CXorf56 DOCK3 EBF3 EIF2S3 EYA1 FBN1 FBXO11 FGF3 FMR1 GFPT1 GP1BB GPR101 HACD1 HERC1 HIRA HNRNPK HUWE1 HYLS1 INPP5E ITGA7 JMJD1C KANSL1 KBTBD13 KIAA0556 KIAA0586 KIAA0753 KIF7 KLHL41 KRAS MAN1B1 MAP2K1 MAP2K2 MAP3K20 MAPK1 MED12 MEIS2 MGP MID2 MKS1 MMACHC MOCS1 MOCS2 MSTO1 MTM1 MYH7 MYL2 MYO9A MYPN NBAS NEB NFIB NFIX NHS NONO NPHP1 NSDHL NSUN2 OCRL OFD1 OPHN1 OTUD6B PAK1 PBX1 PDE6D PHF8 PIBF1 POC1A PQBP1 PRDX1 PTEN RAB39B RAPSN RECQL4 RPGRIP1L RREB1 RUSC2 RYR1 SATB2 SEC24C SELENON SETBP1 SETD2 SGCG SIN3A SIX1 SLC12A6 SLC18A3 SLC25A1 SLC2A10 SLC5A7 SLC6A8 SLC9A6 SMAD3 SNAP25 SNAP29 SPEG STRADA SYT2 TAB2 TAF1 TBX1 TCTN1 TCTN2 TCTN3 TGFB3 TLK2 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TPM2 TPM3 TRAIP TTN UBE3B UFD1 UPF3B VAMP1 WNT7A XRCC4 ZNF423 ZNF711

Diseases (130) :171439 2020 255310 98914 220493 475 963 744 176920 261250 85335 85329 304340 261584 617169 567 605039 617190 496790 617183 304150 709 261540 300166 261330 169186 255200 1340 300659 1777 218340 314647 614756 2318 1454 616828 616816 614114 616579 616313 608931 2990 265000 300114 2754 301013 618292 617330 300148 113650 166780 154700 618089 90024 2791 610706 908 300624 617011 616580 85328 610443 614202 309520 261190 85202 245150 300928 277400 252150 252160 502423 617675 310400 171881 614800 618286 614753 627 302350 300967 220497 300831 611091 534 137831 300486 505237 617452 618158 617641 85287 300263 614813 93947 309500 300271 616326 266280 617773 251019 612313 616078 616831 353 94065 613406 218000 3342 208050 300352 85278 300243 284984 613795 66631 609528 611087 228410 300966 615582 618050 609284 616777 2707 244450 300676 276820 616541 300803
 

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