Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal palate morphology (HP:0000174)help
..Starting node
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High palate (HP:0000218)help
Term ID: 218
Name: High palate
Synonym: Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Ogival palate; Palate high-arched; Palate, high-arched
Definition: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Comments:
Reference: HP:0000218
Genes and Diseases:
 
       Child Nodes:
........expandHigh, narrow palate (HP:0002705) help

 Sister Nodes: 
..expandAbnormal hard palate morphology (HP:0100737) help
..expandAbnormal soft palate morphology (HP:0100736) help
..expandNarrow palate (HP:0000189) help
..expandPalatal edema (HP:0031089) help
..expandPalate fistula (HP:0010294) help
..expandPalate telangiectasia (HP:0002707) help
..expandProminent median palatal raphe (HP:0002708) help
..expandProminent palatine ridges (HP:0010291) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000218HP:0000218High palate0A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000218HP:0000218High palate0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0000218HP:0000218High palate0ACTA1 CL E G H58171436ORPHA1392129102610
HP:0000218HP:0000218High palate0ACTA1 CL E G H582020ORPHA1392129102610
HP:0000218HP:0000218High palate0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0000218HP:0000218High palate0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0000218HP:0000218High palate0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0000218HP:0000218High palate0AGRN CL E G H37579098913ORPHA11782329103320
HP:0000218HP:0000218High palate0AK9 CL E G H22126498913ORPHA14833814615358
HP:0000218HP:0000218High palate0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000218HP:0000218High palate0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11577179603178
HP:0000218HP:0000218High palate0ALG14 CL E G H199857353327ORPHA110428287612866
HP:0000218HP:0000218High palate0ALG2 CL E G H85365353327ORPHA126223159607905
HP:0000218HP:0000218High palate0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0000218HP:0000218High palate0ANK1 CL E G H286251066ORPHA1642492612641
HP:0000218HP:0000218High palate0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000218HP:0000218High palate0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM14266211300836
HP:0000218HP:0000218High palate0AP1S2 CL E G H890585335ORPHA1218560300629
HP:0000218HP:0000218High palate0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0000218HP:0000218High palate0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0000218HP:0000218High palate0APC CL E G H324261584ORPHA111490583611731
HP:0000218HP:0000218High palate0APC2 CL E G H10297821ORPHA123524036612034
HP:0000218HP:0000218High palate0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000218HP:0000218High palate0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM144682607560
HP:0000218HP:0000218High palate0ARID1B CL E G H57492251056ORPHA1120618040614556
HP:0000218HP:0000218High palate0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0000218HP:0000218High palate0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000218HP:0000218High palate0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0000218HP:0000218High palate0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM149129357615115
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0000218HP:0000218High palate0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0000218HP:0000218High palate0ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0000218HP:0000218High palate0ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0000218HP:0000218High palate0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1172857108746
HP:0000218HP:0000218High palate0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000218HP:0000218High palate0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000218HP:0000218High palate0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000218HP:0000218High palate0B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0000218HP:0000218High palate0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0000218HP:0000218High palate0BIN1 CL E G H274169186ORPHA15521052601248
HP:0000218HP:0000218High palate0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM11281069112261
HP:0000218HP:0000218High palate0BRAF CL E G H673648ORPHA19481097164757
HP:0000218HP:0000218High palate0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0000218HP:0000218High palate0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0000218HP:0000218High palate0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM19481097164757
HP:0000218HP:0000218High palate0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0000218HP:0000218High palate0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM17061497300172
HP:0000218HP:0000218High palate0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000218HP:0000218High palate0CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0000218HP:0000218High palate0CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0000218HP:0000218High palate0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA17216892606037
HP:0000218HP:0000218High palate0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15671739603465
HP:0000218HP:0000218High palate0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1591750600023
HP:0000218HP:0000218High palate0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM145029298613529
HP:0000218HP:0000218High palate0CFL2 CL E G H1073171436ORPHA11471875601443
HP:0000218HP:0000218High palate0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0000218HP:0000218High palate0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM121620311616327
HP:0000218HP:0000218High palate0CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000218HP:0000218High palate0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000218HP:0000218High palate0CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000218HP:0000218High palate0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0000218HP:0000218High palate0CHRND CL E G H114498913ORPHA14081965100720
HP:0000218HP:0000218High palate0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0000218HP:0000218High palate0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0000218HP:0000218High palate0CHRNE CL E G H114598913ORPHA17951966100725
HP:0000218HP:0000218High palate0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000218HP:0000218High palate0CHRNG CL E G H11462990ORPHA12201967100730
HP:0000218HP:0000218High palate0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0000218HP:0000218High palate0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM121124464608429
HP:0000218HP:0000218High palate0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0000218HP:0000218High palate0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0000218HP:0000218High palate0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0000218HP:0000218High palate0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM16116999608757
HP:0000218HP:0000218High palate0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM13902092118955
HP:0000218HP:0000218High palate0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0000218HP:0000218High palate0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0000218HP:0000218High palate0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0000218HP:0000218High palate0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0000218HP:0000218High palate0COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000218HP:0000218High palate0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0000218HP:0000218High palate0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0000218HP:0000218High palate0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0000218HP:0000218High palate0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0000218HP:0000218High palate0CPLANE1 CL E G H652502754ORPHA1142625801614571
HP:0000218HP:0000218High palate0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1142625801614571
HP:0000218HP:0000218High palate0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0000218HP:0000218High palate0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000218HP:0000218High palate0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0000218HP:0000218High palate0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0000218HP:0000218High palate0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11962457115440
HP:0000218HP:0000218High palate0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13132516604275
HP:0000218HP:0000218High palate0CUL4B CL E G H845085293ORPHA13472555300304
HP:0000218HP:0000218High palate0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM13462689609312
HP:0000218HP:0000218High palate0DCHS1 CL E G H8642601390601390601390OMIM163613681603057
HP:0000218HP:0000218High palate0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12662731191311
HP:0000218HP:0000218High palate0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11382736601150
HP:0000218HP:0000218High palate0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM17416716616423
HP:0000218HP:0000218High palate0DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000218HP:0000218High palate0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM184026594610285
HP:0000218HP:0000218High palate0DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0000218HP:0000218High palate0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11383006603564
HP:0000218HP:0000218High palate0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0000218HP:0000218High palate0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0000218HP:0000218High palate0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA1813153602201
HP:0000218HP:0000218High palate0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM13583219604633
HP:0000218HP:0000218High palate0EFNB1 CL E G H19471520ORPHA12143226300035
HP:0000218HP:0000218High palate0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000218HP:0000218High palate0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13818683608546
HP:0000218HP:0000218High palate0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000218HP:0000218High palate0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0000218HP:0000218High palate0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0000218HP:0000218High palate0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0000218HP:0000218High palate0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM143527230609353
HP:0000218HP:0000218High palate0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0000218HP:0000218High palate0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM14343519601653
HP:0000218HP:0000218High palate0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM135022140611061
HP:0000218HP:0000218High palate0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1131223109612411
HP:0000218HP:0000218High palate0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM159703603134797
HP:0000218HP:0000218High palate0FBN2 CL E G H2201115ORPHA123093604612570
HP:0000218HP:0000218High palate0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM123093604612570
HP:0000218HP:0000218High palate0FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM1773686600483
HP:0000218HP:0000218High palate0FGFR1 CL E G H226093258ORPHA16883688136350
HP:0000218HP:0000218High palate0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM16883688136350
HP:0000218HP:0000218High palate0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM16883688136350
HP:0000218HP:0000218High palate0FGFR2 CL E G H226393260ORPHA15673689176943
HP:0000218HP:0000218High palate0FGFR2 CL E G H2263168624ORPHA15673689176943
HP:0000218HP:0000218High palate0FGFR2 CL E G H226393259ORPHA15673689176943
HP:0000218HP:0000218High palate0FGFR2 CL E G H226393258ORPHA15673689176943
HP:0000218HP:0000218High palate0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM15673689176943
HP:0000218HP:0000218High palate0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM17463690134934
HP:0000218HP:0000218High palate0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM115943700136850
HP:0000218HP:0000218High palate0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0000218HP:0000218High palate0FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA125383754300017
HP:0000218HP:0000218High palate0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0000218HP:0000218High palate0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11861092605597
HP:0000218HP:0000218High palate0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM121824861611045
HP:0000218HP:0000218High palate0GATA4 CL E G H2626251071ORPHA16304173600576
HP:0000218HP:0000218High palate0GBA CL E G H262985212ORPHA14177606463
HP:0000218HP:0000218High palate0GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0000218HP:0000218High palate0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000218HP:0000218High palate0GMPPB CL E G H29925353327ORPHA127322932615320
HP:0000218HP:0000218High palate0GNE CL E G H10020269921Sialuria269921C0342853OMIM178323657603824
HP:0000218HP:0000218High palate0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12614416602744
HP:0000218HP:0000218High palate0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1644612138890
HP:0000218HP:0000218High palate0HACD1 CL E G H92002020ORPHA11099639610467
HP:0000218HP:0000218High palate0HBA1 CL E G H303998791ORPHA13794823141800
HP:0000218HP:0000218High palate0HBA2 CL E G H304098791ORPHA13334824141850
HP:0000218HP:0000218High palate0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0000218HP:0000218High palate0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0000218HP:0000218High palate0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0000218HP:0000218High palate0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11295044600712
HP:0000218HP:0000218High palate0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000218HP:0000218High palate0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0000218HP:0000218High palate0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0000218HP:0000218High palate0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM17865213601860
HP:0000218HP:0000218High palate0HSPA9 CL E G H3313616854Even-plus syndrome616854C4225180OMIM1505244600548
HP:0000218HP:0000218High palate0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000218HP:0000218High palate0HYMAI CL E G H5706196191ORPHA1175326606546
HP:0000218HP:0000218High palate0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM129816931601746
HP:0000218HP:0000218High palate0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0000218HP:0000218High palate0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0000218HP:0000218High palate0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0000218HP:0000218High palate0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1128429077614620
HP:0000218HP:0000218High palate0IGBP1 CL E G H347652055ORPHA11515461300139
HP:0000218HP:0000218High palate0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11515461300139
HP:0000218HP:0000218High palate0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0000218HP:0000218High palate0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000218HP:0000218High palate0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM15314361606195
HP:0000218HP:0000218High palate0ITGA7 CL E G H36792020ORPHA17186143600536
HP:0000218HP:0000218High palate0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0000218HP:0000218High palate0KAT6B CL E G H23522648ORPHA160517582605880
HP:0000218HP:0000218High palate0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0000218HP:0000218High palate0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0000218HP:0000218High palate0KCNJ6 CL E G H3763435628ORPHA11226267600877
HP:0000218HP:0000218High palate0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1906283605874
HP:0000218HP:0000218High palate0KDM6A CL E G H74032322ORPHA167812637300128
HP:0000218HP:0000218High palate0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0000218HP:0000218High palate0KIAA0753 CL E G H98512754ORPHA121729110617112
HP:0000218HP:0000218High palate0KIF7 CL E G H3746542754ORPHA197730497611254
HP:0000218HP:0000218High palate0KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0000218HP:0000218High palate0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM125815646611119
HP:0000218HP:0000218High palate0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0000218HP:0000218High palate0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM113177132159555
HP:0000218HP:0000218High palate0KMT2D CL E G H80852322ORPHA129397133602113
HP:0000218HP:0000218High palate0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0000218HP:0000218High palate0KRAS CL E G H3845648ORPHA14406407190070
HP:0000218HP:0000218High palate0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM14406407190070
HP:0000218HP:0000218High palate0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0000218HP:0000218High palate0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000218HP:0000218High palate0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM121623038612625
HP:0000218HP:0000218High palate0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000218HP:0000218High palate0LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0000218HP:0000218High palate0LRP4 CL E G H403898913ORPHA17906696604270
HP:0000218HP:0000218High palate0LRRC8A CL E G H56262613506Agammaglobulinemia 5, autosomal dominant613506C3150753OMIM122719027608360
HP:0000218HP:0000218High palate0LZTR1 CL E G H8216648ORPHA124086742600574
HP:0000218HP:0000218High palate0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0000218HP:0000218High palate0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13986840176872
HP:0000218HP:0000218High palate0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0000218HP:0000218High palate0MAP3K20 CL E G H517762020ORPHA124317797609479
HP:0000218HP:0000218High palate0MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11616859602614
HP:0000218HP:0000218High palate0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM117786990300005
HP:0000218HP:0000218High palate0MED12 CL E G H9968776ORPHA1123611957300188
HP:0000218HP:0000218High palate0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1123611957300188
HP:0000218HP:0000218High palate0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0000218HP:0000218High palate0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM14863233604267
HP:0000218HP:0000218High palate0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM13557095300552
HP:0000218HP:0000218High palate0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0000218HP:0000218High palate0MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0000218HP:0000218High palate0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0000218HP:0000218High palate0MUSK CL E G H459398913ORPHA14967525601296
HP:0000218HP:0000218High palate0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14967525601296
HP:0000218HP:0000218High palate0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM11467559164840
HP:0000218HP:0000218High palate0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0000218HP:0000218High palate0MYH3 CL E G H46211147ORPHA16417573160720
HP:0000218HP:0000218High palate0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000218HP:0000218High palate0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM16417573160720
HP:0000218HP:0000218High palate0MYH7 CL E G H4625324604ORPHA136127577160760
HP:0000218HP:0000218High palate0MYH7 CL E G H462559135ORPHA136127577160760
HP:0000218HP:0000218High palate0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0000218HP:0000218High palate0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0000218HP:0000218High palate0MYL2 CL E G H46332020ORPHA14457583160781
HP:0000218HP:0000218High palate0MYMK CL E G H3898271358ORPHA17533778615345
HP:0000218HP:0000218High palate0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1116218150607295
HP:0000218HP:0000218High palate0MYPN CL E G H84665171881ORPHA1126323246608517
HP:0000218HP:0000218High palate0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0000218HP:0000218High palate0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0000218HP:0000218High palate0NALCN CL E G H2592321147ORPHA165319082611549
HP:0000218HP:0000218High palate0NEB CL E G H4703171436ORPHA164447720161650
HP:0000218HP:0000218High palate0NEB CL E G H4703399103ORPHA164447720161650
HP:0000218HP:0000218High palate0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0000218HP:0000218High palate0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA15257744604588
HP:0000218HP:0000218High palate0NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM18218591609798
HP:0000218HP:0000218High palate0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0000218HP:0000218High palate0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0000218HP:0000218High palate0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000218HP:0000218High palate0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0000218HP:0000218High palate0NRAS CL E G H4893648ORPHA12507989164790
HP:0000218HP:0000218High palate0NSD1 CL E G H64324821ORPHA1139014234606681
HP:0000218HP:0000218High palate0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0000218HP:0000218High palate0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM114929914607617
HP:0000218HP:0000218High palate0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM170929092610991
HP:0000218HP:0000218High palate0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11038104602876
HP:0000218HP:0000218High palate0OFD1 CL E G H84812750ORPHA17892567300170
HP:0000218HP:0000218High palate0OFD1 CL E G H84812754ORPHA17892567300170
HP:0000218HP:0000218High palate0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM17892567300170
HP:0000218HP:0000218High palate0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17892567300170
HP:0000218HP:0000218High palate0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM12148487601902
HP:0000218HP:0000218High palate0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM110618028610107
HP:0000218HP:0000218High palate0OTUD6B CL E G H51633505237ORPHA17024281612021
HP:0000218HP:0000218High palate0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM17024281612021
HP:0000218HP:0000218High palate0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0000218HP:0000218High palate0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0000218HP:0000218High palate0PDE6D CL E G H51472754ORPHA1718788602676
HP:0000218HP:0000218High palate0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0000218HP:0000218High palate0PEX1 CL E G H5189912ORPHA112058850602136
HP:0000218HP:0000218High palate0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0000218HP:0000218High palate0PEX10 CL E G H5192912ORPHA16548851602859
HP:0000218HP:0000218High palate0PEX11B CL E G H8799912ORPHA13508853603867
HP:0000218HP:0000218High palate0PEX12 CL E G H5193912ORPHA13608854601758
HP:0000218HP:0000218High palate0PEX13 CL E G H5194912ORPHA13978855601789
HP:0000218HP:0000218High palate0PEX14 CL E G H5195912ORPHA13748856601791
HP:0000218HP:0000218High palate0PEX16 CL E G H9409912ORPHA13468857603360
HP:0000218HP:0000218High palate0PEX19 CL E G H5824912ORPHA13049713600279
HP:0000218HP:0000218High palate0PEX2 CL E G H5828912ORPHA13669717170993
HP:0000218HP:0000218High palate0PEX26 CL E G H55670912ORPHA143122965608666
HP:0000218HP:0000218High palate0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM143122965608666
HP:0000218HP:0000218High palate0PEX3 CL E G H8504912ORPHA12718858603164
HP:0000218HP:0000218High palate0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0000218HP:0000218High palate0PEX5 CL E G H5830912ORPHA16899719600414
HP:0000218HP:0000218High palate0PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM16899719600414
HP:0000218HP:0000218High palate0PEX6 CL E G H5190912ORPHA110858859601498
HP:0000218HP:0000218High palate0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM12658907172100
HP:0000218HP:0000218High palate0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM124915673612870
HP:0000218HP:0000218High palate0PIEZO2 CL E G H63895376ORPHA175526270613629
HP:0000218HP:0000218High palate0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM175526270613629
HP:0000218HP:0000218High palate0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM175526270613629
HP:0000218HP:0000218High palate0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0000218HP:0000218High palate0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM175526270613629
HP:0000218HP:0000218High palate0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0000218HP:0000218High palate0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1188964600154
HP:0000218HP:0000218High palate0PIGN CL E G H235562059ORPHA18578967606097
HP:0000218HP:0000218High palate0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA18578967606097
HP:0000218HP:0000218High palate0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0000218HP:0000218High palate0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0000218HP:0000218High palate0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13628213610662
HP:0000218HP:0000218High palate0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000218HP:0000218High palate0PLAA CL E G H9373521426ORPHA13389043603873
HP:0000218HP:0000218High palate0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0000218HP:0000218High palate0PLAGL1 CL E G H532596191ORPHA1329046603044
HP:0000218HP:0000218High palate0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM147818801614787
HP:0000218HP:0000218High palate0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM11619282600590
HP:0000218HP:0000218High palate0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12699330300463
HP:0000218HP:0000218High palate0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM113125557610087
HP:0000218HP:0000218High palate0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM144319129610936
HP:0000218HP:0000218High palate0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000218HP:0000218High palate0PTPN11 CL E G H5781648ORPHA17169644176876
HP:0000218HP:0000218High palate0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM17169644176876
HP:0000218HP:0000218High palate0PTPN14 CL E G H5784613611Choanal atresia and lymphedema613611C3150875OMIM11109647603155
HP:0000218HP:0000218High palate0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13939701600473
HP:0000218HP:0000218High palate0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0000218HP:0000218High palate0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM133715508608109
HP:0000218HP:0000218High palate0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0000218HP:0000218High palate0RAB18 CL E G H229312510ORPHA118014244602207
HP:0000218HP:0000218High palate0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM118714263606144
HP:0000218HP:0000218High palate0RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0000218HP:0000218High palate0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA131717063602536
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA147417168609275
HP:0000218HP:0000218High palate0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM147417168609275
HP:0000218HP:0000218High palate0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0000218HP:0000218High palate0RAF1 CL E G H5894648ORPHA18279829164760
HP:0000218HP:0000218High palate0RAP1A CL E G H59062322ORPHA1389855179520
HP:0000218HP:0000218High palate0RAP1B CL E G H59082322ORPHA1309857179530
HP:0000218HP:0000218High palate0RAPSN CL E G H591398913ORPHA14339863601592
HP:0000218HP:0000218High palate0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM14339863601592
HP:0000218HP:0000218High palate0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM14339863601592
HP:0000218HP:0000218High palate0RASA2 CL E G H5922648ORPHA13719872601589
HP:0000218HP:0000218High palate0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM12299896300080
HP:0000218HP:0000218High palate0RECQL4 CL E G H94011225ORPHA136669949603780
HP:0000218HP:0000218High palate0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM136669949603780
HP:0000218HP:0000218High palate0RECQL4 CL E G H9401266280Rapadilino syndrome266280C1849453OMIM136669949603780
HP:0000218HP:0000218High palate0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0000218HP:0000218High palate0RIN2 CL E G H54453217335ORPHA130118750610222
HP:0000218HP:0000218High palate0RIT1 CL E G H6016648ORPHA121010023609591
HP:0000218HP:0000218High palate0RNASEH1 CL E G H246243329336ORPHA110418466604123
HP:0000218HP:0000218High palate0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117210402603474
HP:0000218HP:0000218High palate0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM11610410603683
HP:0000218HP:0000218High palate0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0000218HP:0000218High palate0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0000218HP:0000218High palate0RRAS CL E G H6237648ORPHA121310447165090
HP:0000218HP:0000218High palate0RRM2B CL E G H50484329336ORPHA129317296604712
HP:0000218HP:0000218High palate0RYR1 CL E G H6261169186ORPHA1506210483180901
HP:0000218HP:0000218High palate0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0000218HP:0000218High palate0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0000218HP:0000218High palate0SATB2 CL E G H23314251019ORPHA156621637608148
HP:0000218HP:0000218High palate0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM156621637608148
HP:0000218HP:0000218High palate0SC5D CL E G H630946059ORPHA122010547602286
HP:0000218HP:0000218High palate0SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM144619869613619
HP:0000218HP:0000218High palate0SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000218HP:0000218High palate0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM128610706607186
HP:0000218HP:0000218High palate0SELENON CL E G H571902020ORPHA153715999606210
HP:0000218HP:0000218High palate0SELENON CL E G H57190324604ORPHA153715999606210
HP:0000218HP:0000218High palate0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0000218HP:0000218High palate0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0000218HP:0000218High palate0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA117410736609297
HP:0000218HP:0000218High palate0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM19310760600960
HP:0000218HP:0000218High palate0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM180415573611060
HP:0000218HP:0000218High palate0SETD2 CL E G H29072821ORPHA183018420612778
HP:0000218HP:0000218High palate0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0000218HP:0000218High palate0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM142829242613293
HP:0000218HP:0000218High palate0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0000218HP:0000218High palate0SHOX CL E G H6473314795ORPHA131110853312865
HP:0000218HP:0000218High palate0SHOX CL E G H64732632ORPHA131110853312865
HP:0000218HP:0000218High palate0SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM131110853312865
HP:0000218HP:0000218High palate0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM121819353607776
HP:0000218HP:0000218High palate0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM115710887601205
HP:0000218HP:0000218High palate0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM191110914604878
HP:0000218HP:0000218High palate0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM141110933604322
HP:0000218HP:0000218High palate0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM149313444606145
HP:0000218HP:0000218High palate0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM122820859608735
HP:0000218HP:0000218High palate0SMAD3 CL E G H4088284984ORPHA18346769603109
HP:0000218HP:0000218High palate0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM18346769603109
HP:0000218HP:0000218High palate0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0000218HP:0000218High palate0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0000218HP:0000218High palate0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0000218HP:0000218High palate0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1101129090614982
HP:0000218HP:0000218High palate0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18620318608488
HP:0000218HP:0000218High palate0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM17411153182282
HP:0000218HP:0000218High palate0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0000218HP:0000218High palate0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM154911183182465
HP:0000218HP:0000218High palate0SOS1 CL E G H6654648ORPHA1122411187182530
HP:0000218HP:0000218High palate0SOS2 CL E G H6655648ORPHA191611188601247
HP:0000218HP:0000218High palate0SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM19317321606633
HP:0000218HP:0000218High palate0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM123029022614140
HP:0000218HP:0000218High palate0SPEG CL E G H10290169186ORPHA190716901615950
HP:0000218HP:0000218High palate0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0000218HP:0000218High palate0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM160320249609291
HP:0000218HP:0000218High palate0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM118828423615521
HP:0000218HP:0000218High palate0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM150511364102582
HP:0000218HP:0000218High palate0TAB2 CL E G H23118228410ORPHA117517075605101
HP:0000218HP:0000218High palate0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0000218HP:0000218High palate0TBC1D20 CL E G H1286372510ORPHA115416133611663
HP:0000218HP:0000218High palate0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM179529203613577
HP:0000218HP:0000218High palate0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM197211592602054
HP:0000218HP:0000218High palate0TBX4 CL E G H9496147891Ischiopatellar dysplasia147891C1840061OMIM123811603601719
HP:0000218HP:0000218High palate0TCTN3 CL E G H261232754ORPHA132724519613847
HP:0000218HP:0000218High palate0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM132724519613847
HP:0000218HP:0000218High palate0TFAP2A CL E G H70201297ORPHA115811742107580
HP:0000218HP:0000218High palate0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM112220324616146
HP:0000218HP:0000218High palate0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM154011768190220
HP:0000218HP:0000218High palate0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0000218HP:0000218High palate0TGFBR1 CL E G H704660030ORPHA177811772190181
HP:0000218HP:0000218High palate0TGFBR2 CL E G H704860030ORPHA184211773190182
HP:0000218HP:0000218High palate0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM112211842608439
HP:0000218HP:0000218High palate0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0000218HP:0000218High palate0TMEM216 CL E G H512592754ORPHA119525018613277
HP:0000218HP:0000218High palate0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM119525018613277
HP:0000218HP:0000218High palate0TNNI2 CL E G H71361147ORPHA111311946191043
HP:0000218HP:0000218High palate0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000218HP:0000218High palate0TNNT3 CL E G H71401147ORPHA119611950600692
HP:0000218HP:0000218High palate0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000218HP:0000218High palate0TPM2 CL E G H7169171436ORPHA128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H7169171881ORPHA128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H71692020ORPHA128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H71691147ORPHA128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000218HP:0000218High palate0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM128012011190990
HP:0000218HP:0000218High palate0TPM3 CL E G H7170171881ORPHA130012012191030
HP:0000218HP:0000218High palate0TPM3 CL E G H71702020ORPHA130012012191030
HP:0000218HP:0000218High palate0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0000218HP:0000218High palate0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM130012012191030
HP:0000218HP:0000218High palate0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM193012303601893
HP:0000218HP:0000218High palate0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM124712306604506
HP:0000218HP:0000218High palate0TRIP4 CL E G H9325486815ORPHA113912310604501
HP:0000218HP:0000218High palate0TRPS1 CL E G H722777258ORPHA140012340604386
HP:0000218HP:0000218High palate0TTN CL E G H7273324604ORPHA12285912403188840
HP:0000218HP:0000218High palate0TTN CL E G H7273169186ORPHA12285912403188840
HP:0000218HP:0000218High palate0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM18520778191130
HP:0000218HP:0000218High palate0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM117612428601622
HP:0000218HP:0000218High palate0UPF3B CL E G H65109776ORPHA131420439300298
HP:0000218HP:0000218High palate0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0000218HP:0000218High palate0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0000218HP:0000218High palate0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM152329250613602
HP:0000218HP:0000218High palate0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113825928616144
HP:0000218HP:0000218High palate0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM18312786601570
HP:0000218HP:0000218High palate0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA115624249610957
HP:0000218HP:0000218High palate0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM124621143614064
HP:0000218HP:0000218High palate0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0000218HP:0000218High palate0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM117820342300576
HP:0000218HP:0000218High palate0ZDHHC9 CL E G H51114776ORPHA133118475300646
HP:0000218HP:0000218High palate0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM117612877606480
HP:0000218HP:0000218High palate0ZNF341 CL E G H84905618282618282618282OMIM1313159920
HP:0000218HP:0002705High, narrow palate1A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0000218HP:0002705High, narrow palate1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1130757603234
HP:0000218HP:0002705High, narrow palate1ACTA1 CL E G H582020ORPHA1392129102610
HP:0000218HP:0002705High, narrow palate1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0000218HP:0002705High, narrow palate1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0000218HP:0002705High, narrow palate1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0000218HP:0002705High, narrow palate1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0000218HP:0002705High, narrow palate1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000218HP:0002705High, narrow palate1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000218HP:0002705High, narrow palate1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000218HP:0002705High, narrow palate1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11577179603178
HP:0000218HP:0002705High, narrow palate1ALG14 CL E G H199857353327ORPHA110428287612866
HP:0000218HP:0002705High, narrow palate1ALG2 CL E G H85365353327ORPHA126223159607905
HP:0000218HP:0002705High, narrow palate1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0000218HP:0002705High, narrow palate1ANK1 CL E G H286251066ORPHA1642492612641
HP:0000218HP:0002705High, narrow palate1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1151521316611192
HP:0000218HP:0002705High, narrow palate1ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM14266211300836
HP:0000218HP:0002705High, narrow palate1AP1S2 CL E G H890585335ORPHA1218560300629
HP:0000218HP:0002705High, narrow palate1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0000218HP:0002705High, narrow palate1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0000218HP:0002705High, narrow palate1APC CL E G H324261584ORPHA111490583611731
HP:0000218HP:0002705High, narrow palate1APC2 CL E G H10297821ORPHA123524036612034
HP:0000218HP:0002705High, narrow palate1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000218HP:0002705High, narrow palate1ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM144682607560
HP:0000218HP:0002705High, narrow palate1ARID1B CL E G H57492251056ORPHA1120618040614556
HP:0000218HP:0002705High, narrow palate1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0000218HP:0002705High, narrow palate1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0000218HP:0002705High, narrow palate1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0000218HP:0002705High, narrow palate1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM149129357615115
HP:0000218HP:0002705High, narrow palate1ATP6V0A2 CL E G H235452834ORPHA148418481611716
HP:0000218HP:0002705High, narrow palate1ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0000218HP:0002705High, narrow palate1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0000218HP:0002705High, narrow palate1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0000218HP:0002705High, narrow palate1ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0000218HP:0002705High, narrow palate1ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0000218HP:0002705High, narrow palate1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1172857108746
HP:0000218HP:0002705High, narrow palate1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000218HP:0002705High, narrow palate1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM12273882601215
HP:0000218HP:0002705High, narrow palate1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11544886300032
HP:0000218HP:0002705High, narrow palate1B3GALT6 CL E G H12679293359ORPHA136617978615291
HP:0000218HP:0002705High, narrow palate1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1694966209901
HP:0000218HP:0002705High, narrow palate1BIN1 CL E G H274169186ORPHA15521052601248
HP:0000218HP:0002705High, narrow palate1BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM11281069112261
HP:0000218HP:0002705High, narrow palate1BRAF CL E G H673648ORPHA19481097164757
HP:0000218HP:0002705High, narrow palate1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0000218HP:0002705High, narrow palate1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0000218HP:0002705High, narrow palate1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM19481097164757
HP:0000218HP:0002705High, narrow palate1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0000218HP:0002705High, narrow palate1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM17061497300172
HP:0000218HP:0002705High, narrow palate1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000218HP:0002705High, narrow palate1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0000218HP:0002705High, narrow palate1CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0000218HP:0002705High, narrow palate1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA17216892606037
HP:0000218HP:0002705High, narrow palate1CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15671739603465
HP:0000218HP:0002705High, narrow palate1CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM1591750600023
HP:0000218HP:0002705High, narrow palate1CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM145029298613529
HP:0000218HP:0002705High, narrow palate1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0000218HP:0002705High, narrow palate1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0000218HP:0002705High, narrow palate1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM121620311616327
HP:0000218HP:0002705High, narrow palate1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000218HP:0002705High, narrow palate1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000218HP:0002705High, narrow palate1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000218HP:0002705High, narrow palate1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0000218HP:0002705High, narrow palate1CHRND CL E G H114498913ORPHA14081965100720
HP:0000218HP:0002705High, narrow palate1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0000218HP:0002705High, narrow palate1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0000218HP:0002705High, narrow palate1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000218HP:0002705High, narrow palate1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000218HP:0002705High, narrow palate1CHRNG CL E G H11462990ORPHA12201967100730
HP:0000218HP:0002705High, narrow palate1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12201967100730
HP:0000218HP:0002705High, narrow palate1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM121124464608429
HP:0000218HP:0002705High, narrow palate1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0000218HP:0002705High, narrow palate1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM13317412607672
HP:0000218HP:0002705High, narrow palate1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0000218HP:0002705High, narrow palate1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM16116999608757
HP:0000218HP:0002705High, narrow palate1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM13902092118955
HP:0000218HP:0002705High, narrow palate1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0000218HP:0002705High, narrow palate1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0000218HP:0002705High, narrow palate1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0000218HP:0002705High, narrow palate1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0000218HP:0002705High, narrow palate1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000218HP:0002705High, narrow palate1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0000218HP:0002705High, narrow palate1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0000218HP:0002705High, narrow palate1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0000218HP:0002705High, narrow palate1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0000218HP:0002705High, narrow palate1CPLANE1 CL E G H652502754ORPHA1142625801614571
HP:0000218HP:0002705High, narrow palate1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1142625801614571
HP:0000218HP:0002705High, narrow palate1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0000218HP:0002705High, narrow palate1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000218HP:0002705High, narrow palate1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0000218HP:0002705High, narrow palate1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0000218HP:0002705High, narrow palate1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11962457115440
HP:0000218HP:0002705High, narrow palate1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13132516604275
HP:0000218HP:0002705High, narrow palate1CUL4B CL E G H845085293ORPHA13472555300304
HP:0000218HP:0002705High, narrow palate1DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM13462689609312
HP:0000218HP:0002705High, narrow palate1DCHS1 CL E G H8642601390601390601390OMIM163613681603057
HP:0000218HP:0002705High, narrow palate1DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12662731191311
HP:0000218HP:0002705High, narrow palate1DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11382736601150
HP:0000218HP:0002705High, narrow palate1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM17416716616423
HP:0000218HP:0002705High, narrow palate1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000218HP:0002705High, narrow palate1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM184026594610285
HP:0000218HP:0002705High, narrow palate1DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0000218HP:0002705High, narrow palate1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11383006603564
HP:0000218HP:0002705High, narrow palate1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0000218HP:0002705High, narrow palate1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0000218HP:0002705High, narrow palate1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA1813153602201
HP:0000218HP:0002705High, narrow palate1EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM13583219604633
HP:0000218HP:0002705High, narrow palate1EFNB1 CL E G H19471520ORPHA12143226300035
HP:0000218HP:0002705High, narrow palate1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000218HP:0002705High, narrow palate1EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13818683608546
HP:0000218HP:0002705High, narrow palate1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000218HP:0002705High, narrow palate1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0000218HP:0002705High, narrow palate1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0000218HP:0002705High, narrow palate1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0000218HP:0002705High, narrow palate1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM143527230609353
HP:0000218HP:0002705High, narrow palate1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0000218HP:0002705High, narrow palate1EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM14343519601653
HP:0000218HP:0002705High, narrow palate1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM135022140611061
HP:0000218HP:0002705High, narrow palate1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1131223109612411
HP:0000218HP:0002705High, narrow palate1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM159703603134797
HP:0000218HP:0002705High, narrow palate1FBN2 CL E G H2201115ORPHA123093604612570
HP:0000218HP:0002705High, narrow palate1FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM123093604612570
HP:0000218HP:0002705High, narrow palate1FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM1773686600483
HP:0000218HP:0002705High, narrow palate1FGFR1 CL E G H226093258ORPHA16883688136350
HP:0000218HP:0002705High, narrow palate1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM16883688136350
HP:0000218HP:0002705High, narrow palate1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM16883688136350
HP:0000218HP:0002705High, narrow palate1FGFR2 CL E G H226393258ORPHA15673689176943
HP:0000218HP:0002705High, narrow palate1FGFR2 CL E G H226393260ORPHA15673689176943
HP:0000218HP:0002705High, narrow palate1FGFR2 CL E G H2263168624ORPHA15673689176943
HP:0000218HP:0002705High, narrow palate1FGFR2 CL E G H226393259ORPHA15673689176943
HP:0000218HP:0002705High, narrow palate1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM15673689176943
HP:0000218HP:0002705High, narrow palate1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM17463690134934
HP:0000218HP:0002705High, narrow palate1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM115943700136850
HP:0000218HP:0002705High, narrow palate1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0000218HP:0002705High, narrow palate1FLNA CL E G H23161826Dexamethasone sensitive hypertensionORPHA125383754300017
HP:0000218HP:0002705High, narrow palate1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM125383754300017
HP:0000218HP:0002705High, narrow palate1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11861092605597
HP:0000218HP:0002705High, narrow palate1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM121824861611045
HP:0000218HP:0002705High, narrow palate1GATA4 CL E G H2626251071ORPHA16304173600576
HP:0000218HP:0002705High, narrow palate1GBA CL E G H262985212ORPHA14177606463
HP:0000218HP:0002705High, narrow palate1GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0000218HP:0002705High, narrow palate1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000218HP:0002705High, narrow palate1GMPPB CL E G H29925353327ORPHA127322932615320
HP:0000218HP:0002705High, narrow palate1GNE CL E G H10020269921Sialuria269921C0342853OMIM178323657603824
HP:0000218HP:0002705High, narrow palate1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12614416602744
HP:0000218HP:0002705High, narrow palate1GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1644612138890
HP:0000218HP:0002705High, narrow palate1HACD1 CL E G H92002020ORPHA11099639610467
HP:0000218HP:0002705High, narrow palate1HBA1 CL E G H303998791ORPHA13794823141800
HP:0000218HP:0002705High, narrow palate1HBA2 CL E G H304098791ORPHA13334824141850
HP:0000218HP:0002705High, narrow palate1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0000218HP:0002705High, narrow palate1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0000218HP:0002705High, narrow palate1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0000218HP:0002705High, narrow palate1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11295044600712
HP:0000218HP:0002705High, narrow palate1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000218HP:0002705High, narrow palate1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0000218HP:0002705High, narrow palate1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0000218HP:0002705High, narrow palate1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM17865213601860
HP:0000218HP:0002705High, narrow palate1HSPA9 CL E G H3313616854Even-plus syndrome616854C4225180OMIM1505244600548
HP:0000218HP:0002705High, narrow palate1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000218HP:0002705High, narrow palate1HYMAI CL E G H5706196191ORPHA1175326606546
HP:0000218HP:0002705High, narrow palate1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM129816931601746
HP:0000218HP:0002705High, narrow palate1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0000218HP:0002705High, narrow palate1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0000218HP:0002705High, narrow palate1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0000218HP:0002705High, narrow palate1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1128429077614620
HP:0000218HP:0002705High, narrow palate1IGBP1 CL E G H347652055ORPHA11515461300139
HP:0000218HP:0002705High, narrow palate1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11515461300139
HP:0000218HP:0002705High, narrow palate1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0000218HP:0002705High, narrow palate1INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000218HP:0002705High, narrow palate1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM15314361606195
HP:0000218HP:0002705High, narrow palate1ITGA7 CL E G H36792020ORPHA17186143600536
HP:0000218HP:0002705High, narrow palate1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0000218HP:0002705High, narrow palate1KAT6B CL E G H23522648ORPHA160517582605880
HP:0000218HP:0002705High, narrow palate1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0000218HP:0002705High, narrow palate1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0000218HP:0002705High, narrow palate1KCNJ6 CL E G H3763435628ORPHA11226267600877
HP:0000218HP:0002705High, narrow palate1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1906283605874
HP:0000218HP:0002705High, narrow palate1KDM6A CL E G H74032322ORPHA167812637300128
HP:0000218HP:0002705High, narrow palate1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0000218HP:0002705High, narrow palate1KIAA0753 CL E G H98512754ORPHA121729110617112
HP:0000218HP:0002705High, narrow palate1KIF7 CL E G H3746542754ORPHA197730497611254
HP:0000218HP:0002705High, narrow palate1KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0000218HP:0002705High, narrow palate1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM125815646611119
HP:0000218HP:0002705High, narrow palate1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0000218HP:0002705High, narrow palate1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM113177132159555
HP:0000218HP:0002705High, narrow palate1KMT2D CL E G H80852322ORPHA129397133602113
HP:0000218HP:0002705High, narrow palate1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0000218HP:0002705High, narrow palate1KRAS CL E G H3845648ORPHA14406407190070
HP:0000218HP:0002705High, narrow palate1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM14406407190070
HP:0000218HP:0002705High, narrow palate1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0000218HP:0002705High, narrow palate1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000218HP:0002705High, narrow palate1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM121623038612625
HP:0000218HP:0002705High, narrow palate1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000218HP:0002705High, narrow palate1LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0000218HP:0002705High, narrow palate1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000218HP:0002705High, narrow palate1LRRC8A CL E G H56262613506Agammaglobulinemia 5, autosomal dominant613506C3150753OMIM122719027608360
HP:0000218HP:0002705High, narrow palate1LZTR1 CL E G H8216648ORPHA124086742600574
HP:0000218HP:0002705High, narrow palate1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0000218HP:0002705High, narrow palate1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13986840176872
HP:0000218HP:0002705High, narrow palate1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0000218HP:0002705High, narrow palate1MAP3K20 CL E G H517762020ORPHA124317797609479
HP:0000218HP:0002705High, narrow palate1MAP3K7 CL E G H68851826Dexamethasone sensitive hypertensionORPHA11616859602614
HP:0000218HP:0002705High, narrow palate1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM117786990300005
HP:0000218HP:0002705High, narrow palate1MED12 CL E G H9968776ORPHA1123611957300188
HP:0000218HP:0002705High, narrow palate1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1123611957300188
HP:0000218HP:0002705High, narrow palate1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0000218HP:0002705High, narrow palate1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM14863233604267
HP:0000218HP:0002705High, narrow palate1MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM13557095300552
HP:0000218HP:0002705High, narrow palate1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0000218HP:0002705High, narrow palate1MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0000218HP:0002705High, narrow palate1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0000218HP:0002705High, narrow palate1MUSK CL E G H459398913ORPHA14967525601296
HP:0000218HP:0002705High, narrow palate1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14967525601296
HP:0000218HP:0002705High, narrow palate1MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM11467559164840
HP:0000218HP:0002705High, narrow palate1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0000218HP:0002705High, narrow palate1MYH3 CL E G H46211147ORPHA16417573160720
HP:0000218HP:0002705High, narrow palate1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000218HP:0002705High, narrow palate1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM16417573160720
HP:0000218HP:0002705High, narrow palate1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0000218HP:0002705High, narrow palate1MYH7 CL E G H462559135ORPHA136127577160760
HP:0000218HP:0002705High, narrow palate1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0000218HP:0002705High, narrow palate1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0000218HP:0002705High, narrow palate1MYL2 CL E G H46332020ORPHA14457583160781
HP:0000218HP:0002705High, narrow palate1MYMK CL E G H3898271358ORPHA17533778615345
HP:0000218HP:0002705High, narrow palate1MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1116218150607295
HP:0000218HP:0002705High, narrow palate1MYPN CL E G H84665171881ORPHA1126323246608517
HP:0000218HP:0002705High, narrow palate1MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1126323246608517
HP:0000218HP:0002705High, narrow palate1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0000218HP:0002705High, narrow palate1NALCN CL E G H2592321147ORPHA165319082611549
HP:0000218HP:0002705High, narrow palate1NEB CL E G H4703171436ORPHA164447720161650
HP:0000218HP:0002705High, narrow palate1NEB CL E G H4703399103ORPHA164447720161650
HP:0000218HP:0002705High, narrow palate1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0000218HP:0002705High, narrow palate1NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA15257744604588
HP:0000218HP:0002705High, narrow palate1NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM18218591609798
HP:0000218HP:0002705High, narrow palate1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0000218HP:0002705High, narrow palate1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0000218HP:0002705High, narrow palate1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000218HP:0002705High, narrow palate1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM111337883600276
HP:0000218HP:0002705High, narrow palate1NRAS CL E G H4893648ORPHA12507989164790
HP:0000218HP:0002705High, narrow palate1NSD1 CL E G H64324821ORPHA1139014234606681
HP:0000218HP:0002705High, narrow palate1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0000218HP:0002705High, narrow palate1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM114929914607617
HP:0000218HP:0002705High, narrow palate1OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM170929092610991
HP:0000218HP:0002705High, narrow palate1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11038104602876
HP:0000218HP:0002705High, narrow palate1OFD1 CL E G H84812754ORPHA17892567300170
HP:0000218HP:0002705High, narrow palate1OFD1 CL E G H84812750ORPHA17892567300170
HP:0000218HP:0002705High, narrow palate1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM17892567300170
HP:0000218HP:0002705High, narrow palate1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17892567300170
HP:0000218HP:0002705High, narrow palate1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM12148487601902
HP:0000218HP:0002705High, narrow palate1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM110618028610107
HP:0000218HP:0002705High, narrow palate1OTUD6B CL E G H51633505237ORPHA17024281612021
HP:0000218HP:0002705High, narrow palate1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM17024281612021
HP:0000218HP:0002705High, narrow palate1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0000218HP:0002705High, narrow palate1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0000218HP:0002705High, narrow palate1PDE6D CL E G H51472754ORPHA1718788602676
HP:0000218HP:0002705High, narrow palate1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0000218HP:0002705High, narrow palate1PEX1 CL E G H5189912ORPHA112058850602136
HP:0000218HP:0002705High, narrow palate1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0000218HP:0002705High, narrow palate1PEX10 CL E G H5192912ORPHA16548851602859
HP:0000218HP:0002705High, narrow palate1PEX11B CL E G H8799912ORPHA13508853603867
HP:0000218HP:0002705High, narrow palate1PEX12 CL E G H5193912ORPHA13608854601758
HP:0000218HP:0002705High, narrow palate1PEX13 CL E G H5194912ORPHA13978855601789
HP:0000218HP:0002705High, narrow palate1PEX14 CL E G H5195912ORPHA13748856601791
HP:0000218HP:0002705High, narrow palate1PEX16 CL E G H9409912ORPHA13468857603360
HP:0000218HP:0002705High, narrow palate1PEX19 CL E G H5824912ORPHA13049713600279
HP:0000218HP:0002705High, narrow palate1PEX2 CL E G H5828912ORPHA13669717170993
HP:0000218HP:0002705High, narrow palate1PEX26 CL E G H55670912ORPHA143122965608666
HP:0000218HP:0002705High, narrow palate1PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM143122965608666
HP:0000218HP:0002705High, narrow palate1PEX3 CL E G H8504912ORPHA12718858603164
HP:0000218HP:0002705High, narrow palate1PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0000218HP:0002705High, narrow palate1PEX5 CL E G H5830912ORPHA16899719600414
HP:0000218HP:0002705High, narrow palate1PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM16899719600414
HP:0000218HP:0002705High, narrow palate1PEX6 CL E G H5190912ORPHA110858859601498
HP:0000218HP:0002705High, narrow palate1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM12658907172100
HP:0000218HP:0002705High, narrow palate1PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM124915673612870
HP:0000218HP:0002705High, narrow palate1PIEZO2 CL E G H63895376ORPHA175526270613629
HP:0000218HP:0002705High, narrow palate1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM175526270613629
HP:0000218HP:0002705High, narrow palate1PIEZO2 CL E G H63895114300Gordon's syndrome114300