Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
..Starting node
..expand
Clinodactyly (HP:0030084)help
Term ID: 30084
Name: Clinodactyly
Synonym: Curvature of digit; Permanent curving of the finger
Definition: An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Comments:
Reference: HP:0030084
Genes and Diseases:
 
       Child Nodes:
........expandToe clinodactyly (HP:0001863) help
................... HP:0001864 Clinodactyly of the 5th toe
................... HP:0005824 Clinodactyly of the 2nd toe
................... HP:0008115 Clinodactyly of the 3rd toe
................... HP:0011918 Clinodactyly of the 4th toe
................... HP:0040018 Clinodactyly of hallux
........expandFinger clinodactyly (HP:0040019) help
................... HP:0004209 Clinodactyly of the 5th finger
................... HP:0040022 Clinodactyly of the 2nd finger
................... HP:0040023 Clinodactyly of the thumb
................... HP:0040024 Clinodactyly of the 3rd finger
................... HP:0040025 Clinodactyly of the 4th finger

 Sister Nodes: 
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of toe (HP:0001780) help
..expandBroad phalanx (HP:0006009) help
..expandClubbing (HP:0001217) help
..expandMacrodactyly (HP:0004099) help
..expandOligodactyly (HP:0012165) help
..expandPolydactyly (HP:0010442) help
..expandShort digit (HP:0011927) help
..expandSyndactyly (HP:0001159) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030084HP:0030084Clinodactyly0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0030084HP:0030084Clinodactyly0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0030084HP:0030084Clinodactyly0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0030084HP:0030084Clinodactyly0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0030084HP:0030084Clinodactyly0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0030084HP:0030084Clinodactyly0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0030084HP:0030084Clinodactyly0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0030084HP:0030084Clinodactyly0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0030084HP:0030084Clinodactyly0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0030084HP:0030084Clinodactyly0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0030084HP:0030084Clinodactyly0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0030084HP:0030084Clinodactyly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0030084HP:0030084Clinodactyly0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0030084HP:0030084Clinodactyly0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0030084HP:0030084Clinodactyly0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0030084HP:0030084Clinodactyly0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0030084HP:0030084Clinodactyly0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0030084HP:0030084Clinodactyly0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0030084HP:0030084Clinodactyly0CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0030084HP:0030084Clinodactyly0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM142517412607672
HP:0030084HP:0030084Clinodactyly0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0030084HP:0030084Clinodactyly0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0030084HP:0030084Clinodactyly0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0030084HP:0030084Clinodactyly0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0030084HP:0030084Clinodactyly0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0030084HP:0030084Clinodactyly0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0030084HP:0030084Clinodactyly0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0030084HP:0030084Clinodactyly0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0030084HP:0030084Clinodactyly0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0030084HP:0030084Clinodactyly0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0030084HP:0030084Clinodactyly0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0030084HP:0030084Clinodactyly0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0030084HP:0030084Clinodactyly0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0030084HP:0030084Clinodactyly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0030084HP:0030084Clinodactyly0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0030084HP:0030084Clinodactyly0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0030084HP:0030084Clinodactyly0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0030084HP:0030084Clinodactyly0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0030084HP:0030084Clinodactyly0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0030084HP:0030084Clinodactyly0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0030084HP:0030084Clinodactyly0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0030084HP:0030084Clinodactyly0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0030084HP:0030084Clinodactyly0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0030084HP:0030084Clinodactyly0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0030084HP:0030084Clinodactyly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0030084HP:0030084Clinodactyly0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0030084HP:0030084Clinodactyly0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0030084HP:0030084Clinodactyly0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0030084HP:0030084Clinodactyly0LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0030084HP:0030084Clinodactyly0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0030084HP:0030084Clinodactyly0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0030084HP:0030084Clinodactyly0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0030084HP:0030084Clinodactyly0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0030084HP:0030084Clinodactyly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0030084HP:0030084Clinodactyly0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0030084HP:0030084Clinodactyly0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0030084HP:0030084Clinodactyly0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0030084HP:0030084Clinodactyly0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0030084HP:0030084Clinodactyly0NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0030084HP:0030084Clinodactyly0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0030084HP:0030084Clinodactyly0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0030084HP:0030084Clinodactyly0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0030084HP:0030084Clinodactyly0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0030084HP:0030084Clinodactyly0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0030084HP:0030084Clinodactyly0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0030084HP:0030084Clinodactyly0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0030084HP:0030084Clinodactyly0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0030084HP:0030084Clinodactyly0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0030084HP:0030084Clinodactyly0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0030084HP:0030084Clinodactyly0POMP CL E G H51371618048PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2618048CN252342OMIM143720330613386
HP:0030084HP:0030084Clinodactyly0POR CL E G H544795699ORPHA1922259208124015
HP:0030084HP:0030084Clinodactyly0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0030084HP:0030084Clinodactyly0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0030084HP:0030084Clinodactyly0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0030084HP:0030084Clinodactyly0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0030084HP:0030084Clinodactyly0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0030084HP:0030084Clinodactyly0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0030084HP:0030084Clinodactyly0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0030084HP:0030084Clinodactyly0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0030084HP:0030084Clinodactyly0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0030084HP:0030084Clinodactyly0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0030084HP:0030084Clinodactyly0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0030084HP:0030084Clinodactyly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0030084HP:0030084Clinodactyly0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0030084HP:0030084Clinodactyly0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0030084HP:0030084Clinodactyly0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0030084HP:0030084Clinodactyly0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0030084HP:0030084Clinodactyly0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0030084HP:0030084Clinodactyly0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0030084HP:0030084Clinodactyly0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0030084HP:0030084Clinodactyly0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0030084HP:0030084Clinodactyly0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0030084HP:0030084Clinodactyly0SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134625356616086
HP:0030084HP:0030084Clinodactyly0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0030084HP:0030084Clinodactyly0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0030084HP:0030084Clinodactyly0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0030084HP:0030084Clinodactyly0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0030084HP:0030084Clinodactyly0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0030084HP:0030084Clinodactyly0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0030084HP:0030084Clinodactyly0TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0030084HP:0030084Clinodactyly0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0030084HP:0030084Clinodactyly0WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0030084HP:0030084Clinodactyly0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
HP:0030084HP:0030084Clinodactyly1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0030084HP:0030084Clinodactyly1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0030084HP:0030084Clinodactyly1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0030084HP:0030084Clinodactyly1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0030084HP:0030084Clinodactyly1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0030084HP:0030084Clinodactyly1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0030084HP:0030084Clinodactyly1BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0030084HP:0030084Clinodactyly1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0030084HP:0030084Clinodactyly1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0030084HP:0030084Clinodactyly1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0030084HP:0030084Clinodactyly1CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0030084HP:0030084Clinodactyly1CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0030084HP:0030084Clinodactyly1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0030084HP:0030084Clinodactyly1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0030084HP:0030084Clinodactyly1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0030084HP:0030084Clinodactyly1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0030084HP:0030084Clinodactyly1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0030084HP:0030084Clinodactyly1CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0030084HP:0030084Clinodactyly1CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0030084HP:0030084Clinodactyly1CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM142517412607672
HP:0030084HP:0030084Clinodactyly1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0030084HP:0030084Clinodactyly1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0030084HP:0030084Clinodactyly1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0030084HP:0030084Clinodactyly1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0030084HP:0030084Clinodactyly1DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0030084HP:0030084Clinodactyly1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0030084HP:0030084Clinodactyly1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0030084HP:0030084Clinodactyly1DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0030084HP:0030084Clinodactyly1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly1ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0030084HP:0030084Clinodactyly1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0030084HP:0030084Clinodactyly1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0030084HP:0030084Clinodactyly1FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0030084HP:0030084Clinodactyly1FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0030084HP:0030084Clinodactyly1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0030084HP:0030084Clinodactyly1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0030084HP:0030084Clinodactyly1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0030084HP:0030084Clinodactyly1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0030084HP:0030084Clinodactyly1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0030084HP:0030084Clinodactyly1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0030084HP:0030084Clinodactyly1IGF1R CL E G H348073273ORPHA1796225465147370
HP:0030084HP:0030084Clinodactyly1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0030084HP:0030084Clinodactyly1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0030084HP:0030084Clinodactyly1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0030084HP:0030084Clinodactyly1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0030084HP:0030084Clinodactyly1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0030084HP:0030084Clinodactyly1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0030084HP:0030084Clinodactyly1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0030084HP:0030084Clinodactyly1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0030084HP:0030084Clinodactyly1KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0030084HP:0030084Clinodactyly1KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0030084HP:0030084Clinodactyly1LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0030084HP:0030084Clinodactyly1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0030084HP:0030084Clinodactyly1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly1MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0030084HP:0030084Clinodactyly1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0030084HP:0030084Clinodactyly1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0030084HP:0030084Clinodactyly1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0030084HP:0030084Clinodactyly1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0030084HP:0030084Clinodactyly1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0030084HP:0030084Clinodactyly1NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0030084HP:0030084Clinodactyly1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0030084HP:0030084Clinodactyly1NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0030084HP:0030084Clinodactyly1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0030084HP:0030084Clinodactyly1NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0030084HP:0030084Clinodactyly1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0030084HP:0030084Clinodactyly1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0030084HP:0030084Clinodactyly1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0030084HP:0030084Clinodactyly1PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0030084HP:0030084Clinodactyly1PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0030084HP:0030084Clinodactyly1PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0030084HP:0030084Clinodactyly1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0030084HP:0030084Clinodactyly1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0030084HP:0030084Clinodactyly1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0030084HP:0030084Clinodactyly1POMP CL E G H51371618048PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2618048CN252342OMIM143720330613386
HP:0030084HP:0030084Clinodactyly1POR CL E G H544795699ORPHA1922259208124015
HP:0030084HP:0030084Clinodactyly1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0030084HP:0030084Clinodactyly1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0030084HP:0030084Clinodactyly1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0030084HP:0030084Clinodactyly1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0030084HP:0030084Clinodactyly1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0030084HP:0030084Clinodactyly1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0030084HP:0030084Clinodactyly1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0030084HP:0030084Clinodactyly1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0030084HP:0030084Clinodactyly1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0030084HP:0030084Clinodactyly1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0030084HP:0030084Clinodactyly1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0030084HP:0030084Clinodactyly1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0030084HP:0030084Clinodactyly1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0030084HP:0030084Clinodactyly1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0030084HP:0030084Clinodactyly1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0030084HP:0030084Clinodactyly1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0030084HP:0030084Clinodactyly1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0030084HP:0030084Clinodactyly1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0030084HP:0030084Clinodactyly1SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0030084HP:0030084Clinodactyly1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0030084HP:0030084Clinodactyly1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0030084HP:0030084Clinodactyly1SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134625356616086
HP:0030084HP:0030084Clinodactyly1SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0030084HP:0030084Clinodactyly1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0030084HP:0030084Clinodactyly1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0030084HP:0030084Clinodactyly1TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0030084HP:0030084Clinodactyly1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0030084HP:0030084Clinodactyly1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0030084HP:0030084Clinodactyly1TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0030084HP:0030084Clinodactyly1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0030084HP:0030084Clinodactyly1WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0030084HP:0030084Clinodactyly1ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
HP:0030084HP:0030084Clinodactyly2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0030084HP:0030084Clinodactyly2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0030084HP:0030084Clinodactyly2ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0030084HP:0030084Clinodactyly2ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0030084HP:0030084Clinodactyly2ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0030084HP:0030084Clinodactyly2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly2BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0030084HP:0030084Clinodactyly2BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0030084HP:0030084Clinodactyly2BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0030084HP:0030084Clinodactyly2BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0030084HP:0030084Clinodactyly2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0030084HP:0030084Clinodactyly2CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0030084HP:0030084Clinodactyly2CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0030084HP:0030084Clinodactyly2CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0030084HP:0030084Clinodactyly2CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0030084HP:0030084Clinodactyly2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0030084HP:0030084Clinodactyly2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0030084HP:0030084Clinodactyly2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0030084HP:0030084Clinodactyly2CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0030084HP:0030084Clinodactyly2CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0030084HP:0030084Clinodactyly2CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM142517412607672
HP:0030084HP:0030084Clinodactyly2COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0030084HP:0030084Clinodactyly2CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0030084HP:0030084Clinodactyly2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0030084HP:0030084Clinodactyly2DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0030084HP:0030084Clinodactyly2DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0030084HP:0030084Clinodactyly2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0030084HP:0030084Clinodactyly2DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly2DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly2DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0030084HP:0030084Clinodactyly2DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0030084HP:0030084Clinodactyly2ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly2ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0030084HP:0030084Clinodactyly2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0030084HP:0030084Clinodactyly2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0030084HP:0030084Clinodactyly2FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0030084HP:0030084Clinodactyly2FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0030084HP:0030084Clinodactyly2G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0030084HP:0030084Clinodactyly2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0030084HP:0030084Clinodactyly2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0030084HP:0030084Clinodactyly2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0030084HP:0030084Clinodactyly2IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0030084HP:0030084Clinodactyly2IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0030084HP:0030084Clinodactyly2IGF1R CL E G H348073273ORPHA1796225465147370
HP:0030084HP:0030084Clinodactyly2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0030084HP:0030084Clinodactyly2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0030084HP:0030084Clinodactyly2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0030084HP:0030084Clinodactyly2IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0030084HP:0030084Clinodactyly2ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0030084HP:0030084Clinodactyly2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0030084HP:0030084Clinodactyly2KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0030084HP:0030084Clinodactyly2KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0030084HP:0030084Clinodactyly2KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0030084HP:0030084Clinodactyly2KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0030084HP:0030084Clinodactyly2LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0030084HP:0030084Clinodactyly2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly2MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly2MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0030084HP:0030084Clinodactyly2MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly2MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly2MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0030084HP:0030084Clinodactyly2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0030084HP:0030084Clinodactyly2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0030084HP:0030084Clinodactyly2MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0030084HP:0030084Clinodactyly2NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0030084HP:0030084Clinodactyly2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0030084HP:0030084Clinodactyly2NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0030084HP:0030084Clinodactyly2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0030084HP:0030084Clinodactyly2NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0030084HP:0030084Clinodactyly2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0030084HP:0030084Clinodactyly2NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0030084HP:0030084Clinodactyly2NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0030084HP:0030084Clinodactyly2OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly2PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0030084HP:0030084Clinodactyly2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0030084HP:0030084Clinodactyly2PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0030084HP:0030084Clinodactyly2PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0030084HP:0030084Clinodactyly2PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0030084HP:0030084Clinodactyly2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0030084HP:0030084Clinodactyly2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0030084HP:0030084Clinodactyly2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0030084HP:0030084Clinodactyly2POMP CL E G H51371618048PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2618048CN252342OMIM143720330613386
HP:0030084HP:0030084Clinodactyly2POR CL E G H544795699ORPHA1922259208124015
HP:0030084HP:0030084Clinodactyly2PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0030084HP:0030084Clinodactyly2PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0030084HP:0030084Clinodactyly2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0030084HP:0030084Clinodactyly2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0030084HP:0030084Clinodactyly2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0030084HP:0030084Clinodactyly2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0030084HP:0030084Clinodactyly2RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0030084HP:0030084Clinodactyly2ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0030084HP:0030084Clinodactyly2RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0030084HP:0030084Clinodactyly2SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0030084HP:0030084Clinodactyly2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0030084HP:0030084Clinodactyly2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0030084HP:0030084Clinodactyly2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0030084HP:0030084Clinodactyly2SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0030084HP:0030084Clinodactyly2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0030084HP:0030084Clinodactyly2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0030084HP:0030084Clinodactyly2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0030084HP:0030084Clinodactyly2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0030084HP:0030084Clinodactyly2SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0030084HP:0030084Clinodactyly2SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0030084HP:0030084Clinodactyly2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0030084HP:0030084Clinodactyly2SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134625356616086
HP:0030084HP:0030084Clinodactyly2SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0030084HP:0030084Clinodactyly2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0030084HP:0030084Clinodactyly2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0030084HP:0030084Clinodactyly2TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0030084HP:0030084Clinodactyly2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0030084HP:0030084Clinodactyly2TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0030084HP:0030084Clinodactyly2TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly2TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly2WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0030084HP:0030084Clinodactyly2WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0030084HP:0030084Clinodactyly2WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0030084HP:0030084Clinodactyly2ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
HP:0030084HP:0030084Clinodactyly3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0030084HP:0030084Clinodactyly3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0030084HP:0030084Clinodactyly3ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0030084HP:0030084Clinodactyly3ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0030084HP:0030084Clinodactyly3ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0030084HP:0030084Clinodactyly3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly3ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0030084HP:0030084Clinodactyly3BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0030084HP:0030084Clinodactyly3BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0030084HP:0030084Clinodactyly3BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0030084HP:0030084Clinodactyly3BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0030084HP:0030084Clinodactyly3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0030084HP:0030084Clinodactyly3CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0030084HP:0030084Clinodactyly3CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0030084HP:0030084Clinodactyly3CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0030084HP:0030084Clinodactyly3CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0030084HP:0030084Clinodactyly3CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0030084HP:0030084Clinodactyly3CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0030084HP:0030084Clinodactyly3CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0030084HP:0030084Clinodactyly3CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0030084HP:0030084Clinodactyly3CHSY1 CL E G H22856605282Temtamy preaxial brachydactyly syndrome605282C1854466OMIM11615517198608183
HP:0030084HP:0030084Clinodactyly3CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM142517412607672
HP:0030084HP:0030084Clinodactyly3COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0030084HP:0030084Clinodactyly3CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0030084HP:0030084Clinodactyly3CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0030084HP:0030084Clinodactyly3DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0030084HP:0030084Clinodactyly3DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0030084HP:0030084Clinodactyly3DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0030084HP:0030084Clinodactyly3DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly3DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0030084HP:0030084Clinodactyly3DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0030084HP:0030084Clinodactyly3DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0030084HP:0030084Clinodactyly3ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly3ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0030084HP:0030084Clinodactyly3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0030084HP:0030084Clinodactyly3FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0030084HP:0030084Clinodactyly3FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0030084HP:0030084Clinodactyly3FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0030084HP:0030084Clinodactyly3FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0030084HP:0030084Clinodactyly3G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0030084HP:0030084Clinodactyly3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0030084HP:0030084Clinodactyly3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0030084HP:0030084Clinodactyly3HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0030084HP:0030084Clinodactyly3IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0030084HP:0030084Clinodactyly3IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0030084HP:0030084Clinodactyly3IGF1R CL E G H348073273ORPHA1796225465147370
HP:0030084HP:0030084Clinodactyly3IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0030084HP:0030084Clinodactyly3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0030084HP:0030084Clinodactyly3IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0030084HP:0030084Clinodactyly3IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0030084HP:0030084Clinodactyly3ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0030084HP:0030084Clinodactyly3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0030084HP:0030084Clinodactyly3KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0030084HP:0030084Clinodactyly3KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0030084HP:0030084Clinodactyly3KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0030084HP:0030084Clinodactyly3KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0030084HP:0030084Clinodactyly3LMNA CL E G H4000610140Heart-hand syndrome, Slovenian type610140C1857829OMIM157411526636150330
HP:0030084HP:0030084Clinodactyly3MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly3MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0030084HP:0030084Clinodactyly3MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0030084HP:0030084Clinodactyly3MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly3MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0030084HP:0030084Clinodactyly3MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0030084HP:0030084Clinodactyly3MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0030084HP:0030084Clinodactyly3MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0030084HP:0030084Clinodactyly3MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0030084HP:0030084Clinodactyly3NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0030084HP:0030084Clinodactyly3NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0030084HP:0030084Clinodactyly3NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0030084HP:0030084Clinodactyly3NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0030084HP:0030084Clinodactyly3NOG CL E G H9241186570Tarsal carpal coalition syndrome186570C1861305OMIM164477866602991
HP:0030084HP:0030084Clinodactyly3NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0030084HP:0030084Clinodactyly3NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM1910429843608137
HP:0030084HP:0030084Clinodactyly3NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0030084HP:0030084Clinodactyly3OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly3OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0030084HP:0030084Clinodactyly3PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0030084HP:0030084Clinodactyly3PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0030084HP:0030084Clinodactyly3PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0030084HP:0030084Clinodactyly3PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0030084HP:0030084Clinodactyly3PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0030084HP:0030084Clinodactyly3PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0030084HP:0030084Clinodactyly3PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0030084HP:0030084Clinodactyly3POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0030084HP:0030084Clinodactyly3POMP CL E G H51371618048PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2618048CN252342OMIM143720330613386
HP:0030084HP:0030084Clinodactyly3POR CL E G H544795699ORPHA1922259208124015
HP:0030084HP:0030084Clinodactyly3PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0030084HP:0030084Clinodactyly3PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0030084HP:0030084Clinodactyly3PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0030084HP:0030084Clinodactyly3PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0030084HP:0030084Clinodactyly3PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0030084HP:0030084Clinodactyly3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0030084HP:0030084Clinodactyly3RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0030084HP:0030084Clinodactyly3ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0030084HP:0030084Clinodactyly3RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0030084HP:0030084Clinodactyly3SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0030084HP:0030084Clinodactyly3SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0030084HP:0030084Clinodactyly3SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0030084HP:0030084Clinodactyly3SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0030084HP:0030084Clinodactyly3SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0030084HP:0030084Clinodactyly3SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0030084HP:0030084Clinodactyly3SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0030084HP:0030084Clinodactyly3SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0030084HP:0030084Clinodactyly3SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0030084HP:0030084Clinodactyly3SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0030084HP:0030084Clinodactyly3SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0030084HP:0030084Clinodactyly3SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0030084HP:0030084Clinodactyly3SPRTN CL E G H83932616200Ruijs-Aalfs syndrome616200C4015461OMIM134625356616086
HP:0030084HP:0030084Clinodactyly3SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0030084HP:0030084Clinodactyly3STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0030084HP:0030084Clinodactyly3TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0030084HP:0030084Clinodactyly3TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0030084HP:0030084Clinodactyly3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0030084HP:0030084Clinodactyly3TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0030084HP:0030084Clinodactyly3TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly3TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0030084HP:0030084Clinodactyly3WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0030084HP:0030084Clinodactyly3WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0030084HP:0030084Clinodactyly3WNT7A CL E G H7476228930Fuhrmann syndrome228930C1856728OMIM1115012786601570
HP:0030084HP:0030084Clinodactyly3ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030084HP:0030084Clinodactyly0ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0030084HP:0030084Clinodactyly0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM02653883688136350
HP:0030084HP:0030084Clinodactyly0IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0030084HP:0030084Clinodactyly0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0030084HP:0030084Clinodactyly0KDM5C CL E G H824285279ORPHA05632711114314690
HP:0030084HP:0030084Clinodactyly0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0030084HP:0030084Clinodactyly0PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0030084HP:0030084Clinodactyly0SPART CL E G H23111101000ORPHA0718318514607111
HP:0030084HP:0030084Clinodactyly0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363
HP:0030084HP:0030084Clinodactyly1ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0030084HP:0030084Clinodactyly1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM02653883688136350
HP:0030084HP:0030084Clinodactyly1IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0030084HP:0030084Clinodactyly1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0030084HP:0030084Clinodactyly1KDM5C CL E G H824285279ORPHA05632711114314690
HP:0030084HP:0030084Clinodactyly1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0030084HP:0030084Clinodactyly1PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0030084HP:0030084Clinodactyly1SPART CL E G H23111101000ORPHA0718318514607111
HP:0030084HP:0030084Clinodactyly1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363
HP:0030084HP:0030084Clinodactyly2ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0030084HP:0030084Clinodactyly2FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM02653883688136350
HP:0030084HP:0030084Clinodactyly2IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0030084HP:0030084Clinodactyly2INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0030084HP:0030084Clinodactyly2KDM5C CL E G H824285279ORPHA05632711114314690
HP:0030084HP:0030084Clinodactyly2PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0030084HP:0030084Clinodactyly2PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0030084HP:0030084Clinodactyly2SPART CL E G H23111101000ORPHA0718318514607111
HP:0030084HP:0030084Clinodactyly2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363
HP:0030084HP:0030084Clinodactyly3ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0030084HP:0030084Clinodactyly3FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM02653883688136350
HP:0030084HP:0030084Clinodactyly3IL11RA CL E G H3590614188Craniosynostosis and dental anomalies614188C3280073OMIM023895967600939
HP:0030084HP:0030084Clinodactyly3INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM0123229239610621
HP:0030084HP:0030084Clinodactyly3KDM5C CL E G H824285279ORPHA05632711114314690
HP:0030084HP:0030084Clinodactyly3PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA09809208582612349
HP:0030084HP:0030084Clinodactyly3PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM010528615167411
HP:0030084HP:0030084Clinodactyly3SPART CL E G H23111101000ORPHA0718318514607111
HP:0030084HP:0030084Clinodactyly3XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM0153712831194363


Genes (350) :A2ML1 ABCC8 ABL1 ACVR1 AKT1 ALG3 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 ARID1B ARID2 ATR ATRIP ATRX B3GLCT BAZ1B BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12ORF57 CACNA1G CANT1 CCDC22 CCDC8 CCNQ CD96 CDC42 CDC45 CDC6 CDH1 CDK10 CDK13 CDKL5 CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHSY1 CITED2 CKAP2L CLCF1 CLIP2 COL11A1 COLEC10 CPLANE1 CREBBP CRKL CSNK2A1 CUL4B CUL7 DACT1 DCHS1 DDX11 DEAF1 DLEC1 DLX3 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM EBP EFNB1 EIF4A3 ELN EMG1 EP300 ERCC4 ERMARD ESCO2 EVC EVC2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO11 FGD1 FGF10 FGFR1 FGFR2 FGFR3 FLI1 FLII FLNA FLNB FOXG1 FZD2 G6PC3 GABBR2 GABRD GATA4 GATA5 GATA6 GCK GDF1 GDF5 GJA1 GJA5 GMNN GPC3 GPC4 GTF2I GTF2IRD1 H19 HDAC4 HDAC8 HERC2 HIC1 HMGA2 HOXA11 HOXA13 HOXD13 IFT122 IFT43 IFT52 IGF1 IGF1R IGF2 IHH IL11RA INS INTU IPW IQSEC2 IRX5 ITCH JAG1 KAT6B KCNAB2 KCNJ11 KCNJ2 KDM1A KDM5C KIAA0753 KIAA1109 KIF1BP KIF7 KLF13 KMT2A KPTN KRAS L1CAM LEMD3 LIG4 LIMK1 LMBR1 LMNA LMX1B LZTR1 MAD2L2 MAGEL2 MAP2K1 MAP3K7 MAPK1 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MED13L MKRN3 MKRN3-AS1 MKS1 MLXIPL NAA10 NDN NEK1 NIN NIPBL NKX2-5 NKX2-6 NOG NPAP1 NPR2 NRAS NSMF NSUN2 NTNG1 NUP107 NXN OBSL1 OFD1 ORC1 ORC4 ORC6 PAFAH1B1 PAH PALB2 PAX1 PAX3 PCNT PDE6D PDX1 PHGDH PHIP PIEZO2 PIGH PIGL PIGN PIGS PIGY PIK3R1 PITX1 PLK4 PLXND1 PNPLA6 POC1A POMP POR PQBP1 PRDM16 PTEN PTH1R PTPN11 PUF60 PUM1 PWAR1 PWRN1 RAB11B RAB18 RAB23 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM10 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNF6 RNU4ATAC ROR2 RPL10 RRAS RUNX2 SALL1 SATB2 SEMA3E SETD5 SF3B4 SH3PXD2B SHANK3 SHH SHOX SIM1 SIN3A SKI SLC26A2 SLC29A3 SLC2A10 SLX4 SMAD4 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SOS1 SOS2 SOX11 SOX5 SPART SPECC1L SPRTN SRCAP SSR4 STAMBP STXBP1 TBC1D24 TBL2 TBX1 TBX15 TBX4 TBX5 TCF4 TCTN3 TFAP2A TFAP2B TGDS TGFBR2 TMEM216 TP63 TRAF7 TRAIP TRAPPC9 TRIO TRIP13 TRPS1 TRPV4 TWIST1 UBE2T UBE3A UBE3B UBR1 VPS13B WDR19 WDR35 WNT5A WNT7A WWOX XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZDHHC15 ZFPM2

Diseases (301) :606176 601110 136760 148050 617808 301040 309580 309800 617755 163950 617883 618087 300963 211750 616737 613805 119580 617694 617360 614114 605282 610313 248340 277170 617062 601390 613398 618027 180700 616331 616894 75857 268300 269000 277590 615546 618089 305400 147950 602849 612541 164200 176270 218330 608747 73273 270450 614188 617926 611174 613385 85279 617822 609460 166024 607131 610140 615547 305450 300895 616789 249000 614851 186500 186570 614838 616730 311200 300209 2209 615560 148820 256520 617991 108145 616809 269880 614813 618048 95699 615583 617931 617807 311900 268310 300998 154400 613406 602782 139210 300590 616354 615866 616803 101000 275900 616200 300934 614261 610954 258860 618164 617061 113500 181405 613610 228930 616541 300577 617602 306542 391474 2332 272440 2754 857 3352 609638 2308 300244 616489 79474 617137 1596 2751 615923 251019 94065 142900 2896 615777 602531 648 79134 337 135100 744 300373 300990 251056 808 210600 847 709 261540 904 568 2712 261330 157801 609432 210900 93396 617877 112600 607932 93384 93388 616849 115150 618056 84 1052 1777 1425 2616 140952 300707 1308 2554 3095 613823 236500 138 199318 612001 3303 3255 228520 180849 85293 273750 819 99977 617604 86309 608093 3107 223800 35173 1520 304110 268305 194050 1270 211180 3103 952 193530 915 149730 794 101400 272460 1606 187500 3250 113100 2710 373 180860 1001 199 300882 531 94063 71289 605432 2438 140000 93406 186000 1515 73272 112500 3047 170390 616728 200990 319182 605130 615637 2466 235 99812 3332 161200 257920 228402 778 122470 1507 2750 224690 217385 2637 210720 376 618010 280000 2059 618143 1275 570 1173 309500 156400 508488 614222 201000 1587 606744 3320 274000 2636 616651 1452 107480 137834 48652 606232 240 171829 93307 3342 610759 1106 1393 117650 1519 2044 136140 79500 260660 261279 113620 46627 169100 616145 1388 1071 69085 352530 77258 2635 238446 244450 243800 193 3454 257850
 

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