Human Phenotype Ontology 
Grandparent Node:
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030084HP:0030084Clinodactyly0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0030084HP:0030084Clinodactyly0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0030084HP:0030084Clinodactyly0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0030084HP:0030084Clinodactyly0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0030084HP:0030084Clinodactyly0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0030084HP:0030084Clinodactyly0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0030084HP:0030084Clinodactyly0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0030084HP:0030084Clinodactyly0ALDH1A2 CL E G H885415472OMIM:620025
HP:0030084HP:0030084Clinodactyly0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0030084HP:0030084Clinodactyly0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0030084HP:0030084Clinodactyly0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0030084HP:0030084Clinodactyly0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0030084HP:0030084Clinodactyly0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0030084HP:0030084Clinodactyly0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0030084HP:0030084Clinodactyly0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0030084HP:0030084Clinodactyly0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0030084HP:0030084Clinodactyly0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0030084HP:0030084Clinodactyly0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0030084HP:0030084Clinodactyly0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0030084HP:0030084Clinodactyly0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0030084HP:0030084Clinodactyly0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0030084HP:0030084Clinodactyly0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0030084HP:0030084Clinodactyly0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0030084HP:0030084Clinodactyly0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0030084HP:0030084Clinodactyly0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0030084HP:0030084Clinodactyly0ATP2B1 CL E G H490814OMIM:619910
HP:0030084HP:0030084Clinodactyly0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0030084HP:0030084Clinodactyly0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0030084HP:0030084Clinodactyly0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0030084HP:0030084Clinodactyly0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0030084HP:0030084Clinodactyly0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0030084HP:0030084Clinodactyly0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0030084HP:0030084Clinodactyly0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0030084HP:0030084Clinodactyly0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0030084HP:0030084Clinodactyly0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0030084HP:0030084Clinodactyly0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0030084HP:0030084Clinodactyly0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0030084HP:0030084Clinodactyly0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0030084HP:0030084Clinodactyly0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0030084HP:0030084Clinodactyly0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0030084HP:0030084Clinodactyly0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0030084HP:0030084Clinodactyly0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0030084HP:0030084Clinodactyly0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0030084HP:0030084Clinodactyly0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0030084HP:0030084Clinodactyly0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0030084HP:0030084Clinodactyly0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0030084HP:0030084Clinodactyly0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0030084HP:0030084Clinodactyly0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0030084HP:0030084Clinodactyly0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0030084HP:0030084Clinodactyly0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0030084HP:0030084Clinodactyly0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0030084HP:0030084Clinodactyly0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0030084HP:0030084Clinodactyly0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0030084HP:0030084Clinodactyly0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0030084HP:0030084Clinodactyly0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0030084HP:0030084Clinodactyly0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0030084HP:0030084Clinodactyly0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0030084HP:0030084Clinodactyly0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0030084HP:0030084Clinodactyly0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0030084HP:0030084Clinodactyly0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0030084HP:0030084Clinodactyly0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0030084HP:0030084Clinodactyly0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0030084HP:0030084Clinodactyly0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0030084HP:0030084Clinodactyly0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0030084HP:0030084Clinodactyly0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0030084HP:0030084Clinodactyly0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0030084HP:0030084Clinodactyly0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0030084HP:0030084Clinodactyly0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0030084HP:0030084Clinodactyly0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0030084HP:0030084Clinodactyly0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0030084HP:0030084Clinodactyly0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0030084HP:0030084Clinodactyly0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0030084HP:0030084Clinodactyly0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0030084HP:0030084Clinodactyly0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0030084HP:0030084Clinodactyly0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0030084HP:0030084Clinodactyly0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0030084HP:0030084Clinodactyly0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0030084HP:0030084Clinodactyly0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0030084HP:0030084Clinodactyly0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0030084HP:0030084Clinodactyly0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0030084HP:0030084Clinodactyly0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0030084HP:0030084Clinodactyly0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0030084HP:0030084Clinodactyly0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0030084HP:0030084Clinodactyly0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0030084HP:0030084Clinodactyly0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0030084HP:0030084Clinodactyly0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0030084HP:0030084Clinodactyly0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0030084HP:0030084Clinodactyly0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0030084HP:0030084Clinodactyly0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0030084HP:0030084Clinodactyly0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0030084HP:0030084Clinodactyly0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0030084HP:0030084Clinodactyly0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0030084HP:0030084Clinodactyly0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0030084HP:0030084Clinodactyly0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0030084HP:0030084Clinodactyly0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0030084HP:0030084Clinodactyly0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0030084HP:0030084Clinodactyly0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0030084HP:0030084Clinodactyly0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0030084HP:0030084Clinodactyly0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0030084HP:0030084Clinodactyly0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0030084HP:0030084Clinodactyly0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0030084HP:0030084Clinodactyly0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0030084HP:0030084Clinodactyly0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0030084HP:0030084Clinodactyly0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0030084HP:0030084Clinodactyly0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0030084HP:0030084Clinodactyly0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0030084HP:0030084Clinodactyly0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0030084HP:0030084Clinodactyly0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0030084HP:0030084Clinodactyly0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0030084HP:0030084Clinodactyly0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0030084HP:0030084Clinodactyly0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0030084HP:0030084Clinodactyly0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0030084HP:0030084Clinodactyly0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0030084HP:0030084Clinodactyly0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0030084HP:0030084Clinodactyly0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0030084HP:0030084Clinodactyly0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0030084HP:0030084Clinodactyly0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0030084HP:0030084Clinodactyly0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0030084HP:0030084Clinodactyly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0030084HP:0030084Clinodactyly0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0030084HP:0030084Clinodactyly0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0030084HP:0030084Clinodactyly0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0030084HP:0030084Clinodactyly0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0030084HP:0030084Clinodactyly0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0030084HP:0030084Clinodactyly0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0030084HP:0030084Clinodactyly0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0030084HP:0030084Clinodactyly0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0030084HP:0030084Clinodactyly0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0030084HP:0030084Clinodactyly0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0030084HP:0030084Clinodactyly0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0030084HP:0030084Clinodactyly0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0030084HP:0030084Clinodactyly0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0030084HP:0030084Clinodactyly0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0030084HP:0030084Clinodactyly0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0030084HP:0030084Clinodactyly0DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagus
HP:0030084HP:0030084Clinodactyly0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0030084HP:0030084Clinodactyly0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0030084HP:0030084Clinodactyly0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 1.3
HP:0030084HP:0030084Clinodactyly0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0030084HP:0030084Clinodactyly0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0030084HP:0030084Clinodactyly0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0030084HP:0030084Clinodactyly0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0030084HP:0030084Clinodactyly0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0030084HP:0030084Clinodactyly0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0030084HP:0030084Clinodactyly0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0030084HP:0030084Clinodactyly0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0030084HP:0030084Clinodactyly0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0030084HP:0030084Clinodactyly0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0030084HP:0030084Clinodactyly0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0030084HP:0030084Clinodactyly0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0030084HP:0030084Clinodactyly0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0030084HP:0030084Clinodactyly0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0030084HP:0030084Clinodactyly0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0030084HP:0030084Clinodactyly0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0030084HP:0030084Clinodactyly0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0030084HP:0030084Clinodactyly0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030084HP:0030084Clinodactyly0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0030084HP:0030084Clinodactyly0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0030084HP:0030084Clinodactyly0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0030084HP:0030084Clinodactyly0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0030084HP:0030084Clinodactyly0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0030084HP:0030084Clinodactyly0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0030084HP:0030084Clinodactyly0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0030084HP:0030084Clinodactyly0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0030084HP:0030084Clinodactyly0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0030084HP:0030084Clinodactyly0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0030084HP:0030084Clinodactyly0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0030084HP:0030084Clinodactyly0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0030084HP:0030084Clinodactyly0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0030084HP:0030084Clinodactyly0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0030084HP:0030084Clinodactyly0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0030084HP:0030084Clinodactyly0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0030084HP:0030084Clinodactyly0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0030084HP:0030084Clinodactyly0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0030084HP:0030084Clinodactyly0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0030084HP:0030084Clinodactyly0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0030084HP:0030084Clinodactyly0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0030084HP:0030084Clinodactyly0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0030084HP:0030084Clinodactyly0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0030084HP:0030084Clinodactyly0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0030084HP:0030084Clinodactyly0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0030084HP:0030084Clinodactyly0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0030084HP:0030084Clinodactyly0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0030084HP:0030084Clinodactyly0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0030084HP:0030084Clinodactyly0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0030084HP:0030084Clinodactyly0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0030084HP:0030084Clinodactyly0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0030084HP:0030084Clinodactyly0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0030084HP:0030084Clinodactyly0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0030084HP:0030084Clinodactyly0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmiaHP:0040283 - Occasional172
HP:0030084HP:0030084Clinodactyly0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0030084HP:0030084Clinodactyly0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0030084HP:0030084Clinodactyly0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0030084HP:0030084Clinodactyly0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0030084HP:0030084Clinodactyly0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0030084HP:0030084Clinodactyly0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0030084HP:0030084Clinodactyly0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0030084HP:0030084Clinodactyly0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0030084HP:0030084Clinodactyly0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0030084HP:0030084Clinodactyly0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0030084HP:0030084Clinodactyly0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0030084HP:0030084Clinodactyly0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant493
HP:0030084HP:0030084Clinodactyly0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia493
HP:0030084HP:0030084Clinodactyly0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0030084HP:0030084Clinodactyly0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0030084HP:0030084Clinodactyly0FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0030084HP:0030084Clinodactyly0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0030084HP:0030084Clinodactyly0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0030084HP:0030084Clinodactyly0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0030084HP:0030084Clinodactyly0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0030084HP:0030084Clinodactyly0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0030084HP:0030084Clinodactyly0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0030084HP:0030084Clinodactyly0GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0030084HP:0030084Clinodactyly0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0030084HP:0030084Clinodactyly0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0030084HP:0030084Clinodactyly0GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0030084HP:0030084Clinodactyly0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0030084HP:0030084Clinodactyly0GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangism52
HP:0030084HP:0030084Clinodactyly0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0030084HP:0030084Clinodactyly0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0030084HP:0030084Clinodactyly0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0030084HP:0030084Clinodactyly0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0030084HP:0030084Clinodactyly0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0030084HP:0030084Clinodactyly0GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0030084HP:0030084Clinodactyly0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0030084HP:0030084Clinodactyly0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0030084HP:0030084Clinodactyly0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030084HP:0030084Clinodactyly0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0030084HP:0030084Clinodactyly0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0030084HP:0030084Clinodactyly0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0030084HP:0030084Clinodactyly0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0030084HP:0030084Clinodactyly0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0030084HP:0030084Clinodactyly0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0030084HP:0030084Clinodactyly0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0030084HP:0030084Clinodactyly0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0030084HP:0030084Clinodactyly0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0030084HP:0030084Clinodactyly0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0030084HP:0030084Clinodactyly0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0030084HP:0030084Clinodactyly0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0030084HP:0030084Clinodactyly0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030084HP:0030084Clinodactyly0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0030084HP:0030084Clinodactyly0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0030084HP:0030084Clinodactyly0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0030084HP:0030084Clinodactyly0HEATR3 CL E G H5502726087OMIM:620072
HP:0030084HP:0030084Clinodactyly0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0030084HP:0030084Clinodactyly0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0030084HP:0030084Clinodactyly0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0030084HP:0030084Clinodactyly0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0030084HP:0030084Clinodactyly0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0030084HP:0030084Clinodactyly0HNRNPH1 CL E G H31875041OMIM:620083
HP:0030084HP:0030084Clinodactyly0HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0030084Clinodactyly0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0030084HP:0030084Clinodactyly0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0030084HP:0030084Clinodactyly0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0030084HP:0030084Clinodactyly0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0030084HP:0030084Clinodactyly0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0030084HP:0030084Clinodactyly0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0030084HP:0030084Clinodactyly0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0030084HP:0030084Clinodactyly0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0030084HP:0030084Clinodactyly0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0030084HP:0030084Clinodactyly0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0030084HP:0030084Clinodactyly0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030084HP:0030084Clinodactyly0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0030084HP:0030084Clinodactyly0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0030084HP:0030084Clinodactyly0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0030084HP:0030084Clinodactyly0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0030084HP:0030084Clinodactyly0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0030084HP:0030084Clinodactyly0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0030084HP:0030084Clinodactyly0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies9
HP:0030084HP:0030084Clinodactyly0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0030084HP:0030084Clinodactyly0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0030084HP:0030084Clinodactyly0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0030084HP:0030084Clinodactyly0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0030084HP:0030084Clinodactyly0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0030084HP:0030084Clinodactyly0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0030084HP:0030084Clinodactyly0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomaliesHP:0040283 - Occasional8
HP:0030084HP:0030084Clinodactyly0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0030084HP:0030084Clinodactyly0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0030084HP:0030084Clinodactyly0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0030084HP:0030084Clinodactyly0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0030084HP:0030084Clinodactyly0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0030084HP:0030084Clinodactyly0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0030084HP:0030084Clinodactyly0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0030084HP:0030084Clinodactyly0JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0030084HP:0030084Clinodactyly0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0030084HP:0030084Clinodactyly0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0030084HP:0030084Clinodactyly0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0030084HP:0030084Clinodactyly0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0030084HP:0030084Clinodactyly0KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0030084HP:0030084Clinodactyly0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0030084HP:0030084Clinodactyly0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0030084HP:0030084Clinodactyly0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0030084HP:0030084Clinodactyly0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0030084HP:0030084Clinodactyly0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0030084HP:0030084Clinodactyly0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0030084HP:0030084Clinodactyly0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0030084HP:0030084Clinodactyly0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0030084HP:0030084Clinodactyly0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0030084HP:0030084Clinodactyly0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0030084HP:0030084Clinodactyly0KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0030084HP:0030084Clinodactyly0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0030084HP:0030084Clinodactyly0KIF15 CL E G H5699217273OMIM:619981
HP:0030084HP:0030084Clinodactyly0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0030084HP:0030084Clinodactyly0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0030084HP:0030084Clinodactyly0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0030084HP:0030084Clinodactyly0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0030084HP:0030084Clinodactyly0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0030084HP:0030084Clinodactyly0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0030084HP:0030084Clinodactyly0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0030084HP:0030084Clinodactyly0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0030084HP:0030084Clinodactyly0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0030084HP:0030084Clinodactyly0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0030084HP:0030084Clinodactyly0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0030084HP:0030084Clinodactyly0L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0030084HP:0030084Clinodactyly0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0030084HP:0030084Clinodactyly0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0030084HP:0030084Clinodactyly0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0030084HP:0030084Clinodactyly0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0030084HP:0030084Clinodactyly0LMNA CL E G H40006636OMIM:610140Heart-hand syndrome, Slovenian type.645
HP:0030084HP:0030084Clinodactyly0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0030084HP:0030084Clinodactyly0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0030084HP:0030084Clinodactyly0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0030084HP:0030084Clinodactyly0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0030084HP:0030084Clinodactyly0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0030084HP:0030084Clinodactyly0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0030084HP:0030084Clinodactyly0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0030084HP:0030084Clinodactyly0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0030084HP:0030084Clinodactyly0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0030084HP:0030084Clinodactyly0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0030084HP:0030084Clinodactyly0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0030084HP:0030084Clinodactyly0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0030084HP:0030084Clinodactyly0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0030084HP:0030084Clinodactyly0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0030084HP:0030084Clinodactyly0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0030084HP:0030084Clinodactyly0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0030084HP:0030084Clinodactyly0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0030084HP:0030084Clinodactyly0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0030084HP:0030084Clinodactyly0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0030084HP:0030084Clinodactyly0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0030084HP:0030084Clinodactyly0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0030084HP:0030084Clinodactyly0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0030084HP:0030084Clinodactyly0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0030084HP:0030084Clinodactyly0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0030084HP:0030084Clinodactyly0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0030084HP:0030084Clinodactyly0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0030084HP:0030084Clinodactyly0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0030084HP:0030084Clinodactyly0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0030084HP:0030084Clinodactyly0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0030084HP:0030084Clinodactyly0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0030084HP:0030084Clinodactyly0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0030084HP:0030084Clinodactyly0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0030084HP:0030084Clinodactyly0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0030084HP:0030084Clinodactyly0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0030084HP:0030084Clinodactyly0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0030084HP:0030084Clinodactyly0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0030084HP:0030084Clinodactyly0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0030084HP:0030084Clinodactyly0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0030084HP:0030084Clinodactyly0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0030084HP:0030084Clinodactyly0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0030084HP:0030084Clinodactyly0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0030084HP:0030084Clinodactyly0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0030084HP:0030084Clinodactyly0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030084HP:0030084Clinodactyly0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0030084HP:0030084Clinodactyly0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0030084HP:0030084Clinodactyly0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0030084HP:0030084Clinodactyly0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0030084HP:0030084Clinodactyly0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030084HP:0030084Clinodactyly0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0030084HP:0030084Clinodactyly0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0030084HP:0030084Clinodactyly0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0030084HP:0030084Clinodactyly0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0030084HP:0030084Clinodactyly0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0030084HP:0030084Clinodactyly0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0030084HP:0030084Clinodactyly0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0030084HP:0030084Clinodactyly0NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0030084HP:0030084Clinodactyly0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0030084HP:0030084Clinodactyly0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0030084HP:0030084Clinodactyly0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0030084HP:0030084Clinodactyly0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0030084HP:0030084Clinodactyly0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0030084HP:0030084Clinodactyly0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0030084HP:0030084Clinodactyly0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0030084HP:0030084Clinodactyly0NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0030084HP:0030084Clinodactyly0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0030084HP:0030084Clinodactyly0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0030084HP:0030084Clinodactyly0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0030084HP:0030084Clinodactyly0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0030084HP:0030084Clinodactyly0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0030084HP:0030084Clinodactyly0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0030084HP:0030084Clinodactyly0NOG CL E G H92417866ORPHA:3250Proximal symphalangism22
HP:0030084HP:0030084Clinodactyly0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome.22
HP:0030084HP:0030084Clinodactyly0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0030084HP:0030084Clinodactyly0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0030084HP:0030084Clinodactyly0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type53
HP:0030084HP:0030084Clinodactyly0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0030084HP:0030084Clinodactyly0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0030084HP:0030084Clinodactyly0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0030084HP:0030084Clinodactyly0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0030084HP:0030084Clinodactyly0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0030084HP:0030084Clinodactyly0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0030084HP:0030084Clinodactyly0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0030084HP:0030084Clinodactyly0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0030084HP:0030084Clinodactyly0NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0030084HP:0030084Clinodactyly0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0030084HP:0030084Clinodactyly0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0030084HP:0030084Clinodactyly0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0030084HP:0030084Clinodactyly0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0030084HP:0030084Clinodactyly0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0030084HP:0030084Clinodactyly0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0030084HP:0030084Clinodactyly0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0030084HP:0030084Clinodactyly0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0030084HP:0030084Clinodactyly0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0030084HP:0030084Clinodactyly0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0030084HP:0030084Clinodactyly0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0030084HP:0030084Clinodactyly0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0030084HP:0030084Clinodactyly0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0030084HP:0030084Clinodactyly0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0030084HP:0030084Clinodactyly0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0030084HP:0030084Clinodactyly0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0030084HP:0030084Clinodactyly0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0030084HP:0030084Clinodactyly0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0030084HP:0030084Clinodactyly0PAICS CL E G H106068587OMIM:619859
HP:0030084HP:0030084Clinodactyly0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0030084HP:0030084Clinodactyly0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 2HP:0040283 - Occasional3
HP:0030084HP:0030084Clinodactyly0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0030084HP:0030084Clinodactyly0PCDHGC4 CL E G H560988717OMIM:619880
HP:0030084HP:0030084Clinodactyly0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0030084HP:0030084Clinodactyly0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0030084HP:0030084Clinodactyly0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0030084HP:0030084Clinodactyly0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0030084HP:0030084Clinodactyly0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0030084HP:0030084Clinodactyly0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0030084HP:0030084Clinodactyly0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0030084HP:0030084Clinodactyly0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0030084HP:0030084Clinodactyly0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0030084HP:0030084Clinodactyly0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0030084HP:0030084Clinodactyly0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0030084HP:0030084Clinodactyly0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0030084HP:0030084Clinodactyly0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0030084HP:0030084Clinodactyly0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0030084HP:0030084Clinodactyly0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0030084HP:0030084Clinodactyly0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0030084HP:0030084Clinodactyly0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0030084HP:0030084Clinodactyly0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0030084HP:0030084Clinodactyly0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0030084HP:0030084Clinodactyly0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0030084HP:0030084Clinodactyly0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0030084HP:0030084Clinodactyly0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0030084HP:0030084Clinodactyly0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 6.2
HP:0030084HP:0030084Clinodactyly0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0030084HP:0030084Clinodactyly0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0030084HP:0030084Clinodactyly0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0030084HP:0030084Clinodactyly0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0030084HP:0030084Clinodactyly0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0030084HP:0030084Clinodactyly0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0030084HP:0030084Clinodactyly0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0030084HP:0030084Clinodactyly0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0030084HP:0030084Clinodactyly0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0030084HP:0030084Clinodactyly0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0030084HP:0030084Clinodactyly0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0030084HP:0030084Clinodactyly0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0030084HP:0030084Clinodactyly0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0030084HP:0030084Clinodactyly0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0030084HP:0030084Clinodactyly0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0030084HP:0030084Clinodactyly0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0030084HP:0030084Clinodactyly0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0030084HP:0030084Clinodactyly0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0030084HP:0030084Clinodactyly0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0030084HP:0030084Clinodactyly0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0030084HP:0030084Clinodactyly0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0030084HP:0030084Clinodactyly0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0030084HP:0030084Clinodactyly0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0030084HP:0030084Clinodactyly0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0030084HP:0030084Clinodactyly0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0030084HP:0030084Clinodactyly0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0030084HP:0030084Clinodactyly0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0030084HP:0030084Clinodactyly0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0030084HP:0030084Clinodactyly0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0030084HP:0030084Clinodactyly0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0030084HP:0030084Clinodactyly0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0030084HP:0030084Clinodactyly0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0030084HP:0030084Clinodactyly0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0030084HP:0030084Clinodactyly0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0030084HP:0030084Clinodactyly0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0030084HP:0030084Clinodactyly0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0030084HP:0030084Clinodactyly0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0030084HP:0030084Clinodactyly0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030084HP:0030084Clinodactyly0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0030084HP:0030084Clinodactyly0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0030084HP:0030084Clinodactyly0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0030084HP:0030084Clinodactyly0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0030084HP:0030084Clinodactyly0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0030084HP:0030084Clinodactyly0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0030084HP:0030084Clinodactyly0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0030084HP:0030084Clinodactyly0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0030084HP:0030084Clinodactyly0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0030084HP:0030084Clinodactyly0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0030084HP:0030084Clinodactyly0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0030084HP:0030084Clinodactyly0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0030084HP:0030084Clinodactyly0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0030084HP:0030084Clinodactyly0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0030084HP:0030084Clinodactyly0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0030084HP:0030084Clinodactyly0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0030084HP:0030084Clinodactyly0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0030084HP:0030084Clinodactyly0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0030084HP:0030084Clinodactyly0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0030084HP:0030084Clinodactyly0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0030084HP:0030084Clinodactyly0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0030084HP:0030084Clinodactyly0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0030084HP:0030084Clinodactyly0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0030084HP:0030084Clinodactyly0RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagus3
HP:0030084HP:0030084Clinodactyly0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0030084HP:0030084Clinodactyly0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0030084HP:0030084Clinodactyly0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0030084HP:0030084Clinodactyly0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0030084HP:0030084Clinodactyly0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0030084HP:0030084Clinodactyly0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0030084HP:0030084Clinodactyly0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0030084HP:0030084Clinodactyly0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0030084HP:0030084Clinodactyly0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0030084HP:0030084Clinodactyly0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0030084HP:0030084Clinodactyly0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0030084HP:0030084Clinodactyly0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030084HP:0030084Clinodactyly0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0030084HP:0030084Clinodactyly0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0030084HP:0030084Clinodactyly0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0030084HP:0030084Clinodactyly0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0030084HP:0030084Clinodactyly0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0030084HP:0030084Clinodactyly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0030084HP:0030084Clinodactyly0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0030084HP:0030084Clinodactyly0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0030084HP:0030084Clinodactyly0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0030084HP:0030084Clinodactyly0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0030084HP:0030084Clinodactyly0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0030084HP:0030084Clinodactyly0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0030084HP:0030084Clinodactyly0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0030084HP:0030084Clinodactyly0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0030084HP:0030084Clinodactyly0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0030084HP:0030084Clinodactyly0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0030084HP:0030084Clinodactyly0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030084HP:0030084Clinodactyly0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0030084HP:0030084Clinodactyly0SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040283 - Occasional9
HP:0030084HP:0030084Clinodactyly0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0030084HP:0030084Clinodactyly0SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040283 - Occasional
HP:0030084HP:0030084Clinodactyly0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0030084HP:0030084Clinodactyly0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0030084HP:0030084Clinodactyly0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0030084HP:0030084Clinodactyly0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0030084HP:0030084Clinodactyly0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0030084HP:0030084Clinodactyly0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0030084HP:0030084Clinodactyly0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0030084HP:0030084Clinodactyly0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0030084HP:0030084Clinodactyly0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0030084HP:0030084Clinodactyly0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0030084HP:0030084Clinodactyly0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0030084HP:0030084Clinodactyly0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0030084HP:0030084Clinodactyly0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0030084HP:0030084Clinodactyly0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0030084HP:0030084Clinodactyly0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0030084HP:0030084Clinodactyly0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0030084HP:0030084Clinodactyly0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0030084HP:0030084Clinodactyly0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0030084HP:0030084Clinodactyly0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0030084HP:0030084Clinodactyly0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0030084HP:0030084Clinodactyly0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0030084HP:0030084Clinodactyly0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0030084HP:0030084Clinodactyly0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0030084HP:0030084Clinodactyly0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0030084HP:0030084Clinodactyly0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0030084HP:0030084Clinodactyly0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0030084HP:0030084Clinodactyly0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0030084HP:0030084Clinodactyly0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0030084HP:0030084Clinodactyly0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0030084HP:0030084Clinodactyly0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0030084HP:0030084Clinodactyly0SOX4 CL E G H665911200OMIM:618506Coffin-Siris syndrome 10.
HP:0030084HP:0030084Clinodactyly0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0030084HP:0030084Clinodactyly0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0030084HP:0030084Clinodactyly0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0030084HP:0030084Clinodactyly0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0030084HP:0030084Clinodactyly0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0030084HP:0030084Clinodactyly0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0030084HP:0030084Clinodactyly0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0030084HP:0030084Clinodactyly0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0030084HP:0030084Clinodactyly0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0030084HP:0030084Clinodactyly0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0030084HP:0030084Clinodactyly0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0030084HP:0030084Clinodactyly0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0030084HP:0030084Clinodactyly0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0030084HP:0030084Clinodactyly0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0030084HP:0030084Clinodactyly0SSR4 CL E G H674811326OMIM:300934Congenital disorder of glycosylation, type Iy.12
HP:0030084HP:0030084Clinodactyly0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0030084HP:0030084Clinodactyly0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0030084HP:0030084Clinodactyly0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0030084HP:0030084Clinodactyly0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0030084HP:0030084Clinodactyly0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0030084HP:0030084Clinodactyly0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0030084HP:0030084Clinodactyly0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0030084HP:0030084Clinodactyly0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0030084HP:0030084Clinodactyly0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0030084HP:0030084Clinodactyly0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0030084HP:0030084Clinodactyly0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0030084HP:0030084Clinodactyly0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0030084HP:0030084Clinodactyly0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0030084HP:0030084Clinodactyly0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0030084HP:0030084Clinodactyly0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0030084HP:0030084Clinodactyly0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0030084HP:0030084Clinodactyly0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0030084HP:0030084Clinodactyly0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0030084HP:0030084Clinodactyly0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0030084HP:0030084Clinodactyly0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0030084HP:0030084Clinodactyly0TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0030084HP:0030084Clinodactyly0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0030084HP:0030084Clinodactyly0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0030084HP:0030084Clinodactyly0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0030084HP:0030084Clinodactyly0TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagus253
HP:0030084HP:0030084Clinodactyly0TMEM147 CL E G H1043030414OMIM:620075
HP:0030084HP:0030084Clinodactyly0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0030084HP:0030084Clinodactyly0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0030084HP:0030084Clinodactyly0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0030084HP:0030084Clinodactyly0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0030084HP:0030084Clinodactyly0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0030084HP:0030084Clinodactyly0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0030084HP:0030084Clinodactyly0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0030084HP:0030084Clinodactyly0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0030084HP:0030084Clinodactyly0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0030084HP:0030084Clinodactyly0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0030084HP:0030084Clinodactyly0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0030084HP:0030084Clinodactyly0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0030084HP:0030084Clinodactyly0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0030084HP:0030084Clinodactyly0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0030084HP:0030084Clinodactyly0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0030084HP:0030084Clinodactyly0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0030084HP:0030084Clinodactyly0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0030084HP:0030084Clinodactyly0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0030084HP:0030084Clinodactyly0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0030084HP:0030084Clinodactyly0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0030084HP:0030084Clinodactyly0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0030084HP:0030084Clinodactyly0UBA2 CL E G H1005430661OMIM:619959
HP:0030084HP:0030084Clinodactyly0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0030084HP:0030084Clinodactyly0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0030084HP:0030084Clinodactyly0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0030084HP:0030084Clinodactyly0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0030084HP:0030084Clinodactyly0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0030084HP:0030084Clinodactyly0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0030084HP:0030084Clinodactyly0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0030084HP:0030084Clinodactyly0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0030084HP:0030084Clinodactyly0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0030084HP:0030084Clinodactyly0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0030084HP:0030084Clinodactyly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0030084HP:0030084Clinodactyly0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0030084HP:0030084Clinodactyly0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0030084HP:0030084Clinodactyly0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0030084HP:0030084Clinodactyly0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0030084HP:0030084Clinodactyly0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly.13
HP:0030084HP:0030084Clinodactyly0WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagus149
HP:0030084HP:0030084Clinodactyly0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0030084HP:0030084Clinodactyly0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0030084HP:0030084Clinodactyly0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunctionHP:0040283 - Occasional9
HP:0030084HP:0030084Clinodactyly0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0030084HP:0030084Clinodactyly0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0030084HP:0030084Clinodactyly0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0030084HP:0030084Clinodactyly0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0030084HP:0030084Clinodactyly0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0030084HP:0030084Clinodactyly0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0030084HP:0030084Clinodactyly0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0030084HP:0030084Clinodactyly0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0030084HP:0030084Clinodactyly0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0030084HP:0030084Clinodactyly0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0030084HP:0030084Clinodactyly0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0030084HP:0030084Clinodactyly0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0030084HP:0040019Finger clinodactyly1ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0030084HP:0040019Finger clinodactyly1ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0030084HP:0040019Finger clinodactyly1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0030084HP:0040019Finger clinodactyly1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0030084HP:0040019Finger clinodactyly1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0030084HP:0040019Finger clinodactyly1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0030084HP:0040019Finger clinodactyly1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0030084HP:0040019Finger clinodactyly1ALDH1A2 CL E G H885415472OMIM:620025
HP:0030084HP:0040019Finger clinodactyly1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0030084HP:0001863Toe clinodactyly1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0030084HP:0040019Finger clinodactyly1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0030084HP:0040019Finger clinodactyly1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0030084HP:0040019Finger clinodactyly1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0030084HP:0040019Finger clinodactyly1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0030084HP:0040019Finger clinodactyly1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0030084HP:0040019Finger clinodactyly1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0030084HP:0040019Finger clinodactyly1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0030084HP:0040019Finger clinodactyly1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0030084HP:0040019Finger clinodactyly1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0030084HP:0040019Finger clinodactyly1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0030084HP:0001863Toe clinodactyly1ATP2B1 CL E G H490814OMIM:619910
HP:0030084HP:0040019Finger clinodactyly1ATP2B1 CL E G H490814OMIM:619910
HP:0030084HP:0040019Finger clinodactyly1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0030084HP:0040019Finger clinodactyly1ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0030084HP:0040019Finger clinodactyly1ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0030084HP:0040019Finger clinodactyly1ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0030084HP:0040019Finger clinodactyly1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0030084HP:0040019Finger clinodactyly1AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0030084HP:0040019Finger clinodactyly1B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0030084HP:0040019Finger clinodactyly1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0030084HP:0040019Finger clinodactyly1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0030084HP:0040019Finger clinodactyly1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0030084HP:0040019Finger clinodactyly1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0030084HP:0040019Finger clinodactyly1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0030084HP:0040019Finger clinodactyly1BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0030084HP:0040019Finger clinodactyly1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0030084HP:0040019Finger clinodactyly1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0030084HP:0040019Finger clinodactyly1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0030084HP:0040019Finger clinodactyly1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0030084HP:0040019Finger clinodactyly1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0030084HP:0040019Finger clinodactyly1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0030084HP:0040019Finger clinodactyly1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0030084HP:0040019Finger clinodactyly1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0030084HP:0040019Finger clinodactyly1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0030084HP:0040019Finger clinodactyly1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0030084HP:0040019Finger clinodactyly1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0030084HP:0040019Finger clinodactyly1BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0030084HP:0040019Finger clinodactyly1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0030084HP:0040019Finger clinodactyly1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0030084HP:0040019Finger clinodactyly1BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0030084HP:0040019Finger clinodactyly1BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0030084HP:0040019Finger clinodactyly1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0030084HP:0040019Finger clinodactyly1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0030084HP:0040019Finger clinodactyly1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0030084HP:0040019Finger clinodactyly1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0030084HP:0040019Finger clinodactyly1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0030084HP:0040019Finger clinodactyly1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0030084HP:0040019Finger clinodactyly1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0030084HP:0040019Finger clinodactyly1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0030084HP:0040019Finger clinodactyly1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0030084HP:0040019Finger clinodactyly1CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0030084HP:0040019Finger clinodactyly1CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0030084HP:0040019Finger clinodactyly1CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0030084HP:0040019Finger clinodactyly1CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0030084HP:0040019Finger clinodactyly1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0030084HP:0040019Finger clinodactyly1CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0030084HP:0040019Finger clinodactyly1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0030084HP:0040019Finger clinodactyly1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0030084HP:0040019Finger clinodactyly1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0030084HP:0040019Finger clinodactyly1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0030084HP:0040019Finger clinodactyly1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0030084HP:0040019Finger clinodactyly1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0030084HP:0040019Finger clinodactyly1CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0030084HP:0040019Finger clinodactyly1CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0030084HP:0040019Finger clinodactyly1CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0030084HP:0040019Finger clinodactyly1CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0030084HP:0040019Finger clinodactyly1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0030084HP:0040019Finger clinodactyly1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0030084HP:0040019Finger clinodactyly1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0030084HP:0040019Finger clinodactyly1CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0030084HP:0040019Finger clinodactyly1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0030084HP:0040019Finger clinodactyly1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0030084HP:0040019Finger clinodactyly1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0030084HP:0040019Finger clinodactyly1CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0030084HP:0001863Toe clinodactyly1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0030084HP:0040019Finger clinodactyly1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0030084HP:0040019Finger clinodactyly1CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0030084HP:0040019Finger clinodactyly1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0030084HP:0040019Finger clinodactyly1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0030084HP:0040019Finger clinodactyly1CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0030084HP:0040019Finger clinodactyly1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0030084HP:0040019Finger clinodactyly1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0030084HP:0001863Toe clinodactyly1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0030084HP:0040019Finger clinodactyly1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0030084HP:0040019Finger clinodactyly1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0030084HP:0040019Finger clinodactyly1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0030084HP:0040019Finger clinodactyly1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0030084HP:0040019Finger clinodactyly1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0030084HP:0040019Finger clinodactyly1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0030084HP:0040019Finger clinodactyly1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0030084HP:0040019Finger clinodactyly1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0030084HP:0040019Finger clinodactyly1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0030084HP:0040019Finger clinodactyly1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0030084HP:0040019Finger clinodactyly1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0030084HP:0040019Finger clinodactyly1CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0030084HP:0040019Finger clinodactyly1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0030084HP:0001863Toe clinodactyly1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0030084HP:0040019Finger clinodactyly1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0030084HP:0040019Finger clinodactyly1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0030084HP:0001863Toe clinodactyly1DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagus
HP:0030084HP:0040019Finger clinodactyly1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0030084HP:0040019Finger clinodactyly1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040283 - Occasional48
HP:0030084HP:0040019Finger clinodactyly1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0030084HP:0040019Finger clinodactyly1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0030084HP:0040019Finger clinodactyly1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0030084HP:0040019Finger clinodactyly1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0030084HP:0040019Finger clinodactyly1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0030084HP:0040019Finger clinodactyly1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0030084HP:0040019Finger clinodactyly1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0030084HP:0040019Finger clinodactyly1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0030084HP:0040019Finger clinodactyly1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0030084HP:0040019Finger clinodactyly1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0030084HP:0040019Finger clinodactyly1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0030084HP:0040019Finger clinodactyly1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0030084HP:0040019Finger clinodactyly1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030084HP:0040019Finger clinodactyly1EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0030084HP:0040019Finger clinodactyly1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0030084HP:0040019Finger clinodactyly1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0030084HP:0040019Finger clinodactyly1EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0030084HP:0040019Finger clinodactyly1ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0030084HP:0040019Finger clinodactyly1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0030084HP:0040019Finger clinodactyly1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0030084HP:0040019Finger clinodactyly1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0030084HP:0040019Finger clinodactyly1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0030084HP:0040019Finger clinodactyly1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0030084HP:0040019Finger clinodactyly1EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0030084HP:0001863Toe clinodactyly1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0030084HP:0040019Finger clinodactyly1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0030084HP:0040019Finger clinodactyly1FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0030084HP:0040019Finger clinodactyly1FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0030084HP:0040019Finger clinodactyly1FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0030084HP:0040019Finger clinodactyly1FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0030084HP:0040019Finger clinodactyly1FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0030084HP:0040019Finger clinodactyly1FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0030084HP:0040019Finger clinodactyly1FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0030084HP:0040019Finger clinodactyly1FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0030084HP:0040019Finger clinodactyly1FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0030084HP:0040019Finger clinodactyly1FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0030084HP:0040019Finger clinodactyly1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0030084HP:0040019Finger clinodactyly1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0030084HP:0040019Finger clinodactyly1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0030084HP:0040019Finger clinodactyly1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0030084HP:0040019Finger clinodactyly1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0030084HP:0040019Finger clinodactyly1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0030084HP:0040019Finger clinodactyly1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0030084HP:0040019Finger clinodactyly1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0030084HP:0040019Finger clinodactyly1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0030084HP:0001863Toe clinodactyly1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0030084HP:0040019Finger clinodactyly1FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0030084HP:0001863Toe clinodactyly1FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0030084HP:0040019Finger clinodactyly1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0030084HP:0040019Finger clinodactyly1FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0030084HP:0040019Finger clinodactyly1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0030084HP:0040019Finger clinodactyly1GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0030084HP:0040019Finger clinodactyly1GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0030084HP:0040019Finger clinodactyly1GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0030084HP:0040019Finger clinodactyly1GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0030084HP:0040019Finger clinodactyly1GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0030084HP:0040019Finger clinodactyly1GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0030084HP:0040019Finger clinodactyly1GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040282 - Frequent52
HP:0030084HP:0040019Finger clinodactyly1GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0030084HP:0040019Finger clinodactyly1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0030084HP:0040019Finger clinodactyly1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0030084HP:0040019Finger clinodactyly1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0030084HP:0040019Finger clinodactyly1GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0030084HP:0040019Finger clinodactyly1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0030084HP:0040019Finger clinodactyly1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0030084HP:0040019Finger clinodactyly1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030084HP:0040019Finger clinodactyly1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0030084HP:0040019Finger clinodactyly1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0030084HP:0040019Finger clinodactyly1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0030084HP:0040019Finger clinodactyly1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0030084HP:0040019Finger clinodactyly1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0030084HP:0040019Finger clinodactyly1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0030084HP:0040019Finger clinodactyly1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0030084HP:0040019Finger clinodactyly1H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0030084HP:0040019Finger clinodactyly1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0030084HP:0040019Finger clinodactyly1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0030084HP:0040019Finger clinodactyly1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0030084HP:0040019Finger clinodactyly1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030084HP:0040019Finger clinodactyly1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0030084HP:0040019Finger clinodactyly1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0030084HP:0040019Finger clinodactyly1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0030084HP:0040019Finger clinodactyly1HEATR3 CL E G H5502726087OMIM:620072
HP:0030084HP:0001863Toe clinodactyly1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0030084HP:0040019Finger clinodactyly1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0030084HP:0040019Finger clinodactyly1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0030084HP:0040019Finger clinodactyly1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0030084HP:0040019Finger clinodactyly1HNRNPH1 CL E G H31875041OMIM:620083
HP:0030084HP:0001863Toe clinodactyly1HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0040019Finger clinodactyly1HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0040019Finger clinodactyly1HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0030084HP:0040019Finger clinodactyly1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0030084HP:0040019Finger clinodactyly1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0030084HP:0040019Finger clinodactyly1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0030084HP:0040019Finger clinodactyly1HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0030084HP:0040019Finger clinodactyly1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0030084HP:0040019Finger clinodactyly1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0030084HP:0040019Finger clinodactyly1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0030084HP:0040019Finger clinodactyly1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030084HP:0040019Finger clinodactyly1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0030084HP:0040019Finger clinodactyly1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0030084HP:0040019Finger clinodactyly1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0030084HP:0040019Finger clinodactyly1IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0030084HP:0040019Finger clinodactyly1IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0030084HP:0040019Finger clinodactyly1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0030084HP:0040019Finger clinodactyly1IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0030084HP:0040019Finger clinodactyly1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0030084HP:0040019Finger clinodactyly1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0030084HP:0040019Finger clinodactyly1IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0030084HP:0040019Finger clinodactyly1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0030084HP:0040019Finger clinodactyly1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0030084HP:0040019Finger clinodactyly1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0030084HP:0040019Finger clinodactyly1JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0030084HP:0040019Finger clinodactyly1JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0030084HP:0040019Finger clinodactyly1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0030084HP:0040019Finger clinodactyly1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0030084HP:0040019Finger clinodactyly1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0030084HP:0040019Finger clinodactyly1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0030084HP:0040019Finger clinodactyly1KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0030084HP:0001863Toe clinodactyly1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0030084HP:0040019Finger clinodactyly1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0030084HP:0001863Toe clinodactyly1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0030084HP:0001863Toe clinodactyly1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0030084HP:0040019Finger clinodactyly1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0030084HP:0040019Finger clinodactyly1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0030084HP:0040019Finger clinodactyly1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0030084HP:0040019Finger clinodactyly1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0030084HP:0040019Finger clinodactyly1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0030084HP:0040019Finger clinodactyly1KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0030084HP:0040019Finger clinodactyly1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0030084HP:0040019Finger clinodactyly1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0030084HP:0040019Finger clinodactyly1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0030084HP:0040019Finger clinodactyly1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0030084HP:0040019Finger clinodactyly1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0030084HP:0040019Finger clinodactyly1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0030084HP:0040019Finger clinodactyly1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0030084HP:0040019Finger clinodactyly1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0030084HP:0040019Finger clinodactyly1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0030084HP:0040019Finger clinodactyly1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0030084HP:0040019Finger clinodactyly1KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0030084HP:0040019Finger clinodactyly1L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0030084HP:0040019Finger clinodactyly1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0030084HP:0040019Finger clinodactyly1LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0030084HP:0040019Finger clinodactyly1LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0030084HP:0040019Finger clinodactyly1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040283 - Occasional645
HP:0030084HP:0040019Finger clinodactyly1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0030084HP:0040019Finger clinodactyly1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0030084HP:0040019Finger clinodactyly1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0030084HP:0040019Finger clinodactyly1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0030084HP:0040019Finger clinodactyly1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0030084HP:0040019Finger clinodactyly1LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0030084HP:0040019Finger clinodactyly1MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0030084HP:0040019Finger clinodactyly1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0030084HP:0040019Finger clinodactyly1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0030084HP:0040019Finger clinodactyly1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0030084HP:0040019Finger clinodactyly1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0030084HP:0040019Finger clinodactyly1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0030084HP:0040019Finger clinodactyly1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0030084HP:0040019Finger clinodactyly1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0030084HP:0040019Finger clinodactyly1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0030084HP:0040019Finger clinodactyly1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0030084HP:0040019Finger clinodactyly1MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0030084HP:0040019Finger clinodactyly1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0030084HP:0040019Finger clinodactyly1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0030084HP:0040019Finger clinodactyly1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0030084HP:0040019Finger clinodactyly1MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0030084HP:0040019Finger clinodactyly1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0030084HP:0040019Finger clinodactyly1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0030084HP:0040019Finger clinodactyly1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0030084HP:0040019Finger clinodactyly1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0030084HP:0040019Finger clinodactyly1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0030084HP:0040019Finger clinodactyly1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0030084HP:0040019Finger clinodactyly1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0030084HP:0040019Finger clinodactyly1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0030084HP:0040019Finger clinodactyly1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030084HP:0040019Finger clinodactyly1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0030084HP:0040019Finger clinodactyly1MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0030084HP:0040019Finger clinodactyly1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0030084HP:0040019Finger clinodactyly1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030084HP:0040019Finger clinodactyly1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0030084HP:0040019Finger clinodactyly1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0030084HP:0040019Finger clinodactyly1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0030084HP:0040019Finger clinodactyly1NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0030084HP:0040019Finger clinodactyly1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0030084HP:0040019Finger clinodactyly1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0030084HP:0040019Finger clinodactyly1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0030084HP:0040019Finger clinodactyly1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0030084HP:0040019Finger clinodactyly1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0030084HP:0040019Finger clinodactyly1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0030084HP:0040019Finger clinodactyly1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0030084HP:0040019Finger clinodactyly1NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0030084HP:0040019Finger clinodactyly1NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0030084HP:0040019Finger clinodactyly1NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0030084HP:0001863Toe clinodactyly1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0030084HP:0040019Finger clinodactyly1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0030084HP:0040019Finger clinodactyly1NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040282 - Frequent22
HP:0030084HP:0040019Finger clinodactyly1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0030084HP:0040019Finger clinodactyly1NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0030084HP:0040019Finger clinodactyly1NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0030084HP:0040019Finger clinodactyly1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0030084HP:0040019Finger clinodactyly1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0030084HP:0040019Finger clinodactyly1NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0030084HP:0040019Finger clinodactyly1NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0030084HP:0040019Finger clinodactyly1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0030084HP:0040019Finger clinodactyly1OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0030084HP:0040019Finger clinodactyly1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0030084HP:0040019Finger clinodactyly1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0030084HP:0040019Finger clinodactyly1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0030084HP:0040019Finger clinodactyly1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0030084HP:0040019Finger clinodactyly1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0030084HP:0040019Finger clinodactyly1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0030084HP:0040019Finger clinodactyly1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0030084HP:0040019Finger clinodactyly1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0030084HP:0040019Finger clinodactyly1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0030084HP:0040019Finger clinodactyly1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0030084HP:0040019Finger clinodactyly1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0030084HP:0040019Finger clinodactyly1PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0030084HP:0040019Finger clinodactyly1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0030084HP:0040019Finger clinodactyly1PAICS CL E G H106068587OMIM:619859
HP:0030084HP:0040019Finger clinodactyly1PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0030084HP:0040019Finger clinodactyly1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0030084HP:0040019Finger clinodactyly1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0030084HP:0040019Finger clinodactyly1PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0030084HP:0040019Finger clinodactyly1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0030084HP:0040019Finger clinodactyly1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0030084HP:0040019Finger clinodactyly1PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0030084HP:0040019Finger clinodactyly1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0030084HP:0040019Finger clinodactyly1PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0030084HP:0040019Finger clinodactyly1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0030084HP:0001863Toe clinodactyly1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0030084HP:0040019Finger clinodactyly1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0030084HP:0040019Finger clinodactyly1PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0030084HP:0040019Finger clinodactyly1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0030084HP:0040019Finger clinodactyly1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0030084HP:0040019Finger clinodactyly1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0030084HP:0040019Finger clinodactyly1PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0030084HP:0040019Finger clinodactyly1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0030084HP:0040019Finger clinodactyly1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0030084HP:0040019Finger clinodactyly1PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0030084HP:0040019Finger clinodactyly1PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0030084HP:0040019Finger clinodactyly1PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0030084HP:0040019Finger clinodactyly1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0030084HP:0040019Finger clinodactyly1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0030084HP:0040019Finger clinodactyly1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0030084HP:0040019Finger clinodactyly1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0030084HP:0040019Finger clinodactyly1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0030084HP:0040019Finger clinodactyly1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0030084HP:0040019Finger clinodactyly1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0030084HP:0040019Finger clinodactyly1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0030084HP:0040019Finger clinodactyly1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0030084HP:0040019Finger clinodactyly1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0030084HP:0040019Finger clinodactyly1PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0030084HP:0040019Finger clinodactyly1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0030084HP:0040019Finger clinodactyly1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0030084HP:0040019Finger clinodactyly1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0030084HP:0040019Finger clinodactyly1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0030084HP:0040019Finger clinodactyly1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0030084HP:0001863Toe clinodactyly1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030084HP:0040019Finger clinodactyly1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0030084HP:0040019Finger clinodactyly1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0030084HP:0040019Finger clinodactyly1RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0030084HP:0040019Finger clinodactyly1RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0030084HP:0040019Finger clinodactyly1RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0030084HP:0040019Finger clinodactyly1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0030084HP:0040019Finger clinodactyly1RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0030084HP:0040019Finger clinodactyly1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0030084HP:0040019Finger clinodactyly1RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0030084HP:0040019Finger clinodactyly1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0030084HP:0040019Finger clinodactyly1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0030084HP:0040019Finger clinodactyly1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0030084HP:0040019Finger clinodactyly1RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0030084HP:0040019Finger clinodactyly1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0030084HP:0040019Finger clinodactyly1REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0030084HP:0040019Finger clinodactyly1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0030084HP:0040019Finger clinodactyly1RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0030084HP:0040019Finger clinodactyly1RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0030084HP:0001863Toe clinodactyly1RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagus3
HP:0030084HP:0040019Finger clinodactyly1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0030084HP:0040019Finger clinodactyly1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0030084HP:0040019Finger clinodactyly1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0030084HP:0040019Finger clinodactyly1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0030084HP:0040019Finger clinodactyly1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0030084HP:0040019Finger clinodactyly1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0030084HP:0040019Finger clinodactyly1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0030084HP:0040019Finger clinodactyly1RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0030084HP:0040019Finger clinodactyly1RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0030084HP:0001863Toe clinodactyly1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040283 - Occasional2
HP:0030084HP:0040019Finger clinodactyly1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0030084HP:0040019Finger clinodactyly1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030084HP:0040019Finger clinodactyly1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0030084HP:0040019Finger clinodactyly1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0030084HP:0001863Toe clinodactyly1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0030084HP:0001863Toe clinodactyly1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0030084HP:0001863Toe clinodactyly1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0030084HP:0040019Finger clinodactyly1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0030084HP:0040019Finger clinodactyly1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0030084HP:0040019Finger clinodactyly1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0030084HP:0040019Finger clinodactyly1SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0030084HP:0040019Finger clinodactyly1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0030084HP:0040019Finger clinodactyly1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0030084HP:0040019Finger clinodactyly1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0030084HP:0040019Finger clinodactyly1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0030084HP:0040019Finger clinodactyly1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0030084HP:0040019Finger clinodactyly1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030084HP:0040019Finger clinodactyly1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0030084HP:0040019Finger clinodactyly1SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0030084HP:0040019Finger clinodactyly1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0030084HP:0040019Finger clinodactyly1SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0030084HP:0040019Finger clinodactyly1SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0030084HP:0040019Finger clinodactyly1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0030084HP:0040019Finger clinodactyly1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0030084HP:0040019Finger clinodactyly1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0030084HP:0040019Finger clinodactyly1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0030084HP:0040019Finger clinodactyly1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0030084HP:0040019Finger clinodactyly1SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0030084HP:0040019Finger clinodactyly1SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0030084HP:0040019Finger clinodactyly1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0030084HP:0040019Finger clinodactyly1SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0030084HP:0040019Finger clinodactyly1SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0030084HP:0040019Finger clinodactyly1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0030084HP:0040019Finger clinodactyly1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0030084HP:0040019Finger clinodactyly1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0030084HP:0040019Finger clinodactyly1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0030084HP:0040019Finger clinodactyly1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0030084HP:0040019Finger clinodactyly1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0030084HP:0040019Finger clinodactyly1SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0030084HP:0040019Finger clinodactyly1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0030084HP:0040019Finger clinodactyly1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0030084HP:0040019Finger clinodactyly1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0030084HP:0040019Finger clinodactyly1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0030084HP:0040019Finger clinodactyly1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0030084HP:0040019Finger clinodactyly1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0030084HP:0040019Finger clinodactyly1TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0030084HP:0040019Finger clinodactyly1TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0030084HP:0040019Finger clinodactyly1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0030084HP:0040019Finger clinodactyly1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0030084HP:0040019Finger clinodactyly1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0030084HP:0040019Finger clinodactyly1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0030084HP:0040019Finger clinodactyly1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0030084HP:0040019Finger clinodactyly1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0030084HP:0040019Finger clinodactyly1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0030084HP:0040019Finger clinodactyly1TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0030084HP:0040019Finger clinodactyly1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0030084HP:0040019Finger clinodactyly1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0030084HP:0040019Finger clinodactyly1TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0030084HP:0001863Toe clinodactyly1TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagus253
HP:0030084HP:0040019Finger clinodactyly1TMEM147 CL E G H1043030414OMIM:620075
HP:0030084HP:0040019Finger clinodactyly1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0030084HP:0040019Finger clinodactyly1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0030084HP:0040019Finger clinodactyly1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0030084HP:0040019Finger clinodactyly1TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0030084HP:0040019Finger clinodactyly1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0030084HP:0040019Finger clinodactyly1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0030084HP:0040019Finger clinodactyly1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0030084HP:0040019Finger clinodactyly1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0030084HP:0040019Finger clinodactyly1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0030084HP:0040019Finger clinodactyly1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0030084HP:0040019Finger clinodactyly1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0030084HP:0040019Finger clinodactyly1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0030084HP:0040019Finger clinodactyly1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0030084HP:0040019Finger clinodactyly1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0030084HP:0040019Finger clinodactyly1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0030084HP:0040019Finger clinodactyly1UBA2 CL E G H1005430661OMIM:619959
HP:0030084HP:0040019Finger clinodactyly1UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0030084HP:0040019Finger clinodactyly1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0030084HP:0040019Finger clinodactyly1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0030084HP:0040019Finger clinodactyly1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0030084HP:0040019Finger clinodactyly1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0030084HP:0040019Finger clinodactyly1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0030084HP:0040019Finger clinodactyly1VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0030084HP:0040019Finger clinodactyly1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0030084HP:0040019Finger clinodactyly1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0030084HP:0040019Finger clinodactyly1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0030084HP:0040019Finger clinodactyly1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0030084HP:0040019Finger clinodactyly1WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0030084HP:0040019Finger clinodactyly1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0030084HP:0001863Toe clinodactyly1WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagus149
HP:0030084HP:0040019Finger clinodactyly1XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0030084HP:0040019Finger clinodactyly1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0030084HP:0001863Toe clinodactyly1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0030084HP:0040019Finger clinodactyly1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0030084HP:0040019Finger clinodactyly1YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0030084HP:0040019Finger clinodactyly1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0030084HP:0040019Finger clinodactyly1YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0030084HP:0040019Finger clinodactyly1ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0030084HP:0040019Finger clinodactyly1ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0030084HP:0040019Finger clinodactyly1ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0030084HP:0040019Finger clinodactyly1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0030084HP:0040019Finger clinodactyly1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0030084HP:0040019Finger clinodactyly1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0030084HP:0040018Clinodactyly of hallux2 CL E G H
HP:0030084HP:0040025Clinodactyly of the 4th finger2ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040283 - Occasional245
HP:0030084HP:0004209Clinodactyly of the 5th finger2ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0030084HP:0004209Clinodactyly of the 5th finger2ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0030084HP:0004209Clinodactyly of the 5th finger2AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0030084HP:0004209Clinodactyly of the 5th finger2AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0030084HP:0004209Clinodactyly of the 5th finger2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0030084HP:0004209Clinodactyly of the 5th finger2ALDH1A2 CL E G H885415472OMIM:620025
HP:0030084HP:0004209Clinodactyly of the 5th finger2ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0030084HP:0001864Clinodactyly of the 5th toe2ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0030084HP:0004209Clinodactyly of the 5th finger2AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0030084HP:0004209Clinodactyly of the 5th finger2AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0030084HP:0004209Clinodactyly of the 5th finger2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0030084HP:0004209Clinodactyly of the 5th finger2AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0030084HP:0004209Clinodactyly of the 5th finger2ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0030084HP:0004209Clinodactyly of the 5th finger2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATP2B1 CL E G H490814OMIM:619910
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0030084HP:0004209Clinodactyly of the 5th finger2AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0030084HP:0004209Clinodactyly of the 5th finger2B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0030084HP:0004209Clinodactyly of the 5th finger2B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0030084HP:0004209Clinodactyly of the 5th finger2B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0030084HP:0004209Clinodactyly of the 5th finger2BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0030084HP:0004209Clinodactyly of the 5th finger2BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0030084HP:0004209Clinodactyly of the 5th finger2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0030084HP:0004209Clinodactyly of the 5th finger2BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0030084HP:0004209Clinodactyly of the 5th finger2BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0030084HP:0004209Clinodactyly of the 5th finger2BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent13
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent90
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040283 - Occasional90
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0030084HP:0004209Clinodactyly of the 5th finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0030084HP:0004209Clinodactyly of the 5th finger2BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0030084HP:0004209Clinodactyly of the 5th finger2BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0030084HP:0004209Clinodactyly of the 5th finger2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0030084HP:0004209Clinodactyly of the 5th finger2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0030084HP:0004209Clinodactyly of the 5th finger2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0030084HP:0004209Clinodactyly of the 5th finger2CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0030084HP:0004209Clinodactyly of the 5th finger2CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0030084HP:0004209Clinodactyly of the 5th finger2CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0030084HP:0004209Clinodactyly of the 5th finger2CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040283 - Occasional5
HP:0030084HP:0004209Clinodactyly of the 5th finger2CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0030084HP:0004209Clinodactyly of the 5th finger2CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040281 - Very frequent7
HP:0030084HP:0004209Clinodactyly of the 5th finger2CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0030084HP:0004209Clinodactyly of the 5th finger2CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0030084HP:0004209Clinodactyly of the 5th finger2CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0030084HP:0004209Clinodactyly of the 5th finger2CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0030084HP:0004209Clinodactyly of the 5th finger2CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0030084HP:0004209Clinodactyly of the 5th finger2CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0030084HP:0004209Clinodactyly of the 5th finger2CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0030084HP:0004209Clinodactyly of the 5th finger2CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0030084HP:0004209Clinodactyly of the 5th finger2CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0030084HP:0004209Clinodactyly of the 5th finger2CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0030084HP:0004209Clinodactyly of the 5th finger2CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0030084HP:0004209Clinodactyly of the 5th finger2CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0030084HP:0004209Clinodactyly of the 5th finger2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0030084HP:0004209Clinodactyly of the 5th finger2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0030084HP:0004209Clinodactyly of the 5th finger2CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0030084HP:0004209Clinodactyly of the 5th finger2CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0030084HP:0004209Clinodactyly of the 5th finger2CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0030084HP:0040022Clinodactyly of the 2nd finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0030084HP:0004209Clinodactyly of the 5th finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0030084HP:0004209Clinodactyly of the 5th finger2CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0030084HP:0004209Clinodactyly of the 5th finger2CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0030084HP:0001864Clinodactyly of the 5th toe2CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0030084HP:0004209Clinodactyly of the 5th finger2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0030084HP:0004209Clinodactyly of the 5th finger2CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0030084HP:0004209Clinodactyly of the 5th finger2CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0030084HP:0011918Clinodactyly of the 4th toe2COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0030084HP:0008115Clinodactyly of the 3rd toe2COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0030084HP:0004209Clinodactyly of the 5th finger2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0030084HP:0040025Clinodactyly of the 4th finger2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0030084HP:0004209Clinodactyly of the 5th finger2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0030084HP:0004209Clinodactyly of the 5th finger2CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0030084HP:0004209Clinodactyly of the 5th finger2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0030084HP:0004209Clinodactyly of the 5th finger2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0030084HP:0040022Clinodactyly of the 2nd finger2CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0030084HP:0004209Clinodactyly of the 5th finger2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0030084HP:0004209Clinodactyly of the 5th finger2CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0030084HP:0004209Clinodactyly of the 5th finger2CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0030084HP:0004209Clinodactyly of the 5th finger2CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040283 - Occasional127
HP:0030084HP:0004209Clinodactyly of the 5th finger2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0030084HP:0004209Clinodactyly of the 5th finger2DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0030084HP:0001864Clinodactyly of the 5th toe2DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent
HP:0030084HP:0040024Clinodactyly of the 3rd finger2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0030084HP:0004209Clinodactyly of the 5th finger2DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0030084HP:0004209Clinodactyly of the 5th finger2DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0030084HP:0004209Clinodactyly of the 5th finger2DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0030084HP:0004209Clinodactyly of the 5th finger2DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0030084HP:0004209Clinodactyly of the 5th finger2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional747
HP:0030084HP:0004209Clinodactyly of the 5th finger2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0030084HP:0004209Clinodactyly of the 5th finger2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0030084HP:0004209Clinodactyly of the 5th finger2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0030084HP:0004209Clinodactyly of the 5th finger2EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0030084HP:0004209Clinodactyly of the 5th finger2EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0030084HP:0004209Clinodactyly of the 5th finger2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0030084HP:0004209Clinodactyly of the 5th finger2EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0030084HP:0004209Clinodactyly of the 5th finger2ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0030084HP:0004209Clinodactyly of the 5th finger2EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0030084HP:0004209Clinodactyly of the 5th finger2EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0030084HP:0004209Clinodactyly of the 5th finger2ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0030084HP:0004209Clinodactyly of the 5th finger2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0030084HP:0004209Clinodactyly of the 5th finger2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0030084HP:0004209Clinodactyly of the 5th finger2EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0030084HP:0004209Clinodactyly of the 5th finger2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0030084HP:0004209Clinodactyly of the 5th finger2EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0030084HP:0004209Clinodactyly of the 5th finger2EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0030084HP:0004209Clinodactyly of the 5th finger2FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent175
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0030084HP:0004209Clinodactyly of the 5th finger2FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent145
HP:0030084HP:0004209Clinodactyly of the 5th finger2FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0030084HP:0004209Clinodactyly of the 5th finger2FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0030084HP:0004209Clinodactyly of the 5th finger2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0030084HP:0004209Clinodactyly of the 5th finger2GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0030084HP:0004209Clinodactyly of the 5th finger2GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0030084HP:0004209Clinodactyly of the 5th finger2GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0030084HP:0004209Clinodactyly of the 5th finger2GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0030084HP:0004209Clinodactyly of the 5th finger2GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040283 - Occasional52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040283 - Occasional52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0030084HP:0004209Clinodactyly of the 5th finger2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0030084HP:0004209Clinodactyly of the 5th finger2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0030084HP:0004209Clinodactyly of the 5th finger2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0030084HP:0004209Clinodactyly of the 5th finger2GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0030084HP:0004209Clinodactyly of the 5th finger2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0030084HP:0004209Clinodactyly of the 5th finger2GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030084HP:0004209Clinodactyly of the 5th finger2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0030084HP:0004209Clinodactyly of the 5th finger2GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0030084HP:0004209Clinodactyly of the 5th finger2H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0030084HP:0004209Clinodactyly of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0030084HP:0004209Clinodactyly of the 5th finger2H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0030084HP:0004209Clinodactyly of the 5th finger2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0030084HP:0004209Clinodactyly of the 5th finger2HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0030084HP:0004209Clinodactyly of the 5th finger2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0030084HP:0004209Clinodactyly of the 5th finger2HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0030084HP:0040023Clinodactyly of the thumb2HEATR3 CL E G H5502726087OMIM:620072
HP:0030084HP:0001864Clinodactyly of the 5th toe2HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0030084HP:0011918Clinodactyly of the 4th toe2HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0030084HP:0004209Clinodactyly of the 5th finger2HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0030084HP:0004209Clinodactyly of the 5th finger2HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2HNRNPH1 CL E G H31875041OMIM:620083
HP:0030084HP:0004209Clinodactyly of the 5th finger2HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0040022Clinodactyly of the 2nd finger2HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0005824Clinodactyly of the 2nd toe2HNRNPR CL E G H102365047OMIM:620073
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040283 - Occasional25
HP:0030084HP:0004209Clinodactyly of the 5th finger2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0030084HP:0004209Clinodactyly of the 5th finger2HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0030084HP:0004209Clinodactyly of the 5th finger2IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0030084HP:0040022Clinodactyly of the 2nd finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030084HP:0004209Clinodactyly of the 5th finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030084HP:0004209Clinodactyly of the 5th finger2IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0030084HP:0004209Clinodactyly of the 5th finger2IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0030084HP:0004209Clinodactyly of the 5th finger2IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0030084HP:0004209Clinodactyly of the 5th finger2IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0030084HP:0004209Clinodactyly of the 5th finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0030084HP:0004209Clinodactyly of the 5th finger2IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0030084HP:0004209Clinodactyly of the 5th finger2IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0030084HP:0004209Clinodactyly of the 5th finger2JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0030084HP:0004209Clinodactyly of the 5th finger2JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0030084HP:0004209Clinodactyly of the 5th finger2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional222
HP:0030084HP:0004209Clinodactyly of the 5th finger2KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0030084HP:0004209Clinodactyly of the 5th finger2KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0030084HP:0004209Clinodactyly of the 5th finger2KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0030084HP:0040025Clinodactyly of the 4th finger2KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040283 - Occasional127
HP:0030084HP:0004209Clinodactyly of the 5th finger2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0030084HP:0001864Clinodactyly of the 5th toe2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0030084HP:0001864Clinodactyly of the 5th toe2KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0030084HP:0001864Clinodactyly of the 5th toe2KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0030084HP:0004209Clinodactyly of the 5th finger2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0030084HP:0004209Clinodactyly of the 5th finger2KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0030084HP:0004209Clinodactyly of the 5th finger2KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0030084HP:0004209Clinodactyly of the 5th finger2KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0030084HP:0004209Clinodactyly of the 5th finger2KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0030084HP:0004209Clinodactyly of the 5th finger2KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0030084HP:0004209Clinodactyly of the 5th finger2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0030084HP:0004209Clinodactyly of the 5th finger2KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0030084HP:0004209Clinodactyly of the 5th finger2KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0030084HP:0004209Clinodactyly of the 5th finger2KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0030084HP:0004209Clinodactyly of the 5th finger2KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0030084HP:0040024Clinodactyly of the 3rd finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0030084HP:0040022Clinodactyly of the 2nd finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0030084HP:0040025Clinodactyly of the 4th finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0030084HP:0004209Clinodactyly of the 5th finger2KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0030084HP:0004209Clinodactyly of the 5th finger2KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0030084HP:0004209Clinodactyly of the 5th finger2L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040282 - Frequent134
HP:0030084HP:0004209Clinodactyly of the 5th finger2LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0030084HP:0004209Clinodactyly of the 5th finger2LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0030084HP:0004209Clinodactyly of the 5th finger2LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0030084HP:0004209Clinodactyly of the 5th finger2LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0030084HP:0004209Clinodactyly of the 5th finger2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0030084HP:0004209Clinodactyly of the 5th finger2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0030084HP:0004209Clinodactyly of the 5th finger2LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0030084HP:0004209Clinodactyly of the 5th finger2LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0030084HP:0004209Clinodactyly of the 5th finger2MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0030084HP:0004209Clinodactyly of the 5th finger2MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0030084HP:0004209Clinodactyly of the 5th finger2MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0030084HP:0004209Clinodactyly of the 5th finger2MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0030084HP:0004209Clinodactyly of the 5th finger2MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0030084HP:0004209Clinodactyly of the 5th finger2MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent4
HP:0030084HP:0004209Clinodactyly of the 5th finger2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0030084HP:0040022Clinodactyly of the 2nd finger2MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0030084HP:0004209Clinodactyly of the 5th finger2MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0030084HP:0040024Clinodactyly of the 3rd finger2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0030084HP:0004209Clinodactyly of the 5th finger2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0030084HP:0004209Clinodactyly of the 5th finger2METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0030084HP:0004209Clinodactyly of the 5th finger2MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0030084HP:0004209Clinodactyly of the 5th finger2MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0030084HP:0004209Clinodactyly of the 5th finger2MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0030084HP:0004209Clinodactyly of the 5th finger2MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0030084HP:0004209Clinodactyly of the 5th finger2NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0030084HP:0004209Clinodactyly of the 5th finger2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0030084HP:0004209Clinodactyly of the 5th finger2NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0030084HP:0040025Clinodactyly of the 4th finger2NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040283 - Occasional34
HP:0030084HP:0004209Clinodactyly of the 5th finger2NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0030084HP:0004209Clinodactyly of the 5th finger2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0030084HP:0004209Clinodactyly of the 5th finger2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0030084HP:0004209Clinodactyly of the 5th finger2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0030084HP:0004209Clinodactyly of the 5th finger2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0030084HP:0004209Clinodactyly of the 5th finger2NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0030084HP:0004209Clinodactyly of the 5th finger2NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0030084HP:0004209Clinodactyly of the 5th finger2NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0030084HP:0004209Clinodactyly of the 5th finger2NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0030084HP:0011918Clinodactyly of the 4th toe2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0030084HP:0004209Clinodactyly of the 5th finger2NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040283 - Occasional22
HP:0030084HP:0004209Clinodactyly of the 5th finger2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0030084HP:0004209Clinodactyly of the 5th finger2NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0030084HP:0004209Clinodactyly of the 5th finger2NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0030084HP:0004209Clinodactyly of the 5th finger2NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0030084HP:0004209Clinodactyly of the 5th finger2NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive.
HP:0030084HP:0004209Clinodactyly of the 5th finger2NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040283 - Occasional143
HP:0030084HP:0004209Clinodactyly of the 5th finger2ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0030084HP:0004209Clinodactyly of the 5th finger2ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0030084HP:0004209Clinodactyly of the 5th finger2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0030084HP:0004209Clinodactyly of the 5th finger2OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0030084HP:0004209Clinodactyly of the 5th finger2ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0030084HP:0004209Clinodactyly of the 5th finger2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0030084HP:0004209Clinodactyly of the 5th finger2ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0030084HP:0004209Clinodactyly of the 5th finger2ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0030084HP:0004209Clinodactyly of the 5th finger2PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0030084HP:0004209Clinodactyly of the 5th finger2PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0030084HP:0004209Clinodactyly of the 5th finger2PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0030084HP:0004209Clinodactyly of the 5th finger2PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0030084HP:0004209Clinodactyly of the 5th finger2PAICS CL E G H106068587OMIM:619859
HP:0030084HP:0004209Clinodactyly of the 5th finger2PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0030084HP:0004209Clinodactyly of the 5th finger2PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0030084HP:0004209Clinodactyly of the 5th finger2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0030084HP:0004209Clinodactyly of the 5th finger2PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0030084HP:0004209Clinodactyly of the 5th finger2PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0030084HP:0004209Clinodactyly of the 5th finger2PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0030084HP:0001864Clinodactyly of the 5th toe2PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0030084HP:0004209Clinodactyly of the 5th finger2PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0030084HP:0040024Clinodactyly of the 3rd finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0030084HP:0040025Clinodactyly of the 4th finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0030084HP:0040022Clinodactyly of the 2nd finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0030084HP:0004209Clinodactyly of the 5th finger2PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0030084HP:0040024Clinodactyly of the 3rd finger2PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0030084HP:0004209Clinodactyly of the 5th finger2PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0030084HP:0004209Clinodactyly of the 5th finger2PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional103
HP:0030084HP:0004209Clinodactyly of the 5th finger2POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0030084HP:0004209Clinodactyly of the 5th finger2POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040283 - Occasional2
HP:0030084HP:0004209Clinodactyly of the 5th finger2PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0030084HP:0004209Clinodactyly of the 5th finger2PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0030084HP:0004209Clinodactyly of the 5th finger2PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0030084HP:0004209Clinodactyly of the 5th finger2PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0030084HP:0004209Clinodactyly of the 5th finger2PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0030084HP:0004209Clinodactyly of the 5th finger2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0030084HP:0004209Clinodactyly of the 5th finger2PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0030084HP:0004209Clinodactyly of the 5th finger2PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0030084HP:0004209Clinodactyly of the 5th finger2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0030084HP:0004209Clinodactyly of the 5th finger2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0030084HP:0004209Clinodactyly of the 5th finger2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0030084HP:0001864Clinodactyly of the 5th toe2RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030084HP:0011918Clinodactyly of the 4th toe2RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0030084HP:0004209Clinodactyly of the 5th finger2RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0030084HP:0004209Clinodactyly of the 5th finger2RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0030084HP:0004209Clinodactyly of the 5th finger2RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0030084HP:0004209Clinodactyly of the 5th finger2RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0030084HP:0004209Clinodactyly of the 5th finger2RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0030084HP:0004209Clinodactyly of the 5th finger2RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0030084HP:0004209Clinodactyly of the 5th finger2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0030084HP:0004209Clinodactyly of the 5th finger2RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0030084HP:0004209Clinodactyly of the 5th finger2RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0030084HP:0004209Clinodactyly of the 5th finger2REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0030084HP:0004209Clinodactyly of the 5th finger2RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0030084HP:0004209Clinodactyly of the 5th finger2RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional10
HP:0030084HP:0001864Clinodactyly of the 5th toe2RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent3
HP:0030084HP:0004209Clinodactyly of the 5th finger2RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0030084HP:0004209Clinodactyly of the 5th finger2RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0030084HP:0004209Clinodactyly of the 5th finger2RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0030084HP:0004209Clinodactyly of the 5th finger2RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0030084HP:0004209Clinodactyly of the 5th finger2ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0030084HP:0004209Clinodactyly of the 5th finger2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0030084HP:0004209Clinodactyly of the 5th finger2RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0030084HP:0004209Clinodactyly of the 5th finger2RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0030084HP:0004209Clinodactyly of the 5th finger2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0030084HP:0040024Clinodactyly of the 3rd finger2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0030084HP:0004209Clinodactyly of the 5th finger2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0030084HP:0001864Clinodactyly of the 5th toe2SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0030084HP:0004209Clinodactyly of the 5th finger2SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0030084HP:0004209Clinodactyly of the 5th finger2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0030084HP:0004209Clinodactyly of the 5th finger2SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0030084HP:0004209Clinodactyly of the 5th finger2SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0030084HP:0004209Clinodactyly of the 5th finger2SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0030084HP:0004209Clinodactyly of the 5th finger2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0030084HP:0004209Clinodactyly of the 5th finger2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0030084HP:0004209Clinodactyly of the 5th finger2SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0030084HP:0004209Clinodactyly of the 5th finger2SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0030084HP:0004209Clinodactyly of the 5th finger2SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030084HP:0004209Clinodactyly of the 5th finger2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0030084HP:0004209Clinodactyly of the 5th finger2SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0030084HP:0004209Clinodactyly of the 5th finger2SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0030084HP:0004209Clinodactyly of the 5th finger2SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0030084HP:0004209Clinodactyly of the 5th finger2SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0030084HP:0004209Clinodactyly of the 5th finger2SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0030084HP:0004209Clinodactyly of the 5th finger2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0030084HP:0004209Clinodactyly of the 5th finger2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0030084HP:0004209Clinodactyly of the 5th finger2SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0030084HP:0004209Clinodactyly of the 5th finger2SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0030084HP:0004209Clinodactyly of the 5th finger2SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0030084HP:0004209Clinodactyly of the 5th finger2SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0030084HP:0040025Clinodactyly of the 4th finger2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0030084HP:0004209Clinodactyly of the 5th finger2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0030084HP:0004209Clinodactyly of the 5th finger2SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0030084HP:0004209Clinodactyly of the 5th finger2SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0030084HP:0004209Clinodactyly of the 5th finger2SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0030084HP:0004209Clinodactyly of the 5th finger2SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0030084HP:0004209Clinodactyly of the 5th finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0030084HP:0004209Clinodactyly of the 5th finger2STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0030084HP:0004209Clinodactyly of the 5th finger2STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0030084HP:0004209Clinodactyly of the 5th finger2STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0030084HP:0004209Clinodactyly of the 5th finger2TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0030084HP:0004209Clinodactyly of the 5th finger2TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0030084HP:0004209Clinodactyly of the 5th finger2TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0030084HP:0004209Clinodactyly of the 5th finger2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0030084HP:0004209Clinodactyly of the 5th finger2TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0030084HP:0004209Clinodactyly of the 5th finger2TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0030084HP:0004209Clinodactyly of the 5th finger2TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0030084HP:0004209Clinodactyly of the 5th finger2TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0030084HP:0001864Clinodactyly of the 5th toe2TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent253
HP:0030084HP:0004209Clinodactyly of the 5th finger2TMEM147 CL E G H1043030414OMIM:620075
HP:0030084HP:0004209Clinodactyly of the 5th finger2TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040283 - Occasional214
HP:0030084HP:0004209Clinodactyly of the 5th finger2TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0030084HP:0004209Clinodactyly of the 5th finger2TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent18
HP:0030084HP:0004209Clinodactyly of the 5th finger2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0030084HP:0004209Clinodactyly of the 5th finger2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0030084HP:0004209Clinodactyly of the 5th finger2TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBA2 CL E G H1005430661OMIM:619959
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0030084HP:0004209Clinodactyly of the 5th finger2USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0030084HP:0004209Clinodactyly of the 5th finger2VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0030084HP:0004209Clinodactyly of the 5th finger2VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0030084HP:0004209Clinodactyly of the 5th finger2WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0030084HP:0004209Clinodactyly of the 5th finger2WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0030084HP:0004209Clinodactyly of the 5th finger2WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0030084HP:0004209Clinodactyly of the 5th finger2WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0030084HP:0004209Clinodactyly of the 5th finger2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0030084HP:0001864Clinodactyly of the 5th toe2WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent149
HP:0030084HP:0004209Clinodactyly of the 5th finger2XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0030084HP:0004209Clinodactyly of the 5th finger2XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0030084HP:0004209Clinodactyly of the 5th finger2XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0030084HP:0004209Clinodactyly of the 5th finger2YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0030084HP:0004209Clinodactyly of the 5th finger2YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0030084HP:0004209Clinodactyly of the 5th finger2ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0030084HP:0005769Fifth finger distal phalanx clinodactyly3GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68


Genes (515) :ABCC8 ABL1 ACVR1 AFF2 AGO2 AKT1 ALDH1A2 ALG12 ALG3 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1A ARID1B ARID2 ATG7 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GLCT BAZ1B BBS7 BCL7B BCOR BCR BHLHA9 BLM BLTP1 BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12ORF57 CACNA1G CANT1 CASZ1 CBL CCDC22 CCDC32 CCDC8 CCNQ CD96 CDC42 CDC45 CDC6 CDH1 CDH11 CDK10 CDK13 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHSY1 CITED2 CKAP2L CLCF1 CLCN3 CLIP2 CNOT2 CNOT3 COG5 COG8 COL11A1 COL2A1 COLEC10 CPLANE1 CREBBP CRKL CSGALNACT1 CSNK2A1 CTCF CUL4B CUL7 DACT1 DCHS1 DDX11 DEAF1 DHPS DLEC1 DLK1 DLX3 DLX5 DNAJC30 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM EFNB1 EIF4A3 EIF4H ELN EMG1 EP300 EPB41L1 ERCC4 ERMARD ESCO2 EVC EVC2 EXOSC5 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO11 FGD1 FGF10 FGF16 FGFR1 FGFR2 FGFR3 FIG4 FKBP6 FLI1 FLII FLNA FLNB FLT4 FN1 FOXP1 FZD2 G6PC3 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H19-ICR H3-3B H4C3 HDAC4 HDAC8 HEATR3 HEPHL1 HERC2 HIC1 HMGA2 HNRNPH1 HNRNPR HOXA11 HOXA13 HOXD13 HSPG2 HUWE1 IFT122 IFT140 IFT43 IFT52 IGF1 IGF1R IGF2 IHH IL11RA INPP5E INTU IPW IQSEC2 IRX5 ITCH JAG1 JUP KAT6B KAT8 KCNAB2 KCNJ11 KCNJ2 KCNJ5 KCNK4 KCNN3 KDM1A KDM4B KDM5C KDM6B KDR KIAA0753 KIF15 KIF7 KIFBP KLF13 KMT2A KMT2B KNSTRN KPTN KRAS L1CAM LEMD3 LIG4 LIMK1 LMNA LMNB2 LMX1B LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MAF MAGEL2 MAN1B1 MAP1B MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MED13L MED25 MEF2C MEG3 MEGF8 METTL27 MIA3 MID2 MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MRAS MTRR MYCN MYL11 MYOD1 NAA10 NAA20 NARS1 NARS2 NCAPG2 NCF1 NEK1 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NOG NONO NPAP1 NPR2 NPR3 NRAS NSD2 NSMF NSUN2 NUP107 NUP188 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT ORC1 ORC4 ORC6 PACS1 PACS2 PAFAH1B1 PAH PAICS PALB2 PAX1 PAX3 PCDHGC4 PCGF2 PCNT PDE6D PDPN PGAP2 PGAP3 PHF21A PHGDH PHIP PIEZO2 PIGH PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLK4 PLXND1 PNPLA6 POC1A POLA1 POLE POLR3A POMP POR PPP1R15B PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRR12 PTEN PTH1R PTPN11 PUF60 PUM1 PWAR1 PWRN1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RASA2 RB1 RBBP8 RBM10 RBM8A RERE REV3L RFC2 RFWD3 RHOA RIT1 RNF216 RNF6 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RTL1 RUNX2 SALL1 SATB2 SEMA3E SF3B4 SH3PXD2B SHANK3 SHOX SIAH1 SIK3 SIN3A SIN3B SKI SLC29A3 SLC2A10 SLC35A1 SLC9A7 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SOS1 SOS2 SOX11 SOX4 SOX5 SOX6 SPART SPECC1L SPEN SPOP SPRED1 SPRED2 SPRTN SRCAP SSR4 STAG1 STAG2 STAMBP STX1A SUZ12 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX15 TBX4 TBX5 TCF20 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFBR2 TMEM147 TMEM216 TMEM270 TNNT3 TOPORS TP63 TRAF7 TRAIP TRAPPC9 TRIO TRIP12 TRIP13 TRMT10A TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR19 WDR35 WDR4 WIPI2 WNT5A WNT7A WWOX XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZFPM2 ZMYM2 ZNF292 ZNF462

Diseases (482) :ORPHA:79134 OMIM:617602 ORPHA:337 OMIM:135100 ORPHA:100973 OMIM:619149 ORPHA:744 OMIM:620025 ORPHA:79324 OMIM:601110 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:300373 OMIM:300990 OMIM:148050 ORPHA:2332 OMIM:619467 ORPHA:1465 ORPHA:251056 OMIM:135900 OMIM:617808 OMIM:619422 OMIM:619910 ORPHA:79500 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:615834 ORPHA:2725 ORPHA:709 OMIM:261540 ORPHA:904 OMIM:615984 ORPHA:568 OMIM:309800 ORPHA:2712 ORPHA:261330 ORPHA:157801 OMIM:609432 OMIM:210900 OMIM:617822 ORPHA:93396 OMIM:112600 OMIM:617877 OMIM:607932 ORPHA:93388 ORPHA:93384 OMIM:616849 OMIM:617755 OMIM:115150 OMIM:163950 OMIM:618056 ORPHA:84 OMIM:617883 ORPHA:199 OMIM:616202 ORPHA:1052 ORPHA:1777 OMIM:618087 ORPHA:1425 ORPHA:1606 ORPHA:648 OMIM:300963 OMIM:619123 ORPHA:2616 OMIM:614205 ORPHA:140952 OMIM:300707 ORPHA:1308 OMIM:211750 ORPHA:487796 OMIM:616737 ORPHA:2554 OMIM:613805 OMIM:119580 OMIM:619736 OMIM:617694 OMIM:617360 ORPHA:397590 OMIM:613823 OMIM:236500 OMIM:614114 ORPHA:138 ORPHA:199318 OMIM:612001 ORPHA:363417 OMIM:605282 ORPHA:3303 OMIM:272440 ORPHA:3255 OMIM:610313 OMIM:619512 OMIM:618608 OMIM:618672 ORPHA:263487 OMIM:611182 OMIM:228520 OMIM:154780 ORPHA:93315 OMIM:248340 ORPHA:2754 OMIM:277170 OMIM:618332 OMIM:180849 OMIM:618870 OMIM:617062 ORPHA:363611 ORPHA:85293 OMIM:273750 ORPHA:857 OMIM:601390 OMIM:613398 ORPHA:819 OMIM:618480 ORPHA:99977 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:3352 OMIM:183600 OMIM:617604 OMIM:608093 ORPHA:86309 OMIM:618027 OMIM:609638 ORPHA:158687 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:223800 ORPHA:1520 OMIM:304110 OMIM:268305 OMIM:194050 ORPHA:1270 OMIM:211180 OMIM:614257 ORPHA:75857 ORPHA:3103 OMIM:268300 ORPHA:952 OMIM:193530 OMIM:619576 OMIM:616682 OMIM:277590 OMIM:615546 OMIM:618089 ORPHA:915 OMIM:305400 OMIM:149730 ORPHA:2363 OMIM:309630 OMIM:147950 OMIM:101400 ORPHA:794 OMIM:602849 OMIM:216340 ORPHA:2308 OMIM:300049 OMIM:300244 ORPHA:88630 OMIM:272460 ORPHA:391372 OMIM:612541 OMIM:190685 OMIM:187500 OMIM:113100 ORPHA:3250 OMIM:615298 OMIM:164200 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:619503 ORPHA:373 ORPHA:2662 OMIM:301026 ORPHA:96182 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:619721 OMIM:619758 ORPHA:1001 OMIM:300882 OMIM:620072 OMIM:261990 OMIM:176270 ORPHA:531 ORPHA:94063 OMIM:620083 OMIM:620073 ORPHA:71289 OMIM:605432 OMIM:140000 ORPHA:2438 ORPHA:93406 OMIM:186000 OMIM:309590 ORPHA:1515 OMIM:218330 OMIM:266920 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:616489 OMIM:112500 OMIM:614188 OMIM:213300 OMIM:617926 OMIM:611174 OMIM:613385 ORPHA:228426 ORPHA:3047 OMIM:618974 OMIM:170390 ORPHA:37553 OMIM:618381 OMIM:618658 OMIM:616728 ORPHA:477993 OMIM:619320 ORPHA:85279 OMIM:618505 OMIM:619981 ORPHA:261323 OMIM:200990 OMIM:607131 ORPHA:166024 OMIM:609460 OMIM:605130 ORPHA:319182 ORPHA:589618 ORPHA:221139 ORPHA:397612 OMIM:615637 ORPHA:2466 ORPHA:235 ORPHA:99812 ORPHA:79474 OMIM:610140 OMIM:619180 ORPHA:2614 OMIM:161200 OMIM:619451 ORPHA:1275 ORPHA:1272 OMIM:615547 ORPHA:397941 OMIM:614202 OMIM:618918 OMIM:617137 OMIM:619087 OMIM:618443 OMIM:616734 OMIM:257920 ORPHA:228402 OMIM:156200 ORPHA:1596 OMIM:300260 ORPHA:93932 OMIM:300895 OMIM:305450 ORPHA:369891 OMIM:616789 ORPHA:464738 OMIM:613443 OMIM:614976 OMIM:619269 OMIM:300928 OMIM:249000 ORPHA:2169 ORPHA:391641 OMIM:619110 OMIM:618975 OMIM:300855 OMIM:619717 OMIM:619091 OMIM:619092 OMIM:618460 ORPHA:2751 OMIM:300912 ORPHA:447980 OMIM:602535 ORPHA:319675 OMIM:614851 OMIM:122470 OMIM:186500 OMIM:186570 ORPHA:466791 OMIM:615923 OMIM:619543 OMIM:619695 OMIM:614838 OMIM:618348 OMIM:616730 OMIM:618804 OMIM:618179 ORPHA:1507 OMIM:618529 OMIM:612921 OMIM:619075 ORPHA:544488 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:300997 OMIM:224690 ORPHA:329224 OMIM:618067 ORPHA:217385 ORPHA:2209 OMIM:619859 OMIM:615560 OMIM:148820 OMIM:619880 OMIM:618371 ORPHA:2637 OMIM:210720 ORPHA:247262 OMIM:618725 OMIM:256520 OMIM:617991 ORPHA:589905 OMIM:108145 ORPHA:376 OMIM:618010 OMIM:280000 ORPHA:2059 OMIM:618143 OMIM:616809 ORPHA:557003 OMIM:269880 OMIM:618821 ORPHA:570 ORPHA:1173 OMIM:614813 OMIM:301030 ORPHA:163976 OMIM:618336 OMIM:264090 OMIM:618048 ORPHA:95699 ORPHA:391408 ORPHA:457284 OMIM:309500 OMIM:619143 OMIM:619539 OMIM:600002 OMIM:156400 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:617931 OMIM:617982 OMIM:617807 OMIM:614222 OMIM:201000 OMIM:614225 OMIM:618577 OMIM:614701 OMIM:619311 ORPHA:1587 OMIM:606744 ORPHA:2886 OMIM:311900 OMIM:274000 ORPHA:3320 OMIM:616975 OMIM:618727 OMIM:226960 ORPHA:2636 OMIM:616651 ORPHA:353298 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:457395 ORPHA:1452 OMIM:107480 ORPHA:251019 ORPHA:251028 ORPHA:576283 OMIM:154400 ORPHA:137834 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:619314 OMIM:618162 ORPHA:94065 ORPHA:500166 OMIM:613406 OMIM:602782 ORPHA:3342 OMIM:603585 OMIM:301024 OMIM:139210 OMIM:619293 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:1106 ORPHA:1393 OMIM:117650 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:615866 OMIM:618506 OMIM:616803 OMIM:618971 ORPHA:101000 OMIM:275900 ORPHA:1519 OMIM:618828 OMIM:618829 ORPHA:137605 OMIM:619745 OMIM:616200 ORPHA:2044 OMIM:136140 OMIM:300934 ORPHA:502434 OMIM:301022 OMIM:614261 OMIM:618786 OMIM:618950 OMIM:220500 ORPHA:488632 OMIM:260660 ORPHA:261279 OMIM:142900 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:258860 ORPHA:488642 OMIM:113620 OMIM:169100 ORPHA:46627 ORPHA:1388 OMIM:616145 OMIM:620075 OMIM:618435 ORPHA:69085 OMIM:618164 ORPHA:352530 OMIM:617061 ORPHA:476126 OMIM:617752 ORPHA:77258 OMIM:113500 ORPHA:2635 OMIM:181405 OMIM:618454 OMIM:200110 OMIM:209885 OMIM:619959 ORPHA:238446 OMIM:244450 OMIM:243800 OMIM:616863 ORPHA:193 OMIM:613610 OMIM:618347 OMIM:618453 OMIM:228930 OMIM:616541 OMIM:615777 ORPHA:370930 OMIM:602531 ORPHA:3454 OMIM:619522 OMIM:619188 OMIM:618619
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.