Human Phenotype Ontology 
Grandparent Node:
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Clinodactyly (HP:0030084)help
Grandparent Node:
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Deviation of finger (HP:0004097)help
Parent Node:
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Deviation of the 5th finger (HP:0009179)help
Parent Node:
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Finger clinodactyly (HP:0040019)help
..Starting node
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Clinodactyly of the 5th finger (HP:0004209)help
Term ID: 4209
Name: Clinodactyly of the 5th finger
Synonym: Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Curvature of little finger; Curvature of pinkie finger; Curvature of pinky finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger
Definition: Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Comments:
Reference: HP:0004209
Genes and Diseases:
 
       Child Nodes:
........expandFifth finger distal phalanx clinodactyly (HP:0005769) help

 Sister Nodes: 
..expandClinodactyly of the 2nd finger (HP:0040022) help
..expandClinodactyly of the 3rd finger (HP:0040024) help
..expandClinodactyly of the 4th finger (HP:0040025) help
..expandClinodactyly of the thumb (HP:0040023) 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:0004209HP:0004209Clinodactyly of the 5th finger0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0004209HP:0004209Clinodactyly of the 5th finger0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0004209HP:0004209Clinodactyly of the 5th finger0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0004209HP:0004209Clinodactyly of the 5th finger0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0004209HP:0004209Clinodactyly of the 5th finger0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0004209HP:0004209Clinodactyly of the 5th finger0ALDH1A2 CL E G H885415472OMIM:620025
HP:0004209HP:0004209Clinodactyly of the 5th finger0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0004209HP:0004209Clinodactyly of the 5th finger0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0004209HP:0004209Clinodactyly of the 5th finger0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0004209HP:0004209Clinodactyly of the 5th finger0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0004209HP:0004209Clinodactyly of the 5th finger0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0004209HP:0004209Clinodactyly of the 5th finger0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0004209HP:0004209Clinodactyly of the 5th finger0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATP2B1 CL E G H490814OMIM:619910
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0004209HP:0004209Clinodactyly of the 5th finger0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0004209HP:0004209Clinodactyly of the 5th finger0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0004209HP:0004209Clinodactyly of the 5th finger0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0004209HP:0004209Clinodactyly of the 5th finger0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0004209HP:0004209Clinodactyly of the 5th finger0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0004209HP:0004209Clinodactyly of the 5th finger0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0004209HP:0004209Clinodactyly of the 5th finger0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0004209HP:0004209Clinodactyly of the 5th finger0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0004209HP:0004209Clinodactyly of the 5th finger0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0004209HP:0004209Clinodactyly of the 5th finger0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent13
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent90
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040283 - Occasional90
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0004209HP:0004209Clinodactyly of the 5th finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0004209HP:0004209Clinodactyly of the 5th finger0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0004209HP:0004209Clinodactyly of the 5th finger0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0004209HP:0004209Clinodactyly of the 5th finger0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0004209HP:0004209Clinodactyly of the 5th finger0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0004209HP:0004209Clinodactyly of the 5th finger0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0004209HP:0004209Clinodactyly of the 5th finger0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0004209HP:0004209Clinodactyly of the 5th finger0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0004209HP:0004209Clinodactyly of the 5th finger0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0004209HP:0004209Clinodactyly of the 5th finger0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0004209HP:0004209Clinodactyly of the 5th finger0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040283 - Occasional5
HP:0004209HP:0004209Clinodactyly of the 5th finger0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0004209HP:0004209Clinodactyly of the 5th finger0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040281 - Very frequent7
HP:0004209HP:0004209Clinodactyly of the 5th finger0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0004209HP:0004209Clinodactyly of the 5th finger0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0004209HP:0004209Clinodactyly of the 5th finger0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0004209HP:0004209Clinodactyly of the 5th finger0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0004209HP:0004209Clinodactyly of the 5th finger0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0004209HP:0004209Clinodactyly of the 5th finger0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0004209HP:0004209Clinodactyly of the 5th finger0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0004209HP:0004209Clinodactyly of the 5th finger0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0004209HP:0004209Clinodactyly of the 5th finger0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0004209HP:0004209Clinodactyly of the 5th finger0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0004209HP:0004209Clinodactyly of the 5th finger0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0004209HP:0004209Clinodactyly of the 5th finger0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0004209HP:0004209Clinodactyly of the 5th finger0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0004209HP:0004209Clinodactyly of the 5th finger0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0004209HP:0004209Clinodactyly of the 5th finger0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0004209HP:0004209Clinodactyly of the 5th finger0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0004209HP:0004209Clinodactyly of the 5th finger0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0004209HP:0004209Clinodactyly of the 5th finger0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0004209HP:0004209Clinodactyly of the 5th finger0CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0004209HP:0004209Clinodactyly of the 5th finger0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0004209HP:0004209Clinodactyly of the 5th finger0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0004209HP:0004209Clinodactyly of the 5th finger0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0004209HP:0004209Clinodactyly of the 5th finger0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0004209HP:0004209Clinodactyly of the 5th finger0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0004209HP:0004209Clinodactyly of the 5th finger0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0004209HP:0004209Clinodactyly of the 5th finger0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0004209HP:0004209Clinodactyly of the 5th finger0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0004209HP:0004209Clinodactyly of the 5th finger0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0004209HP:0004209Clinodactyly of the 5th finger0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0004209HP:0004209Clinodactyly of the 5th finger0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0004209HP:0004209Clinodactyly of the 5th finger0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040283 - Occasional127
HP:0004209HP:0004209Clinodactyly of the 5th finger0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0004209HP:0004209Clinodactyly of the 5th finger0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0004209HP:0004209Clinodactyly of the 5th finger0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0004209HP:0004209Clinodactyly of the 5th finger0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0004209HP:0004209Clinodactyly of the 5th finger0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0004209HP:0004209Clinodactyly of the 5th finger0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0004209HP:0004209Clinodactyly of the 5th finger0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional747
HP:0004209HP:0004209Clinodactyly of the 5th finger0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0004209HP:0004209Clinodactyly of the 5th finger0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0004209HP:0004209Clinodactyly of the 5th finger0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0004209HP:0004209Clinodactyly of the 5th finger0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0004209HP:0004209Clinodactyly of the 5th finger0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0004209HP:0004209Clinodactyly of the 5th finger0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0004209HP:0004209Clinodactyly of the 5th finger0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0004209HP:0004209Clinodactyly of the 5th finger0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0004209HP:0004209Clinodactyly of the 5th finger0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0004209HP:0004209Clinodactyly of the 5th finger0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0004209HP:0004209Clinodactyly of the 5th finger0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0004209HP:0004209Clinodactyly of the 5th finger0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0004209HP:0004209Clinodactyly of the 5th finger0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0004209HP:0004209Clinodactyly of the 5th finger0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0004209HP:0004209Clinodactyly of the 5th finger0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0004209HP:0004209Clinodactyly of the 5th finger0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0004209HP:0004209Clinodactyly of the 5th finger0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0004209HP:0004209Clinodactyly of the 5th finger0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent175
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0004209HP:0004209Clinodactyly of the 5th finger0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent145
HP:0004209HP:0004209Clinodactyly of the 5th finger0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0004209HP:0004209Clinodactyly of the 5th finger0FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0004209HP:0004209Clinodactyly of the 5th finger0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0004209HP:0004209Clinodactyly of the 5th finger0GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0004209HP:0004209Clinodactyly of the 5th finger0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0004209HP:0004209Clinodactyly of the 5th finger0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0004209HP:0004209Clinodactyly of the 5th finger0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0004209HP:0004209Clinodactyly of the 5th finger0GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040283 - Occasional52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040283 - Occasional52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0004209HP:0004209Clinodactyly of the 5th finger0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0004209HP:0004209Clinodactyly of the 5th finger0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0004209HP:0004209Clinodactyly of the 5th finger0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0004209HP:0004209Clinodactyly of the 5th finger0GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0004209HP:0004209Clinodactyly of the 5th finger0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0004209HP:0004209Clinodactyly of the 5th finger0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0004209HP:0004209Clinodactyly of the 5th finger0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004209HP:0004209Clinodactyly of the 5th finger0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0004209HP:0004209Clinodactyly of the 5th finger0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0004209HP:0004209Clinodactyly of the 5th finger0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0004209HP:0004209Clinodactyly of the 5th finger0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0004209HP:0004209Clinodactyly of the 5th finger0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0004209HP:0004209Clinodactyly of the 5th finger0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0004209HP:0004209Clinodactyly of the 5th finger0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0004209HP:0004209Clinodactyly of the 5th finger0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0004209HP:0004209Clinodactyly of the 5th finger0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0004209HP:0004209Clinodactyly of the 5th finger0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0004209HP:0004209Clinodactyly of the 5th finger0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0HNRNPH1 CL E G H31875041OMIM:620083
HP:0004209HP:0004209Clinodactyly of the 5th finger0HNRNPR CL E G H102365047OMIM:620073
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent3
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040283 - Occasional25
HP:0004209HP:0004209Clinodactyly of the 5th finger0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0004209HP:0004209Clinodactyly of the 5th finger0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0004209HP:0004209Clinodactyly of the 5th finger0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0004209HP:0004209Clinodactyly of the 5th finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0004209HP:0004209Clinodactyly of the 5th finger0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0004209HP:0004209Clinodactyly of the 5th finger0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0004209HP:0004209Clinodactyly of the 5th finger0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0004209HP:0004209Clinodactyly of the 5th finger0IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0004209HP:0004209Clinodactyly of the 5th finger0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0004209HP:0004209Clinodactyly of the 5th finger0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0004209HP:0004209Clinodactyly of the 5th finger0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0004209HP:0004209Clinodactyly of the 5th finger0JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0004209HP:0004209Clinodactyly of the 5th finger0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0004209HP:0004209Clinodactyly of the 5th finger0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional222
HP:0004209HP:0004209Clinodactyly of the 5th finger0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0004209HP:0004209Clinodactyly of the 5th finger0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0004209HP:0004209Clinodactyly of the 5th finger0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0004209HP:0004209Clinodactyly of the 5th finger0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0004209HP:0004209Clinodactyly of the 5th finger0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0004209HP:0004209Clinodactyly of the 5th finger0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0004209HP:0004209Clinodactyly of the 5th finger0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0004209HP:0004209Clinodactyly of the 5th finger0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0004209HP:0004209Clinodactyly of the 5th finger0KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0004209HP:0004209Clinodactyly of the 5th finger0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0004209HP:0004209Clinodactyly of the 5th finger0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0004209HP:0004209Clinodactyly of the 5th finger0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0004209HP:0004209Clinodactyly of the 5th finger0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0004209HP:0004209Clinodactyly of the 5th finger0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0004209HP:0004209Clinodactyly of the 5th finger0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0004209HP:0004209Clinodactyly of the 5th finger0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0004209HP:0004209Clinodactyly of the 5th finger0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0004209HP:0004209Clinodactyly of the 5th finger0L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040282 - Frequent134
HP:0004209HP:0004209Clinodactyly of the 5th finger0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0004209HP:0004209Clinodactyly of the 5th finger0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0004209HP:0004209Clinodactyly of the 5th finger0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0004209HP:0004209Clinodactyly of the 5th finger0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0004209HP:0004209Clinodactyly of the 5th finger0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0004209HP:0004209Clinodactyly of the 5th finger0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0004209HP:0004209Clinodactyly of the 5th finger0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0004209HP:0004209Clinodactyly of the 5th finger0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0004209HP:0004209Clinodactyly of the 5th finger0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0004209HP:0004209Clinodactyly of the 5th finger0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0004209HP:0004209Clinodactyly of the 5th finger0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0004209HP:0004209Clinodactyly of the 5th finger0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0004209HP:0004209Clinodactyly of the 5th finger0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0004209HP:0004209Clinodactyly of the 5th finger0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent4
HP:0004209HP:0004209Clinodactyly of the 5th finger0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0004209HP:0004209Clinodactyly of the 5th finger0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0004209HP:0004209Clinodactyly of the 5th finger0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0004209HP:0004209Clinodactyly of the 5th finger0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0004209HP:0004209Clinodactyly of the 5th finger0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004209HP:0004209Clinodactyly of the 5th finger0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0004209HP:0004209Clinodactyly of the 5th finger0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0004209HP:0004209Clinodactyly of the 5th finger0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0004209HP:0004209Clinodactyly of the 5th finger0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0004209HP:0004209Clinodactyly of the 5th finger0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0004209HP:0004209Clinodactyly of the 5th finger0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0004209HP:0004209Clinodactyly of the 5th finger0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0004209HP:0004209Clinodactyly of the 5th finger0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004209HP:0004209Clinodactyly of the 5th finger0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0004209HP:0004209Clinodactyly of the 5th finger0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0004209HP:0004209Clinodactyly of the 5th finger0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0004209HP:0004209Clinodactyly of the 5th finger0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0004209HP:0004209Clinodactyly of the 5th finger0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0004209HP:0004209Clinodactyly of the 5th finger0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0004209HP:0004209Clinodactyly of the 5th finger0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0004209HP:0004209Clinodactyly of the 5th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0004209HP:0004209Clinodactyly of the 5th finger0NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040283 - Occasional22
HP:0004209HP:0004209Clinodactyly of the 5th finger0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0004209HP:0004209Clinodactyly of the 5th finger0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0004209HP:0004209Clinodactyly of the 5th finger0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0004209HP:0004209Clinodactyly of the 5th finger0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0004209HP:0004209Clinodactyly of the 5th finger0NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive.
HP:0004209HP:0004209Clinodactyly of the 5th finger0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040283 - Occasional143
HP:0004209HP:0004209Clinodactyly of the 5th finger0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0004209HP:0004209Clinodactyly of the 5th finger0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0004209HP:0004209Clinodactyly of the 5th finger0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0004209HP:0004209Clinodactyly of the 5th finger0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0004209HP:0004209Clinodactyly of the 5th finger0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0004209HP:0004209Clinodactyly of the 5th finger0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0004209HP:0004209Clinodactyly of the 5th finger0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0004209HP:0004209Clinodactyly of the 5th finger0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0004209HP:0004209Clinodactyly of the 5th finger0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0004209HP:0004209Clinodactyly of the 5th finger0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0004209HP:0004209Clinodactyly of the 5th finger0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0004209HP:0004209Clinodactyly of the 5th finger0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0004209HP:0004209Clinodactyly of the 5th finger0PAICS CL E G H106068587OMIM:619859
HP:0004209HP:0004209Clinodactyly of the 5th finger0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0004209HP:0004209Clinodactyly of the 5th finger0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0004209HP:0004209Clinodactyly of the 5th finger0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0004209HP:0004209Clinodactyly of the 5th finger0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0004209HP:0004209Clinodactyly of the 5th finger0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0004209HP:0004209Clinodactyly of the 5th finger0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0004209HP:0004209Clinodactyly of the 5th finger0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0004209HP:0004209Clinodactyly of the 5th finger0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0004209HP:0004209Clinodactyly of the 5th finger0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0004209HP:0004209Clinodactyly of the 5th finger0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0004209HP:0004209Clinodactyly of the 5th finger0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional103
HP:0004209HP:0004209Clinodactyly of the 5th finger0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0004209HP:0004209Clinodactyly of the 5th finger0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040283 - Occasional2
HP:0004209HP:0004209Clinodactyly of the 5th finger0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0004209HP:0004209Clinodactyly of the 5th finger0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0004209HP:0004209Clinodactyly of the 5th finger0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0004209HP:0004209Clinodactyly of the 5th finger0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0004209HP:0004209Clinodactyly of the 5th finger0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0004209HP:0004209Clinodactyly of the 5th finger0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0004209HP:0004209Clinodactyly of the 5th finger0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0004209HP:0004209Clinodactyly of the 5th finger0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0004209HP:0004209Clinodactyly of the 5th finger0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0004209HP:0004209Clinodactyly of the 5th finger0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0004209HP:0004209Clinodactyly of the 5th finger0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0004209HP:0004209Clinodactyly of the 5th finger0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0004209HP:0004209Clinodactyly of the 5th finger0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0004209HP:0004209Clinodactyly of the 5th finger0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0004209HP:0004209Clinodactyly of the 5th finger0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0004209HP:0004209Clinodactyly of the 5th finger0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0004209HP:0004209Clinodactyly of the 5th finger0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0004209HP:0004209Clinodactyly of the 5th finger0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0004209HP:0004209Clinodactyly of the 5th finger0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0004209HP:0004209Clinodactyly of the 5th finger0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0004209HP:0004209Clinodactyly of the 5th finger0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0004209HP:0004209Clinodactyly of the 5th finger0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0004209HP:0004209Clinodactyly of the 5th finger0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional10
HP:0004209HP:0004209Clinodactyly of the 5th finger0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0004209HP:0004209Clinodactyly of the 5th finger0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0004209HP:0004209Clinodactyly of the 5th finger0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0004209HP:0004209Clinodactyly of the 5th finger0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0004209HP:0004209Clinodactyly of the 5th finger0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0004209HP:0004209Clinodactyly of the 5th finger0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0004209HP:0004209Clinodactyly of the 5th finger0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0004209HP:0004209Clinodactyly of the 5th finger0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0004209HP:0004209Clinodactyly of the 5th finger0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0004209HP:0004209Clinodactyly of the 5th finger0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0004209HP:0004209Clinodactyly of the 5th finger0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0004209HP:0004209Clinodactyly of the 5th finger0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0004209HP:0004209Clinodactyly of the 5th finger0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0004209HP:0004209Clinodactyly of the 5th finger0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0004209HP:0004209Clinodactyly of the 5th finger0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0004209HP:0004209Clinodactyly of the 5th finger0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0004209HP:0004209Clinodactyly of the 5th finger0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004209HP:0004209Clinodactyly of the 5th finger0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0004209HP:0004209Clinodactyly of the 5th finger0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0004209HP:0004209Clinodactyly of the 5th finger0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0004209HP:0004209Clinodactyly of the 5th finger0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0004209HP:0004209Clinodactyly of the 5th finger0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0004209HP:0004209Clinodactyly of the 5th finger0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0004209HP:0004209Clinodactyly of the 5th finger0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0004209HP:0004209Clinodactyly of the 5th finger0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0004209HP:0004209Clinodactyly of the 5th finger0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0004209HP:0004209Clinodactyly of the 5th finger0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0004209HP:0004209Clinodactyly of the 5th finger0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0004209HP:0004209Clinodactyly of the 5th finger0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0004209HP:0004209Clinodactyly of the 5th finger0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0004209HP:0004209Clinodactyly of the 5th finger0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0004209HP:0004209Clinodactyly of the 5th finger0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0004209HP:0004209Clinodactyly of the 5th finger0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0004209HP:0004209Clinodactyly of the 5th finger0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0004209HP:0004209Clinodactyly of the 5th finger0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0004209HP:0004209Clinodactyly of the 5th finger0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0004209HP:0004209Clinodactyly of the 5th finger0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0004209HP:0004209Clinodactyly of the 5th finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0004209HP:0004209Clinodactyly of the 5th finger0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0004209HP:0004209Clinodactyly of the 5th finger0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0004209HP:0004209Clinodactyly of the 5th finger0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0004209HP:0004209Clinodactyly of the 5th finger0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0004209HP:0004209Clinodactyly of the 5th finger0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0004209HP:0004209Clinodactyly of the 5th finger0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0004209HP:0004209Clinodactyly of the 5th finger0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0004209HP:0004209Clinodactyly of the 5th finger0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0004209HP:0004209Clinodactyly of the 5th finger0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0004209HP:0004209Clinodactyly of the 5th finger0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0004209HP:0004209Clinodactyly of the 5th finger0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0004209HP:0004209Clinodactyly of the 5th finger0TMEM147 CL E G H1043030414OMIM:620075
HP:0004209HP:0004209Clinodactyly of the 5th finger0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040283 - Occasional214
HP:0004209HP:0004209Clinodactyly of the 5th finger0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0004209HP:0004209Clinodactyly of the 5th finger0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent18
HP:0004209HP:0004209Clinodactyly of the 5th finger0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0004209HP:0004209Clinodactyly of the 5th finger0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0004209HP:0004209Clinodactyly of the 5th finger0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBA2 CL E G H1005430661OMIM:619959
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0004209HP:0004209Clinodactyly of the 5th finger0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0004209HP:0004209Clinodactyly of the 5th finger0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0004209HP:0004209Clinodactyly of the 5th finger0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004209HP:0004209Clinodactyly of the 5th finger0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0004209HP:0004209Clinodactyly of the 5th finger0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0004209HP:0004209Clinodactyly of the 5th finger0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0004209HP:0004209Clinodactyly of the 5th finger0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0004209HP:0004209Clinodactyly of the 5th finger0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0004209HP:0004209Clinodactyly of the 5th finger0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0004209HP:0004209Clinodactyly of the 5th finger0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0004209HP:0004209Clinodactyly of the 5th finger0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0004209HP:0004209Clinodactyly of the 5th finger0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0004209HP:0004209Clinodactyly of the 5th finger0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0004209HP:0004209Clinodactyly of the 5th finger0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0004209HP:0005769Fifth finger distal phalanx clinodactyly1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68


Genes (360) :ACVR1 AFF2 AGO2 AKT1 ALDH1A2 ALG12 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1B ATG7 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GLCT BAZ1B BCL7B BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12ORF57 CANT1 CASZ1 CBL CCDC32 CCDC8 CCNQ CD96 CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHSY1 CITED2 CKAP2L CLCN3 CLIP2 CNOT2 CNOT3 COL11A1 CREBBP CRKL CSGALNACT1 CTCF CUL4B CUL7 DACT1 DEAF1 DHPS DNAJC30 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM EFNB1 EIF4A3 EIF4H ELN EMG1 EP300 ERCC4 ESCO2 EVC EVC2 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGD1 FGF10 FGF16 FGFR2 FGFR3 FKBP6 FLII FLNB FLT4 FZD2 GABRD GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H19-ICR H3-3B H4C3 HDAC4 HDAC8 HIC1 HMGA2 HNRNPH1 HNRNPR HOXA11 HOXA13 HOXD13 HSPG2 IFT122 IFT140 IFT43 IFT52 IGF1 IGF2 IHH IQSEC2 IRX5 JAG1 JUP KAT6B KAT8 KCNAB2 KCNJ2 KCNK4 KDM1A KDM4B KDM6B KDR KIF7 KLF13 KMT2A KMT2B KPTN KRAS L1CAM LEMD3 LIG4 LIMK1 LMNB2 LMX1B LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MAF MAN1B1 MAP1B MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MECOM MECP2 MEF2C MEGF8 METTL27 MIA3 MLXIPL MMP23B MRAS MYCN MYL11 NAA10 NAA20 NCF1 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NOG NONO NRAS NSD2 NSUN2 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT ORC1 ORC4 ORC6 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PCNT PDPN PHF21A PHIP PIEZO2 PIGH PIGL PIGN PIGS PIGY PITX1 PLAG1 PLK4 PLXND1 PNPLA6 POLA1 PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRR12 PTEN PTH1R PTPN11 PUF60 QRICH1 RAB18 RAB23 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RUNX2 SALL1 SATB2 SEMA3E SH3PXD2B SHANK3 SHOX SIAH1 SIK3 SIN3A SKI SLC2A10 SLC9A7 SLX4 SMARCA2 SMC1A SMC3 SMOC1 SNRPB SNRPN SOS1 SOS2 SOX6 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP STAG1 STAG2 STX1A TBC1D24 TBL2 TBX1 TBX15 TBX4 TCF20 TELO2 TFAP2A TFAP2B TGDS TMEM147 TMEM270 TP63 TRAIP TRAPPC9 TRIO TRIP13 TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR19 WDR35 WDR4 WIPI2 WNT5A XRCC2 XRCC4 XYLT1 YWHAE ZC4H2 ZFPM2 ZMYM2 ZNF292 ZNF462

Diseases (289) :OMIM:135100 ORPHA:337 ORPHA:100973 OMIM:619149 ORPHA:744 OMIM:620025 ORPHA:79324 OMIM:300373 OMIM:300990 OMIM:148050 OMIM:619467 ORPHA:251056 OMIM:135900 OMIM:619422 OMIM:619910 ORPHA:79500 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:615834 ORPHA:2725 ORPHA:709 OMIM:261540 ORPHA:904 ORPHA:568 ORPHA:2712 ORPHA:261330 ORPHA:157801 OMIM:609432 OMIM:210900 ORPHA:93396 OMIM:112600 OMIM:617877 OMIM:607932 ORPHA:93388 ORPHA:93384 OMIM:616849 OMIM:617755 OMIM:115150 OMIM:618056 ORPHA:84 ORPHA:199 OMIM:616202 ORPHA:1052 ORPHA:1777 ORPHA:1425 ORPHA:1606 ORPHA:648 OMIM:619123 ORPHA:2616 OMIM:614205 ORPHA:140952 OMIM:300707 ORPHA:1308 ORPHA:2554 OMIM:619736 ORPHA:397590 OMIM:613823 OMIM:236500 OMIM:614114 ORPHA:138 ORPHA:199318 OMIM:612001 ORPHA:363417 ORPHA:3303 ORPHA:3255 OMIM:619512 OMIM:618608 OMIM:618672 OMIM:228520 OMIM:154780 OMIM:618332 OMIM:180849 ORPHA:363611 ORPHA:85293 OMIM:273750 ORPHA:857 ORPHA:819 OMIM:618480 OMIM:617604 OMIM:608093 OMIM:618027 OMIM:609638 ORPHA:158687 ORPHA:3107 OMIM:223800 ORPHA:1520 OMIM:304110 OMIM:268305 OMIM:194050 OMIM:211180 ORPHA:1270 ORPHA:3103 ORPHA:952 OMIM:193530 OMIM:616682 ORPHA:915 OMIM:149730 OMIM:309630 ORPHA:794 OMIM:101400 OMIM:272460 OMIM:187500 OMIM:113100 ORPHA:3250 OMIM:615298 ORPHA:2710 OMIM:257850 OMIM:612474 OMIM:619503 ORPHA:373 ORPHA:2662 ORPHA:96182 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:619721 OMIM:619758 ORPHA:1001 OMIM:300882 ORPHA:531 ORPHA:94063 OMIM:620083 OMIM:620073 ORPHA:71289 OMIM:605432 OMIM:140000 ORPHA:2438 ORPHA:93406 OMIM:186000 ORPHA:1515 OMIM:266920 ORPHA:73272 OMIM:608747 OMIM:112500 OMIM:611174 ORPHA:3047 OMIM:618974 OMIM:170390 OMIM:618381 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:618505 OMIM:200990 ORPHA:319182 OMIM:605130 ORPHA:589618 ORPHA:397612 OMIM:615637 ORPHA:2466 ORPHA:235 ORPHA:99812 OMIM:619180 OMIM:161200 ORPHA:2614 OMIM:619451 ORPHA:1275 ORPHA:1272 ORPHA:397941 OMIM:614202 OMIM:618918 OMIM:618443 OMIM:616734 OMIM:257920 ORPHA:228402 OMIM:156200 OMIM:300260 OMIM:613443 OMIM:614976 OMIM:619269 ORPHA:391641 OMIM:619110 OMIM:300855 OMIM:619717 OMIM:300912 OMIM:602535 ORPHA:319675 OMIM:122470 OMIM:186500 ORPHA:466791 OMIM:619695 OMIM:618179 ORPHA:1507 OMIM:619075 ORPHA:544488 ORPHA:2750 OMIM:300997 OMIM:224690 ORPHA:329224 OMIM:618067 ORPHA:217385 OMIM:619859 ORPHA:2637 OMIM:210720 OMIM:618725 ORPHA:589905 ORPHA:376 OMIM:618010 OMIM:280000 ORPHA:2059 OMIM:618143 OMIM:616809 ORPHA:570 ORPHA:1173 OMIM:301030 ORPHA:163976 ORPHA:457284 OMIM:309500 OMIM:619143 OMIM:619539 OMIM:156400 ORPHA:508488 ORPHA:508498 OMIM:617982 OMIM:614222 OMIM:201000 OMIM:614701 ORPHA:1587 OMIM:606744 OMIM:274000 ORPHA:3320 OMIM:616975 OMIM:226960 ORPHA:2636 ORPHA:353298 OMIM:616651 OMIM:300998 ORPHA:459070 ORPHA:457395 ORPHA:1452 ORPHA:251019 ORPHA:251028 ORPHA:576283 ORPHA:137834 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:619314 OMIM:618162 OMIM:613406 ORPHA:3342 OMIM:301024 OMIM:619293 OMIM:610759 ORPHA:1106 ORPHA:1393 OMIM:117650 ORPHA:177907 OMIM:618971 ORPHA:1519 OMIM:618828 OMIM:618829 ORPHA:137605 OMIM:136140 ORPHA:502434 OMIM:301022 OMIM:220500 OMIM:260660 ORPHA:261279 OMIM:618430 ORPHA:488642 OMIM:113620 OMIM:169100 ORPHA:46627 OMIM:616145 ORPHA:1388 OMIM:620075 ORPHA:69085 ORPHA:352530 OMIM:617061 ORPHA:476126 ORPHA:77258 ORPHA:2635 OMIM:618454 OMIM:200110 OMIM:209885 OMIM:619959 ORPHA:238446 OMIM:244450 OMIM:243800 OMIM:616863 ORPHA:193 OMIM:618347 OMIM:618453 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.