Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Grandparent Node:
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Deviation of the hand or of fingers of the hand (HP:0009484)help
Parent Node:
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Abnormal 5th finger morphology (HP:0004207)help
Parent Node:
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Deviation of finger (HP:0004097)help
..Starting node
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Deviation of the 5th finger (HP:0009179)help
Term ID: 9179
Name: Deviation of the 5th finger
Synonym: Displaced little finger; Displaced pinkie finger; Displaced pinky finger; Laterally displaced fifth finger
Definition: Displacement of the 5th finger from its normal position.
Comments:
Reference: HP:0009179
Genes and Diseases:
 
       Child Nodes:
........expandClinodactyly of the 5th finger (HP:0004209) help
................... HP:0005769 Fifth finger distal phalanx clinodactyly
........expandUlnar deviation of the 5th finger (HP:0009180) help
........expandRadial deviation of the 5th finger (HP:0040020) help

 Sister Nodes: 
..expandDeviation of the 2nd finger (HP:0009468) help
..expandDeviation of the 3rd finger (HP:0009317) help
..expandDeviation of the 4th finger (HP:0009273) help
..expandDeviation of the thumb (HP:0009603) help
..expandFinger clinodactyly (HP:0040019) help
..expandOverlapping fingers (HP:0010557) help
..expandRadial deviation of finger (HP:0009466) help
..expandUlnar deviation of finger (HP:0009465) 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:0009179HP:0009179Deviation of the 5th finger0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009179HP:0009179Deviation of the 5th finger0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0009179HP:0009179Deviation of the 5th finger0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0009179HP:0009179Deviation of the 5th finger0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009179HP:0009179Deviation of the 5th finger0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0009179HP:0009179Deviation of the 5th finger0ALDH1A2 CL E G H885415472OMIM:620025
HP:0009179HP:0009179Deviation of the 5th finger0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009179HP:0009179Deviation of the 5th finger0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0009179HP:0009179Deviation of the 5th finger0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009179HP:0009179Deviation of the 5th finger0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009179HP:0009179Deviation of the 5th finger0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009179HP:0009179Deviation of the 5th finger0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0009179HP:0009179Deviation of the 5th finger0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009179HP:0009179Deviation of the 5th finger0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009179HP:0009179Deviation of the 5th finger0ATP2B1 CL E G H490814OMIM:619910
HP:0009179HP:0009179Deviation of the 5th finger0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0009179HP:0009179Deviation of the 5th finger0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009179HP:0009179Deviation of the 5th finger0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0009179HP:0009179Deviation of the 5th finger0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009179HP:0009179Deviation of the 5th finger0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0009179HP:0009179Deviation of the 5th finger0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0009179HP:0009179Deviation of the 5th finger0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009179HP:0009179Deviation of the 5th finger0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009179HP:0009179Deviation of the 5th finger0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0009179HP:0009179Deviation of the 5th finger0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0009179HP:0009179Deviation of the 5th finger0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009179HP:0009179Deviation of the 5th finger0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009179HP:0009179Deviation of the 5th finger0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009179HP:0009179Deviation of the 5th finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009179HP:0009179Deviation of the 5th finger0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0009179HP:0009179Deviation of the 5th finger0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009179HP:0009179Deviation of the 5th finger0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009179HP:0009179Deviation of the 5th finger0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009179HP:0009179Deviation of the 5th finger0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009179HP:0009179Deviation of the 5th finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009179HP:0009179Deviation of the 5th finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009179HP:0009179Deviation of the 5th finger0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009179HP:0009179Deviation of the 5th finger0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0009179HP:0009179Deviation of the 5th finger0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0009179HP:0009179Deviation of the 5th finger0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009179HP:0009179Deviation of the 5th finger0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009179HP:0009179Deviation of the 5th finger0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009179HP:0009179Deviation of the 5th finger0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009179HP:0009179Deviation of the 5th finger0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009179HP:0009179Deviation of the 5th finger0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0009179HP:0009179Deviation of the 5th finger0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0009179HP:0009179Deviation of the 5th finger0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0009179HP:0009179Deviation of the 5th finger0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0009179HP:0009179Deviation of the 5th finger0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0009179HP:0009179Deviation of the 5th finger0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009179HP:0009179Deviation of the 5th finger0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009179HP:0009179Deviation of the 5th finger0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009179HP:0009179Deviation of the 5th finger0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0009179HP:0009179Deviation of the 5th finger0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009179HP:0009179Deviation of the 5th finger0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0009179HP:0009179Deviation of the 5th finger0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0009179HP:0009179Deviation of the 5th finger0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009179HP:0009179Deviation of the 5th finger0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0009179HP:0009179Deviation of the 5th finger0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0009179HP:0009179Deviation of the 5th finger0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0009179HP:0009179Deviation of the 5th finger0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0009179HP:0009179Deviation of the 5th finger0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0009179HP:0009179Deviation of the 5th finger0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0009179HP:0009179Deviation of the 5th finger0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009179HP:0009179Deviation of the 5th finger0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0009179HP:0009179Deviation of the 5th finger0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009179HP:0009179Deviation of the 5th finger0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0009179HP:0009179Deviation of the 5th finger0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0009179HP:0009179Deviation of the 5th finger0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009179HP:0009179Deviation of the 5th finger0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0009179HP:0009179Deviation of the 5th finger0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009179HP:0009179Deviation of the 5th finger0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0009179HP:0009179Deviation of the 5th finger0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0009179HP:0009179Deviation of the 5th finger0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009179HP:0009179Deviation of the 5th finger0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009179HP:0009179Deviation of the 5th finger0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009179HP:0009179Deviation of the 5th finger0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0009179HP:0009179Deviation of the 5th finger0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009179HP:0009179Deviation of the 5th finger0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009179HP:0009179Deviation of the 5th finger0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009179HP:0009179Deviation of the 5th finger0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0009179HP:0009179Deviation of the 5th finger0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0009179HP:0009179Deviation of the 5th finger0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0009179HP:0009179Deviation of the 5th finger0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0009179HP:0009179Deviation of the 5th finger0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009179HP:0009179Deviation of the 5th finger0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009179HP:0009179Deviation of the 5th finger0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0009179HP:0009179Deviation of the 5th finger0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009179HP:0009179Deviation of the 5th finger0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0009179HP:0009179Deviation of the 5th finger0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009179HP:0009179Deviation of the 5th finger0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009179HP:0009179Deviation of the 5th finger0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0009179HP:0009179Deviation of the 5th finger0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009179HP:0009179Deviation of the 5th finger0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009179HP:0009179Deviation of the 5th finger0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009179HP:0009179Deviation of the 5th finger0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0009179HP:0009179Deviation of the 5th finger0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009179HP:0009179Deviation of the 5th finger0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0009179HP:0009179Deviation of the 5th finger0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009179HP:0009179Deviation of the 5th finger0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009179HP:0009179Deviation of the 5th finger0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009179HP:0009179Deviation of the 5th finger0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009179HP:0009179Deviation of the 5th finger0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009179HP:0009179Deviation of the 5th finger0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009179HP:0009179Deviation of the 5th finger0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009179HP:0009179Deviation of the 5th finger0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009179HP:0009179Deviation of the 5th finger0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0009179HP:0009179Deviation of the 5th finger0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009179HP:0009179Deviation of the 5th finger0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009179HP:0009179Deviation of the 5th finger0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009179HP:0009179Deviation of the 5th finger0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009179HP:0009179Deviation of the 5th finger0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009179HP:0009179Deviation of the 5th finger0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009179HP:0009179Deviation of the 5th finger0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009179HP:0009179Deviation of the 5th finger0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009179HP:0009179Deviation of the 5th finger0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009179HP:0009179Deviation of the 5th finger0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009179HP:0009179Deviation of the 5th finger0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0009179HP:0009179Deviation of the 5th finger0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009179HP:0009179Deviation of the 5th finger0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009179HP:0009179Deviation of the 5th finger0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009179HP:0009179Deviation of the 5th finger0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0009179HP:0009179Deviation of the 5th finger0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009179HP:0009179Deviation of the 5th finger0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009179HP:0009179Deviation of the 5th finger0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0009179HP:0009179Deviation of the 5th finger0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009179HP:0009179Deviation of the 5th finger0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0009179HP:0009179Deviation of the 5th finger0FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0009179HP:0009179Deviation of the 5th finger0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009179HP:0009179Deviation of the 5th finger0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0009179HP:0009179Deviation of the 5th finger0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0009179HP:0009179Deviation of the 5th finger0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0009179HP:0009179Deviation of the 5th finger0GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0009179HP:0009179Deviation of the 5th finger0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0009179HP:0009179Deviation of the 5th finger0GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangism52
HP:0009179HP:0009179Deviation of the 5th finger0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009179HP:0009179Deviation of the 5th finger0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009179HP:0009179Deviation of the 5th finger0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009179HP:0009179Deviation of the 5th finger0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009179HP:0009179Deviation of the 5th finger0GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0009179HP:0009179Deviation of the 5th finger0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009179HP:0009179Deviation of the 5th finger0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009179HP:0009179Deviation of the 5th finger0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009179HP:0009179Deviation of the 5th finger0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0009179HP:0009179Deviation of the 5th finger0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009179HP:0009179Deviation of the 5th finger0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009179HP:0009179Deviation of the 5th finger0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0009179HP:0009179Deviation of the 5th finger0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0009179HP:0009179Deviation of the 5th finger0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009179HP:0009179Deviation of the 5th finger0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009179HP:0009179Deviation of the 5th finger0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009179HP:0009179Deviation of the 5th finger0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0009179HP:0009179Deviation of the 5th finger0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009179HP:0009179Deviation of the 5th finger0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009179HP:0009179Deviation of the 5th finger0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0009179HP:0009179Deviation of the 5th finger0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0009179HP:0009179Deviation of the 5th finger0HNRNPH1 CL E G H31875041OMIM:620083
HP:0009179HP:0009179Deviation of the 5th finger0HNRNPR CL E G H102365047OMIM:620073
HP:0009179HP:0009179Deviation of the 5th finger0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0009179HP:0009179Deviation of the 5th finger0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009179HP:0009179Deviation of the 5th finger0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009179HP:0009179Deviation of the 5th finger0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009179HP:0009179Deviation of the 5th finger0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009179HP:0009179Deviation of the 5th finger0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0009179HP:0009179Deviation of the 5th finger0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0009179HP:0009179Deviation of the 5th finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009179HP:0009179Deviation of the 5th finger0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0009179HP:0009179Deviation of the 5th finger0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0009179HP:0009179Deviation of the 5th finger0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0009179HP:0009179Deviation of the 5th finger0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009179HP:0009179Deviation of the 5th finger0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009179HP:0009179Deviation of the 5th finger0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0009179HP:0009179Deviation of the 5th finger0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0009179HP:0009179Deviation of the 5th finger0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0009179HP:0009179Deviation of the 5th finger0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009179HP:0009179Deviation of the 5th finger0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009179HP:0009179Deviation of the 5th finger0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009179HP:0009179Deviation of the 5th finger0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009179HP:0009179Deviation of the 5th finger0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0009179HP:0009179Deviation of the 5th finger0JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0009179HP:0009179Deviation of the 5th finger0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0009179HP:0009179Deviation of the 5th finger0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0009179HP:0009179Deviation of the 5th finger0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009179HP:0009179Deviation of the 5th finger0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0009179HP:0009179Deviation of the 5th finger0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009179HP:0009179Deviation of the 5th finger0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009179HP:0009179Deviation of the 5th finger0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009179HP:0009179Deviation of the 5th finger0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0009179HP:0009179Deviation of the 5th finger0KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0009179HP:0009179Deviation of the 5th finger0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009179HP:0009179Deviation of the 5th finger0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0009179HP:0009179Deviation of the 5th finger0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0009179HP:0009179Deviation of the 5th finger0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009179HP:0009179Deviation of the 5th finger0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0009179HP:0009179Deviation of the 5th finger0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0009179HP:0009179Deviation of the 5th finger0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0009179HP:0009179Deviation of the 5th finger0L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0009179HP:0009179Deviation of the 5th finger0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0009179HP:0009179Deviation of the 5th finger0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0009179HP:0009179Deviation of the 5th finger0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0009179HP:0009179Deviation of the 5th finger0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009179HP:0009179Deviation of the 5th finger0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0009179HP:0009179Deviation of the 5th finger0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0009179HP:0009179Deviation of the 5th finger0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009179HP:0009179Deviation of the 5th finger0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0009179HP:0009179Deviation of the 5th finger0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0009179HP:0009179Deviation of the 5th finger0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009179HP:0009179Deviation of the 5th finger0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0009179HP:0009179Deviation of the 5th finger0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0009179HP:0009179Deviation of the 5th finger0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009179HP:0009179Deviation of the 5th finger0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009179HP:0009179Deviation of the 5th finger0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009179HP:0009179Deviation of the 5th finger0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009179HP:0009179Deviation of the 5th finger0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0009179HP:0009179Deviation of the 5th finger0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0009179HP:0009179Deviation of the 5th finger0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009179HP:0009179Deviation of the 5th finger0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0009179HP:0009179Deviation of the 5th finger0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009179HP:0009179Deviation of the 5th finger0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009179HP:0009179Deviation of the 5th finger0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009179HP:0009179Deviation of the 5th finger0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009179HP:0009179Deviation of the 5th finger0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0009179HP:0009179Deviation of the 5th finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009179HP:0009179Deviation of the 5th finger0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009179HP:0009179Deviation of the 5th finger0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009179HP:0009179Deviation of the 5th finger0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009179HP:0009179Deviation of the 5th finger0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009179HP:0009179Deviation of the 5th finger0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0009179HP:0009179Deviation of the 5th finger0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009179HP:0009179Deviation of the 5th finger0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009179HP:0009179Deviation of the 5th finger0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009179HP:0009179Deviation of the 5th finger0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009179HP:0009179Deviation of the 5th finger0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009179HP:0009179Deviation of the 5th finger0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0009179HP:0009179Deviation of the 5th finger0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0009179HP:0009179Deviation of the 5th finger0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0009179HP:0009179Deviation of the 5th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009179HP:0009179Deviation of the 5th finger0NOG CL E G H92417866ORPHA:3250Proximal symphalangism22
HP:0009179HP:0009179Deviation of the 5th finger0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0009179HP:0009179Deviation of the 5th finger0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009179HP:0009179Deviation of the 5th finger0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0009179HP:0009179Deviation of the 5th finger0NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0009179HP:0009179Deviation of the 5th finger0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0009179HP:0009179Deviation of the 5th finger0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009179HP:0009179Deviation of the 5th finger0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009179HP:0009179Deviation of the 5th finger0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009179HP:0009179Deviation of the 5th finger0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009179HP:0009179Deviation of the 5th finger0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0009179HP:0009179Deviation of the 5th finger0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0009179HP:0009179Deviation of the 5th finger0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0009179HP:0009179Deviation of the 5th finger0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0009179HP:0009179Deviation of the 5th finger0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0009179HP:0009179Deviation of the 5th finger0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0009179HP:0009179Deviation of the 5th finger0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0009179HP:0009179Deviation of the 5th finger0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0009179HP:0009179Deviation of the 5th finger0PAICS CL E G H106068587OMIM:619859
HP:0009179HP:0009179Deviation of the 5th finger0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009179HP:0009179Deviation of the 5th finger0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0009179HP:0009179Deviation of the 5th finger0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009179HP:0009179Deviation of the 5th finger0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0009179HP:0009179Deviation of the 5th finger0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009179HP:0009179Deviation of the 5th finger0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009179HP:0009179Deviation of the 5th finger0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0009179HP:0009179Deviation of the 5th finger0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009179HP:0009179Deviation of the 5th finger0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0009179HP:0009179Deviation of the 5th finger0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0009179HP:0009179Deviation of the 5th finger0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009179HP:0009179Deviation of the 5th finger0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009179HP:0009179Deviation of the 5th finger0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0009179HP:0009179Deviation of the 5th finger0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0009179HP:0009179Deviation of the 5th finger0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0009179HP:0009179Deviation of the 5th finger0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0009179HP:0009179Deviation of the 5th finger0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0009179HP:0009179Deviation of the 5th finger0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0009179HP:0009179Deviation of the 5th finger0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0009179HP:0009179Deviation of the 5th finger0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0009179HP:0009179Deviation of the 5th finger0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009179HP:0009179Deviation of the 5th finger0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0009179HP:0009179Deviation of the 5th finger0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009179HP:0009179Deviation of the 5th finger0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009179HP:0009179Deviation of the 5th finger0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0009179HP:0009179Deviation of the 5th finger0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0009179HP:0009179Deviation of the 5th finger0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0009179HP:0009179Deviation of the 5th finger0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009179HP:0009179Deviation of the 5th finger0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009179HP:0009179Deviation of the 5th finger0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009179HP:0009179Deviation of the 5th finger0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0009179HP:0009179Deviation of the 5th finger0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009179HP:0009179Deviation of the 5th finger0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009179HP:0009179Deviation of the 5th finger0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009179HP:0009179Deviation of the 5th finger0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009179HP:0009179Deviation of the 5th finger0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009179HP:0009179Deviation of the 5th finger0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0009179HP:0009179Deviation of the 5th finger0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009179HP:0009179Deviation of the 5th finger0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0009179HP:0009179Deviation of the 5th finger0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0009179HP:0009179Deviation of the 5th finger0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009179HP:0009179Deviation of the 5th finger0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0009179HP:0009179Deviation of the 5th finger0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009179HP:0009179Deviation of the 5th finger0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0009179HP:0009179Deviation of the 5th finger0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009179HP:0009179Deviation of the 5th finger0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0009179HP:0009179Deviation of the 5th finger0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009179HP:0009179Deviation of the 5th finger0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0009179HP:0009179Deviation of the 5th finger0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0009179HP:0009179Deviation of the 5th finger0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009179HP:0009179Deviation of the 5th finger0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0009179HP:0009179Deviation of the 5th finger0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009179HP:0009179Deviation of the 5th finger0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0009179HP:0009179Deviation of the 5th finger0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0009179HP:0009179Deviation of the 5th finger0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0009179HP:0009179Deviation of the 5th finger0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0009179HP:0009179Deviation of the 5th finger0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009179HP:0009179Deviation of the 5th finger0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0009179HP:0009179Deviation of the 5th finger0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0009179HP:0009179Deviation of the 5th finger0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0009179HP:0009179Deviation of the 5th finger0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0009179HP:0009179Deviation of the 5th finger0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0009179HP:0009179Deviation of the 5th finger0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0009179HP:0009179Deviation of the 5th finger0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009179HP:0009179Deviation of the 5th finger0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009179HP:0009179Deviation of the 5th finger0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009179HP:0009179Deviation of the 5th finger0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009179HP:0009179Deviation of the 5th finger0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009179HP:0009179Deviation of the 5th finger0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0009179HP:0009179Deviation of the 5th finger0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009179HP:0009179Deviation of the 5th finger0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0009179HP:0009179Deviation of the 5th finger0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009179HP:0009179Deviation of the 5th finger0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009179HP:0009179Deviation of the 5th finger0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009179HP:0009179Deviation of the 5th finger0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009179HP:0009179Deviation of the 5th finger0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009179HP:0009179Deviation of the 5th finger0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009179HP:0009179Deviation of the 5th finger0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0009179HP:0009179Deviation of the 5th finger0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0009179HP:0009179Deviation of the 5th finger0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009179HP:0009179Deviation of the 5th finger0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0009179HP:0009179Deviation of the 5th finger0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0009179HP:0009179Deviation of the 5th finger0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009179HP:0009179Deviation of the 5th finger0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0009179HP:0009179Deviation of the 5th finger0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0009179HP:0009179Deviation of the 5th finger0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009179HP:0009179Deviation of the 5th finger0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009179HP:0009179Deviation of the 5th finger0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009179HP:0009179Deviation of the 5th finger0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0009179HP:0009179Deviation of the 5th finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009179HP:0009179Deviation of the 5th finger0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0009179HP:0009179Deviation of the 5th finger0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0009179HP:0009179Deviation of the 5th finger0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0009179HP:0009179Deviation of the 5th finger0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009179HP:0009179Deviation of the 5th finger0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0009179HP:0009179Deviation of the 5th finger0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0009179HP:0009179Deviation of the 5th finger0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0009179HP:0009179Deviation of the 5th finger0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0009179HP:0009179Deviation of the 5th finger0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0009179HP:0009179Deviation of the 5th finger0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0009179HP:0009179Deviation of the 5th finger0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009179HP:0009179Deviation of the 5th finger0TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0009179HP:0009179Deviation of the 5th finger0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009179HP:0009179Deviation of the 5th finger0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009179HP:0009179Deviation of the 5th finger0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009179HP:0009179Deviation of the 5th finger0TMEM147 CL E G H1043030414OMIM:620075
HP:0009179HP:0009179Deviation of the 5th finger0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0009179HP:0009179Deviation of the 5th finger0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0009179HP:0009179Deviation of the 5th finger0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009179HP:0009179Deviation of the 5th finger0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0009179HP:0009179Deviation of the 5th finger0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0009179HP:0009179Deviation of the 5th finger0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0009179HP:0009179Deviation of the 5th finger0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0009179HP:0009179Deviation of the 5th finger0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009179HP:0009179Deviation of the 5th finger0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0009179HP:0009179Deviation of the 5th finger0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009179HP:0009179Deviation of the 5th finger0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009179HP:0009179Deviation of the 5th finger0UBA2 CL E G H1005430661OMIM:619959
HP:0009179HP:0009179Deviation of the 5th finger0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009179HP:0009179Deviation of the 5th finger0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0009179HP:0009179Deviation of the 5th finger0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009179HP:0009179Deviation of the 5th finger0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0009179HP:0009179Deviation of the 5th finger0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0009179HP:0009179Deviation of the 5th finger0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009179HP:0009179Deviation of the 5th finger0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0009179HP:0009179Deviation of the 5th finger0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0009179HP:0009179Deviation of the 5th finger0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0009179HP:0009179Deviation of the 5th finger0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0009179HP:0009179Deviation of the 5th finger0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0009179HP:0009179Deviation of the 5th finger0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009179HP:0009179Deviation of the 5th finger0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009179HP:0009179Deviation of the 5th finger0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009179HP:0009179Deviation of the 5th finger0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0009179HP:0009179Deviation of the 5th finger0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0009179HP:0009179Deviation of the 5th finger0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0009179HP:0009179Deviation of the 5th finger0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0009179HP:0009179Deviation of the 5th finger0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0009179HP:0009179Deviation of the 5th finger0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0009179HP:0009179Deviation of the 5th finger0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0009179HP:0009179Deviation of the 5th finger0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009179HP:0009179Deviation of the 5th finger0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009179HP:0009179Deviation of the 5th finger0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009179HP:0040020Radial deviation of the 5th finger1 CL E G H
HP:0009179HP:0009180Ulnar deviation of the 5th finger1 CL E G H
HP:0009179HP:0004209Clinodactyly of the 5th finger1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0009179HP:0004209Clinodactyly of the 5th finger1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0009179HP:0004209Clinodactyly of the 5th finger1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0009179HP:0004209Clinodactyly of the 5th finger1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009179HP:0004209Clinodactyly of the 5th finger1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0009179HP:0004209Clinodactyly of the 5th finger1ALDH1A2 CL E G H885415472OMIM:620025
HP:0009179HP:0004209Clinodactyly of the 5th finger1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0009179HP:0004209Clinodactyly of the 5th finger1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0009179HP:0004209Clinodactyly of the 5th finger1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009179HP:0004209Clinodactyly of the 5th finger1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009179HP:0004209Clinodactyly of the 5th finger1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009179HP:0004209Clinodactyly of the 5th finger1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0009179HP:0004209Clinodactyly of the 5th finger1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATP2B1 CL E G H490814OMIM:619910
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0009179HP:0004209Clinodactyly of the 5th finger1AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009179HP:0004209Clinodactyly of the 5th finger1B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0009179HP:0004209Clinodactyly of the 5th finger1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0009179HP:0004209Clinodactyly of the 5th finger1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0009179HP:0004209Clinodactyly of the 5th finger1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0009179HP:0004209Clinodactyly of the 5th finger1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0009179HP:0004209Clinodactyly of the 5th finger1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0009179HP:0004209Clinodactyly of the 5th finger1BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0009179HP:0004209Clinodactyly of the 5th finger1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0009179HP:0004209Clinodactyly of the 5th finger1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent13
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent90
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040283 - Occasional90
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009179HP:0004209Clinodactyly of the 5th finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0009179HP:0004209Clinodactyly of the 5th finger1BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009179HP:0004209Clinodactyly of the 5th finger1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0009179HP:0004209Clinodactyly of the 5th finger1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0009179HP:0004209Clinodactyly of the 5th finger1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0009179HP:0004209Clinodactyly of the 5th finger1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0009179HP:0004209Clinodactyly of the 5th finger1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0009179HP:0004209Clinodactyly of the 5th finger1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0009179HP:0004209Clinodactyly of the 5th finger1CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0009179HP:0004209Clinodactyly of the 5th finger1CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009179HP:0004209Clinodactyly of the 5th finger1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040283 - Occasional5
HP:0009179HP:0004209Clinodactyly of the 5th finger1CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009179HP:0004209Clinodactyly of the 5th finger1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040281 - Very frequent7
HP:0009179HP:0004209Clinodactyly of the 5th finger1CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0009179HP:0004209Clinodactyly of the 5th finger1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0009179HP:0004209Clinodactyly of the 5th finger1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0009179HP:0004209Clinodactyly of the 5th finger1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0009179HP:0004209Clinodactyly of the 5th finger1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009179HP:0004209Clinodactyly of the 5th finger1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0009179HP:0004209Clinodactyly of the 5th finger1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0009179HP:0004209Clinodactyly of the 5th finger1CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0009179HP:0004209Clinodactyly of the 5th finger1CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0009179HP:0004209Clinodactyly of the 5th finger1CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0009179HP:0004209Clinodactyly of the 5th finger1CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0009179HP:0004209Clinodactyly of the 5th finger1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009179HP:0004209Clinodactyly of the 5th finger1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0009179HP:0004209Clinodactyly of the 5th finger1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009179HP:0004209Clinodactyly of the 5th finger1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0009179HP:0004209Clinodactyly of the 5th finger1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0009179HP:0004209Clinodactyly of the 5th finger1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009179HP:0004209Clinodactyly of the 5th finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0009179HP:0004209Clinodactyly of the 5th finger1CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0009179HP:0004209Clinodactyly of the 5th finger1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0009179HP:0004209Clinodactyly of the 5th finger1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009179HP:0004209Clinodactyly of the 5th finger1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009179HP:0004209Clinodactyly of the 5th finger1CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009179HP:0004209Clinodactyly of the 5th finger1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0009179HP:0004209Clinodactyly of the 5th finger1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009179HP:0004209Clinodactyly of the 5th finger1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009179HP:0004209Clinodactyly of the 5th finger1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009179HP:0004209Clinodactyly of the 5th finger1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0009179HP:0004209Clinodactyly of the 5th finger1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0009179HP:0004209Clinodactyly of the 5th finger1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0009179HP:0004209Clinodactyly of the 5th finger1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040283 - Occasional127
HP:0009179HP:0004209Clinodactyly of the 5th finger1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0009179HP:0004209Clinodactyly of the 5th finger1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0009179HP:0004209Clinodactyly of the 5th finger1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0009179HP:0004209Clinodactyly of the 5th finger1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0009179HP:0004209Clinodactyly of the 5th finger1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009179HP:0004209Clinodactyly of the 5th finger1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009179HP:0004209Clinodactyly of the 5th finger1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional747
HP:0009179HP:0004209Clinodactyly of the 5th finger1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0009179HP:0004209Clinodactyly of the 5th finger1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0009179HP:0004209Clinodactyly of the 5th finger1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009179HP:0004209Clinodactyly of the 5th finger1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0009179HP:0004209Clinodactyly of the 5th finger1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0009179HP:0004209Clinodactyly of the 5th finger1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009179HP:0004209Clinodactyly of the 5th finger1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0009179HP:0004209Clinodactyly of the 5th finger1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009179HP:0004209Clinodactyly of the 5th finger1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0009179HP:0004209Clinodactyly of the 5th finger1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009179HP:0004209Clinodactyly of the 5th finger1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0009179HP:0004209Clinodactyly of the 5th finger1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009179HP:0004209Clinodactyly of the 5th finger1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0009179HP:0004209Clinodactyly of the 5th finger1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0009179HP:0004209Clinodactyly of the 5th finger1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0009179HP:0004209Clinodactyly of the 5th finger1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0009179HP:0004209Clinodactyly of the 5th finger1EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0009179HP:0004209Clinodactyly of the 5th finger1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent175
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009179HP:0004209Clinodactyly of the 5th finger1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent145
HP:0009179HP:0004209Clinodactyly of the 5th finger1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0009179HP:0004209Clinodactyly of the 5th finger1FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0009179HP:0004209Clinodactyly of the 5th finger1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0009179HP:0004209Clinodactyly of the 5th finger1GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0009179HP:0004209Clinodactyly of the 5th finger1GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0009179HP:0004209Clinodactyly of the 5th finger1GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0009179HP:0004209Clinodactyly of the 5th finger1GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0009179HP:0004209Clinodactyly of the 5th finger1GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040283 - Occasional52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040283 - Occasional52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009179HP:0004209Clinodactyly of the 5th finger1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0009179HP:0004209Clinodactyly of the 5th finger1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009179HP:0004209Clinodactyly of the 5th finger1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009179HP:0004209Clinodactyly of the 5th finger1GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0009179HP:0004209Clinodactyly of the 5th finger1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009179HP:0004209Clinodactyly of the 5th finger1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0009179HP:0004209Clinodactyly of the 5th finger1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009179HP:0004209Clinodactyly of the 5th finger1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0009179HP:0004209Clinodactyly of the 5th finger1GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0009179HP:0004209Clinodactyly of the 5th finger1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0009179HP:0004209Clinodactyly of the 5th finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0009179HP:0004209Clinodactyly of the 5th finger1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009179HP:0004209Clinodactyly of the 5th finger1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009179HP:0004209Clinodactyly of the 5th finger1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0009179HP:0004209Clinodactyly of the 5th finger1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0009179HP:0004209Clinodactyly of the 5th finger1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009179HP:0004209Clinodactyly of the 5th finger1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0009179HP:0004209Clinodactyly of the 5th finger1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1HNRNPH1 CL E G H31875041OMIM:620083
HP:0009179HP:0004209Clinodactyly of the 5th finger1HNRNPR CL E G H102365047OMIM:620073
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent3
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040283 - Occasional25
HP:0009179HP:0004209Clinodactyly of the 5th finger1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0009179HP:0004209Clinodactyly of the 5th finger1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0009179HP:0004209Clinodactyly of the 5th finger1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0009179HP:0004209Clinodactyly of the 5th finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009179HP:0004209Clinodactyly of the 5th finger1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0009179HP:0004209Clinodactyly of the 5th finger1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0009179HP:0004209Clinodactyly of the 5th finger1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0009179HP:0004209Clinodactyly of the 5th finger1IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0009179HP:0004209Clinodactyly of the 5th finger1IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009179HP:0004209Clinodactyly of the 5th finger1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0009179HP:0004209Clinodactyly of the 5th finger1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009179HP:0004209Clinodactyly of the 5th finger1JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0009179HP:0004209Clinodactyly of the 5th finger1JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0009179HP:0004209Clinodactyly of the 5th finger1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional222
HP:0009179HP:0004209Clinodactyly of the 5th finger1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0009179HP:0004209Clinodactyly of the 5th finger1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009179HP:0004209Clinodactyly of the 5th finger1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0009179HP:0004209Clinodactyly of the 5th finger1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0009179HP:0004209Clinodactyly of the 5th finger1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009179HP:0004209Clinodactyly of the 5th finger1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0009179HP:0004209Clinodactyly of the 5th finger1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009179HP:0004209Clinodactyly of the 5th finger1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0009179HP:0004209Clinodactyly of the 5th finger1KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0009179HP:0004209Clinodactyly of the 5th finger1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0009179HP:0004209Clinodactyly of the 5th finger1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009179HP:0004209Clinodactyly of the 5th finger1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0009179HP:0004209Clinodactyly of the 5th finger1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0009179HP:0004209Clinodactyly of the 5th finger1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009179HP:0004209Clinodactyly of the 5th finger1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0009179HP:0004209Clinodactyly of the 5th finger1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0009179HP:0004209Clinodactyly of the 5th finger1KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0009179HP:0004209Clinodactyly of the 5th finger1L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040282 - Frequent134
HP:0009179HP:0004209Clinodactyly of the 5th finger1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0009179HP:0004209Clinodactyly of the 5th finger1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0009179HP:0004209Clinodactyly of the 5th finger1LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0009179HP:0004209Clinodactyly of the 5th finger1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009179HP:0004209Clinodactyly of the 5th finger1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0009179HP:0004209Clinodactyly of the 5th finger1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0009179HP:0004209Clinodactyly of the 5th finger1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009179HP:0004209Clinodactyly of the 5th finger1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0009179HP:0004209Clinodactyly of the 5th finger1MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0009179HP:0004209Clinodactyly of the 5th finger1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009179HP:0004209Clinodactyly of the 5th finger1MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0009179HP:0004209Clinodactyly of the 5th finger1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0009179HP:0004209Clinodactyly of the 5th finger1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009179HP:0004209Clinodactyly of the 5th finger1MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent4
HP:0009179HP:0004209Clinodactyly of the 5th finger1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009179HP:0004209Clinodactyly of the 5th finger1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009179HP:0004209Clinodactyly of the 5th finger1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009179HP:0004209Clinodactyly of the 5th finger1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009179HP:0004209Clinodactyly of the 5th finger1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009179HP:0004209Clinodactyly of the 5th finger1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009179HP:0004209Clinodactyly of the 5th finger1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0009179HP:0004209Clinodactyly of the 5th finger1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009179HP:0004209Clinodactyly of the 5th finger1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0009179HP:0004209Clinodactyly of the 5th finger1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009179HP:0004209Clinodactyly of the 5th finger1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009179HP:0004209Clinodactyly of the 5th finger1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0009179HP:0004209Clinodactyly of the 5th finger1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009179HP:0004209Clinodactyly of the 5th finger1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009179HP:0004209Clinodactyly of the 5th finger1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0009179HP:0004209Clinodactyly of the 5th finger1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0009179HP:0004209Clinodactyly of the 5th finger1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009179HP:0004209Clinodactyly of the 5th finger1NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0009179HP:0004209Clinodactyly of the 5th finger1NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0009179HP:0004209Clinodactyly of the 5th finger1NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0009179HP:0004209Clinodactyly of the 5th finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009179HP:0004209Clinodactyly of the 5th finger1NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040283 - Occasional22
HP:0009179HP:0004209Clinodactyly of the 5th finger1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0009179HP:0004209Clinodactyly of the 5th finger1NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0009179HP:0004209Clinodactyly of the 5th finger1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009179HP:0004209Clinodactyly of the 5th finger1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0009179HP:0004209Clinodactyly of the 5th finger1NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive.
HP:0009179HP:0004209Clinodactyly of the 5th finger1NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040283 - Occasional143
HP:0009179HP:0004209Clinodactyly of the 5th finger1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009179HP:0004209Clinodactyly of the 5th finger1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0009179HP:0004209Clinodactyly of the 5th finger1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0009179HP:0004209Clinodactyly of the 5th finger1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009179HP:0004209Clinodactyly of the 5th finger1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0009179HP:0004209Clinodactyly of the 5th finger1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0009179HP:0004209Clinodactyly of the 5th finger1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0009179HP:0004209Clinodactyly of the 5th finger1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0009179HP:0004209Clinodactyly of the 5th finger1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0009179HP:0004209Clinodactyly of the 5th finger1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0009179HP:0004209Clinodactyly of the 5th finger1PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0009179HP:0004209Clinodactyly of the 5th finger1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0009179HP:0004209Clinodactyly of the 5th finger1PAICS CL E G H106068587OMIM:619859
HP:0009179HP:0004209Clinodactyly of the 5th finger1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0009179HP:0004209Clinodactyly of the 5th finger1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0009179HP:0004209Clinodactyly of the 5th finger1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009179HP:0004209Clinodactyly of the 5th finger1PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0009179HP:0004209Clinodactyly of the 5th finger1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009179HP:0004209Clinodactyly of the 5th finger1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009179HP:0004209Clinodactyly of the 5th finger1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009179HP:0004209Clinodactyly of the 5th finger1PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0009179HP:0004209Clinodactyly of the 5th finger1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0009179HP:0004209Clinodactyly of the 5th finger1PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0009179HP:0004209Clinodactyly of the 5th finger1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional103
HP:0009179HP:0004209Clinodactyly of the 5th finger1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009179HP:0004209Clinodactyly of the 5th finger1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040283 - Occasional2
HP:0009179HP:0004209Clinodactyly of the 5th finger1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0009179HP:0004209Clinodactyly of the 5th finger1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009179HP:0004209Clinodactyly of the 5th finger1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0009179HP:0004209Clinodactyly of the 5th finger1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009179HP:0004209Clinodactyly of the 5th finger1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009179HP:0004209Clinodactyly of the 5th finger1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0009179HP:0004209Clinodactyly of the 5th finger1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0009179HP:0004209Clinodactyly of the 5th finger1PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0009179HP:0004209Clinodactyly of the 5th finger1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0009179HP:0004209Clinodactyly of the 5th finger1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0009179HP:0004209Clinodactyly of the 5th finger1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0009179HP:0004209Clinodactyly of the 5th finger1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0009179HP:0004209Clinodactyly of the 5th finger1RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0009179HP:0004209Clinodactyly of the 5th finger1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0009179HP:0004209Clinodactyly of the 5th finger1RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0009179HP:0004209Clinodactyly of the 5th finger1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009179HP:0004209Clinodactyly of the 5th finger1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009179HP:0004209Clinodactyly of the 5th finger1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0009179HP:0004209Clinodactyly of the 5th finger1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0009179HP:0004209Clinodactyly of the 5th finger1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009179HP:0004209Clinodactyly of the 5th finger1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0009179HP:0004209Clinodactyly of the 5th finger1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0009179HP:0004209Clinodactyly of the 5th finger1RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional10
HP:0009179HP:0004209Clinodactyly of the 5th finger1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009179HP:0004209Clinodactyly of the 5th finger1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0009179HP:0004209Clinodactyly of the 5th finger1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009179HP:0004209Clinodactyly of the 5th finger1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0009179HP:0004209Clinodactyly of the 5th finger1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0009179HP:0004209Clinodactyly of the 5th finger1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009179HP:0004209Clinodactyly of the 5th finger1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0009179HP:0004209Clinodactyly of the 5th finger1RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0009179HP:0004209Clinodactyly of the 5th finger1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0009179HP:0004209Clinodactyly of the 5th finger1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0009179HP:0004209Clinodactyly of the 5th finger1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0009179HP:0004209Clinodactyly of the 5th finger1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0009179HP:0004209Clinodactyly of the 5th finger1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0009179HP:0004209Clinodactyly of the 5th finger1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0009179HP:0004209Clinodactyly of the 5th finger1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0009179HP:0004209Clinodactyly of the 5th finger1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0009179HP:0004209Clinodactyly of the 5th finger1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009179HP:0004209Clinodactyly of the 5th finger1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0009179HP:0004209Clinodactyly of the 5th finger1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009179HP:0004209Clinodactyly of the 5th finger1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009179HP:0004209Clinodactyly of the 5th finger1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009179HP:0004209Clinodactyly of the 5th finger1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0009179HP:0004209Clinodactyly of the 5th finger1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0009179HP:0004209Clinodactyly of the 5th finger1SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0009179HP:0004209Clinodactyly of the 5th finger1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0009179HP:0004209Clinodactyly of the 5th finger1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009179HP:0004209Clinodactyly of the 5th finger1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0009179HP:0004209Clinodactyly of the 5th finger1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0009179HP:0004209Clinodactyly of the 5th finger1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009179HP:0004209Clinodactyly of the 5th finger1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0009179HP:0004209Clinodactyly of the 5th finger1SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0009179HP:0004209Clinodactyly of the 5th finger1SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0009179HP:0004209Clinodactyly of the 5th finger1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0009179HP:0004209Clinodactyly of the 5th finger1SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0009179HP:0004209Clinodactyly of the 5th finger1SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0009179HP:0004209Clinodactyly of the 5th finger1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009179HP:0004209Clinodactyly of the 5th finger1SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009179HP:0004209Clinodactyly of the 5th finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0009179HP:0004209Clinodactyly of the 5th finger1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0009179HP:0004209Clinodactyly of the 5th finger1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0009179HP:0004209Clinodactyly of the 5th finger1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0009179HP:0004209Clinodactyly of the 5th finger1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0009179HP:0004209Clinodactyly of the 5th finger1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0009179HP:0004209Clinodactyly of the 5th finger1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0009179HP:0004209Clinodactyly of the 5th finger1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009179HP:0004209Clinodactyly of the 5th finger1TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0009179HP:0004209Clinodactyly of the 5th finger1TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0009179HP:0004209Clinodactyly of the 5th finger1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0009179HP:0004209Clinodactyly of the 5th finger1TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0009179HP:0004209Clinodactyly of the 5th finger1TMEM147 CL E G H1043030414OMIM:620075
HP:0009179HP:0004209Clinodactyly of the 5th finger1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040283 - Occasional214
HP:0009179HP:0004209Clinodactyly of the 5th finger1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0009179HP:0004209Clinodactyly of the 5th finger1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent18
HP:0009179HP:0004209Clinodactyly of the 5th finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0009179HP:0004209Clinodactyly of the 5th finger1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009179HP:0004209Clinodactyly of the 5th finger1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBA2 CL E G H1005430661OMIM:619959
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0009179HP:0004209Clinodactyly of the 5th finger1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009179HP:0004209Clinodactyly of the 5th finger1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0009179HP:0004209Clinodactyly of the 5th finger1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009179HP:0004209Clinodactyly of the 5th finger1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0009179HP:0004209Clinodactyly of the 5th finger1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0009179HP:0004209Clinodactyly of the 5th finger1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0009179HP:0004209Clinodactyly of the 5th finger1WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009179HP:0004209Clinodactyly of the 5th finger1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0009179HP:0004209Clinodactyly of the 5th finger1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0009179HP:0004209Clinodactyly of the 5th finger1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0009179HP:0004209Clinodactyly of the 5th finger1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0009179HP:0004209Clinodactyly of the 5th finger1YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0009179HP:0004209Clinodactyly of the 5th finger1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009179HP:0004209Clinodactyly of the 5th finger1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009179HP:0005769Fifth finger distal phalanx clinodactyly2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68


Genes (361) :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 CHST3 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 (291) :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 OMIM:143095 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 OMIM:605130 ORPHA:319182 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 OMIM:616362 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 OMIM:117650 ORPHA:1393 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.