Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the upper limb (HP:0002817)help
Parent Node:
expand
Abnormality of the hand (HP:0001155)help
..Starting node
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Deviation of the hand or of fingers of the hand (HP:0009484)help
Term ID: 9484
Name: Deviation of the hand or of fingers of the hand
Synonym: Displaced hand or fingers of the hand
Definition: Displacement of the hand or of fingers of the hand from their normal position.
Comments:
Reference: HP:0009484
Genes and Diseases:
 
       Child Nodes:
........expandUlnar deviation of the hand or of fingers of the hand (HP:0001193) help
................... HP:0009465 Ulnar deviation of finger
................... HP:0009487 Ulnar deviation of the hand
........expandDeviation of finger (HP:0004097) help
................... HP:0009179 Deviation of the 5th finger
................... HP:0009273 Deviation of the 4th finger
................... HP:0009317 Deviation of the 3rd finger
................... HP:0009465 Ulnar deviation of finger
................... HP:0009466 Radial deviation of finger
................... HP:0009468 Deviation of the 2nd finger
................... HP:0009603 Deviation of the thumb
................... HP:0010557 Overlapping fingers
................... HP:0040019 Finger clinodactyly
........expandRadial deviation of the hand or of fingers of the hand (HP:0009485) help
................... HP:0009466 Radial deviation of finger
................... HP:0009486 Radial deviation of the hand

 Sister Nodes: 
..expandAbnormal carpal morphology (HP:0001191) help
..expandAbnormal hand bone ossification (HP:0010660) help
..expandAbnormal hand cortical bone morphology (HP:0005926) help
..expandAbnormal hand diaphysis morphology (HP:0005925) help
..expandAbnormal hand epiphysis morphology (HP:0005924) help
..expandAbnormal hand metaphysis morphology (HP:0005923) help
..expandAbnormal hand morphology (HP:0005922) help
..expandAbnormal palm morphology (HP:0100871) help
..expandAbnormality of dorsoventral patterning of the limbs (HP:0100270) help
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of hand joint mobility (HP:0006256) help
..expandAbnormality of the metacarpal bones (HP:0001163) help
..expandAbnormality of the musculature of the hand (HP:0001421) help
..expandAplasia/hypoplasia involving bones of the hand (HP:0005927) help
..expandAutoamputation of digits (HP:0007460) help
..expandDecreased finger mobility (HP:0006135) help
..expandDuplication of hand bones (HP:0004275) help
..expandExostoses of hand bones (HP:0004276) help
..expandFractured hand bones (HP:0004277) help
..expandJoint contracture of the hand (HP:0009473) help
..expandOsteolytic defects of the hand bones (HP:0009699) help
..expandShort tubular bones of the hand (HP:0001248) help
..expandSplit hand (HP:0001171) help
..expandSynostosis involving bones of the hand (HP:0004278) help
..expandUlnar claw (HP:0001178) 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:0009484HP:0009484Deviation of the hand or of fingers of the hand0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALDH1A2 CL E G H885415472OMIM:620025
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATP2B1 CL E G H490814OMIM:619910
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangism52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HEATR3 CL E G H5502726087OMIM:620072
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HNRNPH1 CL E G H31875041OMIM:620083
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathy55
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LAMA5 CL E G H39116485OMIM:6200765
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LMBR1 CL E G H6432713243ORPHA:93321Radial hemimeliaHP:0040281 - Very frequent106
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 148
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NOG CL E G H92417866ORPHA:3250Proximal symphalangism22
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type53
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PAICS CL E G H106068587OMIM:619859
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PAX3 CL E G H50778617OMIM:122880Craniofacial-Deafness-Hand syndrome59
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndrome59
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PCDHGC4 CL E G H560988717OMIM:619880
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome77
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly8
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis22
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHH CL E G H646910848ORPHA:93321Radial hemimeliaHP:0040281 - Very frequent67
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndrome28
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TMEM147 CL E G H1043030414OMIM:620075
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 137
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B243
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 143
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 154
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBA2 CL E G H1005430661OMIM:619959
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009484HP:0009484Deviation of the hand or of fingers of the hand0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0004097Deviation of finger1ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0009484HP:0004097Deviation of finger1ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0009484HP:0004097Deviation of finger1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0009484HP:0004097Deviation of finger1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0009484HP:0004097Deviation of finger1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0009484HP:0004097Deviation of finger1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009484HP:0004097Deviation of finger1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0009484HP:0004097Deviation of finger1ALDH1A2 CL E G H885415472OMIM:620025
HP:0009484HP:0004097Deviation of finger1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0004097Deviation of finger1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0009484HP:0004097Deviation of finger1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0009484HP:0004097Deviation of finger1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009484HP:0004097Deviation of finger1ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0009484HP:0004097Deviation of finger1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0009484HP:0004097Deviation of finger1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009484HP:0004097Deviation of finger1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0004097Deviation of finger1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0009484HP:0004097Deviation of finger1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0004097Deviation of finger1AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009484HP:0004097Deviation of finger1ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0009484HP:0004097Deviation of finger1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009484HP:0004097Deviation of finger1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0009484HP:0004097Deviation of finger1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009484HP:0004097Deviation of finger1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0009484HP:0004097Deviation of finger1ATP2B1 CL E G H490814OMIM:619910
HP:0009484HP:0004097Deviation of finger1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0009484HP:0004097Deviation of finger1ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0009484HP:0004097Deviation of finger1ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009484HP:0004097Deviation of finger1ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0009484HP:0004097Deviation of finger1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0009484HP:0004097Deviation of finger1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0009484HP:0004097Deviation of finger1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0009484HP:0004097Deviation of finger1AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009484HP:0004097Deviation of finger1B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0009484HP:0004097Deviation of finger1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0009484HP:0004097Deviation of finger1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0009484HP:0004097Deviation of finger1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009484HP:0004097Deviation of finger1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0009484HP:0004097Deviation of finger1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009484HP:0004097Deviation of finger1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009484HP:0004097Deviation of finger1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009484HP:0004097Deviation of finger1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0009484HP:0004097Deviation of finger1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0009484HP:0004097Deviation of finger1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked7
HP:0009484HP:0004097Deviation of finger1BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0009484HP:0004097Deviation of finger1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009484HP:0004097Deviation of finger1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0009484HP:0004097Deviation of finger1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009484HP:0004097Deviation of finger1BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0009484HP:0004097Deviation of finger1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0004097Deviation of finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0004097Deviation of finger1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0009484HP:0004097Deviation of finger1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0009484HP:0004097Deviation of finger1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009484HP:0004097Deviation of finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0004097Deviation of finger1BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009484HP:0004097Deviation of finger1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0009484HP:0004097Deviation of finger1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0009484HP:0004097Deviation of finger1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0009484HP:0004097Deviation of finger1BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009484HP:0004097Deviation of finger1BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0009484HP:0004097Deviation of finger1BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009484HP:0004097Deviation of finger1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009484HP:0004097Deviation of finger1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009484HP:0004097Deviation of finger1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009484HP:0004097Deviation of finger1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0009484HP:0004097Deviation of finger1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0009484HP:0004097Deviation of finger1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0009484HP:0004097Deviation of finger1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0004097Deviation of finger1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0004097Deviation of finger1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0009484HP:0004097Deviation of finger1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0009484HP:0004097Deviation of finger1CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0009484HP:0004097Deviation of finger1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009484HP:0004097Deviation of finger1CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009484HP:0004097Deviation of finger1CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009484HP:0004097Deviation of finger1CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009484HP:0004097Deviation of finger1CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009484HP:0004097Deviation of finger1CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0009484HP:0004097Deviation of finger1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009484HP:0004097Deviation of finger1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009484HP:0004097Deviation of finger1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0009484HP:0004097Deviation of finger1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0009484HP:0004097Deviation of finger1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0009484HP:0004097Deviation of finger1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0009484HP:0004097Deviation of finger1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009484HP:0004097Deviation of finger1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0009484HP:0004097Deviation of finger1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0009484HP:0004097Deviation of finger1CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0009484HP:0004097Deviation of finger1CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0009484HP:0004097Deviation of finger1CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0009484HP:0004097Deviation of finger1CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0009484HP:0004097Deviation of finger1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009484HP:0004097Deviation of finger1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0009484HP:0004097Deviation of finger1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009484HP:0004097Deviation of finger1CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0009484HP:0004097Deviation of finger1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0009484HP:0004097Deviation of finger1CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009484HP:0004097Deviation of finger1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0009484HP:0004097Deviation of finger1CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1
HP:0009484HP:0004097Deviation of finger1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0009484HP:0004097Deviation of finger1CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0004097Deviation of finger1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0009484HP:0004097Deviation of finger1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0004097Deviation of finger1CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0009484HP:0004097Deviation of finger1CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0009484HP:0004097Deviation of finger1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0009484HP:0004097Deviation of finger1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009484HP:0004097Deviation of finger1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009484HP:0004097Deviation of finger1CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009484HP:0004097Deviation of finger1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0009484HP:0004097Deviation of finger1COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0009484HP:0004097Deviation of finger1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0009484HP:0004097Deviation of finger1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0009484HP:0004097Deviation of finger1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0009484HP:0004097Deviation of finger1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0009484HP:0004097Deviation of finger1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009484HP:0004097Deviation of finger1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009484HP:0004097Deviation of finger1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009484HP:0004097Deviation of finger1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009484HP:0004097Deviation of finger1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009484HP:0004097Deviation of finger1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0009484HP:0004097Deviation of finger1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0009484HP:0004097Deviation of finger1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0009484HP:0004097Deviation of finger1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009484HP:0004097Deviation of finger1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0009484HP:0004097Deviation of finger1CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0009484HP:0004097Deviation of finger1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0009484HP:0004097Deviation of finger1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0009484HP:0004097Deviation of finger1CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009484HP:0004097Deviation of finger1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009484HP:0004097Deviation of finger1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009484HP:0004097Deviation of finger1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009484HP:0004097Deviation of finger1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009484HP:0004097Deviation of finger1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0009484HP:0004097Deviation of finger1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0004097Deviation of finger1DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndrome48
HP:0009484HP:0004097Deviation of finger1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0009484HP:0004097Deviation of finger1DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009484HP:0004097Deviation of finger1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0009484HP:0004097Deviation of finger1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0009484HP:0004097Deviation of finger1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009484HP:0004097Deviation of finger1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0009484HP:0004097Deviation of finger1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009484HP:0004097Deviation of finger1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009484HP:0004097Deviation of finger1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009484HP:0004097Deviation of finger1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009484HP:0004097Deviation of finger1EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0009484HP:0004097Deviation of finger1EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0009484HP:0004097Deviation of finger1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009484HP:0004097Deviation of finger1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0009484HP:0004097Deviation of finger1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0004097Deviation of finger1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0004097Deviation of finger1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0009484HP:0004097Deviation of finger1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009484HP:0004097Deviation of finger1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0009484HP:0004097Deviation of finger1EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0009484HP:0004097Deviation of finger1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009484HP:0004097Deviation of finger1EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0009484HP:0004097Deviation of finger1ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009484HP:0004097Deviation of finger1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0009484HP:0004097Deviation of finger1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0009484HP:0004097Deviation of finger1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009484HP:0004097Deviation of finger1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009484HP:0004097Deviation of finger1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009484HP:0004097Deviation of finger1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009484HP:0004097Deviation of finger1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0009484HP:0004097Deviation of finger1EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0009484HP:0004097Deviation of finger1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0009484HP:0004097Deviation of finger1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0009484HP:0004097Deviation of finger1FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009484HP:0004097Deviation of finger1FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009484HP:0004097Deviation of finger1FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009484HP:0004097Deviation of finger1FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009484HP:0004097Deviation of finger1FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009484HP:0004097Deviation of finger1FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009484HP:0004097Deviation of finger1FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009484HP:0004097Deviation of finger1FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009484HP:0004097Deviation of finger1FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009484HP:0004097Deviation of finger1FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009484HP:0004097Deviation of finger1FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0009484HP:0004097Deviation of finger1FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0009484HP:0004097Deviation of finger1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0009484HP:0004097Deviation of finger1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0004097Deviation of finger1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0004097Deviation of finger1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0004097Deviation of finger1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0004097Deviation of finger1FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2175
HP:0009484HP:0004097Deviation of finger1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009484HP:0004097Deviation of finger1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0004097Deviation of finger1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0009484HP:0004097Deviation of finger1FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0009484HP:0004097Deviation of finger1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0009484HP:0004097Deviation of finger1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0009484HP:0004097Deviation of finger1FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009484HP:0004097Deviation of finger1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009484HP:0004097Deviation of finger1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0009484HP:0004097Deviation of finger1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0009484HP:0004097Deviation of finger1FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0004097Deviation of finger1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009484HP:0004097Deviation of finger1GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0009484HP:0004097Deviation of finger1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0009484HP:0004097Deviation of finger1GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0009484HP:0004097Deviation of finger1GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0009484HP:0004097Deviation of finger1GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0009484HP:0004097Deviation of finger1GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0009484HP:0004097Deviation of finger1GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0009484HP:0004097Deviation of finger1GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220ORPHA:3250Proximal symphalangism52
HP:0009484HP:0004097Deviation of finger1GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009484HP:0004097Deviation of finger1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009484HP:0004097Deviation of finger1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009484HP:0004097Deviation of finger1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009484HP:0004097Deviation of finger1GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0009484HP:0004097Deviation of finger1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0009484HP:0004097Deviation of finger1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0009484HP:0004097Deviation of finger1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009484HP:0004097Deviation of finger1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009484HP:0004097Deviation of finger1GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0009484HP:0004097Deviation of finger1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009484HP:0004097Deviation of finger1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009484HP:0004097Deviation of finger1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0009484HP:0004097Deviation of finger1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0009484HP:0004097Deviation of finger1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0009484HP:0004097Deviation of finger1H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0009484HP:0004097Deviation of finger1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0009484HP:0004097Deviation of finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009484HP:0004097Deviation of finger1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009484HP:0004097Deviation of finger1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009484HP:0004097Deviation of finger1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0009484HP:0004097Deviation of finger1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009484HP:0004097Deviation of finger1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0004097Deviation of finger1HEATR3 CL E G H5502726087OMIM:620072
HP:0009484HP:0004097Deviation of finger1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0009484HP:0004097Deviation of finger1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0009484HP:0004097Deviation of finger1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0009484HP:0004097Deviation of finger1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0009484HP:0004097Deviation of finger1HNRNPH1 CL E G H31875041OMIM:620083
HP:0009484HP:0004097Deviation of finger1HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0004097Deviation of finger1HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0009484HP:0004097Deviation of finger1HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0009484HP:0004097Deviation of finger1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009484HP:0004097Deviation of finger1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0004097Deviation of finger1HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009484HP:0004097Deviation of finger1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009484HP:0004097Deviation of finger1HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040283 - Occasional55
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0009484HP:0004097Deviation of finger1HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0009484HP:0004097Deviation of finger1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0009484HP:0004097Deviation of finger1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0009484HP:0004097Deviation of finger1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0009484HP:0004097Deviation of finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0004097Deviation of finger1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0009484HP:0004097Deviation of finger1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0009484HP:0004097Deviation of finger1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0009484HP:0004097Deviation of finger1IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009484HP:0004097Deviation of finger1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0009484HP:0004097Deviation of finger1IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies9
HP:0009484HP:0004097Deviation of finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009484HP:0004097Deviation of finger1IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0009484HP:0004097Deviation of finger1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0009484HP:0004097Deviation of finger1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0009484HP:0004097Deviation of finger1IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009484HP:0004097Deviation of finger1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0004097Deviation of finger1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009484HP:0004097Deviation of finger1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009484HP:0004097Deviation of finger1JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0009484HP:0004097Deviation of finger1JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0009484HP:0004097Deviation of finger1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0009484HP:0004097Deviation of finger1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0009484HP:0004097Deviation of finger1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009484HP:0004097Deviation of finger1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0009484HP:0004097Deviation of finger1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0009484HP:0004097Deviation of finger1KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0009484HP:0004097Deviation of finger1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0009484HP:0004097Deviation of finger1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009484HP:0004097Deviation of finger1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009484HP:0004097Deviation of finger1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0009484HP:0004097Deviation of finger1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009484HP:0004097Deviation of finger1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0009484HP:0004097Deviation of finger1KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0009484HP:0004097Deviation of finger1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0009484HP:0004097Deviation of finger1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009484HP:0004097Deviation of finger1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0009484HP:0004097Deviation of finger1KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009484HP:0004097Deviation of finger1KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0009484HP:0004097Deviation of finger1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0009484HP:0004097Deviation of finger1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009484HP:0004097Deviation of finger1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0004097Deviation of finger1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0009484HP:0004097Deviation of finger1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0009484HP:0004097Deviation of finger1KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0009484HP:0004097Deviation of finger1L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1LAMA5 CL E G H39116485OMIM:6200765
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009484HP:0004097Deviation of finger1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0009484HP:0004097Deviation of finger1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0009484HP:0004097Deviation of finger1LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0009484HP:0004097Deviation of finger1LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0009484HP:0004097Deviation of finger1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0009484HP:0004097Deviation of finger1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009484HP:0004097Deviation of finger1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0009484HP:0004097Deviation of finger1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0009484HP:0004097Deviation of finger1LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0009484HP:0004097Deviation of finger1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009484HP:0004097Deviation of finger1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0009484HP:0004097Deviation of finger1LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0009484HP:0004097Deviation of finger1MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0009484HP:0004097Deviation of finger1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009484HP:0004097Deviation of finger1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0009484HP:0004097Deviation of finger1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0009484HP:0004097Deviation of finger1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0009484HP:0004097Deviation of finger1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0009484HP:0004097Deviation of finger1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009484HP:0004097Deviation of finger1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0009484HP:0004097Deviation of finger1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0009484HP:0004097Deviation of finger1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0009484HP:0004097Deviation of finger1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009484HP:0004097Deviation of finger1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009484HP:0004097Deviation of finger1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009484HP:0004097Deviation of finger1MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0009484HP:0004097Deviation of finger1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0009484HP:0004097Deviation of finger1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009484HP:0004097Deviation of finger1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0009484HP:0004097Deviation of finger1MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0009484HP:0004097Deviation of finger1MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009484HP:0004097Deviation of finger1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009484HP:0004097Deviation of finger1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0009484HP:0004097Deviation of finger1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0009484HP:0004097Deviation of finger1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0009484HP:0004097Deviation of finger1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009484HP:0004097Deviation of finger1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0004097Deviation of finger1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0004097Deviation of finger1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0009484HP:0004097Deviation of finger1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0009484HP:0004097Deviation of finger1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009484HP:0004097Deviation of finger1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009484HP:0004097Deviation of finger1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0009484HP:0004097Deviation of finger1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009484HP:0004097Deviation of finger1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0009484HP:0004097Deviation of finger1MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0009484HP:0004097Deviation of finger1MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0009484HP:0004097Deviation of finger1MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0009484HP:0004097Deviation of finger1MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 166
HP:0009484HP:0004097Deviation of finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0009484HP:0004097Deviation of finger1MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1166
HP:0009484HP:0004097Deviation of finger1MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1166
HP:0009484HP:0004097Deviation of finger1MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0009484HP:0004097Deviation of finger1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0009484HP:0004097Deviation of finger1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0009484HP:0004097Deviation of finger1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0009484HP:0004097Deviation of finger1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0009484HP:0004097Deviation of finger1MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0009484HP:0004097Deviation of finger1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0009484HP:0004097Deviation of finger1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0009484HP:0004097Deviation of finger1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009484HP:0004097Deviation of finger1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 148
HP:0009484HP:0004097Deviation of finger1NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 148
HP:0009484HP:0004097Deviation of finger1NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0009484HP:0004097Deviation of finger1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0009484HP:0004097Deviation of finger1NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0009484HP:0004097Deviation of finger1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0009484HP:0004097Deviation of finger1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0009484HP:0004097Deviation of finger1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0009484HP:0004097Deviation of finger1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009484HP:0004097Deviation of finger1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009484HP:0004097Deviation of finger1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009484HP:0004097Deviation of finger1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009484HP:0004097Deviation of finger1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009484HP:0004097Deviation of finger1NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0004097Deviation of finger1NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0009484HP:0004097Deviation of finger1NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0009484HP:0004097Deviation of finger1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0009484HP:0004097Deviation of finger1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0004097Deviation of finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0004097Deviation of finger1NOG CL E G H92417866ORPHA:3250Proximal symphalangism22
HP:0009484HP:0004097Deviation of finger1NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009484HP:0004097Deviation of finger1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0009484HP:0004097Deviation of finger1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0009484HP:0004097Deviation of finger1NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type53
HP:0009484HP:0004097Deviation of finger1NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0009484HP:0004097Deviation of finger1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009484HP:0004097Deviation of finger1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0009484HP:0004097Deviation of finger1NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0009484HP:0004097Deviation of finger1NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0009484HP:0004097Deviation of finger1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0009484HP:0004097Deviation of finger1OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009484HP:0004097Deviation of finger1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009484HP:0004097Deviation of finger1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0009484HP:0004097Deviation of finger1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0009484HP:0004097Deviation of finger1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0009484HP:0004097Deviation of finger1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0009484HP:0004097Deviation of finger1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0009484HP:0004097Deviation of finger1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009484HP:0004097Deviation of finger1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0009484HP:0004097Deviation of finger1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0009484HP:0004097Deviation of finger1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0009484HP:0004097Deviation of finger1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0009484HP:0004097Deviation of finger1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0009484HP:0004097Deviation of finger1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009484HP:0004097Deviation of finger1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0009484HP:0004097Deviation of finger1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0009484HP:0004097Deviation of finger1PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0009484HP:0004097Deviation of finger1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0009484HP:0004097Deviation of finger1PAICS CL E G H106068587OMIM:619859
HP:0009484HP:0004097Deviation of finger1PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009484HP:0004097Deviation of finger1PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndrome59
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndrome59
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PAX3 CL E G H50778617OMIM:122880Craniofacial-Deafness-Hand syndrome.59
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PCDHGC4 CL E G H560988717OMIM:619880
HP:0009484HP:0004097Deviation of finger1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0009484HP:0004097Deviation of finger1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009484HP:0004097Deviation of finger1PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0009484HP:0004097Deviation of finger1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0009484HP:0004097Deviation of finger1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0009484HP:0004097Deviation of finger1PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009484HP:0004097Deviation of finger1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0009484HP:0004097Deviation of finger1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009484HP:0004097Deviation of finger1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0009484HP:0004097Deviation of finger1PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0009484HP:0004097Deviation of finger1PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0009484HP:0004097Deviation of finger1PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0009484HP:0004097Deviation of finger1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009484HP:0004097Deviation of finger1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0009484HP:0004097Deviation of finger1PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0009484HP:0004097Deviation of finger1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009484HP:0004097Deviation of finger1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009484HP:0004097Deviation of finger1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0009484HP:0004097Deviation of finger1PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0009484HP:0004097Deviation of finger1PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly8
HP:0009484HP:0004097Deviation of finger1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009484HP:0004097Deviation of finger1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0009484HP:0004097Deviation of finger1PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0009484HP:0004097Deviation of finger1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009484HP:0004097Deviation of finger1PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0009484HP:0004097Deviation of finger1PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0009484HP:0004097Deviation of finger1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009484HP:0004097Deviation of finger1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0009484HP:0004097Deviation of finger1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009484HP:0004097Deviation of finger1PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0009484HP:0004097Deviation of finger1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0009484HP:0004097Deviation of finger1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009484HP:0004097Deviation of finger1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0009484HP:0004097Deviation of finger1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009484HP:0004097Deviation of finger1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0009484HP:0004097Deviation of finger1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0009484HP:0004097Deviation of finger1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009484HP:0004097Deviation of finger1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0009484HP:0004097Deviation of finger1PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis22
HP:0009484HP:0004097Deviation of finger1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0009484HP:0004097Deviation of finger1PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0009484HP:0004097Deviation of finger1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0009484HP:0004097Deviation of finger1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0004097Deviation of finger1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0009484HP:0004097Deviation of finger1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009484HP:0004097Deviation of finger1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009484HP:0004097Deviation of finger1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009484HP:0004097Deviation of finger1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0009484HP:0004097Deviation of finger1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009484HP:0004097Deviation of finger1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0009484HP:0004097Deviation of finger1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0009484HP:0004097Deviation of finger1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009484HP:0004097Deviation of finger1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009484HP:0004097Deviation of finger1RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009484HP:0004097Deviation of finger1RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009484HP:0004097Deviation of finger1RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009484HP:0004097Deviation of finger1RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0009484HP:0004097Deviation of finger1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009484HP:0004097Deviation of finger1RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0009484HP:0004097Deviation of finger1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0009484HP:0004097Deviation of finger1RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0009484HP:0004097Deviation of finger1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0004097Deviation of finger1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0004097Deviation of finger1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0004097Deviation of finger1RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0009484HP:0004097Deviation of finger1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009484HP:0004097Deviation of finger1REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0009484HP:0004097Deviation of finger1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009484HP:0004097Deviation of finger1RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0009484HP:0004097Deviation of finger1RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0009484HP:0004097Deviation of finger1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009484HP:0004097Deviation of finger1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0009484HP:0004097Deviation of finger1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0009484HP:0004097Deviation of finger1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009484HP:0004097Deviation of finger1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0009484HP:0004097Deviation of finger1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009484HP:0004097Deviation of finger1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009484HP:0004097Deviation of finger1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0009484HP:0004097Deviation of finger1RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0009484HP:0004097Deviation of finger1RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0009484HP:0004097Deviation of finger1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0009484HP:0004097Deviation of finger1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0009484HP:0004097Deviation of finger1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009484HP:0004097Deviation of finger1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009484HP:0004097Deviation of finger1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0009484HP:0004097Deviation of finger1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0009484HP:0004097Deviation of finger1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0009484HP:0004097Deviation of finger1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0009484HP:0004097Deviation of finger1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0009484HP:0004097Deviation of finger1SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0009484HP:0004097Deviation of finger1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0009484HP:0004097Deviation of finger1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0009484HP:0004097Deviation of finger1SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0009484HP:0004097Deviation of finger1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0009484HP:0004097Deviation of finger1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009484HP:0004097Deviation of finger1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009484HP:0004097Deviation of finger1SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0009484HP:0004097Deviation of finger1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009484HP:0004097Deviation of finger1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009484HP:0004097Deviation of finger1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009484HP:0004097Deviation of finger1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0004097Deviation of finger1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0004097Deviation of finger1SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0009484HP:0004097Deviation of finger1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0004097Deviation of finger1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0004097Deviation of finger1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0004097Deviation of finger1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0009484HP:0004097Deviation of finger1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009484HP:0004097Deviation of finger1SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0009484HP:0004097Deviation of finger1SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009484HP:0004097Deviation of finger1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0009484HP:0004097Deviation of finger1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009484HP:0004097Deviation of finger1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009484HP:0004097Deviation of finger1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0009484HP:0004097Deviation of finger1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009484HP:0004097Deviation of finger1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0004097Deviation of finger1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0009484HP:0004097Deviation of finger1SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0009484HP:0004097Deviation of finger1SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0009484HP:0004097Deviation of finger1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009484HP:0004097Deviation of finger1SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0009484HP:0004097Deviation of finger1SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0009484HP:0004097Deviation of finger1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0009484HP:0004097Deviation of finger1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009484HP:0004097Deviation of finger1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0009484HP:0004097Deviation of finger1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0009484HP:0004097Deviation of finger1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009484HP:0004097Deviation of finger1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009484HP:0004097Deviation of finger1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009484HP:0004097Deviation of finger1SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0009484HP:0004097Deviation of finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009484HP:0004097Deviation of finger1STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0009484HP:0004097Deviation of finger1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0009484HP:0004097Deviation of finger1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0009484HP:0004097Deviation of finger1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009484HP:0004097Deviation of finger1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0009484HP:0004097Deviation of finger1TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0009484HP:0004097Deviation of finger1TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0009484HP:0004097Deviation of finger1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndrome28
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndrome28
HP:0009484HP:0004097Deviation of finger1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0009484HP:0004097Deviation of finger1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009484HP:0004097Deviation of finger1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0009484HP:0004097Deviation of finger1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0009484HP:0004097Deviation of finger1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0009484HP:0004097Deviation of finger1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0009484HP:0004097Deviation of finger1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009484HP:0004097Deviation of finger1TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0009484HP:0004097Deviation of finger1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009484HP:0004097Deviation of finger1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0004097Deviation of finger1TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0004097Deviation of finger1TMEM147 CL E G H1043030414OMIM:620075
HP:0009484HP:0004097Deviation of finger1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0009484HP:0004097Deviation of finger1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 137
HP:0009484HP:0004097Deviation of finger1TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 137
HP:0009484HP:0004097Deviation of finger1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0009484HP:0004097Deviation of finger1TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B243
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 143
HP:0009484HP:0004097Deviation of finger1TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 143
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0009484HP:0004097Deviation of finger1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0009484HP:0004097Deviation of finger1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0009484HP:0004097Deviation of finger1TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0009484HP:0004097Deviation of finger1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0009484HP:0004097Deviation of finger1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 154
HP:0009484HP:0004097Deviation of finger1TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 154
HP:0009484HP:0004097Deviation of finger1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0009484HP:0004097Deviation of finger1TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0009484HP:0004097Deviation of finger1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0009484HP:0004097Deviation of finger1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009484HP:0004097Deviation of finger1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0009484HP:0004097Deviation of finger1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0009484HP:0004097Deviation of finger1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0009484HP:0004097Deviation of finger1TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0009484HP:0004097Deviation of finger1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0009484HP:0004097Deviation of finger1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0009484HP:0004097Deviation of finger1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0009484HP:0004097Deviation of finger1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0009484HP:0004097Deviation of finger1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009484HP:0004097Deviation of finger1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009484HP:0004097Deviation of finger1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009484HP:0004097Deviation of finger1UBA2 CL E G H1005430661OMIM:619959
HP:0009484HP:0004097Deviation of finger1UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009484HP:0004097Deviation of finger1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0009484HP:0004097Deviation of finger1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009484HP:0004097Deviation of finger1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0009484HP:0004097Deviation of finger1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0009484HP:0004097Deviation of finger1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009484HP:0004097Deviation of finger1VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0009484HP:0004097Deviation of finger1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0009484HP:0004097Deviation of finger1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0009484HP:0004097Deviation of finger1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0009484HP:0004097Deviation of finger1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0009484HP:0004097Deviation of finger1WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009484HP:0004097Deviation of finger1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009484HP:0004097Deviation of finger1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009484HP:0004097Deviation of finger1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009484HP:0004097Deviation of finger1XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009484HP:0004097Deviation of finger1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0009484HP:0004097Deviation of finger1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0009484HP:0004097Deviation of finger1YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0009484HP:0004097Deviation of finger1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0009484HP:0004097Deviation of finger1YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome5
HP:0009484HP:0004097Deviation of finger1ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0009484HP:0004097Deviation of finger1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0009484HP:0009485Radial deviation of the hand or of fingers of the hand1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0009484HP:0001193Ulnar deviation of the hand or of fingers of the hand1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0009484HP:0004097Deviation of finger1ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0009484HP:0004097Deviation of finger1ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0009484HP:0004097Deviation of finger1ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009484HP:0004097Deviation of finger1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009484HP:0004097Deviation of finger1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009484HP:0004097Deviation of finger1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0040019Finger clinodactyly2ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0009484HP:0009273Deviation of the 4th finger2ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0009484HP:0040019Finger clinodactyly2ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0009484HP:0040019Finger clinodactyly2ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009484HP:0040019Finger clinodactyly2ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0009484HP:0009179Deviation of the 5th finger2ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0009484HP:0009179Deviation of the 5th finger2ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0009484HP:0009487Ulnar deviation of the hand2ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0009484HP:0009179Deviation of the 5th finger2AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0009484HP:0040019Finger clinodactyly2AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0009484HP:0040019Finger clinodactyly2AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009484HP:0009179Deviation of the 5th finger2AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009484HP:0040019Finger clinodactyly2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0009484HP:0009179Deviation of the 5th finger2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0009484HP:0040019Finger clinodactyly2ALDH1A2 CL E G H885415472OMIM:620025
HP:0009484HP:0009179Deviation of the 5th finger2ALDH1A2 CL E G H885415472OMIM:620025
HP:0009484HP:0010557Overlapping fingers2ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0009484HP:0009179Deviation of the 5th finger2ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009484HP:0009603Deviation of the thumb2ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009484HP:0040019Finger clinodactyly2ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0009484HP:0009487Ulnar deviation of the hand2ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0009484HP:0009466Radial deviation of finger2ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0009603Deviation of the thumb2ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0009487Ulnar deviation of the hand2ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0009484HP:0040019Finger clinodactyly2ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0009484HP:0009466Radial deviation of finger2ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0009484HP:0040019Finger clinodactyly2ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0009484HP:0009179Deviation of the 5th finger2AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0009484HP:0040019Finger clinodactyly2AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0009484HP:0009179Deviation of the 5th finger2AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009484HP:0040019Finger clinodactyly2AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009484HP:0009603Deviation of the thumb2ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0009484HP:0040019Finger clinodactyly2ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0009484HP:0009468Deviation of the 2nd finger2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0040019Finger clinodactyly2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0009465Ulnar deviation of finger2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0009179Deviation of the 5th finger2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0009466Radial deviation of finger2ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0009484HP:0009179Deviation of the 5th finger2AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009484HP:0040019Finger clinodactyly2AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009484HP:0009179Deviation of the 5th finger2ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0009484HP:0040019Finger clinodactyly2ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0009484HP:0040019Finger clinodactyly2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009484HP:0009179Deviation of the 5th finger2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009484HP:0009466Radial deviation of finger2ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0009484HP:0009487Ulnar deviation of the hand2ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0009484HP:0040019Finger clinodactyly2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009484HP:0009179Deviation of the 5th finger2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009484HP:0010557Overlapping fingers2ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0009484HP:0040019Finger clinodactyly2ATP2B1 CL E G H490814OMIM:619910
HP:0009484HP:0009179Deviation of the 5th finger2ATP2B1 CL E G H490814OMIM:619910
HP:0009484HP:0009179Deviation of the 5th finger2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0009484HP:0040019Finger clinodactyly2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0009484HP:0040019Finger clinodactyly2ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0009484HP:0009179Deviation of the 5th finger2ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0009484HP:0009179Deviation of the 5th finger2ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009484HP:0040019Finger clinodactyly2ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0009484HP:0040019Finger clinodactyly2ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0009484HP:0040019Finger clinodactyly2ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0009484HP:0009179Deviation of the 5th finger2ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0009484HP:0009466Radial deviation of finger2ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0009484HP:0009466Radial deviation of finger2ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0009484HP:0009179Deviation of the 5th finger2AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009484HP:0040019Finger clinodactyly2AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009484HP:0040019Finger clinodactyly2B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0009484HP:0009179Deviation of the 5th finger2B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0009484HP:0009465Ulnar deviation of finger2B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0009484HP:0009179Deviation of the 5th finger2B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0009484HP:0040019Finger clinodactyly2B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0009484HP:0009179Deviation of the 5th finger2B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009484HP:0009603Deviation of the thumb2B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009484HP:0040019Finger clinodactyly2B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0009484HP:0009487Ulnar deviation of the hand2B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009484HP:0009603Deviation of the thumb2BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0009484HP:0009179Deviation of the 5th finger2BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0009484HP:0009466Radial deviation of finger2BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0009484HP:0009179Deviation of the 5th finger2BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009484HP:0040019Finger clinodactyly2BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009484HP:0009466Radial deviation of finger2BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0009484HP:0040019Finger clinodactyly2BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0009484HP:0009179Deviation of the 5th finger2BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0009484HP:0009465Ulnar deviation of finger2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0009484HP:0040019Finger clinodactyly2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009484HP:0009179Deviation of the 5th finger2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0009484HP:0009486Radial deviation of the hand2BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0009484HP:0009179Deviation of the 5th finger2BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0009484HP:0040019Finger clinodactyly2BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reduction4
HP:0009484HP:0009179Deviation of the 5th finger2BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009484HP:0040019Finger clinodactyly2BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009484HP:0010557Overlapping fingers2BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0009484HP:0009179Deviation of the 5th finger2BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009484HP:0040019Finger clinodactyly2BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009484HP:0010557Overlapping fingers2BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0009484HP:0009179Deviation of the 5th finger2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009484HP:0040019Finger clinodactyly2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009484HP:0009179Deviation of the 5th finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0040019Finger clinodactyly2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009466Radial deviation of finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009465Ulnar deviation of finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009468Deviation of the 2nd finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009179Deviation of the 5th finger2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0009484HP:0040019Finger clinodactyly2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0009484HP:0009603Deviation of the thumb2BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0009484HP:0040019Finger clinodactyly2BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009484HP:0009179Deviation of the 5th finger2BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009484HP:0009466Radial deviation of finger2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0009484HP:0040019Finger clinodactyly2BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009484HP:0009179Deviation of the 5th finger2BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0009484HP:0009179Deviation of the 5th finger2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009484HP:0040019Finger clinodactyly2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009484HP:0040019Finger clinodactyly2BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009484HP:0009179Deviation of the 5th finger2BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009484HP:0009465Ulnar deviation of finger2BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent90
HP:0009484HP:0009179Deviation of the 5th finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009484HP:0040019Finger clinodactyly2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009484HP:0040019Finger clinodactyly2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009179Deviation of the 5th finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009466Radial deviation of finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009468Deviation of the 2nd finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009465Ulnar deviation of finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0009179Deviation of the 5th finger2BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009484HP:0040019Finger clinodactyly2BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009484HP:0040019Finger clinodactyly2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0009484HP:0009179Deviation of the 5th finger2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0009484HP:0009466Radial deviation of finger2BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0009484HP:0009179Deviation of the 5th finger2BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0009484HP:0040019Finger clinodactyly2BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0009484HP:0040019Finger clinodactyly2BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009484HP:0009179Deviation of the 5th finger2BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0009484HP:0009603Deviation of the thumb2BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0009484HP:0009179Deviation of the 5th finger2BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009484HP:0040019Finger clinodactyly2BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0009484HP:0040019Finger clinodactyly2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009484HP:0009179Deviation of the 5th finger2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009484HP:0009603Deviation of the thumb2BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0009484HP:0009179Deviation of the 5th finger2BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009484HP:0040019Finger clinodactyly2BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009484HP:0009179Deviation of the 5th finger2BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009484HP:0040019Finger clinodactyly2BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0009484HP:0040019Finger clinodactyly2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0009484HP:0009179Deviation of the 5th finger2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0009484HP:0040019Finger clinodactyly2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0009484HP:0009179Deviation of the 5th finger2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0009484HP:0040019Finger clinodactyly2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0009484HP:0009179Deviation of the 5th finger2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0009484HP:0040019Finger clinodactyly2BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0009484HP:0040019Finger clinodactyly2C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0009484HP:0009468Deviation of the 2nd finger2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0009466Radial deviation of finger2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0009179Deviation of the 5th finger2CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0009484HP:0040019Finger clinodactyly2CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0009484HP:0009179Deviation of the 5th finger2CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0009484HP:0040019Finger clinodactyly2CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0009484HP:0040019Finger clinodactyly2CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0009484HP:0009179Deviation of the 5th finger2CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0009484HP:0009466Radial deviation of finger2CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0009484HP:0009179Deviation of the 5th finger2CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009484HP:0040019Finger clinodactyly2CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009484HP:0040019Finger clinodactyly2CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009484HP:0009179Deviation of the 5th finger2CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0009484HP:0040019Finger clinodactyly2CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009484HP:0009179Deviation of the 5th finger2CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009484HP:0009179Deviation of the 5th finger2CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009484HP:0040019Finger clinodactyly2CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0009484HP:0040019Finger clinodactyly2CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0009484HP:0009179Deviation of the 5th finger2CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0009484HP:0009179Deviation of the 5th finger2CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009484HP:0040019Finger clinodactyly2CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009484HP:0009465Ulnar deviation of finger2CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0009484HP:0009466Radial deviation of finger2CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0009484HP:0009603Deviation of the thumb2CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0009484HP:0009603Deviation of the thumb2CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0009484HP:0040019Finger clinodactyly2CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0009484HP:0040019Finger clinodactyly2CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0009484HP:0009179Deviation of the 5th finger2CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0009484HP:0040019Finger clinodactyly2CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009484HP:0009179Deviation of the 5th finger2CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009484HP:0040019Finger clinodactyly2CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0009484HP:0009179Deviation of the 5th finger2CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0009484HP:0009179Deviation of the 5th finger2CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0009484HP:0040019Finger clinodactyly2CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0009484HP:0040019Finger clinodactyly2CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0009484HP:0009179Deviation of the 5th finger2CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0009484HP:0040019Finger clinodactyly2CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0009484HP:0009179Deviation of the 5th finger2CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0009484HP:0009179Deviation of the 5th finger2CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0009484HP:0040019Finger clinodactyly2CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0009484HP:0009179Deviation of the 5th finger2CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0009484HP:0040019Finger clinodactyly2CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0009484HP:0009179Deviation of the 5th finger2CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009484HP:0040019Finger clinodactyly2CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009484HP:0040019Finger clinodactyly2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0009484HP:0009179Deviation of the 5th finger2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0009484HP:0040019Finger clinodactyly2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009484HP:0009179Deviation of the 5th finger2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009484HP:0009179Deviation of the 5th finger2CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0009484HP:0040019Finger clinodactyly2CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0009484HP:0009179Deviation of the 5th finger2CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0009484HP:0040019Finger clinodactyly2CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0009484HP:0009179Deviation of the 5th finger2CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009484HP:0040019Finger clinodactyly2CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009484HP:0009465Ulnar deviation of finger2CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0009484HP:0010557Overlapping fingers2CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0009484HP:0009179Deviation of the 5th finger2CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0009484HP:0009603Deviation of the thumb2CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009466Radial deviation of finger2CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009466Radial deviation of finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0009484HP:0009468Deviation of the 2nd finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0040019Finger clinodactyly2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009179Deviation of the 5th finger2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0009603Deviation of the thumb2CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0009466Radial deviation of finger2CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0009487Ulnar deviation of the hand2CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0009484HP:0009179Deviation of the 5th finger2CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0009484HP:0040019Finger clinodactyly2CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0009484HP:0040019Finger clinodactyly2CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0009484HP:0009179Deviation of the 5th finger2CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0009484HP:0040019Finger clinodactyly2CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0009484HP:0009179Deviation of the 5th finger2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009484HP:0040019Finger clinodactyly2CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009484HP:0040019Finger clinodactyly2CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009484HP:0040019Finger clinodactyly2CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009484HP:0009179Deviation of the 5th finger2CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009484HP:0040019Finger clinodactyly2CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009484HP:0010557Overlapping fingers2CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0009484HP:0040019Finger clinodactyly2COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0009484HP:0010557Overlapping fingers2COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0009484HP:0040019Finger clinodactyly2COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0009484HP:0009179Deviation of the 5th finger2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0009484HP:0040019Finger clinodactyly2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0009484HP:0009273Deviation of the 4th finger2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0040019Finger clinodactyly2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0009179Deviation of the 5th finger2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0009487Ulnar deviation of the hand2COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009486Radial deviation of the hand2COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009486Radial deviation of the hand2COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009487Ulnar deviation of the hand2COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0009484HP:0009486Radial deviation of the hand2COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0009484HP:0009487Ulnar deviation of the hand2COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0009484HP:0009487Ulnar deviation of the hand2COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0009484HP:0040019Finger clinodactyly2CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0009484HP:0009466Radial deviation of finger2CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0009484HP:0009179Deviation of the 5th finger2CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009484HP:0040019Finger clinodactyly2CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009484HP:0009179Deviation of the 5th finger2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009484HP:0040019Finger clinodactyly2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009484HP:0009603Deviation of the thumb2CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0009484HP:0009179Deviation of the 5th finger2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009484HP:0009465Ulnar deviation of finger2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0009484HP:0040019Finger clinodactyly2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0009484HP:0009466Radial deviation of finger2CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0009484HP:0009179Deviation of the 5th finger2CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0009484HP:0040019Finger clinodactyly2CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0009484HP:0040019Finger clinodactyly2CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009484HP:0009468Deviation of the 2nd finger2CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009484HP:0040019Finger clinodactyly2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0009484HP:0009179Deviation of the 5th finger2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0009484HP:0010557Overlapping fingers2CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0009484HP:0040019Finger clinodactyly2CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0009484HP:0009179Deviation of the 5th finger2CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0009484HP:0040019Finger clinodactyly2CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0009484HP:0009179Deviation of the 5th finger2CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0009484HP:0040019Finger clinodactyly2CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009484HP:0009179Deviation of the 5th finger2CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0009484HP:0040019Finger clinodactyly2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009484HP:0009465Ulnar deviation of finger2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0009484HP:0040019Finger clinodactyly2DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009484HP:0009179Deviation of the 5th finger2DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009484HP:0009603Deviation of the thumb2DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009484HP:0009603Deviation of the thumb2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009484HP:0009465Ulnar deviation of finger2DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0009484HP:0040019Finger clinodactyly2DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0009484HP:0009179Deviation of the 5th finger2DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0009484HP:0009317Deviation of the 3rd finger2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0040019Finger clinodactyly2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0040019Finger clinodactyly2DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040283 - Occasional48
HP:0009484HP:0040019Finger clinodactyly2DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0009484HP:0010557Overlapping fingers2DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0009484HP:0009179Deviation of the 5th finger2DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009484HP:0040019Finger clinodactyly2DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0009484HP:0040019Finger clinodactyly2DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0009484HP:0009179Deviation of the 5th finger2DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0009484HP:0009179Deviation of the 5th finger2DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009484HP:0040019Finger clinodactyly2DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009484HP:0009487Ulnar deviation of the hand2DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0009484HP:0040019Finger clinodactyly2DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009484HP:0009179Deviation of the 5th finger2DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009484HP:0009179Deviation of the 5th finger2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0009484HP:0040019Finger clinodactyly2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0009484HP:0009179Deviation of the 5th finger2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009484HP:0040019Finger clinodactyly2DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009484HP:0009466Radial deviation of finger2DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0009484HP:0009179Deviation of the 5th finger2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009484HP:0040019Finger clinodactyly2DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009484HP:0009179Deviation of the 5th finger2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009484HP:0040019Finger clinodactyly2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009484HP:0010557Overlapping fingers2EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0009484HP:0010557Overlapping fingers2EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0009484HP:0009179Deviation of the 5th finger2EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009484HP:0040019Finger clinodactyly2EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009484HP:0009179Deviation of the 5th finger2EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0009484HP:0040019Finger clinodactyly2EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0009484HP:0009603Deviation of the thumb2EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009484HP:0009179Deviation of the 5th finger2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0040019Finger clinodactyly2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0009603Deviation of the thumb2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0009484HP:0009486Radial deviation of the hand2EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009484HP:0040019Finger clinodactyly2EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0009484HP:0009179Deviation of the 5th finger2ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0009484HP:0040019Finger clinodactyly2ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009484HP:0009179Deviation of the 5th finger2ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009484HP:0040019Finger clinodactyly2EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome2
HP:0009484HP:0040019Finger clinodactyly2EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009484HP:0040019Finger clinodactyly2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009484HP:0040019Finger clinodactyly2EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0009484HP:0040019Finger clinodactyly2ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009484HP:0009179Deviation of the 5th finger2ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0009484HP:0009603Deviation of the thumb2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0009466Radial deviation of finger2ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0009484HP:0009179Deviation of the 5th finger2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0009466Radial deviation of finger2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009484HP:0040019Finger clinodactyly2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009484HP:0010557Overlapping fingers2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0009484HP:0009179Deviation of the 5th finger2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009484HP:0040019Finger clinodactyly2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009484HP:0009179Deviation of the 5th finger2EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009484HP:0040019Finger clinodactyly2EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009484HP:0009179Deviation of the 5th finger2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009484HP:0010557Overlapping fingers2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0009484HP:0040019Finger clinodactyly2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009484HP:0009179Deviation of the 5th finger2EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009484HP:0040019Finger clinodactyly2EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009484HP:0009465Ulnar deviation of finger2EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0009484HP:0040019Finger clinodactyly2EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0009484HP:0009179Deviation of the 5th finger2EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0009484HP:0009466Radial deviation of finger2EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0009484HP:0040019Finger clinodactyly2FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0009484HP:0009179Deviation of the 5th finger2FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009484HP:0040019Finger clinodactyly2FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0009484HP:0040019Finger clinodactyly2FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009484HP:0009179Deviation of the 5th finger2FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0009484HP:0009603Deviation of the thumb2FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009484HP:0040019Finger clinodactyly2FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009484HP:0009179Deviation of the 5th finger2FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0009484HP:0040019Finger clinodactyly2FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009484HP:0009179Deviation of the 5th finger2FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0009484HP:0009179Deviation of the 5th finger2FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009484HP:0040019Finger clinodactyly2FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0009484HP:0009179Deviation of the 5th finger2FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009484HP:0040019Finger clinodactyly2FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0009484HP:0040019Finger clinodactyly2FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009484HP:0009179Deviation of the 5th finger2FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0009484HP:0009179Deviation of the 5th finger2FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009484HP:0040019Finger clinodactyly2FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0009484HP:0040019Finger clinodactyly2FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009484HP:0009179Deviation of the 5th finger2FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0009484HP:0040019Finger clinodactyly2FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009484HP:0009179Deviation of the 5th finger2FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0009484HP:0009465Ulnar deviation of finger2FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0009484HP:0040019Finger clinodactyly2FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0009484HP:0009179Deviation of the 5th finger2FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0009484HP:0009466Radial deviation of finger2FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0009484HP:0009179Deviation of the 5th finger2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0009466Radial deviation of finger2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0040019Finger clinodactyly2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0009317Deviation of the 3rd finger2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009484HP:0040019Finger clinodactyly2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009484HP:0009179Deviation of the 5th finger2FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009484HP:0009179Deviation of the 5th finger2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0009466Radial deviation of finger2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0009317Deviation of the 3rd finger2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0040019Finger clinodactyly2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009484HP:0009603Deviation of the thumb2FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0009484HP:0040019Finger clinodactyly2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009484HP:0009179Deviation of the 5th finger2FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0009484HP:0009179Deviation of the 5th finger2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009484HP:0040019Finger clinodactyly2FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0009484HP:0009179Deviation of the 5th finger2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0009466Radial deviation of finger2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0040019Finger clinodactyly2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0009317Deviation of the 3rd finger2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009484HP:0009466Radial deviation of finger2FGFR3 CL E G H22613690OMIM:602849Muenke syndrome.145
HP:0009484HP:0009179Deviation of the 5th finger2FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0009484HP:0040019Finger clinodactyly2FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0009484HP:0009179Deviation of the 5th finger2FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009484HP:0009179Deviation of the 5th finger2FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009484HP:0009487Ulnar deviation of the hand2FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0009484HP:0009603Deviation of the thumb2FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1493
HP:0009484HP:0009466Radial deviation of finger2FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009484HP:0009468Deviation of the 2nd finger2FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009484HP:0010557Overlapping fingers2FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0009484HP:0009603Deviation of the thumb2FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0009484HP:0009466Radial deviation of finger2FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0009484HP:0040019Finger clinodactyly2FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0009484HP:0009179Deviation of the 5th finger2FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0009484HP:0009179Deviation of the 5th finger2FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0040019Finger clinodactyly2FLT4 CL E G H23243767ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0009179Deviation of the 5th finger2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009484HP:0040019Finger clinodactyly2FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009484HP:0009179Deviation of the 5th finger2GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0009484HP:0040019Finger clinodactyly2GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0009484HP:0009603Deviation of the thumb2GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0009484HP:0040019Finger clinodactyly2GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0009484HP:0040019Finger clinodactyly2GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0009484HP:0009179Deviation of the 5th finger2GATA4 CL E G H26264173ORPHA:3303Tetralogy of Fallot87
HP:0009484HP:0009179Deviation of the 5th finger2GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot87
HP:0009484HP:0040019Finger clinodactyly2GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0009484HP:0009179Deviation of the 5th finger2GATA5 CL E G H14062815802ORPHA:3303Tetralogy of Fallot10
HP:0009484HP:0009179Deviation of the 5th finger2GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0009484HP:0009179Deviation of the 5th finger2GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0009484HP:0040019Finger clinodactyly2GATA6 CL E G H26274174ORPHA:3303Tetralogy of Fallot37
HP:0009484HP:0040019Finger clinodactyly2GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot37
HP:0009484HP:0009179Deviation of the 5th finger2GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0009484HP:0040019Finger clinodactyly2GDF1 CL E G H26574214ORPHA:3303Tetralogy of Fallot28
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A152
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009484HP:0009465Ulnar deviation of finger2GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent52
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009484HP:0009468Deviation of the 2nd finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009466Radial deviation of finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009465Ulnar deviation of finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009468Deviation of the 2nd finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0009465Ulnar deviation of finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0009317Deviation of the 3rd finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040282 - Frequent52
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220ORPHA:3250Proximal symphalangism52
HP:0009484HP:0009179Deviation of the 5th finger2GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009484HP:0040019Finger clinodactyly2GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009484HP:0040019Finger clinodactyly2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009484HP:0009179Deviation of the 5th finger2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009484HP:0009179Deviation of the 5th finger2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009484HP:0040019Finger clinodactyly2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009484HP:0040019Finger clinodactyly2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009484HP:0009179Deviation of the 5th finger2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009484HP:0040019Finger clinodactyly2GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0009484HP:0009179Deviation of the 5th finger2GJA5 CL E G H27024279ORPHA:3303Tetralogy of Fallot39
HP:0009484HP:0040019Finger clinodactyly2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009484HP:0009179Deviation of the 5th finger2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009484HP:0009486Radial deviation of the hand2GLI3 CL E G H27374319ORPHA:93322Tibial hemimelia270
HP:0009484HP:0040019Finger clinodactyly2GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009484HP:0040019Finger clinodactyly2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009484HP:0009179Deviation of the 5th finger2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009484HP:0040019Finger clinodactyly2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009484HP:0009179Deviation of the 5th finger2GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0009484HP:0040019Finger clinodactyly2GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0009484HP:0009179Deviation of the 5th finger2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009484HP:0040019Finger clinodactyly2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009484HP:0040019Finger clinodactyly2GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009484HP:0009179Deviation of the 5th finger2GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0009484HP:0040019Finger clinodactyly2GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0009484HP:0040019Finger clinodactyly2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0009484HP:0040019Finger clinodactyly2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0009484HP:0040019Finger clinodactyly2H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0009484HP:0040019Finger clinodactyly2H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0009484HP:0009179Deviation of the 5th finger2H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0009484HP:0009179Deviation of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009484HP:0040019Finger clinodactyly2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009484HP:0040019Finger clinodactyly2H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009484HP:0009179Deviation of the 5th finger2H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009484HP:0009179Deviation of the 5th finger2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009484HP:0040019Finger clinodactyly2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009484HP:0040019Finger clinodactyly2HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0009484HP:0009179Deviation of the 5th finger2HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0009484HP:0009179Deviation of the 5th finger2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009484HP:0009603Deviation of the thumb2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009484HP:0040019Finger clinodactyly2HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0009484HP:0009179Deviation of the 5th finger2HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0009603Deviation of the thumb2HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0040019Finger clinodactyly2HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0040019Finger clinodactyly2HEATR3 CL E G H5502726087OMIM:620072
HP:0009484HP:0009603Deviation of the thumb2HEATR3 CL E G H5502726087OMIM:620072
HP:0009484HP:0009466Radial deviation of finger2HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0009484HP:0040019Finger clinodactyly2HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0009484HP:0009179Deviation of the 5th finger2HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0009484HP:0009179Deviation of the 5th finger2HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0009484HP:0040019Finger clinodactyly2HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0009484HP:0040019Finger clinodactyly2HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0009484HP:0040019Finger clinodactyly2HNRNPH1 CL E G H31875041OMIM:620083
HP:0009484HP:0009179Deviation of the 5th finger2HNRNPH1 CL E G H31875041OMIM:620083
HP:0009484HP:0009179Deviation of the 5th finger2HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0009468Deviation of the 2nd finger2HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0040019Finger clinodactyly2HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0040019Finger clinodactyly2HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0009484HP:0040019Finger clinodactyly2HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia3
HP:0009484HP:0009465Ulnar deviation of finger2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0009468Deviation of the 2nd finger2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0009179Deviation of the 5th finger2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0040019Finger clinodactyly2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009484HP:0009179Deviation of the 5th finger2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009484HP:0009603Deviation of the thumb2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0040019Finger clinodactyly2HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0009484HP:0009603Deviation of the thumb2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009484HP:0009465Ulnar deviation of finger2HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040281 - Very frequent25
HP:0009484HP:0040019Finger clinodactyly2HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009484HP:0009179Deviation of the 5th finger2HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 525
HP:0009484HP:0009179Deviation of the 5th finger2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009484HP:0040019Finger clinodactyly2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009484HP:0009465Ulnar deviation of finger2HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0009484HP:0040019Finger clinodactyly2HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0009484HP:0009179Deviation of the 5th finger2HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0009484HP:0009466Radial deviation of finger2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0009484HP:0040019Finger clinodactyly2IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0009484HP:0009179Deviation of the 5th finger2IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0009484HP:0009179Deviation of the 5th finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0040019Finger clinodactyly2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0009468Deviation of the 2nd finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0009179Deviation of the 5th finger2IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0009484HP:0040019Finger clinodactyly2IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0009484HP:0040019Finger clinodactyly2IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0009484HP:0009179Deviation of the 5th finger2IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0009484HP:0009179Deviation of the 5th finger2IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0009484HP:0040019Finger clinodactyly2IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0009484HP:0040019Finger clinodactyly2IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009484HP:0009179Deviation of the 5th finger2IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009484HP:0009466Radial deviation of finger2IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0009484HP:0040019Finger clinodactyly2IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0009484HP:0040019Finger clinodactyly2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0009484HP:0040019Finger clinodactyly2IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0009484HP:0009179Deviation of the 5th finger2IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0009484HP:0040019Finger clinodactyly2IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0009484HP:0009179Deviation of the 5th finger2IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0009484HP:0040019Finger clinodactyly2IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0009484HP:0040019Finger clinodactyly2IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009484HP:0009179Deviation of the 5th finger2IHH CL E G H35495956ORPHA:93388Brachydactyly type A144
HP:0009484HP:0009466Radial deviation of finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0040019Finger clinodactyly2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009317Deviation of the 3rd finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009468Deviation of the 2nd finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009179Deviation of the 5th finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009273Deviation of the 4th finger2IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0009484HP:0009466Radial deviation of finger2IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0009484HP:0040019Finger clinodactyly2IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009484HP:0009179Deviation of the 5th finger2IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009484HP:0040019Finger clinodactyly2IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009484HP:0009179Deviation of the 5th finger2IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009484HP:0009179Deviation of the 5th finger2JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0009484HP:0040019Finger clinodactyly2JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot257
HP:0009484HP:0009179Deviation of the 5th finger2JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0009484HP:0040019Finger clinodactyly2JAG1 CL E G H1826188ORPHA:3303Tetralogy of Fallot257
HP:0009484HP:0009179Deviation of the 5th finger2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0009484HP:0040019Finger clinodactyly2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0009484HP:0009179Deviation of the 5th finger2KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0009484HP:0040019Finger clinodactyly2KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0009484HP:0009179Deviation of the 5th finger2KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009484HP:0040019Finger clinodactyly2KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009484HP:0009179Deviation of the 5th finger2KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0009484HP:0040019Finger clinodactyly2KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0009484HP:0009603Deviation of the thumb2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0009484HP:0009273Deviation of the 4th finger2KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0009484HP:0040019Finger clinodactyly2KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0009484HP:0009179Deviation of the 5th finger2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0009484HP:0040019Finger clinodactyly2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0009484HP:0009179Deviation of the 5th finger2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009484HP:0040019Finger clinodactyly2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0009484HP:0040019Finger clinodactyly2KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009484HP:0009179Deviation of the 5th finger2KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009484HP:0009179Deviation of the 5th finger2KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0009484HP:0040019Finger clinodactyly2KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009484HP:0040019Finger clinodactyly2KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009484HP:0009179Deviation of the 5th finger2KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0009484HP:0040019Finger clinodactyly2KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0009484HP:0040019Finger clinodactyly2KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0009484HP:0009179Deviation of the 5th finger2KDR CL E G H37916307ORPHA:3303Tetralogy of Fallot40
HP:0009484HP:0040019Finger clinodactyly2KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0009484HP:0009179Deviation of the 5th finger2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009484HP:0040019Finger clinodactyly2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009484HP:0040019Finger clinodactyly2KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0009484HP:0040019Finger clinodactyly2KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009484HP:0009179Deviation of the 5th finger2KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009484HP:0009179Deviation of the 5th finger2KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0009484HP:0040019Finger clinodactyly2KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0009484HP:0009179Deviation of the 5th finger2KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0009484HP:0040019Finger clinodactyly2KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0009484HP:0009179Deviation of the 5th finger2KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009484HP:0040019Finger clinodactyly2KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009484HP:0040019Finger clinodactyly2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0009468Deviation of the 2nd finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0009317Deviation of the 3rd finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0009273Deviation of the 4th finger2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0009484HP:0040019Finger clinodactyly2KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0009484HP:0009179Deviation of the 5th finger2KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0009484HP:0040019Finger clinodactyly2KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0009484HP:0009179Deviation of the 5th finger2KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0009484HP:0040019Finger clinodactyly2KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0009484HP:0009179Deviation of the 5th finger2KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0009484HP:0009179Deviation of the 5th finger2L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0009484HP:0040019Finger clinodactyly2L1CAM CL E G H38976470ORPHA:2466MASA syndrome134
HP:0009484HP:0009487Ulnar deviation of the hand2LAMA5 CL E G H39116485OMIM:6200765
HP:0009484HP:0009487Ulnar deviation of the hand2LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009484HP:0040019Finger clinodactyly2LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0009484HP:0009179Deviation of the 5th finger2LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0009484HP:0009465Ulnar deviation of finger2LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0009484HP:0009179Deviation of the 5th finger2LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0009484HP:0040019Finger clinodactyly2LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0009484HP:0009179Deviation of the 5th finger2LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0009484HP:0040019Finger clinodactyly2LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0009484HP:0009179Deviation of the 5th finger2LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040283 - Occasional645
HP:0009484HP:0009179Deviation of the 5th finger2LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009484HP:0040019Finger clinodactyly2LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009484HP:0040019Finger clinodactyly2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0009484HP:0009179Deviation of the 5th finger2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0009484HP:0040019Finger clinodactyly2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0009484HP:0009179Deviation of the 5th finger2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0009484HP:0009603Deviation of the thumb2LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0009484HP:0009179Deviation of the 5th finger2LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009484HP:0040019Finger clinodactyly2LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009484HP:0040019Finger clinodactyly2LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009179Deviation of the 5th finger2LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009179Deviation of the 5th finger2LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0009484HP:0040019Finger clinodactyly2LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0009484HP:0040019Finger clinodactyly2MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0009484HP:0009179Deviation of the 5th finger2MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
HP:0009484HP:0009179Deviation of the 5th finger2MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009484HP:0040019Finger clinodactyly2MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0009484HP:0010557Overlapping fingers2MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0009484HP:0009179Deviation of the 5th finger2MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0009484HP:0040019Finger clinodactyly2MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0009484HP:0009487Ulnar deviation of the hand2MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0009484HP:0009466Radial deviation of finger2MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0009484HP:0040019Finger clinodactyly2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0009484HP:0009179Deviation of the 5th finger2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0009484HP:0040019Finger clinodactyly2MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009484HP:0009179Deviation of the 5th finger2MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009484HP:0009487Ulnar deviation of the hand2MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009484HP:0040019Finger clinodactyly2MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009484HP:0009179Deviation of the 5th finger2MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009484HP:0009466Radial deviation of finger2MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0009484HP:0009487Ulnar deviation of the hand2MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0009484HP:0040019Finger clinodactyly2MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0009484HP:0009487Ulnar deviation of the hand2MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0009484HP:0040019Finger clinodactyly2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009484HP:0009465Ulnar deviation of finger2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0009484HP:0009179Deviation of the 5th finger2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009484HP:0040019Finger clinodactyly2MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0009484HP:0009179Deviation of the 5th finger2MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009484HP:0040019Finger clinodactyly2MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009484HP:0009179Deviation of the 5th finger2MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0009484HP:0040019Finger clinodactyly2MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0009484HP:0040019Finger clinodactyly2MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0009484HP:0009179Deviation of the 5th finger2MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0009484HP:0009179Deviation of the 5th finger2MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009484HP:0040019Finger clinodactyly2MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009484HP:0040019Finger clinodactyly2MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0009484HP:0040019Finger clinodactyly2MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0009484HP:0009179Deviation of the 5th finger2MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome4
HP:0009484HP:0010557Overlapping fingers2MECOM CL E G H21223498OMIM:616738RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT24
HP:0009484HP:0040019Finger clinodactyly2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009484HP:0009179Deviation of the 5th finger2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009484HP:0040019Finger clinodactyly2MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0009484HP:0009468Deviation of the 2nd finger2MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0009484HP:0009487Ulnar deviation of the hand2MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0009484HP:0009466Radial deviation of finger2MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0009484HP:0009468Deviation of the 2nd finger2MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0009484HP:0010557Overlapping fingers2MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0009484HP:0040019Finger clinodactyly2MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009484HP:0009179Deviation of the 5th finger2MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009484HP:0009317Deviation of the 3rd finger2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0040019Finger clinodactyly2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009484HP:0009466Radial deviation of finger2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0009603Deviation of the thumb2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0040019Finger clinodactyly2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0009179Deviation of the 5th finger2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0040019Finger clinodactyly2METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0009484HP:0009603Deviation of the thumb2MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0009484HP:0040019Finger clinodactyly2MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009484HP:0009179Deviation of the 5th finger2MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009484HP:0009466Radial deviation of finger2MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0009484HP:0009466Radial deviation of finger2MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009466Radial deviation of finger2MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0009484HP:0009179Deviation of the 5th finger2MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0009484HP:0040019Finger clinodactyly2MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009484HP:0040019Finger clinodactyly2MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0009484HP:0040019Finger clinodactyly2MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0009484HP:0010557Overlapping fingers2MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0009484HP:0010557Overlapping fingers2MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0009484HP:0040019Finger clinodactyly2MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0009484HP:0009179Deviation of the 5th finger2MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0009484HP:0009487Ulnar deviation of the hand2MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0009484HP:0009465Ulnar deviation of finger2MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent66
HP:0009484HP:0010557Overlapping fingers2MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent66
HP:0009484HP:0040019Finger clinodactyly2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009484HP:0009179Deviation of the 5th finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009484HP:0009487Ulnar deviation of the hand2MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0009484HP:0010557Overlapping fingers2MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0009484HP:0009465Ulnar deviation of finger2MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent166
HP:0009484HP:0010557Overlapping fingers2MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent166
HP:0009484HP:0009465Ulnar deviation of finger2MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0009484HP:0010557Overlapping fingers2MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0009484HP:0009465Ulnar deviation of finger2MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0009484HP:0009179Deviation of the 5th finger2MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009484HP:0040019Finger clinodactyly2MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009484HP:0009465Ulnar deviation of finger2MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0009484HP:0009465Ulnar deviation of finger2MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0009484HP:0010557Overlapping fingers2MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0009484HP:0009179Deviation of the 5th finger2NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009484HP:0040019Finger clinodactyly2NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009484HP:0009466Radial deviation of finger2NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0009484HP:0009179Deviation of the 5th finger2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009484HP:0040019Finger clinodactyly2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009484HP:0040019Finger clinodactyly2NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009484HP:0009179Deviation of the 5th finger2NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009484HP:0010557Overlapping fingers2NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent48
HP:0009484HP:0009465Ulnar deviation of finger2NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent48
HP:0009484HP:0009465Ulnar deviation of finger2NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0009484HP:0009465Ulnar deviation of finger2NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0009484HP:0010557Overlapping fingers2NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0009484HP:0009273Deviation of the 4th finger2NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0009484HP:0040019Finger clinodactyly2NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0009484HP:0009179Deviation of the 5th finger2NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0009484HP:0040019Finger clinodactyly2NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0009484HP:0040019Finger clinodactyly2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0009484HP:0010557Overlapping fingers2NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0009484HP:0040019Finger clinodactyly2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009484HP:0009179Deviation of the 5th finger2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009484HP:0040019Finger clinodactyly2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009484HP:0009179Deviation of the 5th finger2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009484HP:0040019Finger clinodactyly2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009484HP:0009179Deviation of the 5th finger2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009484HP:0009179Deviation of the 5th finger2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009484HP:0040019Finger clinodactyly2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009484HP:0009603Deviation of the thumb2NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0009484HP:0040019Finger clinodactyly2NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009484HP:0009179Deviation of the 5th finger2NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009484HP:0009603Deviation of the thumb2NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0009484HP:0040019Finger clinodactyly2NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0040019Finger clinodactyly2NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0009484HP:0009179Deviation of the 5th finger2NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot90
HP:0009484HP:0009179Deviation of the 5th finger2NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of Fallot90
HP:0009484HP:0040019Finger clinodactyly2NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0009484HP:0009179Deviation of the 5th finger2NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of Fallot3
HP:0009484HP:0009603Deviation of the thumb2NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0009484HP:0009603Deviation of the thumb2NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009484HP:0040019Finger clinodactyly2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0009179Deviation of the 5th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0009466Radial deviation of finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0009484HP:0040019Finger clinodactyly2NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040282 - Frequent22
HP:0009484HP:0009179Deviation of the 5th finger2NOG CL E G H92417866ORPHA:3250Proximal symphalangism22
HP:0009484HP:0009466Radial deviation of finger2NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0009484HP:0040019Finger clinodactyly2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0009484HP:0009179Deviation of the 5th finger2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0009484HP:0009466Radial deviation of finger2NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0009484HP:0040019Finger clinodactyly2NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0009484HP:0040019Finger clinodactyly2NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0009484HP:0009179Deviation of the 5th finger2NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0009484HP:0009179Deviation of the 5th finger2NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009484HP:0040019Finger clinodactyly2NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009484HP:0040019Finger clinodactyly2NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0009484HP:0009179Deviation of the 5th finger2NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0009484HP:0040019Finger clinodactyly2NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0009484HP:0009179Deviation of the 5th finger2NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive
HP:0009484HP:0009179Deviation of the 5th finger2NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0009484HP:0040019Finger clinodactyly2NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0009484HP:0040019Finger clinodactyly2NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0009484HP:0040019Finger clinodactyly2OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009484HP:0009179Deviation of the 5th finger2OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0009484HP:0040019Finger clinodactyly2ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009484HP:0009179Deviation of the 5th finger2ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009484HP:0040019Finger clinodactyly2ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0009484HP:0009466Radial deviation of finger2OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0009484HP:0009179Deviation of the 5th finger2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009484HP:0040019Finger clinodactyly2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009484HP:0040019Finger clinodactyly2OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0009484HP:0009466Radial deviation of finger2OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0009484HP:0009179Deviation of the 5th finger2OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009484HP:0040019Finger clinodactyly2OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009484HP:0009468Deviation of the 2nd finger2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0009484HP:0040019Finger clinodactyly2ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0009484HP:0009179Deviation of the 5th finger2ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0009484HP:0040019Finger clinodactyly2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0009484HP:0009179Deviation of the 5th finger2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0009484HP:0009179Deviation of the 5th finger2ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0009484HP:0040019Finger clinodactyly2ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0009484HP:0040019Finger clinodactyly2ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0009484HP:0009179Deviation of the 5th finger2ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0009484HP:0010557Overlapping fingers2OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009484HP:0040019Finger clinodactyly2PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0009484HP:0009179Deviation of the 5th finger2PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0009484HP:0009179Deviation of the 5th finger2PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0009484HP:0040019Finger clinodactyly2PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0009484HP:0040019Finger clinodactyly2PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0009484HP:0009179Deviation of the 5th finger2PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0009484HP:0040019Finger clinodactyly2PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0009484HP:0009179Deviation of the 5th finger2PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0009484HP:0009179Deviation of the 5th finger2PAICS CL E G H106068587OMIM:619859
HP:0009484HP:0040019Finger clinodactyly2PAICS CL E G H106068587OMIM:619859
HP:0009484HP:0009179Deviation of the 5th finger2PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009484HP:0040019Finger clinodactyly2PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0009484HP:0009487Ulnar deviation of the hand2PAX3 CL E G H50778617OMIM:122880Craniofacial-Deafness-Hand syndrome.59
HP:0009484HP:0009465Ulnar deviation of finger2PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0009484HP:0009487Ulnar deviation of the hand2PCDHGC4 CL E G H560988717OMIM:619880
HP:0009484HP:0009179Deviation of the 5th finger2PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0009484HP:0040019Finger clinodactyly2PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0009484HP:0040019Finger clinodactyly2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009484HP:0009179Deviation of the 5th finger2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0009484HP:0040019Finger clinodactyly2PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0009484HP:0009179Deviation of the 5th finger2PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0009484HP:0040019Finger clinodactyly2PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0009484HP:0009179Deviation of the 5th finger2PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0009484HP:0040019Finger clinodactyly2PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0009484HP:0009487Ulnar deviation of the hand2PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0009484HP:0009179Deviation of the 5th finger2PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009484HP:0040019Finger clinodactyly2PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009484HP:0009466Radial deviation of finger2PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0009484HP:0009179Deviation of the 5th finger2PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009484HP:0040019Finger clinodactyly2PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009484HP:0010557Overlapping fingers2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0009484HP:0010557Overlapping fingers2PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.11
HP:0009484HP:0009179Deviation of the 5th finger2PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0009484HP:0040019Finger clinodactyly2PIEZO2 CL E G H6389526270ORPHA:376Gordon syndrome77
HP:0009484HP:0009179Deviation of the 5th finger2PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009484HP:0040019Finger clinodactyly2PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009484HP:0009179Deviation of the 5th finger2PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0009484HP:0040019Finger clinodactyly2PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0009484HP:0009179Deviation of the 5th finger2PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0009484HP:0040019Finger clinodactyly2PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0009484HP:0040019Finger clinodactyly2PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009484HP:0009179Deviation of the 5th finger2PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009484HP:0040019Finger clinodactyly2PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009484HP:0009179Deviation of the 5th finger2PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009484HP:0040019Finger clinodactyly2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009317Deviation of the 3rd finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009468Deviation of the 2nd finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009273Deviation of the 4th finger2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0009484HP:0009466Radial deviation of finger2PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0009484HP:0009179Deviation of the 5th finger2PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0009484HP:0040019Finger clinodactyly2PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome8
HP:0009484HP:0009486Radial deviation of the hand2PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly8
HP:0009484HP:0040019Finger clinodactyly2PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009484HP:0009317Deviation of the 3rd finger2PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009484HP:0009179Deviation of the 5th finger2PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0009484HP:0040019Finger clinodactyly2PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0009484HP:0040019Finger clinodactyly2PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0009484HP:0009179Deviation of the 5th finger2PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0009484HP:0010557Overlapping fingers2PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009484HP:0040019Finger clinodactyly2PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0009484HP:0009179Deviation of the 5th finger2PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0009484HP:0009179Deviation of the 5th finger2PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0009484HP:0040019Finger clinodactyly2PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0009484HP:0040019Finger clinodactyly2POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009484HP:0009179Deviation of the 5th finger2POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009484HP:0040019Finger clinodactyly2POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0009484HP:0009179Deviation of the 5th finger2POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0009484HP:0010557Overlapping fingers2PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009484HP:0009179Deviation of the 5th finger2PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0009484HP:0009179Deviation of the 5th finger2PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0009484HP:0040019Finger clinodactyly2PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0009484HP:0040019Finger clinodactyly2PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009484HP:0009179Deviation of the 5th finger2PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009484HP:0040019Finger clinodactyly2PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0009484HP:0009179Deviation of the 5th finger2PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0009484HP:0009179Deviation of the 5th finger2PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009484HP:0040019Finger clinodactyly2PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009484HP:0009179Deviation of the 5th finger2PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0009484HP:0040019Finger clinodactyly2PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0009484HP:0010557Overlapping fingers2PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0009484HP:0040019Finger clinodactyly2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009484HP:0009179Deviation of the 5th finger2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009484HP:0040019Finger clinodactyly2PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0009484HP:0009179Deviation of the 5th finger2PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0009484HP:0010557Overlapping fingers2PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesisHP:0040283 - Occasional22
HP:0009484HP:0009179Deviation of the 5th finger2PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0009484HP:0040019Finger clinodactyly2PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0009484HP:0009179Deviation of the 5th finger2PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0009484HP:0040019Finger clinodactyly2PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0009484HP:0009466Radial deviation of finger2PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0009484HP:0009317Deviation of the 3rd finger2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0009603Deviation of the thumb2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0009465Ulnar deviation of finger2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0009468Deviation of the 2nd finger2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0009484HP:0009603Deviation of the thumb2PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0009484HP:0009179Deviation of the 5th finger2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009484HP:0040019Finger clinodactyly2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0009484HP:0040019Finger clinodactyly2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009484HP:0009179Deviation of the 5th finger2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009484HP:0009466Radial deviation of finger2PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009466Radial deviation of finger2PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009179Deviation of the 5th finger2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009484HP:0040019Finger clinodactyly2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009484HP:0009179Deviation of the 5th finger2RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0009484HP:0040019Finger clinodactyly2RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0009484HP:0009179Deviation of the 5th finger2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009484HP:0040019Finger clinodactyly2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009484HP:0009465Ulnar deviation of finger2RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0009484HP:0009465Ulnar deviation of finger2RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0009484HP:0040019Finger clinodactyly2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009484HP:0009603Deviation of the thumb2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009484HP:0009179Deviation of the 5th finger2RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0009484HP:0040019Finger clinodactyly2RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009484HP:0009179Deviation of the 5th finger2RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009484HP:0040019Finger clinodactyly2RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009484HP:0009179Deviation of the 5th finger2RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0009484HP:0009179Deviation of the 5th finger2RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009484HP:0040019Finger clinodactyly2RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0009484HP:0009603Deviation of the thumb2RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009484HP:0009179Deviation of the 5th finger2RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0009484HP:0040019Finger clinodactyly2RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0009484HP:0040019Finger clinodactyly2RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009484HP:0009179Deviation of the 5th finger2RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009484HP:0040019Finger clinodactyly2RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0009484HP:0040019Finger clinodactyly2RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0009484HP:0009179Deviation of the 5th finger2RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0009484HP:0009179Deviation of the 5th finger2RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0009484HP:0040019Finger clinodactyly2RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0009484HP:0040019Finger clinodactyly2RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009484HP:0009179Deviation of the 5th finger2RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009484HP:0009487Ulnar deviation of the hand2RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0009484HP:0009487Ulnar deviation of the hand2RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0009484HP:0009179Deviation of the 5th finger2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0009487Ulnar deviation of the hand2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0040019Finger clinodactyly2RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0009179Deviation of the 5th finger2RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0009486Radial deviation of the hand2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0040019Finger clinodactyly2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0040019Finger clinodactyly2RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0009484HP:0009179Deviation of the 5th finger2RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0009484HP:0040019Finger clinodactyly2RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009484HP:0009179Deviation of the 5th finger2RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009484HP:0040019Finger clinodactyly2REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0009484HP:0009179Deviation of the 5th finger2RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009484HP:0040019Finger clinodactyly2RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0009484HP:0009179Deviation of the 5th finger2RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0009484HP:0040019Finger clinodactyly2RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0009484HP:0040019Finger clinodactyly2RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0009484HP:0009179Deviation of the 5th finger2RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0009484HP:0009179Deviation of the 5th finger2RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009484HP:0040019Finger clinodactyly2RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009484HP:0009179Deviation of the 5th finger2RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0009484HP:0040019Finger clinodactyly2RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0009484HP:0009179Deviation of the 5th finger2RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009484HP:0040019Finger clinodactyly2RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009484HP:0040019Finger clinodactyly2RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0009484HP:0009179Deviation of the 5th finger2RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0009484HP:0009179Deviation of the 5th finger2ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0009484HP:0040019Finger clinodactyly2ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0009484HP:0009466Radial deviation of finger2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0009484HP:0009179Deviation of the 5th finger2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009484HP:0040019Finger clinodactyly2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009484HP:0040019Finger clinodactyly2RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0009484HP:0009179Deviation of the 5th finger2RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0009484HP:0040019Finger clinodactyly2RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0009484HP:0009179Deviation of the 5th finger2RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0009484HP:0040019Finger clinodactyly2RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0009484HP:0009179Deviation of the 5th finger2RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0009484HP:0009603Deviation of the thumb2RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0009484HP:0009179Deviation of the 5th finger2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0009484HP:0040019Finger clinodactyly2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0009484HP:0040019Finger clinodactyly2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009484HP:0009317Deviation of the 3rd finger2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009484HP:0009179Deviation of the 5th finger2RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0009484HP:0040019Finger clinodactyly2RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0009484HP:0040019Finger clinodactyly2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009484HP:0009179Deviation of the 5th finger2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009484HP:0009465Ulnar deviation of finger2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0009484HP:0009486Radial deviation of the hand2SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009484HP:0009486Radial deviation of the hand2SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0009484HP:0009486Radial deviation of the hand2SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0009484HP:0010557Overlapping fingers2SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0009484HP:0040019Finger clinodactyly2SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0009484HP:0009179Deviation of the 5th finger2SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0009484HP:0009179Deviation of the 5th finger2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0009484HP:0040019Finger clinodactyly2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0009484HP:0009179Deviation of the 5th finger2SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0009484HP:0040019Finger clinodactyly2SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0009484HP:0040019Finger clinodactyly2SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0009484HP:0009179Deviation of the 5th finger2SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0009484HP:0010557Overlapping fingers2SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0009484HP:0009466Radial deviation of finger2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0009484HP:0009179Deviation of the 5th finger2SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0009484HP:0040019Finger clinodactyly2SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndrome134
HP:0009484HP:0009179Deviation of the 5th finger2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0009484HP:0040019Finger clinodactyly2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0009484HP:0040019Finger clinodactyly2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009484HP:0009179Deviation of the 5th finger2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009484HP:0009603Deviation of the thumb2SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009484HP:0009465Ulnar deviation of finger2SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0009484HP:0040019Finger clinodactyly2SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009484HP:0009179Deviation of the 5th finger2SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0009484HP:0009179Deviation of the 5th finger2SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009484HP:0040019Finger clinodactyly2SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009484HP:0009179Deviation of the 5th finger2SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009484HP:0040019Finger clinodactyly2SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009484HP:0009603Deviation of the thumb2SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0040019Finger clinodactyly2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0009466Radial deviation of finger2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0009603Deviation of the thumb2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0040019Finger clinodactyly2SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0009484HP:0009179Deviation of the 5th finger2SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0009484HP:0009603Deviation of the thumb2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0009484HP:0009466Radial deviation of finger2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0009484HP:0009603Deviation of the thumb2SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0009466Radial deviation of finger2SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0009603Deviation of the thumb2SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0009484HP:0009603Deviation of the thumb2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0009465Ulnar deviation of finger2SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040282 - Frequent166
HP:0009484HP:0009466Radial deviation of finger2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0009484HP:0009465Ulnar deviation of finger2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0009484HP:0009487Ulnar deviation of the hand2SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0009484HP:0040019Finger clinodactyly2SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009484HP:0009179Deviation of the 5th finger2SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009484HP:0040019Finger clinodactyly2SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0009484HP:0009179Deviation of the 5th finger2SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0009484HP:0040019Finger clinodactyly2SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009484HP:0009179Deviation of the 5th finger2SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0009484HP:0009466Radial deviation of finger2SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0009484HP:0040019Finger clinodactyly2SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009484HP:0009179Deviation of the 5th finger2SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009484HP:0009603Deviation of the thumb2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009484HP:0040019Finger clinodactyly2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009484HP:0009179Deviation of the 5th finger2SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0009484HP:0009603Deviation of the thumb2SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0009484HP:0009603Deviation of the thumb2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009484HP:0040019Finger clinodactyly2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009484HP:0009179Deviation of the 5th finger2SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0009484HP:0040019Finger clinodactyly2SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0009179Deviation of the 5th finger2SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0009603Deviation of the thumb2SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0009179Deviation of the 5th finger2SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009484HP:0040019Finger clinodactyly2SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009484HP:0009466Radial deviation of finger2SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009466Radial deviation of finger2SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0009484HP:0009179Deviation of the 5th finger2SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0009484HP:0009179Deviation of the 5th finger2SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0009484HP:0040019Finger clinodactyly2SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndrome6
HP:0009484HP:0040019Finger clinodactyly2SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0009484HP:0009273Deviation of the 4th finger2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009484HP:0009179Deviation of the 5th finger2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009484HP:0040019Finger clinodactyly2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0009484HP:0009179Deviation of the 5th finger2SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0009484HP:0040019Finger clinodactyly2SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0009484HP:0009179Deviation of the 5th finger2SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0009484HP:0040019Finger clinodactyly2SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0009484HP:0009179Deviation of the 5th finger2SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009484HP:0040019Finger clinodactyly2SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009484HP:0009179Deviation of the 5th finger2SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0009484HP:0040019Finger clinodactyly2SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0009484HP:0009179Deviation of the 5th finger2SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0009484HP:0040019Finger clinodactyly2SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0009484HP:0040019Finger clinodactyly2SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009484HP:0009179Deviation of the 5th finger2SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009484HP:0040019Finger clinodactyly2SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009484HP:0009179Deviation of the 5th finger2SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009484HP:0040019Finger clinodactyly2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009484HP:0009179Deviation of the 5th finger2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009484HP:0040019Finger clinodactyly2SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0009484HP:0009179Deviation of the 5th finger2SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0009484HP:0040019Finger clinodactyly2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009484HP:0009179Deviation of the 5th finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009484HP:0040019Finger clinodactyly2STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0009484HP:0040019Finger clinodactyly2STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0009484HP:0009179Deviation of the 5th finger2STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0009484HP:0009179Deviation of the 5th finger2TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009484HP:0040019Finger clinodactyly2TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009484HP:0040019Finger clinodactyly2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0009484HP:0040019Finger clinodactyly2TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0009484HP:0009179Deviation of the 5th finger2TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0009484HP:0040019Finger clinodactyly2TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0009484HP:0040019Finger clinodactyly2TBX1 CL E G H689911592ORPHA:3303Tetralogy of Fallot32
HP:0009484HP:0009179Deviation of the 5th finger2TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot32
HP:0009484HP:0040019Finger clinodactyly2TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0009484HP:0009179Deviation of the 5th finger2TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0009484HP:0009465Ulnar deviation of finger2TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040282 - Frequent28
HP:0009484HP:0009179Deviation of the 5th finger2TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0009484HP:0040019Finger clinodactyly2TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0009484HP:0040019Finger clinodactyly2TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009484HP:0009179Deviation of the 5th finger2TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0009484HP:0040019Finger clinodactyly2TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0009484HP:0040019Finger clinodactyly2TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0009484HP:0040019Finger clinodactyly2TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0009484HP:0009179Deviation of the 5th finger2TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0009484HP:0040019Finger clinodactyly2TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0009484HP:0009179Deviation of the 5th finger2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009484HP:0009603Deviation of the thumb2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009484HP:0040019Finger clinodactyly2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009484HP:0009179Deviation of the 5th finger2TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009484HP:0040019Finger clinodactyly2TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009484HP:0040019Finger clinodactyly2TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0009484HP:0009179Deviation of the 5th finger2TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0009484HP:0009468Deviation of the 2nd finger2TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0040019Finger clinodactyly2TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0009179Deviation of the 5th finger2TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0009465Ulnar deviation of finger2TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0009468Deviation of the 2nd finger2TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0009179Deviation of the 5th finger2TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0009466Radial deviation of finger2TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndrome6
HP:0009484HP:0040019Finger clinodactyly2TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0009484HP:0040019Finger clinodactyly2TMEM147 CL E G H1043030414OMIM:620075
HP:0009484HP:0009179Deviation of the 5th finger2TMEM147 CL E G H1043030414OMIM:620075
HP:0009484HP:0040019Finger clinodactyly2TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0009484HP:0009179Deviation of the 5th finger2TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0009484HP:0010557Overlapping fingers2TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0009484HP:0009465Ulnar deviation of finger2TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent37
HP:0009484HP:0010557Overlapping fingers2TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent37
HP:0009484HP:0009465Ulnar deviation of finger2TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0009484HP:0010557Overlapping fingers2TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0009484HP:0010557Overlapping fingers2TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0009484HP:0010557Overlapping fingers2TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent43
HP:0009484HP:0009465Ulnar deviation of finger2TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent43
HP:0009484HP:0010557Overlapping fingers2TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0009484HP:0009465Ulnar deviation of finger2TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0009484HP:0040019Finger clinodactyly2TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0009484HP:0009603Deviation of the thumb2TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0009484HP:0040019Finger clinodactyly2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0009484HP:0009179Deviation of the 5th finger2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0009484HP:0010557Overlapping fingers2TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0009484HP:0010557Overlapping fingers2TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent54
HP:0009484HP:0009465Ulnar deviation of finger2TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 1HP:0040282 - Frequent54
HP:0009484HP:0010557Overlapping fingers2TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0009484HP:0009465Ulnar deviation of finger2TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0009484HP:0009179Deviation of the 5th finger2TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0009484HP:0040019Finger clinodactyly2TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0009484HP:0040019Finger clinodactyly2TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0009484HP:0009179Deviation of the 5th finger2TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0009484HP:0009179Deviation of the 5th finger2TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009484HP:0040019Finger clinodactyly2TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009484HP:0009179Deviation of the 5th finger2TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0009484HP:0040019Finger clinodactyly2TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0009484HP:0009179Deviation of the 5th finger2TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0009484HP:0040019Finger clinodactyly2TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0009484HP:0040019Finger clinodactyly2TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0009484HP:0009179Deviation of the 5th finger2TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0009484HP:0009466Radial deviation of finger2TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0009484HP:0009466Radial deviation of finger2TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0009484HP:0009179Deviation of the 5th finger2TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0009484HP:0040019Finger clinodactyly2TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0009484HP:0009179Deviation of the 5th finger2TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0009484HP:0040019Finger clinodactyly2TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0009484HP:0009179Deviation of the 5th finger2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009484HP:0040019Finger clinodactyly2TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0009484HP:0040019Finger clinodactyly2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009484HP:0009179Deviation of the 5th finger2TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0009484HP:0009179Deviation of the 5th finger2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009484HP:0040019Finger clinodactyly2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009484HP:0040019Finger clinodactyly2TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009484HP:0009179Deviation of the 5th finger2TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009484HP:0040019Finger clinodactyly2UBA2 CL E G H1005430661OMIM:619959
HP:0009484HP:0009179Deviation of the 5th finger2UBA2 CL E G H1005430661OMIM:619959
HP:0009484HP:0040019Finger clinodactyly2UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009484HP:0009179Deviation of the 5th finger2UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0009484HP:0040019Finger clinodactyly2UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0009484HP:0009179Deviation of the 5th finger2UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0009484HP:0009179Deviation of the 5th finger2UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009484HP:0040019Finger clinodactyly2UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009484HP:0009179Deviation of the 5th finger2UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0009484HP:0040019Finger clinodactyly2UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0009484HP:0040019Finger clinodactyly2UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0009484HP:0009179Deviation of the 5th finger2UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0009484HP:0009179Deviation of the 5th finger2USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009484HP:0040019Finger clinodactyly2USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009484HP:0040019Finger clinodactyly2VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0009484HP:0009179Deviation of the 5th finger2VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0009484HP:0009179Deviation of the 5th finger2VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0009484HP:0040019Finger clinodactyly2WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0009484HP:0009179Deviation of the 5th finger2WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0009484HP:0009179Deviation of the 5th finger2WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0009484HP:0040019Finger clinodactyly2WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0009484HP:0040019Finger clinodactyly2WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0009484HP:0009179Deviation of the 5th finger2WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0009484HP:0009179Deviation of the 5th finger2WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009484HP:0040019Finger clinodactyly2WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009484HP:0009179Deviation of the 5th finger2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009484HP:0040019Finger clinodactyly2WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009484HP:0009466Radial deviation of finger2WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0009484HP:0009465Ulnar deviation of finger2WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009484HP:0040019Finger clinodactyly2XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009484HP:0009179Deviation of the 5th finger2XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0009484HP:0040019Finger clinodactyly2XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0009484HP:0009179Deviation of the 5th finger2XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0009484HP:0040019Finger clinodactyly2XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0009484HP:0009179Deviation of the 5th finger2XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0009484HP:0040019Finger clinodactyly2YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0009484HP:0009179Deviation of the 5th finger2YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0009484HP:0040019Finger clinodactyly2YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0009484HP:0009179Deviation of the 5th finger2YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0009484HP:0040019Finger clinodactyly2YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0009484HP:0009179Deviation of the 5th finger2ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0009484HP:0040019Finger clinodactyly2ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0009484HP:0009603Deviation of the thumb2ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0009484HP:0009486Radial deviation of the hand2ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0009484HP:0009487Ulnar deviation of the hand2ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0009484HP:0009487Ulnar deviation of the hand2ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0009484HP:0009179Deviation of the 5th finger2ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0009484HP:0040019Finger clinodactyly2ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0009484HP:0040019Finger clinodactyly2ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot31
HP:0009484HP:0009179Deviation of the 5th finger2ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of Fallot31
HP:0009484HP:0009603Deviation of the thumb2ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009484HP:0040019Finger clinodactyly2ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009484HP:0009179Deviation of the 5th finger2ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009484HP:0040019Finger clinodactyly2ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009484HP:0009179Deviation of the 5th finger2ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009484HP:0009179Deviation of the 5th finger2ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0009603Deviation of the thumb2ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0040019Finger clinodactyly2ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0006156Ulnar deviation of thumb3 CL E G H
HP:0009484HP:0040020Radial deviation of the 5th finger3 CL E G H
HP:0009484HP:0009622Distally placed thumb3 CL E G H
HP:0009484HP:0009278Ulnar deviation of the 4th finger3 CL E G H
HP:0009484HP:0009180Ulnar deviation of the 5th finger3 CL E G H
HP:0009484HP:0040025Clinodactyly of the 4th finger3ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040283 - Occasional245
HP:0009484HP:0004209Clinodactyly of the 5th finger3ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040282 - Frequent49
HP:0009484HP:0004209Clinodactyly of the 5th finger3ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0009484HP:0004209Clinodactyly of the 5th finger3AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0009484HP:0004209Clinodactyly of the 5th finger3AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0009484HP:0004209Clinodactyly of the 5th finger3AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0009484HP:0004209Clinodactyly of the 5th finger3ALDH1A2 CL E G H885415472OMIM:620025
HP:0009484HP:0004209Clinodactyly of the 5th finger3ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0009484HP:0009623Proximal placement of thumb3ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0009484HP:0001234Hitchhiker thumb3ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0009484HP:0004209Clinodactyly of the 5th finger3AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0009484HP:0004209Clinodactyly of the 5th finger3AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0009484HP:0009623Proximal placement of thumb3ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0009484HP:0004209Clinodactyly of the 5th finger3ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0009484HP:0004209Clinodactyly of the 5th finger3AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0009484HP:0004209Clinodactyly of the 5th finger3ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0009484HP:0004209Clinodactyly of the 5th finger3ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATP2B1 CL E G H490814OMIM:619910
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0009484HP:0004209Clinodactyly of the 5th finger3AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0009484HP:0004209Clinodactyly of the 5th finger3B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0009484HP:0004209Clinodactyly of the 5th finger3B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0009484HP:0009623Proximal placement of thumb3B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0009484HP:0004209Clinodactyly of the 5th finger3B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0009484HP:0009623Proximal placement of thumb3BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0009484HP:0004209Clinodactyly of the 5th finger3BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0009484HP:0004209Clinodactyly of the 5th finger3BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0009484HP:0004209Clinodactyly of the 5th finger3BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0009484HP:0004209Clinodactyly of the 5th finger3BHLHA9 CL E G H72785735126ORPHA:157801Mesoaxial synostotic syndactyly with phalangeal reductionHP:0040281 - Very frequent4
HP:0009484HP:0004209Clinodactyly of the 5th finger3BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0009484HP:0004209Clinodactyly of the 5th finger3BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent13
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0009484HP:0009467Radial deviation of the 2nd finger3BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0009484HP:0009623Proximal placement of thumb3BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional90
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent90
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040283 - Occasional90
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009484HP:0009467Radial deviation of the 2nd finger3BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009484HP:0004209Clinodactyly of the 5th finger3BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0009484HP:0004209Clinodactyly of the 5th finger3BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0009484HP:0009623Proximal placement of thumb3BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group SHP:0040284 - Very rare5769
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0009484HP:0009623Proximal placement of thumb3BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0009484HP:0004209Clinodactyly of the 5th finger3BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0009484HP:0004209Clinodactyly of the 5th finger3BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0009484HP:0004209Clinodactyly of the 5th finger3BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0009484HP:0004209Clinodactyly of the 5th finger3BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0009484HP:0009467Radial deviation of the 2nd finger3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009484HP:0004209Clinodactyly of the 5th finger3CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0009484HP:0004209Clinodactyly of the 5th finger3CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0009484HP:0004209Clinodactyly of the 5th finger3CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0009484HP:0004209Clinodactyly of the 5th finger3CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0009484HP:0004209Clinodactyly of the 5th finger3CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040283 - Occasional5
HP:0009484HP:0004209Clinodactyly of the 5th finger3CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0009484HP:0004209Clinodactyly of the 5th finger3CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040281 - Very frequent7
HP:0009484HP:0004209Clinodactyly of the 5th finger3CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0009484HP:0004209Clinodactyly of the 5th finger3CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0009484HP:0009623Proximal placement of thumb3CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0009484HP:0009623Proximal placement of thumb3CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0009484HP:0004209Clinodactyly of the 5th finger3CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0009484HP:0004209Clinodactyly of the 5th finger3CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0009484HP:0004209Clinodactyly of the 5th finger3CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0009484HP:0004209Clinodactyly of the 5th finger3CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0009484HP:0004209Clinodactyly of the 5th finger3CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0009484HP:0004209Clinodactyly of the 5th finger3CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0009484HP:0004209Clinodactyly of the 5th finger3CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0009484HP:0004209Clinodactyly of the 5th finger3CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0009484HP:0004209Clinodactyly of the 5th finger3CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5.146
HP:0009484HP:0004209Clinodactyly of the 5th finger3CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0009484HP:0004209Clinodactyly of the 5th finger3CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0009484HP:0004209Clinodactyly of the 5th finger3CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0009484HP:0004209Clinodactyly of the 5th finger3CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0009484HP:0004209Clinodactyly of the 5th finger3CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0009484HP:0004209Clinodactyly of the 5th finger3CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0009484HP:0001234Hitchhiker thumb3CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome16
HP:0009484HP:0004209Clinodactyly of the 5th finger3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0009484HP:0040022Clinodactyly of the 2nd finger3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0009484HP:0001234Hitchhiker thumb3CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009484HP:0004209Clinodactyly of the 5th finger3CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0009484HP:0004209Clinodactyly of the 5th finger3CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0009484HP:0004209Clinodactyly of the 5th finger3CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0009484HP:0004209Clinodactyly of the 5th finger3CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0009484HP:0004209Clinodactyly of the 5th finger3CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0009484HP:0004209Clinodactyly of the 5th finger3COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0009484HP:0004209Clinodactyly of the 5th finger3COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0040025Clinodactyly of the 4th finger3COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0009484HP:0006055Ulnar deviated club hands3COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0009484HP:0006190Radially deviated wrists3COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0009484HP:0006055Ulnar deviated club hands3COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0009484HP:0006190Radially deviated wrists3COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional110
HP:0009484HP:0006190Radially deviated wrists3COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional137
HP:0009484HP:0006055Ulnar deviated club hands3COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomalyHP:0040283 - Occasional137
HP:0009484HP:0004209Clinodactyly of the 5th finger3CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0009484HP:0004209Clinodactyly of the 5th finger3CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009484HP:0009623Proximal placement of thumb3CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0009484HP:0004209Clinodactyly of the 5th finger3CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0009484HP:0040022Clinodactyly of the 2nd finger3CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0009484HP:0004209Clinodactyly of the 5th finger3CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0009484HP:0004209Clinodactyly of the 5th finger3CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0009484HP:0004209Clinodactyly of the 5th finger3CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0009484HP:0004209Clinodactyly of the 5th finger3CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040283 - Occasional127
HP:0009484HP:0004209Clinodactyly of the 5th finger3DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0009484HP:0009623Proximal placement of thumb3DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009484HP:0009623Proximal placement of thumb3DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0009484HP:0004209Clinodactyly of the 5th finger3DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0009484HP:0040024Clinodactyly of the 3rd finger3DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009484HP:0004209Clinodactyly of the 5th finger3DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0009484HP:0004209Clinodactyly of the 5th finger3DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0009484HP:0004209Clinodactyly of the 5th finger3DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0009484HP:0004209Clinodactyly of the 5th finger3DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0009484HP:0004209Clinodactyly of the 5th finger3DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional747
HP:0009484HP:0004209Clinodactyly of the 5th finger3DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0009484HP:0004209Clinodactyly of the 5th finger3DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0009484HP:0004209Clinodactyly of the 5th finger3DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0009484HP:0004209Clinodactyly of the 5th finger3EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0009484HP:0004209Clinodactyly of the 5th finger3EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0009484HP:0009623Proximal placement of thumb3EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida typeHP:0040283 - Occasional48
HP:0009484HP:0004209Clinodactyly of the 5th finger3EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009484HP:0009623Proximal placement of thumb3EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009484HP:0004209Clinodactyly of the 5th finger3EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0009484HP:0004209Clinodactyly of the 5th finger3ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0009484HP:0004209Clinodactyly of the 5th finger3EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0009484HP:0004209Clinodactyly of the 5th finger3EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009484HP:0004209Clinodactyly of the 5th finger3ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0009484HP:0009623Proximal placement of thumb3ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009484HP:0004209Clinodactyly of the 5th finger3ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009484HP:0004209Clinodactyly of the 5th finger3EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0009484HP:0004209Clinodactyly of the 5th finger3EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0009484HP:0004209Clinodactyly of the 5th finger3EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0009484HP:0004209Clinodactyly of the 5th finger3EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0009484HP:0004209Clinodactyly of the 5th finger3EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0009484HP:0009623Proximal placement of thumb3FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked.58
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0009484HP:0004209Clinodactyly of the 5th finger3FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009484HP:0009462Radial deviation of the 3rd finger3FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0009484HP:0009462Radial deviation of the 3rd finger3FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent175
HP:0009484HP:0009462Radial deviation of the 3rd finger3FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009484HP:0004209Clinodactyly of the 5th finger3FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent145
HP:0009484HP:0004209Clinodactyly of the 5th finger3FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0009484HP:0009623Proximal placement of thumb3FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040282 - Frequent493
HP:0009484HP:0009467Radial deviation of the 2nd finger3FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0009484HP:0001234Hitchhiker thumb3FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0009484HP:0004209Clinodactyly of the 5th finger3FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0009484HP:0004209Clinodactyly of the 5th finger3FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0009484HP:0004209Clinodactyly of the 5th finger3FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0009484HP:0009623Proximal placement of thumb3GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0009484HP:0004209Clinodactyly of the 5th finger3GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0009484HP:0004209Clinodactyly of the 5th finger3GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0009484HP:0004209Clinodactyly of the 5th finger3GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0009484HP:0004209Clinodactyly of the 5th finger3GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0009484HP:0004209Clinodactyly of the 5th finger3GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040282 - Frequent52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040283 - Occasional52
HP:0009484HP:0009467Radial deviation of the 2nd finger3GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0009484HP:0009463Ulnar deviation of the 3rd finger3GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040283 - Occasional52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0009484HP:0004209Clinodactyly of the 5th finger3GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0009484HP:0004209Clinodactyly of the 5th finger3GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0009484HP:0004209Clinodactyly of the 5th finger3GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009484HP:0004209Clinodactyly of the 5th finger3GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0009484HP:0004209Clinodactyly of the 5th finger3GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009484HP:0004059Radial club hand3GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0009484HP:0004209Clinodactyly of the 5th finger3GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0009484HP:0004209Clinodactyly of the 5th finger3GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009484HP:0004209Clinodactyly of the 5th finger3GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0009484HP:0004209Clinodactyly of the 5th finger3GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0009484HP:0004209Clinodactyly of the 5th finger3H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0009484HP:0004209Clinodactyly of the 5th finger3H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0009484HP:0004209Clinodactyly of the 5th finger3H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009484HP:0004209Clinodactyly of the 5th finger3H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0009484HP:0004209Clinodactyly of the 5th finger3HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0009484HP:0004209Clinodactyly of the 5th finger3HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0009484HP:0009623Proximal placement of thumb3HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0009484HP:0009623Proximal placement of thumb3HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0004209Clinodactyly of the 5th finger3HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009484HP:0040023Clinodactyly of the thumb3HEATR3 CL E G H5502726087OMIM:620072
HP:0009484HP:0004209Clinodactyly of the 5th finger3HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0009484HP:0004209Clinodactyly of the 5th finger3HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3HNRNPH1 CL E G H31875041OMIM:620083
HP:0009484HP:0004209Clinodactyly of the 5th finger3HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0040022Clinodactyly of the 2nd finger3HNRNPR CL E G H102365047OMIM:620073
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXA11 CL E G H32075101ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent3
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009484HP:0009623Proximal placement of thumb3HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0009484HP:0009623Proximal placement of thumb3HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXD13 CL E G H32395136ORPHA:93406Syndactyly type 5HP:0040283 - Occasional25
HP:0009484HP:0004209Clinodactyly of the 5th finger3HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0009484HP:0004209Clinodactyly of the 5th finger3HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0009484HP:0004209Clinodactyly of the 5th finger3IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0009484HP:0040022Clinodactyly of the 2nd finger3IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0004209Clinodactyly of the 5th finger3IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009484HP:0004209Clinodactyly of the 5th finger3IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0009484HP:0004209Clinodactyly of the 5th finger3IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0009484HP:0004209Clinodactyly of the 5th finger3IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0009484HP:0004209Clinodactyly of the 5th finger3IHH CL E G H35495956ORPHA:93388Brachydactyly type A1HP:0040283 - Occasional44
HP:0009484HP:0009462Radial deviation of the 3rd finger3IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009484HP:0009279Radial deviation of the 4th finger3IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009484HP:0009467Radial deviation of the 2nd finger3IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009484HP:0004209Clinodactyly of the 5th finger3IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0009484HP:0004209Clinodactyly of the 5th finger3IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0009484HP:0004209Clinodactyly of the 5th finger3IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0009484HP:0004209Clinodactyly of the 5th finger3JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0009484HP:0004209Clinodactyly of the 5th finger3JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0009484HP:0004209Clinodactyly of the 5th finger3JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional222
HP:0009484HP:0004209Clinodactyly of the 5th finger3KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0009484HP:0004209Clinodactyly of the 5th finger3KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0009484HP:0004209Clinodactyly of the 5th finger3KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0009484HP:0009623Proximal placement of thumb3KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0009484HP:0040025Clinodactyly of the 4th finger3KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040283 - Occasional127
HP:0009484HP:0004209Clinodactyly of the 5th finger3KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0009484HP:0004209Clinodactyly of the 5th finger3KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0009484HP:0004209Clinodactyly of the 5th finger3KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0009484HP:0004209Clinodactyly of the 5th finger3KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0009484HP:0004209Clinodactyly of the 5th finger3KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0009484HP:0004209Clinodactyly of the 5th finger3KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0009484HP:0004209Clinodactyly of the 5th finger3KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0009484HP:0004209Clinodactyly of the 5th finger3KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0009484HP:0004209Clinodactyly of the 5th finger3KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0009484HP:0004209Clinodactyly of the 5th finger3KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0009484HP:0004209Clinodactyly of the 5th finger3KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0009484HP:0004209Clinodactyly of the 5th finger3KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0009484HP:0040025Clinodactyly of the 4th finger3KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0009484HP:0040024Clinodactyly of the 3rd finger3KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0009484HP:0040022Clinodactyly of the 2nd finger3KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0009484HP:0004209Clinodactyly of the 5th finger3KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0009484HP:0004209Clinodactyly of the 5th finger3KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0009484HP:0004209Clinodactyly of the 5th finger3L1CAM CL E G H38976470ORPHA:2466MASA syndromeHP:0040282 - Frequent134
HP:0009484HP:0004209Clinodactyly of the 5th finger3LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0009484HP:0004209Clinodactyly of the 5th finger3LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0009484HP:0004209Clinodactyly of the 5th finger3LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0009484HP:0004209Clinodactyly of the 5th finger3LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0009484HP:0004209Clinodactyly of the 5th finger3LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0009484HP:0004209Clinodactyly of the 5th finger3LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0009484HP:0009623Proximal placement of thumb3LONP1 CL E G H93619479OMIM:600373CODAS syndromeHP:0040283 - Occasional8
HP:0009484HP:0004209Clinodactyly of the 5th finger3LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0009484HP:0004209Clinodactyly of the 5th finger3LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0009484HP:0004209Clinodactyly of the 5th finger3MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0009484HP:0004209Clinodactyly of the 5th finger3MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0009484HP:0004209Clinodactyly of the 5th finger3MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0009484HP:0004209Clinodactyly of the 5th finger3MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0009484HP:0004209Clinodactyly of the 5th finger3MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0009484HP:0004209Clinodactyly of the 5th finger3MECOM CL E G H21223498ORPHA:71289Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeHP:0040281 - Very frequent4
HP:0009484HP:0004209Clinodactyly of the 5th finger3MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0009484HP:0040022Clinodactyly of the 2nd finger3MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0009484HP:0004209Clinodactyly of the 5th finger3MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0009484HP:0040024Clinodactyly of the 3rd finger3MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0009484HP:0004209Clinodactyly of the 5th finger3MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0001234Hitchhiker thumb3MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009484HP:0004209Clinodactyly of the 5th finger3METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009484HP:0009623Proximal placement of thumb3MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0009484HP:0004209Clinodactyly of the 5th finger3MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0009484HP:0004209Clinodactyly of the 5th finger3MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0009484HP:0004209Clinodactyly of the 5th finger3MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0009484HP:0004209Clinodactyly of the 5th finger3MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0009484HP:0004209Clinodactyly of the 5th finger3MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0009484HP:0004209Clinodactyly of the 5th finger3NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0009484HP:0004209Clinodactyly of the 5th finger3NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0009484HP:0004209Clinodactyly of the 5th finger3NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0009484HP:0040025Clinodactyly of the 4th finger3NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040283 - Occasional34
HP:0009484HP:0004209Clinodactyly of the 5th finger3NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0009484HP:0004209Clinodactyly of the 5th finger3NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0009484HP:0004209Clinodactyly of the 5th finger3NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009484HP:0004209Clinodactyly of the 5th finger3NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0009484HP:0009623Proximal placement of thumb3NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0009484HP:0004209Clinodactyly of the 5th finger3NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0009484HP:0004209Clinodactyly of the 5th finger3NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009484HP:0009623Proximal placement of thumb3NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009484HP:0004209Clinodactyly of the 5th finger3NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0009484HP:0004209Clinodactyly of the 5th finger3NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0009484HP:0004209Clinodactyly of the 5th finger3NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0009484HP:0009623Proximal placement of thumb3NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0009484HP:0009623Proximal placement of thumb3NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009484HP:0004209Clinodactyly of the 5th finger3NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009484HP:0004209Clinodactyly of the 5th finger3NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040283 - Occasional22
HP:0009484HP:0004209Clinodactyly of the 5th finger3NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0009484HP:0004209Clinodactyly of the 5th finger3NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0009484HP:0004209Clinodactyly of the 5th finger3NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0009484HP:0004209Clinodactyly of the 5th finger3NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0009484HP:0004209Clinodactyly of the 5th finger3NUP37 CL E G H7902329929OMIM:618179Microcephaly 24, primary, autosomal recessive.
HP:0009484HP:0004209Clinodactyly of the 5th finger3NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040283 - Occasional143
HP:0009484HP:0004209Clinodactyly of the 5th finger3ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0009484HP:0004209Clinodactyly of the 5th finger3ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0009484HP:0004209Clinodactyly of the 5th finger3OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0009484HP:0004209Clinodactyly of the 5th finger3OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0009484HP:0004209Clinodactyly of the 5th finger3ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0009484HP:0004209Clinodactyly of the 5th finger3ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0009484HP:0004209Clinodactyly of the 5th finger3ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0009484HP:0004209Clinodactyly of the 5th finger3ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0009484HP:0004209Clinodactyly of the 5th finger3PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0009484HP:0004209Clinodactyly of the 5th finger3PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0009484HP:0004209Clinodactyly of the 5th finger3PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0009484HP:0004209Clinodactyly of the 5th finger3PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional231
HP:0009484HP:0004209Clinodactyly of the 5th finger3PAICS CL E G H106068587OMIM:619859
HP:0009484HP:0004209Clinodactyly of the 5th finger3PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0009484HP:0006055Ulnar deviated club hands3PCDHGC4 CL E G H560988717OMIM:619880
HP:0009484HP:0004209Clinodactyly of the 5th finger3PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0009484HP:0004209Clinodactyly of the 5th finger3PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0009484HP:0004209Clinodactyly of the 5th finger3PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0009484HP:0004209Clinodactyly of the 5th finger3PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0009484HP:0004209Clinodactyly of the 5th finger3PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0009484HP:0004209Clinodactyly of the 5th finger3PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0009484HP:0040025Clinodactyly of the 4th finger3PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0009484HP:0040022Clinodactyly of the 2nd finger3PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0009484HP:0040024Clinodactyly of the 3rd finger3PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0009484HP:0004209Clinodactyly of the 5th finger3PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0009484HP:0006190Radially deviated wrists3PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly.8
HP:0009484HP:0040024Clinodactyly of the 3rd finger3PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0009484HP:0004209Clinodactyly of the 5th finger3PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0009484HP:0004209Clinodactyly of the 5th finger3PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0009484HP:0004209Clinodactyly of the 5th finger3PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional103
HP:0009484HP:0004209Clinodactyly of the 5th finger3POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0009484HP:0004209Clinodactyly of the 5th finger3POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040283 - Occasional2
HP:0009484HP:0004209Clinodactyly of the 5th finger3PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0009484HP:0004209Clinodactyly of the 5th finger3PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0009484HP:0004209Clinodactyly of the 5th finger3PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0009484HP:0004209Clinodactyly of the 5th finger3PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009484HP:0004209Clinodactyly of the 5th finger3PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0009484HP:0004209Clinodactyly of the 5th finger3PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0009484HP:0004209Clinodactyly of the 5th finger3PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0009484HP:0004209Clinodactyly of the 5th finger3PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0009484HP:0009463Ulnar deviation of the 3rd finger3PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0009484HP:0009623Proximal placement of thumb3PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0009484HP:0009623Proximal placement of thumb3PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0009484HP:0004209Clinodactyly of the 5th finger3PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0009484HP:0004209Clinodactyly of the 5th finger3PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0009484HP:0004209Clinodactyly of the 5th finger3QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0009484HP:0009623Proximal placement of thumb3RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0009484HP:0009623Proximal placement of thumb3RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0009484HP:0004209Clinodactyly of the 5th finger3RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0009484HP:0004209Clinodactyly of the 5th finger3RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0009484HP:0004209Clinodactyly of the 5th finger3RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0009484HP:0004209Clinodactyly of the 5th finger3RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0009484HP:0004209Clinodactyly of the 5th finger3RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0009484HP:0004209Clinodactyly of the 5th finger3RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0009484HP:0004209Clinodactyly of the 5th finger3RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0009484HP:0004209Clinodactyly of the 5th finger3RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0009484HP:0004209Clinodactyly of the 5th finger3RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0009484HP:0004209Clinodactyly of the 5th finger3REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0009484HP:0004209Clinodactyly of the 5th finger3RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0009484HP:0004209Clinodactyly of the 5th finger3RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040283 - Occasional10
HP:0009484HP:0004209Clinodactyly of the 5th finger3RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0009484HP:0004209Clinodactyly of the 5th finger3RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0009484HP:0004209Clinodactyly of the 5th finger3RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0009484HP:0004209Clinodactyly of the 5th finger3RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0009484HP:0004209Clinodactyly of the 5th finger3ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0009484HP:0004209Clinodactyly of the 5th finger3RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0009484HP:0004209Clinodactyly of the 5th finger3RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0009484HP:0004209Clinodactyly of the 5th finger3RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0009484HP:0009623Proximal placement of thumb3RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0009484HP:0004209Clinodactyly of the 5th finger3RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0009484HP:0040024Clinodactyly of the 3rd finger3RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0009484HP:0004209Clinodactyly of the 5th finger3SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0009484HP:0004059Radial club hand3SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0009484HP:0004059Radial club hand3SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0009484HP:0004209Clinodactyly of the 5th finger3SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0009484HP:0004209Clinodactyly of the 5th finger3SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0009484HP:0004209Clinodactyly of the 5th finger3SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0009484HP:0004209Clinodactyly of the 5th finger3SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0009484HP:0004209Clinodactyly of the 5th finger3SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0009484HP:0004209Clinodactyly of the 5th finger3SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0009484HP:0004209Clinodactyly of the 5th finger3SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0009484HP:0009623Proximal placement of thumb3SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009484HP:0004209Clinodactyly of the 5th finger3SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0009484HP:0004209Clinodactyly of the 5th finger3SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0009484HP:0004209Clinodactyly of the 5th finger3SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009484HP:0009623Proximal placement of thumb3SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0009484HP:0009623Proximal placement of thumb3SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0004209Clinodactyly of the 5th finger3SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009484HP:0004209Clinodactyly of the 5th finger3SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0009484HP:0001234Hitchhiker thumb3SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0009484HP:0001234Hitchhiker thumb3SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0009484HP:0009623Proximal placement of thumb3SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0009484HP:0001234Hitchhiker thumb3SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0009484HP:0004209Clinodactyly of the 5th finger3SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0009484HP:0004209Clinodactyly of the 5th finger3SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0009484HP:0004209Clinodactyly of the 5th finger3SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0009484HP:0004209Clinodactyly of the 5th finger3SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0009484HP:0009623Proximal placement of thumb3SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0009484HP:0004209Clinodactyly of the 5th finger3SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0009484HP:0009623Proximal placement of thumb3SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0009484HP:0004209Clinodactyly of the 5th finger3SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0009484HP:0009623Proximal placement of thumb3SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0009484HP:0009623Proximal placement of thumb3SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0004209Clinodactyly of the 5th finger3SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009484HP:0004209Clinodactyly of the 5th finger3SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0009484HP:0004209Clinodactyly of the 5th finger3SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0009484HP:0004209Clinodactyly of the 5th finger3SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0009484HP:0040025Clinodactyly of the 4th finger3SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0009484HP:0004209Clinodactyly of the 5th finger3SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0009484HP:0004209Clinodactyly of the 5th finger3SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0009484HP:0004209Clinodactyly of the 5th finger3SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0009484HP:0004209Clinodactyly of the 5th finger3SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0009484HP:0004209Clinodactyly of the 5th finger3SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0009484HP:0004209Clinodactyly of the 5th finger3SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0009484HP:0004209Clinodactyly of the 5th finger3STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040283 - Occasional9
HP:0009484HP:0004209Clinodactyly of the 5th finger3STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0009484HP:0004209Clinodactyly of the 5th finger3STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0009484HP:0004209Clinodactyly of the 5th finger3TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0009484HP:0004209Clinodactyly of the 5th finger3TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0009484HP:0004209Clinodactyly of the 5th finger3TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0009484HP:0009623Proximal placement of thumb3TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009484HP:0004209Clinodactyly of the 5th finger3TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009484HP:0004209Clinodactyly of the 5th finger3TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0009484HP:0004209Clinodactyly of the 5th finger3TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0009484HP:0004209Clinodactyly of the 5th finger3TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0009484HP:0004209Clinodactyly of the 5th finger3TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040281 - Very frequent6
HP:0009484HP:0009464Ulnar deviation of the 2nd finger3TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0009484HP:0009467Radial deviation of the 2nd finger3TGDS CL E G H2348320324ORPHA:1388Catel-Manzke syndromeHP:0040283 - Occasional6
HP:0009484HP:0004209Clinodactyly of the 5th finger3TMEM147 CL E G H1043030414OMIM:620075
HP:0009484HP:0004209Clinodactyly of the 5th finger3TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0009623Proximal placement of thumb3TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0009484HP:0004209Clinodactyly of the 5th finger3TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040283 - Occasional214
HP:0009484HP:0004209Clinodactyly of the 5th finger3TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0009484HP:0004209Clinodactyly of the 5th finger3TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040281 - Very frequent18
HP:0009484HP:0004209Clinodactyly of the 5th finger3TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0009484HP:0004209Clinodactyly of the 5th finger3TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0009484HP:0004209Clinodactyly of the 5th finger3TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBA2 CL E G H1005430661OMIM:619959
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0009484HP:0004209Clinodactyly of the 5th finger3USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0009484HP:0004209Clinodactyly of the 5th finger3VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0009484HP:0004209Clinodactyly of the 5th finger3VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0009484HP:0004209Clinodactyly of the 5th finger3WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0009484HP:0004209Clinodactyly of the 5th finger3WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0009484HP:0004209Clinodactyly of the 5th finger3WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0009484HP:0004209Clinodactyly of the 5th finger3WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0009484HP:0004209Clinodactyly of the 5th finger3WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0009484HP:0004209Clinodactyly of the 5th finger3XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0009484HP:0004209Clinodactyly of the 5th finger3XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0009484HP:0004209Clinodactyly of the 5th finger3XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0009484HP:0004209Clinodactyly of the 5th finger3YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0009484HP:0004209Clinodactyly of the 5th finger3YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional14
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0009484HP:0009623Proximal placement of thumb3ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0009484HP:0009623Proximal placement of thumb3ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked.39
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0009484HP:0004209Clinodactyly of the 5th finger3ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0009623Proximal placement of thumb3ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0009484HP:0005769Fifth finger distal phalanx clinodactyly4GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68


Genes (499) :ABCC8 ABL1 ACVR1 ADGRG6 AFF2 AGO2 AKT1 ALDH1A2 ALG12 ALG9 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1B ARL6 ASXL3 ATG7 ATN1 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GLCT B9D2 BAP1 BAZ1B BBS1 BCL7B BCOR BCR BGN BHLHA9 BICD2 BLM BLTP1 BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12ORF57 CANT1 CASZ1 CBL CCDC28B CCDC32 CCDC8 CCNQ CD96 CDC42 CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHRNG CHST11 CHST3 CHSY1 CILK1 CITED2 CKAP2L CLCN3 CLIP2 CNOT2 CNOT3 CNTN1 COG5 COG7 COG8 COL11A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREBBP CRIPT CRKL CRLF1 CSGALNACT1 CTCF CTU2 CUL4B CUL7 DACT1 DEAF1 DHCR7 DHPS DLK1 DLX3 DNAJC30 DOK7 DONSON DPAGT1 DPF2 DPYSL5 DSP DVL1 DVL3 DYM EBP EFNB1 EFTUD2 EIF4A3 EIF4H ELN EMG1 EP300 EPB41L1 ERCC4 ESCO2 EVC EVC2 EXOC6B EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FGD1 FGF10 FGF16 FGFR2 FGFR3 FKBP6 FLII FLNA FLNB FLT4 FZD2 GABRD GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GLI3 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H19-ICR H3-3B H4C3 HDAC4 HDAC8 HEATR3 HERC2 HIC1 HMGA2 HNRNPH1 HNRNPR HOXA11 HOXA13 HOXD13 HPGD HRAS HSPG2 IFT122 IFT140 IFT43 IFT52 IGF1 IGF1R IGF2 IHH IKBKG IPW IQSEC2 IRX5 JAG1 JUP KAT6B KAT8 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNK4 KDM1A KDM4B KDM6B KDR KIAA0753 KIF7 KLF13 KMT2A KMT2B KNSTRN KPTN KRAS L1CAM LAMA5 LBR LEMD3 LIFR LIG4 LIMK1 LMBR1 LMNA LMNB2 LMX1B LONP1 LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2C1 MAP1B MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MED25 MEF2C MEG3 MEGF8 METTL27 MGAT2 MIA3 MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MOGS MRAS MUSK MYBPC1 MYCN MYH3 MYL11 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NARS2 NCF1 NEK1 NEK9 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NKX3-2 NOG NONO NPAP1 NPR2 NRAS NSD2 NSUN2 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OTUD5 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PAX3 PCDHGC4 PCNT PDE6D PDPN PEX1 PHF21A PHGDH PHIP PI4KA PIEZO2 PIGH PIGL PIGN PIGS PIGY PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLK4 PLOD3 PLXND1 PNPLA6 POLA1 PPP1R21 PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRKDC PRR12 PTEN PTF1A PTH1R PTPN11 PTRH2 PUF60 PWAR1 PWRN1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM28 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SAMD9 SATB2 SEMA3E SETBP1 SF3B4 SH3PXD2B SHANK3 SHH SHMT2 SHOX SIAH1 SIK3 SIN3A SKI SLC26A2 SLC2A10 SLC9A7 SLX4 SMAD4 SMARCA2 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPB SNRPN SOS1 SOS2 SOST SOX6 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP STAG1 STAG2 STX1A TBC1D24 TBL2 TBX1 TBX15 TBX22 TBX4 TBX5 TCF20 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TMEM147 TMEM216 TMEM270 TMEM94 TNNI2 TNNT3 TOPORS TP63 TPM2 TRAIP TRAPPC9 TRIO TRIP13 TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR19 WDR35 WDR4 WIPI2 WNT5A WNT7A XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZEB2 ZFPM2 ZIC3 ZMYM2 ZNF292 ZNF462

Diseases (467) :ORPHA:79134 OMIM:617602 ORPHA:337 OMIM:135100 OMIM:616503 ORPHA:100973 OMIM:619149 ORPHA:744 OMIM:620025 ORPHA:79324 ORPHA:79328 OMIM:263210 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:300373 OMIM:300990 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:619467 ORPHA:251056 OMIM:135900 OMIM:209900 OMIM:615485 OMIM:619422 OMIM:618494 OMIM:619910 ORPHA:79500 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 OMIM:615834 ORPHA:2725 ORPHA:93359 ORPHA:709 OMIM:261540 OMIM:614175 OMIM:619762 ORPHA:904 ORPHA:568 OMIM:309800 ORPHA:2712 ORPHA:261330 OMIM:300106 ORPHA:157801 OMIM:609432 OMIM:618291 OMIM:210900 OMIM:617822 ORPHA:93396 OMIM:112600 OMIM:617877 ORPHA:139471 OMIM:607932 OMIM:609441 ORPHA:93388 ORPHA:93384 OMIM:616849 OMIM:617755 OMIM:115150 OMIM:163950 OMIM:618056 ORPHA:84 OMIM:617883 ORPHA:199 OMIM:616202 ORPHA:1052 ORPHA:1777 OMIM:251450 ORPHA:1425 ORPHA:1606 ORPHA:648 OMIM:619123 ORPHA:2616 OMIM:614205 ORPHA:140952 OMIM:300707 ORPHA:1308 OMIM:211750 ORPHA:487796 OMIM:616737 ORPHA:2554 OMIM:619736 ORPHA:397590 OMIM:613823 OMIM:236500 OMIM:614114 ORPHA:138 ORPHA:199318 OMIM:612001 OMIM:265000 OMIM:618167 OMIM:143095 OMIM:605282 ORPHA:363417 OMIM:612651 ORPHA:3303 OMIM:272440 ORPHA:3255 OMIM:619512 OMIM:618608 OMIM:618672 OMIM:612540 ORPHA:263487 OMIM:608779 OMIM:611182 OMIM:228520 OMIM:154780 ORPHA:166002 OMIM:177170 ORPHA:2754 OMIM:277170 OMIM:618332 OMIM:180849 OMIM:615789 OMIM:272430 OMIM:618870 ORPHA:363611 OMIM:618142 ORPHA:85293 OMIM:273750 ORPHA:857 ORPHA:819 OMIM:270400 ORPHA:818 OMIM:618480 ORPHA:96334 ORPHA:3352 OMIM:618389 OMIM:617604 OMIM:608093 OMIM:618027 OMIM:619435 OMIM:609638 ORPHA:158687 ORPHA:3107 OMIM:180700 OMIM:223800 OMIM:300960 ORPHA:401973 ORPHA:1520 OMIM:304110 OMIM:610536 OMIM:268305 OMIM:194050 ORPHA:1270 OMIM:211180 OMIM:614257 OMIM:268300 ORPHA:3103 ORPHA:952 OMIM:193530 OMIM:616682 OMIM:277590 OMIM:314390 OMIM:121050 ORPHA:915 OMIM:305400 OMIM:149730 OMIM:309630 ORPHA:93259 ORPHA:794 OMIM:101400 OMIM:602849 ORPHA:1826 ORPHA:90650 OMIM:304120 OMIM:108721 OMIM:272460 ORPHA:251071 OMIM:187500 OMIM:113100 OMIM:228900 ORPHA:3250 OMIM:615298 ORPHA:2710 OMIM:257850 OMIM:612474 ORPHA:93322 OMIM:619503 ORPHA:373 ORPHA:2662 ORPHA:96182 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:619721 OMIM:619758 ORPHA:1001 OMIM:300882 OMIM:620072 OMIM:176270 ORPHA:531 ORPHA:94063 OMIM:620083 OMIM:620073 ORPHA:71289 OMIM:605432 ORPHA:2438 OMIM:140000 ORPHA:93406 OMIM:186000 ORPHA:1525 ORPHA:3071 ORPHA:1515 OMIM:218330 OMIM:266920 ORPHA:73272 OMIM:608747 OMIM:270450 OMIM:616489 OMIM:112500 ORPHA:464 OMIM:611174 ORPHA:3047 OMIM:618974 OMIM:611816 OMIM:170390 OMIM:618381 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:618505 OMIM:200990 OMIM:605130 ORPHA:319182 ORPHA:589618 ORPHA:221139 ORPHA:397612 OMIM:615637 ORPHA:2466 OMIM:620076 OMIM:215140 OMIM:601559 ORPHA:235 ORPHA:99812 ORPHA:93321 ORPHA:79474 OMIM:619180 OMIM:161200 ORPHA:2614 OMIM:600373 OMIM:619451 ORPHA:1275 OMIM:619004 ORPHA:1272 OMIM:166300 ORPHA:397941 OMIM:614202 OMIM:619775 OMIM:618918 OMIM:617137 OMIM:618443 OMIM:616734 OMIM:257920 ORPHA:228402 OMIM:156200 ORPHA:1596 OMIM:616738 OMIM:300260 ORPHA:93932 OMIM:300895 OMIM:305450 ORPHA:464738 OMIM:613443 OMIM:614976 OMIM:212066 OMIM:619269 OMIM:249000 OMIM:606056 ORPHA:79330 OMIM:208150 ORPHA:1146 ORPHA:391641 OMIM:193700 OMIM:618436 ORPHA:2053 ORPHA:1147 OMIM:619110 ORPHA:1358 OMIM:618975 OMIM:300855 OMIM:619717 ORPHA:2751 OMIM:617022 OMIM:300912 OMIM:602535 ORPHA:319675 OMIM:122470 OMIM:613330 OMIM:611377 OMIM:186500 OMIM:186570 ORPHA:466791 OMIM:615923 OMIM:619695 OMIM:618179 ORPHA:1507 OMIM:619075 ORPHA:544488 OMIM:311200 ORPHA:2750 OMIM:300209 OMIM:300997 ORPHA:67036 OMIM:224690 OMIM:301056 ORPHA:329224 OMIM:618067 ORPHA:217385 OMIM:619859 OMIM:122880 ORPHA:1529 OMIM:619880 ORPHA:2637 OMIM:210720 OMIM:214100 OMIM:618725 OMIM:256520 ORPHA:589905 OMIM:619708 OMIM:616531 OMIM:114300 ORPHA:1154 ORPHA:376 OMIM:618010 OMIM:280000 ORPHA:2059 OMIM:618143 OMIM:616809 OMIM:269880 OMIM:186550 OMIM:618821 OMIM:612394 ORPHA:570 ORPHA:1173 OMIM:301030 ORPHA:163976 OMIM:619383 OMIM:616362 ORPHA:457284 OMIM:309500 OMIM:619143 OMIM:615966 OMIM:619539 OMIM:609069 OMIM:156400 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:617982 OMIM:614222 OMIM:201000 ORPHA:1387 OMIM:614701 OMIM:613390 ORPHA:1587 OMIM:606744 OMIM:612079 ORPHA:157954 ORPHA:3320 OMIM:274000 OMIM:616975 OMIM:226960 ORPHA:2636 OMIM:616651 ORPHA:353298 OMIM:268310 OMIM:300998 ORPHA:459070 OMIM:618624 ORPHA:457395 ORPHA:1452 ORPHA:959 OMIM:607323 OMIM:617053 ORPHA:251019 ORPHA:251028 ORPHA:576283 ORPHA:798 OMIM:154400 ORPHA:137834 ORPHA:48652 OMIM:606232 OMIM:619121 ORPHA:2632 ORPHA:240 OMIM:619314 OMIM:618162 ORPHA:94065 OMIM:613406 ORPHA:56304 OMIM:256050 ORPHA:628 OMIM:222600 ORPHA:93307 ORPHA:3342 OMIM:301024 OMIM:139210 OMIM:619293 OMIM:300590 OMIM:610759 ORPHA:1106 ORPHA:1393 OMIM:117650 ORPHA:177907 OMIM:269500 OMIM:618971 ORPHA:1519 OMIM:618828 OMIM:618829 ORPHA:137605 OMIM:136140 ORPHA:502434 OMIM:301022 OMIM:220500 OMIM:260660 ORPHA:921 ORPHA:261279 OMIM:142900 OMIM:618430 ORPHA:2896 ORPHA:488642 OMIM:113620 OMIM:169100 ORPHA:46627 ORPHA:1388 OMIM:616145 OMIM:620075 OMIM:618316 OMIM:601680 OMIM:618435 ORPHA:1896 ORPHA:69085 OMIM:108120 ORPHA:352530 OMIM:617061 ORPHA:476126 ORPHA:77258 OMIM:113500 OMIM:606835 ORPHA:2635 OMIM:618454 OMIM:200110 OMIM:209885 OMIM:619959 ORPHA:238446 OMIM:244450 OMIM:243800 OMIM:616863 ORPHA:193 OMIM:618347 OMIM:618453 OMIM:228930 OMIM:602531 ORPHA:3454 OMIM:314580 OMIM:301041 ORPHA:261552 ORPHA:261537 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.