Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
..Starting node
..expand
Clubbing (HP:0001217)help
Term ID: 1217
Name: Clubbing
Synonym: Clubbing of fingers and toes; Digital clubbing
Definition: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Comments:
Reference: HP:0001217
Genes and Diseases:
 
       Child Nodes:
........expandClubbing of fingers (HP:0100759) help
........expandClubbing of toes (HP:0100760) help

 Sister Nodes: 
..expandAbnormality of finger (HP:0001167) help
..expandAbnormality of toe (HP:0001780) help
..expandBroad phalanx (HP:0006009) help
..expandClinodactyly (HP:0030084) help
..expandMacrodactyly (HP:0004099) help
..expandOligodactyly (HP:0012165) help
..expandPolydactyly (HP:0010442) help
..expandShort digit (HP:0011927) help
..expandSyndactyly (HP:0001159) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001217HP:0001217Clubbing0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4AHP:0040283 - Occasional130
HP:0001217HP:0001217Clubbing0ABCA3 CL E G H2133ORPHA:2032Idiopathic pulmonary fibrosis147
HP:0001217HP:0001217Clubbing0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0001217HP:0001217Clubbing0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0001217HP:0001217Clubbing0ATP11A CL E G H2325013552ORPHA:2032Idiopathic pulmonary fibrosis
HP:0001217HP:0001217Clubbing0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0001217HP:0001217Clubbing0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndromeHP:0040283 - Occasional385
HP:0001217HP:0001217Clubbing0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0001217HP:0001217Clubbing0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0001217HP:0001217Clubbing0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0001217HP:0001217Clubbing0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0001217HP:0001217Clubbing0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional36
HP:0001217HP:0001217Clubbing0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional126
HP:0001217HP:0001217Clubbing0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional182
HP:0001217HP:0001217Clubbing0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0001217HP:0001217Clubbing0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0001217HP:0001217Clubbing0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0001217HP:0001217Clubbing0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0001217HP:0001217Clubbing0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001217HP:0001217Clubbing0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040284 - Very rare1371
HP:0001217HP:0001217Clubbing0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional116
HP:0001217HP:0001217Clubbing0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional78
HP:0001217HP:0001217Clubbing0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional63
HP:0001217HP:0001217Clubbing0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional27
HP:0001217HP:0001217Clubbing0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional62
HP:0001217HP:0001217Clubbing0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0001217HP:0001217Clubbing0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional542
HP:0001217HP:0001217Clubbing0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional527
HP:0001217HP:0001217Clubbing0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional18
HP:0001217HP:0001217Clubbing0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional73
HP:0001217HP:0001217Clubbing0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional104
HP:0001217HP:0001217Clubbing0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional2
HP:0001217HP:0001217Clubbing0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional167
HP:0001217HP:0001217Clubbing0DPP9 CL E G H9103918648ORPHA:2032Idiopathic pulmonary fibrosis
HP:0001217HP:0001217Clubbing0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional44
HP:0001217HP:0001217Clubbing0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0001217HP:0001217Clubbing0DSP CL E G H18323052ORPHA:2032Idiopathic pulmonary fibrosis747
HP:0001217HP:0001217Clubbing0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0001217HP:0001217Clubbing0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001217HP:0001217Clubbing0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001217HP:0001217Clubbing0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001217HP:0001217Clubbing0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0001217HP:0001217Clubbing0FAM13A CL E G H1014419367ORPHA:2032Idiopathic pulmonary fibrosis
HP:0001217HP:0001217Clubbing0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0001217HP:0001217Clubbing0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0001217HP:0001217Clubbing0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0001217HP:0001217Clubbing0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0001217HP:0001217Clubbing0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0001217HP:0001217Clubbing0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0001217HP:0001217Clubbing0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0001217HP:0001217Clubbing0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0001217HP:0001217Clubbing0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0001217HP:0001217Clubbing0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0001217HP:0001217Clubbing0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001217HP:0001217Clubbing0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0001217HP:0001217Clubbing0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional1
HP:0001217HP:0001217Clubbing0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional9
HP:0001217HP:0001217Clubbing0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0001217HP:0001217Clubbing0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001217HP:0001217Clubbing0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001217HP:0001217Clubbing0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040282 - Frequent2
HP:0001217HP:0001217Clubbing0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0001217HP:0001217Clubbing0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001217HP:0001217Clubbing0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathy55
HP:0001217HP:0001217Clubbing0HPGD CL E G H32485154OMIM:119900DIGITAL CLUBBING, ISOLATED CONGENITAL55
HP:0001217HP:0001217Clubbing0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0001217HP:0001217Clubbing0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001217HP:0001217Clubbing0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0001217HP:0001217Clubbing0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0001217HP:0001217Clubbing0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0001217HP:0001217Clubbing0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0001217HP:0001217Clubbing0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0001217HP:0001217Clubbing0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001217HP:0001217Clubbing0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001217HP:0001217Clubbing0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0001217HP:0001217Clubbing0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0001217HP:0001217Clubbing0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0001217HP:0001217Clubbing0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001217HP:0001217Clubbing0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001217HP:0001217Clubbing0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0001217HP:0001217Clubbing0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0001217HP:0001217Clubbing0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional13
HP:0001217HP:0001217Clubbing0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001217HP:0001217Clubbing0MUC5B CL E G H7278977516ORPHA:2032Idiopathic pulmonary fibrosis133
HP:0001217HP:0001217Clubbing0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0001217HP:0001217Clubbing0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001217HP:0001217Clubbing0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0001217HP:0001217Clubbing0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional50
HP:0001217HP:0001217Clubbing0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional201
HP:0001217HP:0001217Clubbing0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0001217HP:0001217Clubbing0PARN CL E G H50738609ORPHA:2032Idiopathic pulmonary fibrosis26
HP:0001217HP:0001217Clubbing0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0001217HP:0001217Clubbing0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001217HP:0001217Clubbing0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001217HP:0001217Clubbing0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001217HP:0001217Clubbing0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancy948
HP:0001217HP:0001217Clubbing0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0001217HP:0001217Clubbing0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0001217HP:0001217Clubbing0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0001217HP:0001217Clubbing0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001217HP:0001217Clubbing0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0001217HP:0001217Clubbing0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0001217HP:0001217Clubbing0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001217HP:0001217Clubbing0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional200
HP:0001217HP:0001217Clubbing0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional31
HP:0001217HP:0001217Clubbing0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional5
HP:0001217HP:0001217Clubbing0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional58
HP:0001217HP:0001217Clubbing0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0001217HP:0001217Clubbing0RTEL1 CL E G H5175015888ORPHA:2032Idiopathic pulmonary fibrosis77
HP:0001217HP:0001217Clubbing0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040284 - Very rare67
HP:0001217HP:0001217Clubbing0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040284 - Very rare61
HP:0001217HP:0001217Clubbing0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040284 - Very rare57
HP:0001217HP:0001217Clubbing0SFTPA1 CL E G H65350910798ORPHA:2032Idiopathic pulmonary fibrosis19
HP:0001217HP:0001217Clubbing0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0001217HP:0001217Clubbing0SFTPA2 CL E G H72923810799ORPHA:2032Idiopathic pulmonary fibrosis10
HP:0001217HP:0001217Clubbing0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0001217HP:0001217Clubbing0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 1.51
HP:0001217HP:0001217Clubbing0SFTPC CL E G H644010802ORPHA:2032Idiopathic pulmonary fibrosis33
HP:0001217HP:0001217Clubbing0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0001217HP:0001217Clubbing0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0001217HP:0001217Clubbing0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasis7
HP:0001217HP:0001217Clubbing0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001217HP:0001217Clubbing0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0001217HP:0001217Clubbing0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0001217HP:0001217Clubbing0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0001217HP:0001217Clubbing0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0001217HP:0001217Clubbing0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndromeHP:0040283 - Occasional504
HP:0001217HP:0001217Clubbing0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0001217HP:0001217Clubbing0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0001217HP:0001217Clubbing0SMARCAD1 CL E G H5691618398OMIM:136000Fingerprints, absence of.6
HP:0001217HP:0001217Clubbing0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional45
HP:0001217HP:0001217Clubbing0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional15
HP:0001217HP:0001217Clubbing0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0001217HP:0001217Clubbing0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional3
HP:0001217HP:0001217Clubbing0STN1 CL E G H7999126200ORPHA:2032Idiopathic pulmonary fibrosis2
HP:0001217HP:0001217Clubbing0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0001217HP:0001217Clubbing0TERC CL E G H701211727ORPHA:2032Idiopathic pulmonary fibrosis48
HP:0001217HP:0001217Clubbing0TERT CL E G H701511730ORPHA:2032Idiopathic pulmonary fibrosis238
HP:0001217HP:0001217Clubbing0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001217HP:0001217Clubbing0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0001217HP:0001217Clubbing0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001217HP:0001217Clubbing0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0001217HP:0001217Clubbing0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0001217HP:0001217Clubbing0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0001217HP:0001217Clubbing0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0001217HP:0001217Clubbing0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001217HP:0001217Clubbing0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001217HP:0001217Clubbing0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0001217HP:0001217Clubbing0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0001217HP:0100759Clubbing of fingers1ABCA3 CL E G H2133ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent147
HP:0001217HP:0100759Clubbing of fingers1ATP11A CL E G H2325013552ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0001217HP:0100759Clubbing of fingers1BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0001217HP:0100760Clubbing of toes1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001217HP:0100760Clubbing of toes1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001217HP:0100760Clubbing of toes1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001217HP:0100759Clubbing of fingers1CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0001217HP:0100759Clubbing of fingers1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001217HP:0100759Clubbing of fingers1DPP9 CL E G H9103918648ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0001217HP:0100759Clubbing of fingers1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0001217HP:0100759Clubbing of fingers1DSP CL E G H18323052ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent747
HP:0001217HP:0100759Clubbing of fingers1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0001217HP:0100760Clubbing of toes1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0001217HP:0100759Clubbing of fingers1FAM13A CL E G H1014419367ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent
HP:0001217HP:0100760Clubbing of toes1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0001217HP:0100760Clubbing of toes1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0001217HP:0100760Clubbing of toes1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0001217HP:0100760Clubbing of toes1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0001217HP:0100760Clubbing of toes1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001217HP:0100760Clubbing of toes1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0001217HP:0100760Clubbing of toes1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001217HP:0100760Clubbing of toes1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0001217HP:0100760Clubbing of toes1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0001217HP:0100760Clubbing of toes1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0001217HP:0100759Clubbing of fingers1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001217HP:0100759Clubbing of fingers1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0001217HP:0100760Clubbing of toes1HNRNPH1 CL E G H31875041OMIM:620083
HP:0001217HP:0100759Clubbing of fingers1HNRNPH1 CL E G H31875041OMIM:620083
HP:0001217HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040282 - Frequent55
HP:0001217HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001217HP:0100759Clubbing of fingers1HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001217HP:0100760Clubbing of toes1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0001217HP:0100759Clubbing of fingers1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0001217HP:0100759Clubbing of fingers1IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0001217HP:0100759Clubbing of fingers1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001217HP:0100759Clubbing of fingers1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001217HP:0100759Clubbing of fingers1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001217HP:0100760Clubbing of toes1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0001217HP:0100759Clubbing of fingers1MUC5B CL E G H7278977516ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent133
HP:0001217HP:0100759Clubbing of fingers1MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0001217HP:0100759Clubbing of fingers1NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001217HP:0100759Clubbing of fingers1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0001217HP:0100760Clubbing of toes1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0001217HP:0100759Clubbing of fingers1PARN CL E G H50738609ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent26
HP:0001217HP:0100760Clubbing of toes1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0001217HP:0100759Clubbing of fingers1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms.20
HP:0001217HP:0100759Clubbing of fingers1PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0001217HP:0100759Clubbing of fingers1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0001217HP:0100760Clubbing of toes1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0001217HP:0100760Clubbing of toes1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0001217HP:0100759Clubbing of fingers1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001217HP:0100760Clubbing of toes1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0001217HP:0100760Clubbing of toes1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040283 - Occasional80
HP:0001217HP:0100759Clubbing of fingers1RTEL1 CL E G H5175015888ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent77
HP:0001217HP:0100759Clubbing of fingers1SFTPA1 CL E G H65350910798ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent19
HP:0001217HP:0100759Clubbing of fingers1SFTPA2 CL E G H72923810799ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent10
HP:0001217HP:0100759Clubbing of fingers1SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0001217HP:0100759Clubbing of fingers1SFTPC CL E G H644010802ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent33
HP:0001217HP:0100759Clubbing of fingers1SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0001217HP:0100759Clubbing of fingers1SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040283 - Occasional7
HP:0001217HP:0100759Clubbing of fingers1SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001217HP:0100759Clubbing of fingers1SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0001217HP:0100760Clubbing of toes1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0001217HP:0100760Clubbing of toes1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0001217HP:0100760Clubbing of toes1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0001217HP:0100759Clubbing of fingers1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0001217HP:0100759Clubbing of fingers1STN1 CL E G H7999126200ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent2
HP:0001217HP:0100759Clubbing of fingers1TERC CL E G H701211727ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent48
HP:0001217HP:0100759Clubbing of fingers1TERT CL E G H701511730ORPHA:2032Idiopathic pulmonary fibrosisHP:0040282 - Frequent238
HP:0001217HP:0100759Clubbing of fingers1TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001217HP:0100759Clubbing of fingers1TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0001217HP:0100759Clubbing of fingers1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001217HP:0100759Clubbing of fingers1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0001217HP:0100760Clubbing of toes1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0001217HP:0100760Clubbing of toes1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0001217HP:0100760Clubbing of toes1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0001217HP:0100760Clubbing of toes1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125


Genes (144) :ABCA12 ABCA3 ACVRL1 ATP11A BMPR1A BRCA1 BRCA2 BRIP1 BTNL2 CARS1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD55 CDC45 CFAP221 CFAP298 CFAP300 CFTR DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPP9 DRC1 DSP EIF2AK4 ENG ERCC2 ERCC3 ERCC4 FAM13A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FCGR2A FLNB FOXJ1 GAS2L2 GAS8 GJB6 GTF2E2 GTF2H5 HLA-DRB1 HNRNPH1 HPGD HSPG2 HYDIN IL21 IL6ST INTU JAG1 KRT1 KRT16 KRT9 LIFR LRBA LRRC56 MAD2L2 MARS1 MCIDAS MPLKIP MUC5B NCKAP1L NEK10 NLRP3 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PALB2 PARN PIGL POLA1 PRKACB PSMB8 PTEN PTH1R RAD51 RAD51C RASGRP1 RFWD3 RHBDF2 RNF113A RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SCNN1A SCNN1B SCNN1G SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC5A6 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCAD1 SPAG1 SPEF2 STK11 STK36 STN1 TARS1 TCF4 TERC TERT TGFB1 TLL1 TTC12 UBE2A UBE2T VPS33A VPS51 XRCC2 ZMYND10

Diseases (63) :OMIM:601277 ORPHA:2032 OMIM:610921 OMIM:600376 ORPHA:79076 OMIM:174900 ORPHA:84 OMIM:612387 ORPHA:33364 ORPHA:244 OMIM:226300 OMIM:617063 OMIM:219700 ORPHA:60033 OMIM:605676 ORPHA:199241 OMIM:187300 OMIM:108720 ORPHA:189 ORPHA:747 OMIM:181000 OMIM:620083 ORPHA:1525 OMIM:119900 OMIM:259100 ORPHA:217059 ORPHA:2796 ORPHA:1865 OMIM:615767 OMIM:618523 OMIM:617926 OMIM:619574 ORPHA:2199 OMIM:601559 OMIM:614700 OMIM:615486 OMIM:178500 OMIM:618982 OMIM:191900 ORPHA:3474 OMIM:301220 OMIM:619143 OMIM:256040 OMIM:156400 OMIM:618534 ORPHA:2198 OMIM:619611 OMIM:265120 OMIM:610913 ORPHA:60025 OMIM:618973 OMIM:167100 OMIM:614441 OMIM:175050 ORPHA:3051 OMIM:136000 OMIM:175200 OMIM:610954 OMIM:614742 ORPHA:99106 ORPHA:163956 OMIM:617303 OMIM:618606
 

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