Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
expand
Abnormal digit morphology (HP:0011297)help
..Starting node
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001217HP:0001217Clubbing0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001217HP:0001217Clubbing0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001217HP:0001217Clubbing0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0001217HP:0001217Clubbing0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001217HP:0001217Clubbing0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM11225203755603381
HP:0001217HP:0001217Clubbing0HPGD CL E G H3248119900Digital clubbing, isolated congenital119900C0345408OMIM1181455154601688
HP:0001217HP:0001217Clubbing0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181455154601688
HP:0001217HP:0001217Clubbing0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001217HP:0001217Clubbing0SFTPA2 CL E G H729238178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM183310799178642
HP:0001217HP:0001217Clubbing0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM13110110801178640
HP:0001217HP:0001217Clubbing0SFTPC CL E G H6440178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM18713510802178620
HP:0001217HP:0001217Clubbing0SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM18713510802178620
HP:0001217HP:0001217Clubbing0SLCO2A1 CL E G H6578614441Primary hypertrophic osteoarthropathy, autosomal recessive 2614441C3280800OMIM1766510955601460
HP:0001217HP:0001217Clubbing0SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM123918398612761
HP:0001217HP:0001217Clubbing0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1466164311389602216
HP:0001217HP:0001217Clubbing0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001217HP:0001217Clubbing0TERT CL E G H7015178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM1173115911730187270
HP:0001217HP:0001217Clubbing1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001217HP:0001217Clubbing1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001217HP:0001217Clubbing1CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0001217HP:0001217Clubbing1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001217HP:0001217Clubbing1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM11225203755603381
HP:0001217HP:0001217Clubbing1HPGD CL E G H3248119900Digital clubbing, isolated congenital119900C0345408OMIM1181455154601688
HP:0001217HP:0001217Clubbing1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181455154601688
HP:0001217HP:0001217Clubbing1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0001217HP:0001217Clubbing1SFTPA2 CL E G H729238178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM183310799178642
HP:0001217HP:0001217Clubbing1SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM13110110801178640
HP:0001217HP:0001217Clubbing1SFTPC CL E G H6440178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM18713510802178620
HP:0001217HP:0001217Clubbing1SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM18713510802178620
HP:0001217HP:0001217Clubbing1SLCO2A1 CL E G H6578614441Primary hypertrophic osteoarthropathy, autosomal recessive 2614441C3280800OMIM1766510955601460
HP:0001217HP:0001217Clubbing1SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM123918398612761
HP:0001217HP:0001217Clubbing1STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1466164311389602216
HP:0001217HP:0001217Clubbing1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001217HP:0001217Clubbing1TERT CL E G H7015178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM1173115911730187270
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001217HP:0001217Clubbing0ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM013629414637607800
HP:0001217HP:0001217Clubbing0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM014112071076601299
HP:0001217HP:0001217Clubbing0KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM066666413148080
HP:0001217HP:0001217Clubbing0SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM014712576770600993
HP:0001217HP:0001217Clubbing0SMAD4 CL E G H4089175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050C1832942OMIM014712576770600993
HP:0001217HP:0001217Clubbing1ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM013629414637607800
HP:0001217HP:0001217Clubbing1BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM014112071076601299
HP:0001217HP:0001217Clubbing1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM066666413148080
HP:0001217HP:0001217Clubbing1SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM014712576770600993
HP:0001217HP:0001217Clubbing1SMAD4 CL E G H4089175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050C1832942OMIM014712576770600993


Genes (60) :ABCA12 ABCA3 ACVRL1 ATP11A BMPR1A BRCA1 BRCA2 BRIP1 CD55 CDC45 DPP9 DSP ENG ERCC4 FAM13A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FLNB GJB6 HPGD INTU KRT10 LRBA MAD2L2 MARS MUC5B PALB2 PARN PIGL PSMB8 PTH1R RAD51 RAD51C RFWD3 RHBDF2 RTEL1 SFTPA1 SFTPA2 SFTPB SFTPC SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCAD1 STK11 STN1 TCF4 TERC TERT UBE2T XRCC2

Diseases (32) :601277 600376 174900 226300 617063 187300 108720 119900 259100 609165 615486 178500 265120 610913 614441 175050 136000 175200 610954 2032 84 189 1525 2796 617926 614700 3474 2615 256040 156400 2198 3051
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.