Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of finger (HP:0001167)help
..Starting node
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Abnormal fingertip morphology (HP:0001211)help
Term ID: 1211
Name: Abnormal fingertip morphology
Synonym: Abnormality of the fingertips
Definition: An abnormal structure of the tip (end) of a finger.
Comments:
Reference: HP:0001211
Genes and Diseases:
 
       Child Nodes:
........expandProminent fingertip pads (HP:0001212) help
........expandBroad fingertip (HP:0011300) help
........expandClubbing of fingers (HP:0100759) help

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal 5th finger morphology (HP:0004207) help
..expandAbnormal finger flexion creases (HP:0006143) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal thumb morphology (HP:0001172) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandBroad finger (HP:0001500) help
..expandChilblains (HP:0009710) help
..expandCurved fingers (HP:0004095) help
..expandDeviation of finger (HP:0004097) help
..expandFinger dactylitis (HP:0031090) help
..expandFinger joint hypermobility (HP:0006094) help
..expandFinger swelling (HP:0025131) help
..expandLong fingers (HP:0100807) help
..expandMacrodactyly of finger (HP:0100746) help
..expandMallet finger (HP:0030771) help
..expandSlender finger (HP:0001238) help
..expandSpindle-shaped finger (HP:0031092) help
..expandSplayed fingers (HP:0030029) help
..expandSwan neck-like deformities of the fingers (HP:0006150) help
..expandTrident hand (HP:0004060) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001211HP:0001211Abnormal fingertip morphology0PTH1R CL E G H574579106ORPHA1451009608168468
HP:0001211HP:0001211Abnormal fingertip morphology0ZMPSTE24 CL E G H1026990154ORPHA13413612877606480
HP:0001211HP:0001211Abnormal fingertip morphology1PTH1R CL E G H574579106ORPHA1451009608168468
HP:0001211HP:0001211Abnormal fingertip morphology1ZMPSTE24 CL E G H1026990154ORPHA13413612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001211HP:0001211Abnormal fingertip morphology0CHD1 CL E G H1105529965ORPHA08391915602118
HP:0001211HP:0001211Abnormal fingertip morphology1CHD1 CL E G H1105529965ORPHA08391915602118


Genes (32) :ABCA3 ATP11A CHD1 CREBBP DPP9 DSP EMC1 EP300 EZH2 FAM13A INTU KANSL1 KDM6A KMT2D LRBA MED12 MUC5B PARN PSMB8 PTH1R RAB3GAP2 RTEL1 SFTPA1 SFTPA2 SFTPC STK11 STN1 TBL1XR1 TCF4 TERC TERT ZMPSTE24

Diseases (21) :529965 79106 90154 2032 180849 616875 277590 617926 610443 147920 300867 614700 305450 2615 256040 156400 212720 178500 175200 602342 2896
 

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