Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormal distal phalanx morphology of finger (HP:0009832)help
..Starting node
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Drumstick terminal phalanges (HP:0006129)help
Term ID: 6129
Name: Drumstick terminal phalanges
Synonym: Drumstick shaped digital bones
Definition: Rounding and broadening of the tufts of the distal phalanges.
Comments:
Reference: HP:0006129
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphyses of the distal phalanx of finger (HP:0010243) help
..expandAplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835) help
..expandBroad distal phalanx of finger (HP:0009836) help
..expandBullet-shaped distal phalanges of the hand (HP:0009837) help
..expandChess-pawn distal phalanges (HP:0006170) help
..expandCurved distal phalanges of the hand (HP:0009838) help
..expandDistal symphalangism of hands (HP:0001204) help
..expandDuplication of the distal phalanx of hand (HP:0009883) help
..expandLong distal phalanx of finger (HP:0012299) help
..expandOsteolytic defects of the distal phalanges of the hand (HP:0009839) help
..expandSclerosis of distal finger phalanx (HP:0100915) help
..expandSlender distal phalanx of finger (HP:0012296) help
..expandTapered distal phalanges of finger (HP:0009884) help
..expandTriangular shaped distal phalanges of the hand (HP:0009875) 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:0006129HP:0006129Drumstick terminal phalanges0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0006129HP:0006129Drumstick terminal phalanges0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0006129HP:0006129Drumstick terminal phalanges0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65


Genes (3) :FTO IARS1 RPS6KA3

Diseases (3) :OMIM:612938 ORPHA:541423 OMIM:303600
 

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