Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Parent Node:
expandAbnormal distal phalanx morphology of finger (HP:0009832)help
..Starting node
..expandSlender distal phalanx of finger (HP:0012296)help
Term ID: 12296
Name: Slender distal phalanx of finger
Synonym: Slender outermost bone of finger
Definition: Reduced diameter of the distal phalanx of finger.
Comments:
Reference: HP:0012296
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
..expandDrumstick terminal phalanges (HP:0006129) 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
..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:0012296HP:0012296Slender distal phalanx of finger0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14


Genes (1) :KIF22

Diseases (1) :OMIM:603546
 

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