Human Phenotype Ontology 
Grandparent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
Parent Node:
expandAbnormality of thumb phalanx (HP:0009602)help
Parent Node:
expandBullet-shaped phalanges of the hand (HP:0009769)help
..Starting node
..expandBullet-shaped thumb phalanx (HP:0009652)help
Term ID: 9652
Name: Bullet-shaped thumb phalanx
Synonym: Bullet-shaped phalanges of the thumb; Bullet-shaped thumb bone
Definition: An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Comments:
Reference: HP:0009652
Genes and Diseases:
 
       Child Nodes:
........expandBullet-shaped proximal phalanx of the thumb (HP:0009631) help
........expandBullet-shaped distal phalanx of the thumb (HP:0009643) help

 Sister Nodes: 
..expandBullet-shaped distal phalanges of the hand (HP:0009837) help
..expandBullet-shaped middle phalanges of the hand (HP:0009845) help
..expandBullet-shaped phalanges of the 2nd finger (HP:0009548) help
..expandBullet-shaped phalanges of the 3rd finger (HP:0009441) help
..expandBullet-shaped phalanges of the 4th finger (HP:0009405) help
..expandBullet-shaped phalanges of the 5th finger (HP:0009375) help
..expandBullet-shaped proximal phalanges of the hand (HP:0009853) 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:0009652HP:0009652Bullet-shaped thumb phalanx0 CL E G H
HP:0009652HP:0009631Bullet-shaped proximal phalanx of the thumb1 CL E G H
HP:0009652HP:0009643Bullet-shaped distal phalanx of the thumb1 CL E G H


Genes (0) :

Diseases (0) :
 

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