Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of finger (HP:0001167)help
Parent Node:
expandAbnormal finger phalanx morphology (HP:0005918)help
..Starting node
..expandBullet-shaped phalanges of the hand (HP:0009769)help
Term ID: 9769
Name: Bullet-shaped phalanges of the hand
Synonym: Bullet-shaped hand bones; Bullet-shaped phalanges of the hands; Conical bullet-shaped distal ends of phalanges
Definition: The presence of short and wide phalanges which taper distally ("bullet shaped").
Comments:
Reference: HP:0009769
Genes and Diseases:
 
       Child Nodes:
........expandBullet-shaped phalanges of the 5th finger (HP:0009375) help
................... HP:0009168 Bullet-shaped middle phalanx of the 5th finger
................... HP:0009228 Bullet-shaped proximal phalanx of the 5th finger
................... HP:0009241 Bullet-shaped distal phalanx of the 5th finger
........expandBullet-shaped phalanges of the 4th finger (HP:0009405) help
................... HP:0009296 Bullet-shaped middle phalanx of the 4th finger
................... HP:0009302 Bullet-shaped distal phalanx of the 4th finger
................... HP:0009311 Bullet-shaped proximal phalanx of the 4th finger
........expandBullet-shaped phalanges of the 3rd finger (HP:0009441) help
................... HP:0009423 Bullet-shaped distal phalanx of the 3rd finger
................... HP:0009431 Bullet-shaped middle phalanx of the 3rd finger
................... HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger
........expandBullet-shaped phalanges of the 2nd finger (HP:0009548) help
................... HP:0009559 Bullet-shaped distal phalanx of the 2nd finger
................... HP:0009570 Bullet-shaped middle phalanx of the 2nd finger
................... HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger
........expandBullet-shaped thumb phalanx (HP:0009652) help
................... HP:0009631 Bullet-shaped proximal phalanx of the thumb
................... HP:0009643 Bullet-shaped distal phalanx of the thumb
........expandBullet-shaped distal phalanges of the hand (HP:0009837) help
................... HP:0009241 Bullet-shaped distal phalanx of the 5th finger
................... HP:0009302 Bullet-shaped distal phalanx of the 4th finger
................... HP:0009423 Bullet-shaped distal phalanx of the 3rd finger
................... HP:0009559 Bullet-shaped distal phalanx of the 2nd finger
................... HP:0009643 Bullet-shaped distal phalanx of the thumb
........expandBullet-shaped middle phalanges of the hand (HP:0009845) help
................... HP:0009168 Bullet-shaped middle phalanx of the 5th finger
................... HP:0009296 Bullet-shaped middle phalanx of the 4th finger
................... HP:0009431 Bullet-shaped middle phalanx of the 3rd finger
................... HP:0009570 Bullet-shaped middle phalanx of the 2nd finger
................... HP:0009631 Bullet-shaped proximal phalanx of the thumb
........expandBullet-shaped proximal phalanges of the hand (HP:0009853) help
................... HP:0009228 Bullet-shaped proximal phalanx of the 5th finger
................... HP:0009311 Bullet-shaped proximal phalanx of the 4th finger
................... HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger
................... HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger

 Sister Nodes: 
..expandAbnormal 3rd finger phalanx morphology (HP:0009316) help
..expandAbnormal 4th finger phalanx morphology (HP:0009172) help
..expandAbnormal 5th finger phalanx morphology (HP:0004213) help
..expandAbnormal distal phalanx morphology of finger (HP:0009832) help
..expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920) help
..expandAbnormal middle phalanx morphology of the hand (HP:0009833) help
..expandAbnormal phalangeal joint morphology of the hand (HP:0006261) help
..expandAbnormal proximal phalanx morphology of the hand (HP:0009834) help
..expandAplasia/Hypoplasia of the phalanges of the hand (HP:0009767) help
..expandBroad phalanges of the hand (HP:0009768) help
..expandCurved phalanges of the hand (HP:0009770) help
..expandDuplication of phalanx of hand (HP:0009997) help
..expandFinger hyperphalangy (HP:0030367) help
..expandIrregular phalanges (HP:0006205) help
..expandLong phalanx of finger (HP:0006155) help
..expandOsteolytic defects of the phalanges of the hand (HP:0009771) help
..expandPartial absence of finger (HP:0011299) help
..expandPhalangeal dislocation (HP:0006243) help
..expandSclerosis of finger phalanx (HP:0100899) help
..expandSymphalangism affecting the phalanges of the hand (HP:0009773) help
..expandTapered phalanx of finger (HP:0006192) help
..expandTriangular shaped phalanges of the hand (HP:0009774) 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:0009769HP:0009769Bullet-shaped phalanges of the hand0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0009769HP:0009769Bullet-shaped phalanges of the hand0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0009769HP:0009441Bullet-shaped phalanges of the 3rd finger1 CL E G H
HP:0009769HP:0009853Bullet-shaped proximal phalanges of the hand1 CL E G H
HP:0009769HP:0009405Bullet-shaped phalanges of the 4th finger1 CL E G H
HP:0009769HP:0009837Bullet-shaped distal phalanges of the hand1 CL E G H
HP:0009769HP:0009375Bullet-shaped phalanges of the 5th finger1 CL E G H
HP:0009769HP:0009548Bullet-shaped phalanges of the 2nd finger1 CL E G H
HP:0009769HP:0009652Bullet-shaped thumb phalanx1 CL E G H
HP:0009769HP:0009845Bullet-shaped middle phalanges of the hand1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0009769HP:0009631Bullet-shaped proximal phalanx of the thumb2 CL E G H
HP:0009769HP:0009296Bullet-shaped middle phalanx of the 4th finger2 CL E G H
HP:0009769HP:0009431Bullet-shaped middle phalanx of the 3rd finger2 CL E G H
HP:0009769HP:0009582Bullet-shaped proximal phalanx of the 2nd finger2 CL E G H
HP:0009769HP:0009241Bullet-shaped distal phalanx of the 5th finger2 CL E G H
HP:0009769HP:0009423Bullet-shaped distal phalanx of the 3rd finger2 CL E G H
HP:0009769HP:0009570Bullet-shaped middle phalanx of the 2nd finger2 CL E G H
HP:0009769HP:0009228Bullet-shaped proximal phalanx of the 5th finger2 CL E G H
HP:0009769HP:0009559Bullet-shaped distal phalanx of the 2nd finger2 CL E G H
HP:0009769HP:0009168Bullet-shaped middle phalanx of the 5th finger2 CL E G H
HP:0009769HP:0009311Bullet-shaped proximal phalanx of the 4th finger2 CL E G H
HP:0009769HP:0009451Bullet-shaped proximal phalanx of the 3rd finger2 CL E G H
HP:0009769HP:0009643Bullet-shaped distal phalanx of the thumb2 CL E G H
HP:0009769HP:0009302Bullet-shaped distal phalanx of the 4th finger2 CL E G H


Genes (2) :GNPTAB NFIX

Diseases (2) :OMIM:252500 OMIM:602535
 

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