Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormal middle phalanx morphology of the hand (HP:0009833)help
Parent Node:
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Bullet-shaped phalanges of the hand (HP:0009769)help
..Starting node
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Bullet-shaped middle phalanges of the hand (HP:0009845)help
Term ID: 9845
Name: Bullet-shaped middle phalanges of the hand
Synonym:
Definition: Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Comments:
Reference: HP:0009845
Genes and Diseases:
 
       Child Nodes:
........expandBullet-shaped middle phalanx of the 5th finger (HP:0009168) help
........expandBullet-shaped middle phalanx of the 4th finger (HP:0009296) help
........expandBullet-shaped middle phalanx of the 3rd finger (HP:0009431) help
........expandBullet-shaped middle phalanx of the 2nd finger (HP:0009570) help
........expandBullet-shaped proximal phalanx of the thumb (HP:0009631) help

 Sister Nodes: 
..expandBullet-shaped distal phalanges of the hand (HP:0009837) 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
..expandBullet-shaped thumb phalanx (HP:0009652) 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:0009845HP:0009845Bullet-shaped middle phalanges of the hand0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0009845HP:0009570Bullet-shaped middle phalanx of the 2nd finger1 CL E G H
HP:0009845HP:0009431Bullet-shaped middle phalanx of the 3rd finger1 CL E G H
HP:0009845HP:0009296Bullet-shaped middle phalanx of the 4th finger1 CL E G H
HP:0009845HP:0009168Bullet-shaped middle phalanx of the 5th finger1 CL E G H
HP:0009845HP:0009631Bullet-shaped proximal phalanx of the thumb1 CL E G H


Genes (1) :NFIX

Diseases (1) :OMIM:602535
 

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