Human Phenotype Ontology 
Grandparent Node:
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Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
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Cone-shaped epiphysis (HP:0010579)help
Parent Node:
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Abnormality of the epiphyses of the 5th finger (HP:0009152)help
Parent Node:
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Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)help
..Starting node
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Cone-shaped epiphyses of the 5th finger (HP:0009384)help
Term ID: 9384
Name: Cone-shaped epiphyses of the 5th finger
Synonym: Cone-shaped end part of the little finger bones; Cone-shaped end part of the pinkie finger bones; Cone-shaped end part of the pinky finger bones
Definition: A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Comments:
Reference: HP:0009384
Genes and Diseases:
 
       Child Nodes:
........expandCone-shaped epiphysis of the distal phalanx of the 5th finger (HP:0004222) help
........expandCone-shaped epiphysis of the proximal phalanx of the 5th finger (HP:0009155) help
........expandCone-shaped epiphysis of the middle phalanx of the 5th finger (HP:0009205) help

 Sister Nodes: 
..expandCone-shaped epiphyses of phalanges 2 to 5 (HP:0006035) help
..expandCone-shaped epiphyses of the 2nd finger (HP:0009490) help
..expandCone-shaped epiphyses of the 3rd finger (HP:0009412) help
..expandCone-shaped epiphyses of the 4th finger (HP:0009395) help
..expandCone-shaped epiphyses of the distal phalanges of the hand (HP:0010248) help
..expandCone-shaped epiphyses of the middle phalanges of the hand (HP:0010259) help
..expandCone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270) help
..expandCone-shaped epiphysis of the thumb (HP:0009688) 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:0009384HP:0009384Cone-shaped epiphyses of the 5th finger0 CL E G H
HP:0009384HP:0009155Cone-shaped epiphysis of the proximal phalanx of the 5th finger1 CL E G H
HP:0009384HP:0004222Cone-shaped epiphysis of the distal phalanx of the 5th finger1 CL E G H
HP:0009384HP:0009205Cone-shaped epiphysis of the middle phalanx of the 5th finger1 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.