Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thumb epiphysis (HP:0009599)help
Grandparent Node:
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Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)help
Parent Node:
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Abnormality of the epiphysis of the distal phalanx of the thumb (HP:0009662)help
Parent Node:
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Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248)help
Parent Node:
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Cone-shaped epiphysis of the thumb (HP:0009688)help
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Cone-shaped epiphysis of the distal phalanx of the thumb (HP:0009677)help
Term ID: 9677
Name: Cone-shaped epiphysis of the distal phalanx of the thumb
Synonym: Cone-shaped end part of thumb outermost long bone; Cone-shaped terminal thumb phalanx epiphysis
Definition: A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Comments:
Reference: HP:0009677
Genes and Diseases:
 
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 Sister Nodes: 
..expandCone-shaped epiphysis of the proximal phalanx of the thumb (HP:0009666) 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:0009677HP:0009677Cone-shaped epiphysis of the distal phalanx of the thumb0 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.