Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of thumb epiphysis (HP:0009599)help
Grandparent Node:
expandCone-shaped epiphyses of the phalanges of the hand (HP:0010230)help
Parent Node:
expandAbnormality of the epiphysis of the proximal phalanx of the thumb (HP:0009663)help
Parent Node:
expandCone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)help
Parent Node:
expandCone-shaped epiphysis of the thumb (HP:0009688)help
..Starting node
..expandCone-shaped epiphysis of the proximal phalanx of the thumb (HP:0009666)help
Term ID: 9666
Name: Cone-shaped epiphysis of the proximal phalanx of the thumb
Synonym: Cone-shaped end part of thumb innermost long bone
Definition: A cone-shaped appearance of the epiphysis of the proximal 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. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Comments:
Reference: HP:0009666
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCone-shaped epiphysis of the distal phalanx of the thumb (HP:0009677) 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:0009666HP:0009666Cone-shaped epiphysis of the proximal 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.