Human Phenotype Ontology 
Grandparent Node:
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Abnormality of thumb epiphysis (HP:0009599)help
Grandparent Node:
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Irregular epiphyses of the phalanges of the hand (HP:0010233)help
Parent Node:
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Abnormality of the epiphysis of the proximal phalanx of the thumb (HP:0009663)help
Parent Node:
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Irregular epiphyses of the middle phalanges of the hand (HP:0010262)help
Parent Node:
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Irregular thumb epiphysis (HP:0009691)help
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Irregular epiphysis of the proximal phalanx of the thumb (HP:0009669)help
Term ID: 9669
Name: Irregular epiphysis of the proximal phalanx of the thumb
Synonym: Irregular end part of thumb innermost long bone
Definition: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. 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:0009669
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIrregular epiphysis of the distal phalanx of the thumb (HP:0009680) 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:0009669HP:0009669Irregular 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.