Human Phenotype Ontology 
Grandparent Node:
expandOphthalmoplegia (HP:0000602)help
Parent Node:
expandExternal ophthalmoplegia (HP:0000544)help
..Starting node
..expandRestrictive external ophthalmoplegia (HP:0007936)help
Term ID: 7936
Name: Restrictive external ophthalmoplegia
Synonym: Restrictive external ophthalmoplegia, bilateral; Restrictive ophthalmoplegia
Definition: Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.
Comments:
Reference: HP:0007936
Genes and Diseases:
 
       Child Nodes:
........expandRestrictive partial external ophthalmoplegia (HP:0007867) help

 Sister Nodes: 
..expandNonprogressive restrictive external ophthalmoplegia (HP:0007831) help
..expandProgressive external ophthalmoplegia (HP:0000590) help
..expandRecurrent external ophthalmoplegia (HP:0007250) 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:0007936HP:0007936Restrictive external ophthalmoplegia0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0007936HP:0007936Restrictive external ophthalmoplegia0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0007936HP:0007867Restrictive partial external ophthalmoplegia1 CL E G H


Genes (2) :KIF21A PHOX2A

Diseases (2) :OMIM:135700 OMIM:602078
 

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