Human Phenotype Ontology 
Grandparent Node:
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Ophthalmoplegia (HP:0000602)help
Parent Node:
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External ophthalmoplegia (HP:0000544)help
..Starting node
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Restrictive 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007936HP:0007936Restrictive external ophthalmoplegia0KIF21A CL E G H55605135700Fibrosis of extraocular muscles, congenital, 1135700C1851102OMIM123619349608283
HP:0007936HP:0007936Restrictive external ophthalmoplegia0PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM134691602753
HP:0007936HP:0007867Restrictive partial external ophthalmoplegia1KIF21A CL E G H55605135700Fibrosis of extraocular muscles, congenital, 1135700C1851102OMIM123619349608283
HP:0007936HP:0007867Restrictive partial external ophthalmoplegia1PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM134691602753
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :KIF21A PHOX2A

Diseases (2) :135700 602078
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.