Human Phenotype Ontology 
Grandparent Node:
expandOphthalmoplegia (HP:0000602)help
Parent Node:
expandExternal ophthalmoplegia (HP:0000544)help
..Starting node
..expandNonprogressive restrictive external ophthalmoplegia (HP:0007831)help
Term ID: 7831
Name: Nonprogressive restrictive external ophthalmoplegia
Synonym:
Definition: Nonprogressive restriction of movement 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:0007831
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandProgressive external ophthalmoplegia (HP:0000590) help
..expandRecurrent external ophthalmoplegia (HP:0007250) help
..expandRestrictive external ophthalmoplegia (HP:0007936) 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:0007831HP:0007831Nonprogressive restrictive external ophthalmoplegia0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64


Genes (1) :TUBB3

Diseases (1) :OMIM:600638
 

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