Human Phenotype Ontology 
Grandparent Node:
expandAbnormal eye physiology (HP:0012373)help
Parent Node:
expandAbnormality of eye movement (HP:0000496)help
..Starting node
..expandAbnormality of ocular abduction (HP:0011347)help
Term ID: 11347
Name: Abnormality of ocular abduction
Synonym:
Definition: An abnormality involving the movement of the eye outwards.
Comments:
Reference: HP:0011347
Genes and Diseases:
 
       Child Nodes:
........expandGlobe retraction and deviation on abduction (HP:0000497) help
........expandImpaired ocular abduction (HP:0000634) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal saccadic eye movements (HP:0000570) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular smooth pursuit (HP:0000617) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandOphthalmoparesis (HP:0000597) help
..expandVisual gaze preference (HP:0025518) 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:0011347HP:0011347Abnormality of ocular abduction0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040282 - Frequent8
HP:0011347HP:0011347Abnormality of ocular abduction0MAFB CL E G H99356408OMIM:617041Duane retraction syndrome 3 with or without deafness63
HP:0011347HP:0011347Abnormality of ocular abduction0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndrome5
HP:0011347HP:0011347Abnormality of ocular abduction0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndrome
HP:0011347HP:0011347Abnormality of ocular abduction0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0011347HP:0011347Abnormality of ocular abduction0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0011347HP:0000497Globe retraction and deviation on abduction1 CL E G H
HP:0011347HP:0000634Impaired ocular abduction1MAFB CL E G H99356408OMIM:617041Duane retraction syndrome 3 with or without deafness.63
HP:0011347HP:0000634Impaired ocular abduction1MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0011347HP:0000634Impaired ocular abduction1MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0011347HP:0000634Impaired ocular abduction1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0011347HP:0000634Impaired ocular abduction1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86


Genes (6) :GRM1 MAFB MYMK MYMX ROBO3 SALL4

Diseases (5) :ORPHA:324262 OMIM:617041 ORPHA:1358 OMIM:607313 OMIM:607323
 

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