Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormal cranial nerve morphology (HP:0001291)help
Parent Node:
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Ophthalmoparesis (HP:0000597)help
..Starting node
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Oculomotor nerve palsy (HP:0012246)help
Term ID: 12246
Name: Oculomotor nerve palsy
Synonym: Oculomotor neuropathy
Definition: Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
Comments:
Reference: HP:0012246
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOphthalmoplegia (HP:0000602) help
..expandSetting-sun eye phenomenon (HP:0012470) help
..expandStatic ophthalmoparesis (HP:0008507) help
..expandWeak extraocular muscles (HP:0007715) 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:0012246HP:0012246Oculomotor nerve palsy0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0012246HP:0012246Oculomotor nerve palsy0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0012246HP:0012246Oculomotor nerve palsy0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0012246HP:0012246Oculomotor nerve palsy0ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysmHP:0040283 - Occasional
HP:0012246HP:0012246Oculomotor nerve palsy0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0012246HP:0012246Oculomotor nerve palsy0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0012246HP:0012246Oculomotor nerve palsy0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0012246HP:0012246Oculomotor nerve palsy0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent35
HP:0012246HP:0012246Oculomotor nerve palsy0COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysmHP:0040283 - Occasional749
HP:0012246HP:0012246Oculomotor nerve palsy0ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysmHP:0040283 - Occasional186
HP:0012246HP:0012246Oculomotor nerve palsy0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent63
HP:0012246HP:0012246Oculomotor nerve palsy0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0012246HP:0012246Oculomotor nerve palsy0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0012246HP:0012246Oculomotor nerve palsy0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0012246HP:0012246Oculomotor nerve palsy0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0012246HP:0012246Oculomotor nerve palsy0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0012246HP:0012246Oculomotor nerve palsy0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0012246HP:0012246Oculomotor nerve palsy0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0012246HP:0012246Oculomotor nerve palsy0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0012246HP:0012246Oculomotor nerve palsy0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent86
HP:0012246HP:0012246Oculomotor nerve palsy0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0012246HP:0012246Oculomotor nerve palsy0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0012246HP:0012246Oculomotor nerve palsy0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0012246HP:0012246Oculomotor nerve palsy0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0012246HP:0012246Oculomotor nerve palsy0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0012246HP:0012246Oculomotor nerve palsy0TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysmHP:0040283 - Occasional1
HP:0012246HP:0012246Oculomotor nerve palsy0THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysmHP:0040283 - Occasional2
HP:0012246HP:0012246Oculomotor nerve palsy0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0012246HP:0012246Oculomotor nerve palsy0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0012246HP:0012246Oculomotor nerve palsy0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040283 - Occasional73


Genes (28) :AIP AKT1 AKT3 ANGPTL6 BAP1 CDH23 CHN1 COL3A1 ENG MAFB MEN1 MTOR MYMK NF2 PDGFB PIK3CA PLEC SALL4 SMARCB1 SMARCE1 SMO SUFU TERT TGFBR3 THSD1 TRAF7 TRPV4 UGT1A1

Diseases (10) :ORPHA:2965 ORPHA:2495 ORPHA:99802 ORPHA:231160 ORPHA:91347 ORPHA:233 OMIM:254940 ORPHA:257 OMIM:606071 ORPHA:79234
 

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