Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal central motor function (HP:0011442)help
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Abnormal eyelid morphology (HP:0000492)help
Parent Node:
expand
Apraxia (HP:0002186)help
..Starting node
..expand
Eyelid apraxia (HP:0000658)help
Term ID: 658
Name: Eyelid apraxia
Synonym: Difficulty opening the eyelids
Definition:
Comments:
Reference: HP:0000658
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGait apraxia (HP:0010521) help
..expandLimb apraxia (HP:0030217) help
..expandOculomotor apraxia (HP:0000657) help
..expandOromotor apraxia (HP:0007301) help
..expandSpeech apraxia (HP:0011098) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000658HP:0000658Eyelid apraxia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14886893157140
HP:0000658HP:0000658Eyelid apraxia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14656893157140
HP:0000658HP:0000658Eyelid apraxia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0000658HP:0000658Eyelid apraxia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0000658HP:0000658Eyelid apraxia0PLA2G6 CL E G H8398199351ORPHA15139039603604
HP:0000658HP:0000658Eyelid apraxia0PLA2G6 CL E G H8398199351ORPHA14319039603604
HP:0000658HP:0000658Eyelid apraxia0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM173011503604297
HP:0000658HP:0000658Eyelid apraxia0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM190911503604297
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000658HP:0000658Eyelid apraxia0ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0000658HP:0000658Eyelid apraxia0ATP13A2 CL E G H23400306674ORPHA060930213610513


Genes (5) :ATP13A2 MAPT PANK2 PLA2G6 SYNJ1

Diseases (5) :306674 601104 234200 199351 615530
 

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