Human Phenotype Ontology 
Grandparent Node:
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Supranuclear gaze palsy (HP:0000605)help
Parent Node:
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Vertical supranuclear gaze palsy (HP:0000511)help
..Starting node
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Upgaze palsy (HP:0025331)help
Term ID: 25331
Name: Upgaze palsy
Synonym: Supranuclear upgaze palsy; Upgaze paresis
Definition: A limitation of the ability to direct one's gaze above the horizontal meridian.
Comments:
Reference: HP:0025331
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDowngaze palsy (HP:0025330) 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:0025331HP:0025331Upgaze palsy0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0025331HP:0025331Upgaze palsy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0025331HP:0025331Upgaze palsy0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0025331HP:0025331Upgaze palsy0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0025331HP:0025331Upgaze palsy0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0025331HP:0025331Upgaze palsy0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0025331HP:0025331Upgaze palsy0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040284 - Very rare17
HP:0025331HP:0025331Upgaze palsy0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0025331HP:0025331Upgaze palsy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040284 - Very rare133
HP:0025331HP:0025331Upgaze palsy0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0025331HP:0025331Upgaze palsy0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0025331HP:0025331Upgaze palsy0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (12) :AASS AGTPBP1 ATP13A2 ATXN1 DLAT FTL KCNC3 NEK9 PLA2G6 POLG TWNK VPS13A

Diseases (11) :ORPHA:2203 OMIM:618276 ORPHA:314632 ORPHA:98755 ORPHA:79244 ORPHA:157846 ORPHA:98768 OMIM:614262 ORPHA:35069 ORPHA:70595 ORPHA:2388
 

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