Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Cataplexy (HP:0002524)help
Term ID: 2524
Name: Cataplexy
Synonym:
Definition: A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
Comments:
Reference: HP:0002524
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002524HP:0002524Cataplexy0CTSH CL E G H15122073ORPHA1272535116820
HP:0002524HP:0002524Cataplexy0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM17492976126375
HP:0002524HP:0002524Cataplexy0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM18322976126375
HP:0002524HP:0002524Cataplexy0HCRT CL E G H30602073ORPHA1104847602358
HP:0002524HP:0002524Cataplexy0HCRT CL E G H30602073ORPHA194847602358
HP:0002524HP:0002524Cataplexy0HCRT CL E G H3060161400Narcolepsy 1161400C1834372OMIM194847602358
HP:0002524HP:0002524Cataplexy0HCRT CL E G H3060161400Narcolepsy 1161400C1834372OMIM1104847602358
HP:0002524HP:0002524Cataplexy0HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0002524HP:0002524Cataplexy0HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0002524HP:0002524Cataplexy0MOG CL E G H43402073ORPHA1167197159465
HP:0002524HP:0002524Cataplexy0MOG CL E G H4340614250Narcolepsy 7614250C3280266OMIM1167197159465
HP:0002524HP:0002524Cataplexy0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0002524HP:0002524Cataplexy0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0002524HP:0002524Cataplexy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0002524HP:0002524Cataplexy0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0002524HP:0002524Cataplexy0P2RY11 CL E G H50322073ORPHA1328540602697
HP:0002524HP:0002524Cataplexy0P2RY11 CL E G H50322073ORPHA1318540602697
HP:0002524HP:0002524Cataplexy0TNFSF4 CL E G H72922073ORPHA13711934603594
HP:0002524HP:0002524Cataplexy0TNFSF4 CL E G H72922073ORPHA13511934603594
HP:0002524HP:0002524Cataplexy0ZNF365 CL E G H228912073ORPHA14518194607818
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (11) :CTSH DNMT1 HCRT HLA-DQB1 HLA-DRB1 MOG NPC1 NPC2 P2RY11 TNFSF4 ZNF365

Diseases (6) :2073 604121 161400 614250 257220 607625
 

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