Human Phenotype Ontology 
Grandparent Node:
expandBehavioral abnormality (HP:0000708)help
Parent Node:
expandSleep disturbance (HP:0002360)help
..Starting node
..expandNarcolepsy (HP:0030050)help
Term ID: 30050
Name: Narcolepsy
Synonym:
Definition: An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.
Comments:
Reference: HP:0030050
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal rapid eye movement sleep (HP:0002494) help
..expandBruxism (HP:0003763) help
..expandExcessive daytime somnolence (HP:0001262) help
..expandHypersomnia (HP:0100786) help
..expandInsomnia (HP:0100785) help
..expandobsolete Excessive daytime sleepiness (HP:0002189) help
..expandParasomnia (HP:0025234) help
..expandRestless legs (HP:0012452) help
..expandSleep apnea (HP:0010535) help
..expandSleep paralysis (HP:0025233) help
..expandSleep-wake cycle disturbance (HP:0006979) help
..expandSnoring (HP:0025267) 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:0030050HP:0030050Narcolepsy0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040281 - Very frequent145
HP:0030050HP:0030050Narcolepsy0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0030050HP:0030050Narcolepsy0HCRT CL E G H30604847OMIM:161400Narcolepsy 1.1
HP:0030050HP:0030050Narcolepsy0MOG CL E G H43407197OMIM:614250Narcolepsy 7.1


Genes (3) :DNMT1 HCRT MOG

Diseases (4) :ORPHA:314404 OMIM:604121 OMIM:161400 OMIM:614250
 

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