Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Reduced consciousness/confusion (HP:0004372)help
..Starting node
..expand
Drowsiness (HP:0002329)help
Term ID: 2329
Name: Drowsiness
Synonym: Drowsiness; Sleepy
Definition: Excessive daytime sleepiness.
Comments:
Reference: HP:0002329
Genes and Diseases:
 
       Child Nodes:
........expandParoxysmal drowsiness (HP:0002330) help

 Sister Nodes: 
..expandComa (HP:0001259) help
..expandConfusion (HP:0001289) help
..expandEpisodic hypersomnia (HP:0007200) help
..expandExcessive daytime somnolence (HP:0001262) help
..expandFluctuations in consciousness (HP:0007159) help
..expandLethargy (HP:0001254) help
..expandLoss of consciousness (HP:0007185) help
..expandobsolete Excessive daytime sleepiness (HP:0002189) help
..expandVegetative state (HP:0031358) 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:0002329HP:0002329Drowsiness0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0002329HP:0002329Drowsiness0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0002329HP:0002329Drowsiness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0002329HP:0002329Drowsiness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0002329HP:0002329Drowsiness0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0002329HP:0002329Drowsiness0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0002329HP:0002329Drowsiness0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0002329HP:0002329Drowsiness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0002329HP:0002329Drowsiness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0002329HP:0002329Drowsiness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0002329HP:0002329Drowsiness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0002329HP:0002329Drowsiness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0002329HP:0002329Drowsiness0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0002329HP:0002329Drowsiness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0002329HP:0002329Drowsiness0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0002329HP:0002329Drowsiness0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0002329HP:0002329Drowsiness0HCRT CL E G H30604847OMIM:161400Narcolepsy 11
HP:0002329HP:0002329Drowsiness0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0002329HP:0002329Drowsiness0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0002329HP:0002329Drowsiness0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040282 - Frequent127
HP:0002329HP:0002329Drowsiness0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0002329HP:0002329Drowsiness0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0002329HP:0002329Drowsiness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0002329HP:0002329Drowsiness0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0002329HP:0002329Drowsiness0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0002329HP:0002329Drowsiness0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0002329HP:0002329Drowsiness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0002329HP:0002329Drowsiness0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0002329HP:0002329Drowsiness0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002329HP:0002329Drowsiness0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0002329HP:0002329Drowsiness0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0002329HP:0002329Drowsiness0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002329HP:0002329Drowsiness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0002329HP:0002329Drowsiness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0002329HP:0002329Drowsiness0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.2
HP:0002329HP:0002329Drowsiness0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040282 - Frequent110
HP:0002329HP:0002329Drowsiness0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0002329HP:0002329Drowsiness0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0002329HP:0002329Drowsiness0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0002329HP:0002329Drowsiness0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040282 - Frequent15
HP:0002329HP:0002329Drowsiness0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0002329HP:0002330Paroxysmal drowsiness1HCRT CL E G H30604847OMIM:161400Narcolepsy 1.1


Genes (38) :ABCC8 AGRN AK9 ATP1A2 CACNA1A CHRNA1 CHRNB1 CHRND CHRNE COL13A1 CYTB DOK7 FBP1 GFAP HCRT HNF1A HNF4A KCNJ11 KIF1A LONP1 LRP4 MAN2B1 MTRR MUSK NAGS NDUFS8 PDHA1 PIGG PTS RAPSN SCN4A SLC13A3 SLC19A3 SLC25A13 SPR THRA UCP2 ZNHIT3

Diseases (28) :ORPHA:276575 OMIM:240800 ORPHA:98913 OMIM:602481 ORPHA:71518 OMIM:141500 ORPHA:137675 ORPHA:348 OMIM:203450 OMIM:161400 ORPHA:324575 ORPHA:263455 ORPHA:276580 ORPHA:2836 ORPHA:79243 ORPHA:309288 ORPHA:309282 ORPHA:2169 ORPHA:927 OMIM:618222 ORPHA:488635 ORPHA:13 OMIM:618384 ORPHA:263410 ORPHA:247585 ORPHA:70594 OMIM:614450 ORPHA:276556
 

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