Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Sleep disturbance (HP:0002360)help
..Starting node
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Hypersomnia (HP:0100786)help
Term ID: 100786
Name: Hypersomnia
Synonym: Excessive sleepiness
Definition:
Comments:
Reference: HP:0100786
Genes and Diseases:
 
       Child Nodes:
........expandEpisodic hypersomnia (HP:0007200) help

 Sister Nodes: 
..expandAbnormal rapid eye movement sleep (HP:0002494) help
..expandBruxism (HP:0003763) help
..expandExcessive daytime somnolence (HP:0001262) help
..expandInsomnia (HP:0100785) help
..expandNarcolepsy (HP:0030050) 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:0100786HP:0100786Hypersomnia0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0100786HP:0100786Hypersomnia0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040283 - Occasional121
HP:0100786HP:0100786Hypersomnia0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0100786HP:0100786Hypersomnia0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040283 - Occasional5
HP:0100786HP:0100786Hypersomnia0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0100786HP:0100786Hypersomnia0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0100786HP:0100786Hypersomnia0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0100786HP:0100786Hypersomnia0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0100786HP:0100786Hypersomnia0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0100786HP:0100786Hypersomnia0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0100786HP:0100786Hypersomnia0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0100786HP:0100786Hypersomnia0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0100786HP:0100786Hypersomnia0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0100786HP:0100786Hypersomnia0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 23.3
HP:0100786HP:0100786Hypersomnia0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0100786HP:0007200Episodic hypersomnia1 CL E G H


Genes (13) :AIP DUOX2 FOXE1 GPR101 HEXB NKX2-1 NKX2-5 PAX8 PRNP PRR12 SLC26A4 TDP2 TSHR

Diseases (8) :ORPHA:963 ORPHA:226316 ORPHA:95713 ORPHA:309162 ORPHA:95712 ORPHA:282166 OMIM:619539 OMIM:616949
 

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