Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Sound sensitivity (HP:0025112)help
..Starting node
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Hyperacusis (HP:0010780)help
Term ID: 10780
Name: Hyperacusis
Synonym: Loudness intolerance; Sensitivity to noise
Definition: Over-sensitivity to certain frequency ranges of sound.
Comments:
Reference: HP:0010780
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMisophonia (HP:0025113) help
..expandPhonophobia (HP:0002183) 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:0010780HP:0010780Hyperacusis0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0010780HP:0010780Hyperacusis0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0010780HP:0010780Hyperacusis0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0010780HP:0010780Hyperacusis0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0010780HP:0010780Hyperacusis0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0010780HP:0010780Hyperacusis0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0010780HP:0010780Hyperacusis0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0010780HP:0010780Hyperacusis0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0010780HP:0010780Hyperacusis0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0010780HP:0010780Hyperacusis0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0010780HP:0010780Hyperacusis0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0010780HP:0010780Hyperacusis0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0010780HP:0010780Hyperacusis0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0010780HP:0010780Hyperacusis0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0010780HP:0010780Hyperacusis0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0010780HP:0010780Hyperacusis0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0010780HP:0010780Hyperacusis0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0010780HP:0010780Hyperacusis0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0010780HP:0010780Hyperacusis0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0010780HP:0010780Hyperacusis0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0010780HP:0010780Hyperacusis0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent


Genes (28) :BAZ1B BCL7B BUD23 CLIP2 DEAF1 DNAJC30 EIF4H ELN FKBP6 FLII GM2A GTF2I GTF2IRD1 GTF2IRD2 HEXB IQSEC2 LIMK1 METTL27 MLXIPL NCF1 PPM1D RAI1 RFC2 STX1A TBL2 TMEM270 TRIO VPS37D

Diseases (9) :ORPHA:904 ORPHA:819 OMIM:194050 ORPHA:309246 OMIM:272750 ORPHA:309155 OMIM:617450 OMIM:182290 OMIM:617061
 

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