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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Phonophobia (HP:0002183)help
Term ID: 2183
Name: Phonophobia
Synonym: Fear of loud sounds
Definition: An abnormally heightened sensitivity to loud sounds.
Comments:
Reference: HP:0002183
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperacusis (HP:0010780) help
..expandMisophonia (HP:0025113) 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:0002183HP:0002183Phonophobia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002183HP:0002183Phonophobia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0EDNRA CL E G H19093179OMIM:157300Migraine with or without aura, susceptibility to, 1.3
HP:0002183HP:0002183Phonophobia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0002183HP:0002183Phonophobia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0002183HP:0002183Phonophobia0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002183HP:0002183Phonophobia0ESR1 CL E G H20993467OMIM:157300Migraine with or without aura, susceptibility to, 1.13
HP:0002183HP:0002183Phonophobia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002183HP:0002183Phonophobia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002183HP:0002183Phonophobia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002183HP:0002183Phonophobia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002183HP:0002183Phonophobia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002183HP:0002183Phonophobia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0002183HP:0002183Phonophobia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0002183HP:0002183Phonophobia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 31053
HP:0002183HP:0002183Phonophobia0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040282 - Frequent63
HP:0002183HP:0002183Phonophobia0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0002183HP:0002183Phonophobia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002183HP:0002183Phonophobia0TNF CL E G H712411892OMIM:157300Migraine with or without aura, susceptibility to, 1.7
HP:0002183HP:0002183Phonophobia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent


Genes (27) :BAZ1B BCL7B BUD23 CLIP2 CREBBP DNAJC30 EDNRA EIF4H ELN EP300 ESR1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 RFC2 SCN1A SLC1A3 STX1A TBL2 TMEM270 TNF VPS37D

Diseases (7) :ORPHA:904 OMIM:180849 OMIM:157300 OMIM:194050 OMIM:609634 ORPHA:209967 OMIM:612656
 

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