Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the voice (HP:0001608)help
..Starting node
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Hoarse voice (HP:0001609)help
Term ID: 1609
Name: Hoarse voice
Synonym: Hoarse voice; Hoarseness; Husky voice
Definition: Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Comments:
Reference: HP:0001609
Genes and Diseases:
 
       Child Nodes:
........expandHoarse cry (HP:0001615) help

 Sister Nodes: 
..expandAbnormal cry (HP:0025429) help
..expandAbnormal speech prosody (HP:0031434) help
..expandAbnormally low-pitched voice (HP:0010300) help
..expandDysphonia (HP:0001618) help
..expandHigh pitched voice (HP:0001620) help
..expandHyponasal speech (HP:0100271) help
..expandLoss of voice (HP:0001686) help
..expandNasal speech (HP:0001611) help
..expandSpeech articulation difficulties (HP:0009088) help
..expandVocal cord dysfunction (HP:0031801) help
..expandWeak voice (HP:0001621) 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:0001609HP:0001609Hoarse voice0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0001609HP:0001609Hoarse voice0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040282 - Frequent34
HP:0001609HP:0001609Hoarse voice0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0001609HP:0001609Hoarse voice0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001609HP:0001609Hoarse voice0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0001609HP:0001609Hoarse voice0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0001609HP:0001609Hoarse voice0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001609HP:0001609Hoarse voice0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0001609HP:0001609Hoarse voice0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001609HP:0001609Hoarse voice0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040281 - Very frequent78
HP:0001609HP:0001609Hoarse voice0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0001609HP:0001609Hoarse voice0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0001609HP:0001609Hoarse voice0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0001609HP:0001609Hoarse voice0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040284 - Very rare
HP:0001609HP:0001609Hoarse voice0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0001609HP:0001609Hoarse voice0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001609HP:0001609Hoarse voice0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001609HP:0001609Hoarse voice0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0001609HP:0001609Hoarse voice0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0001609HP:0001609Hoarse voice0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0001609HP:0001609Hoarse voice0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0001609HP:0001609Hoarse voice0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001609HP:0001609Hoarse voice0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001609HP:0001609Hoarse voice0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001609HP:0001609Hoarse voice0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001609HP:0001609Hoarse voice0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001609HP:0001609Hoarse voice0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0001609HP:0001609Hoarse voice0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional1361
HP:0001609HP:0001609Hoarse voice0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001609HP:0001609Hoarse voice0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001609HP:0001609Hoarse voice0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001609HP:0001609Hoarse voice0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0001609HP:0001609Hoarse voice0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0001609HP:0001609Hoarse voice0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001609HP:0001609Hoarse voice0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0001609HP:0001609Hoarse voice0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001609HP:0001609Hoarse voice0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0001609HP:0001609Hoarse voice0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001609HP:0001609Hoarse voice0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0001609HP:0001609Hoarse voice0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001609HP:0001609Hoarse voice0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001609HP:0001609Hoarse voice0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0001609HP:0001609Hoarse voice0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0001609HP:0001609Hoarse voice0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0001609HP:0001609Hoarse voice0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001609HP:0001609Hoarse voice0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndromeHP:0040282 - Frequent119
HP:0001609HP:0001609Hoarse voice0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0001609HP:0001609Hoarse voice0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0001609HP:0001609Hoarse voice0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001609HP:0001609Hoarse voice0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0001609HP:0001609Hoarse voice0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare27
HP:0001609HP:0001609Hoarse voice0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare23
HP:0001609HP:0001609Hoarse voice0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0001609HP:0001609Hoarse voice0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001609HP:0001609Hoarse voice0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0001609HP:0001609Hoarse voice0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare41
HP:0001609HP:0001609Hoarse voice0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040284 - Very rare4
HP:0001609HP:0001609Hoarse voice0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0001609HP:0001609Hoarse voice0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent116
HP:0001609HP:0001609Hoarse voice0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent167
HP:0001609HP:0001609Hoarse voice0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent135
HP:0001609HP:0001609Hoarse voice0LEMD3 CL E G H2359228887OMIM:166700Buschke-Ollendorff syndrome.68
HP:0001609HP:0001609Hoarse voice0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0001609HP:0001609Hoarse voice0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0001609HP:0001609Hoarse voice0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001609HP:0001609Hoarse voice0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional12
HP:0001609HP:0001609Hoarse voice0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0001609HP:0001609Hoarse voice0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001609HP:0001609Hoarse voice0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001609HP:0001609Hoarse voice0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0001609HP:0001609Hoarse voice0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0001609HP:0001609Hoarse voice0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001609HP:0001609Hoarse voice0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0001609HP:0001609Hoarse voice0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0001609HP:0001609Hoarse voice0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001609HP:0001609Hoarse voice0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0001609HP:0001609Hoarse voice0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0001609HP:0001609Hoarse voice0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0001609HP:0001609Hoarse voice0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001609HP:0001609Hoarse voice0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0001609HP:0001609Hoarse voice0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0001609HP:0001609Hoarse voice0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0001609HP:0001609Hoarse voice0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0001609HP:0001609Hoarse voice0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001609HP:0001609Hoarse voice0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0001609HP:0001609Hoarse voice0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0001609HP:0001609Hoarse voice0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001609HP:0001609Hoarse voice0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0001609HP:0001609Hoarse voice0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001609HP:0001609Hoarse voice0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001609HP:0001609Hoarse voice0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001609HP:0001609Hoarse voice0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001609HP:0001609Hoarse voice0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001609HP:0001609Hoarse voice0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001609HP:0001609Hoarse voice0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0001609HP:0001609Hoarse voice0SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0001609HP:0001609Hoarse voice0SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0001609HP:0001609Hoarse voice0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0001609HP:0001609Hoarse voice0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040283 - Occasional64
HP:0001609HP:0001609Hoarse voice0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001609HP:0001609Hoarse voice0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome.55
HP:0001609HP:0001609Hoarse voice0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0001609HP:0001609Hoarse voice0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0001609HP:0001609Hoarse voice0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0001609HP:0001609Hoarse voice0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001609HP:0001609Hoarse voice0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0001609HP:0001609Hoarse voice0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0001609HP:0001609Hoarse voice0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0001609HP:0001609Hoarse voice0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0001609HP:0001609Hoarse voice0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001609Hoarse voice0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0001609HP:0001609Hoarse voice0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0001609HP:0001609Hoarse voice0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0001609HP:0001609Hoarse voice0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0001609HP:0001609Hoarse voice0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2
HP:0001609HP:0001609Hoarse voice0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0001609HP:0001609Hoarse voice0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0001609HP:0001609Hoarse voice0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0001609HP:0001609Hoarse voice0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001609HP:0001615Hoarse cry1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0001609HP:0001615Hoarse cry1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001609HP:0001615Hoarse cry1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001609HP:0001615Hoarse cry1DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040283 - Occasional121
HP:0001609HP:0001615Hoarse cry1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001609HP:0001615Hoarse cry1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0001609HP:0001615Hoarse cry1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0001609HP:0001615Hoarse cry1LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome.116
HP:0001609HP:0001615Hoarse cry1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0001609HP:0001615Hoarse cry1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0001609HP:0001615Hoarse cry1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0001609HP:0001615Hoarse cry1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001609HP:0001615Hoarse cry1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0001609HP:0001615Hoarse cry1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0001609HP:0001615Hoarse cry1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001609HP:0001615Hoarse cry1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0001609HP:0001615Hoarse cry1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9


Genes (110) :ACAN ACTA1 ADAR AFF2 AGA AIP ARID1B ASAH1 BAZ1B BCL7B BUD23 C1R CDC73 CLIP2 DDRGK1 DEAF1 DLK1 DNAJC30 DUOX2 ECM1 EDA EED EIF4H ELN EZH2 FBN1 FKBP6 FLII FLNA GDAP1 GNE GNPTAB GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HRAS IDS IFIH1 IQSEC2 ITGA7 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LEMD3 LIFR LIMK1 LSM11 LTBP3 MAP3K20 MAPK1 MATR3 MEG3 METTL27 MFN2 MID1 MLXIPL MYH14 MYL2 NCF1 NFE2L2 NLRP1 NSD1 PAX8 PIGN POU1F1 PPP3CA RAI1 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RTL1 SAMHD1 SDHAF2 SDHC SDHD SELENON SERPING1 SHOC2 SLC19A2 SLC26A2 SMS SPART SPTBN1 STX1A SUZ12 TBC1D2B TBL2 THRA TLK2 TMEM270 TPM2 TPM3 TREX1 TRH TRHR TRPV4 TSHB VPS37D

Diseases (83) :OMIM:612813 ORPHA:171866 ORPHA:2020 ORPHA:51 ORPHA:100973 OMIM:309548 OMIM:208400 ORPHA:963 OMIM:135900 ORPHA:333 OMIM:228000 ORPHA:904 OMIM:130080 ORPHA:143 OMIM:602557 ORPHA:93352 ORPHA:819 ORPHA:96334 ORPHA:226316 ORPHA:530 OMIM:247100 OMIM:305100 ORPHA:3447 OMIM:194050 OMIM:277590 OMIM:102370 ORPHA:969 OMIM:309350 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:3166 OMIM:252500 ORPHA:576 ORPHA:373 ORPHA:2662 OMIM:218040 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:217377 ORPHA:79396 OMIM:131760 ORPHA:2309 OMIM:167210 OMIM:245660 ORPHA:79404 OMIM:166700 ORPHA:1306 OMIM:601559 OMIM:617809 OMIM:619087 OMIM:606070 ORPHA:600 ORPHA:99947 OMIM:300000 OMIM:614369 ORPHA:397744 OMIM:617744 OMIM:618803 OMIM:218700 ORPHA:280633 OMIM:613038 OMIM:617711 OMIM:182290 OMIM:601650 OMIM:605373 OMIM:168000 ORPHA:100050 OMIM:607721 OMIM:249270 OMIM:222600 OMIM:309583 ORPHA:101000 OMIM:619475 ORPHA:397973 OMIM:614450 OMIM:618050 OMIM:275120 ORPHA:99832 OMIM:181405 OMIM:275100 ORPHA:90674
 

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