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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High pitched voice (HP:0001620)help
Term ID: 1620
Name: High pitched voice
Synonym: High pitched voice; High-pitched voice
Definition: An abnormal increase in the pitch (frequency) of the voice.
Comments:
Reference: HP:0001620
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cry (HP:0025429) help
..expandAbnormal speech prosody (HP:0031434) help
..expandAbnormally low-pitched voice (HP:0010300) help
..expandDysphonia (HP:0001618) help
..expandHoarse voice (HP:0001609) 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:0001620HP:0001620High pitched voice0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001620HP:0001620High pitched voice0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0001620HP:0001620High pitched voice0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001620HP:0001620High pitched voice0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0001620HP:0001620High pitched voice0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001620HP:0001620High pitched voice0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0001620HP:0001620High pitched voice0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0001620HP:0001620High pitched voice0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0001620HP:0001620High pitched voice0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040283 - Occasional8
HP:0001620HP:0001620High pitched voice0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2HP:0040283 - Occasional8
HP:0001620HP:0001620High pitched voice0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001620HP:0001620High pitched voice0GHR CL E G H26904263OMIM:262500Laron syndrome.98
HP:0001620HP:0001620High pitched voice0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0001620HP:0001620High pitched voice0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0001620HP:0001620High pitched voice0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0001620HP:0001620High pitched voice0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001620HP:0001620High pitched voice0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001620HP:0001620High pitched voice0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0001620HP:0001620High pitched voice0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0001620HP:0001620High pitched voice0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0001620HP:0001620High pitched voice0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001620HP:0001620High pitched voice0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0001620HP:0001620High pitched voice0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0001620HP:0001620High pitched voice0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001620HP:0001620High pitched voice0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0001620HP:0001620High pitched voice0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0001620HP:0001620High pitched voice0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0001620HP:0001620High pitched voice0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 1.2
HP:0001620HP:0001620High pitched voice0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0001620HP:0001620High pitched voice0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001620HP:0001620High pitched voice0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0001620HP:0001620High pitched voice0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0001620HP:0001620High pitched voice0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001620HP:0001620High pitched voice0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0001620HP:0001620High pitched voice0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001620HP:0001620High pitched voice0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0001620HP:0001620High pitched voice0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040282 - Frequent43
HP:0001620HP:0001620High pitched voice0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0001620HP:0001620High pitched voice0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0001620HP:0001620High pitched voice0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0001620HP:0001620High pitched voice0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0001620HP:0001620High pitched voice0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0001620HP:0001620High pitched voice0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0001620HP:0001620High pitched voice0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0001620HP:0001620High pitched voice0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0001620HP:0001620High pitched voice0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001620HP:0001620High pitched voice0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0001620HP:0001620High pitched voice0TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanismHP:0040281 - Very frequent78
HP:0001620HP:0001620High pitched voice0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0001620HP:0001620High pitched voice0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0001620HP:0001620High pitched voice0WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0001620HP:0001620High pitched voice0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0001620HP:0001620High pitched voice0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (44) :ADAMTSL2 AR ARID1B BLM BSCL2 CHRNB1 CTNND2 ERCC4 FAM111A FMR1 GHR GRB10 HSPG2 IGF1R ITPA LMNA MDM2 MED12 MORC2 MTX2 MYH7 NBAS ORC4 P4HB PCNT POC1A POLD1 PPP1R15B RBBP8 RIN2 SEC24D SELENON SEMA5A SERPINH1 SMARCAL1 SRCAP STAT5B SYT2 TRIM37 TRMT10A TTN WRN XRCC4 ZMPSTE24

Diseases (48) :OMIM:231050 ORPHA:90797 OMIM:135900 OMIM:210900 OMIM:269700 OMIM:616313 ORPHA:281 OMIM:610965 ORPHA:93325 OMIM:127000 ORPHA:261483 OMIM:262500 ORPHA:633 ORPHA:96182 ORPHA:800 OMIM:255800 OMIM:270450 OMIM:616647 ORPHA:740 OMIM:618681 OMIM:305450 ORPHA:466768 OMIM:616688 OMIM:619127 ORPHA:324604 OMIM:614800 OMIM:613800 OMIM:112240 ORPHA:2637 OMIM:210720 OMIM:614813 OMIM:615381 OMIM:616817 ORPHA:391408 OMIM:606744 OMIM:613075 ORPHA:217335 OMIM:616294 OMIM:602771 OMIM:613848 OMIM:242900 ORPHA:2044 OMIM:245590 OMIM:619461 OMIM:253250 ORPHA:2576 OMIM:277700 OMIM:616541
 

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