Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the upper respiratory tract (HP:0002087)

Parent Node:
Abnormality of the larynx (HP:0001600)

..Starting node
..Abnormal larynx physiology (HP:0025424)

Term ID:

25424

Name:

Abnormal larynx physiology

Synonym:

Definition:

Any anomaly of the function of the larynx.

Comments:

Reference:

HP:0025424

Genes and Diseases:

Child Nodes:

........

Laryngeal stridor (HP:0006511)

........

Laryngospasm (HP:0025425)

Sister Nodes:

Abnormal larynx morphology (HP:0025423)

Neoplasm of the larynx (HP:0100605)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025424	HP:0025424	Abnormal larynx physiology	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0025424	HP:0025424	Abnormal larynx physiology	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0025424	HP:0025424	Abnormal larynx physiology	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0025424	HP:0025424	Abnormal larynx physiology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0025424	HP:0025424	Abnormal larynx physiology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0025424	HP:0025424	Abnormal larynx physiology	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0025424	HP:0025424	Abnormal larynx physiology	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0025424	HP:0025424	Abnormal larynx physiology	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0025424	HP:0025424	Abnormal larynx physiology	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0025424	HP:0025424	Abnormal larynx physiology	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0025424	HP:0025424	Abnormal larynx physiology	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0025424	HP:0025424	Abnormal larynx physiology	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0025424	HP:0025424	Abnormal larynx physiology	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0025424	HP:0025424	Abnormal larynx physiology	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0025424	HP:0025424	Abnormal larynx physiology	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0025424	HP:0025424	Abnormal larynx physiology	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0025424	HP:0025424	Abnormal larynx physiology	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0025424	HP:0025424	Abnormal larynx physiology	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0025424	HP:0025424	Abnormal larynx physiology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0025424	HP:0025424	Abnormal larynx physiology	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0025424	HP:0025424	Abnormal larynx physiology	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0025424	HP:0025424	Abnormal larynx physiology	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0025424	HP:0025424	Abnormal larynx physiology	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025424	HP:0025424	Abnormal larynx physiology	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0025424	HP:0025424	Abnormal larynx physiology	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0025424	HP:0025424	Abnormal larynx physiology	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated			263
HP:0025424	HP:0025424	Abnormal larynx physiology	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0025424	HP:0025424	Abnormal larynx physiology	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0025424	HP:0025424	Abnormal larynx physiology	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism			21
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0025424	HP:0025424	Abnormal larynx physiology	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0025424	HP:0025424	Abnormal larynx physiology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0025424	HP:0025424	Abnormal larynx physiology	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0025424	HP:0025424	Abnormal larynx physiology	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0025424	HP:0025424	Abnormal larynx physiology	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0025424	HP:0025424	Abnormal larynx physiology	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0025424	HP:0025425	Laryngospasm	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		32
HP:0025424	HP:0025425	Laryngospasm	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0006511	Laryngeal stridor	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0025424	HP:0025425	Laryngospasm	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		11
HP:0025424	HP:0006511	Laryngeal stridor	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent		7
HP:0025424	HP:0006511	Laryngeal stridor	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	HP:0040283 - Occasional		7
HP:0025424	HP:0006511	Laryngeal stridor	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0025424	HP:0025425	Laryngospasm	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		56
HP:0025424	HP:0025425	Laryngospasm	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1			272
HP:0025424	HP:0025425	Laryngospasm	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0025425	Laryngospasm	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0025425	Laryngospasm	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		11
HP:0025424	HP:0025425	Laryngospasm	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		42
HP:0025424	HP:0025425	Laryngospasm	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0025425	Laryngospasm	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		86
HP:0025424	HP:0025425	Laryngospasm	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		4
HP:0025424	HP:0025425	Laryngospasm	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		15
HP:0025424	HP:0025425	Laryngospasm	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		111
HP:0025424	HP:0025425	Laryngospasm	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0025424	HP:0025425	Laryngospasm	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		139
HP:0025424	HP:0025425	Laryngospasm	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		45
HP:0025424	HP:0025425	Laryngospasm	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0025425	Laryngospasm	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		434
HP:0025424	HP:0025425	Laryngospasm	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		31
HP:0025424	HP:0025425	Laryngospasm	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		80
HP:0025424	HP:0025425	Laryngospasm	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		24
HP:0025424	HP:0025425	Laryngospasm	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		101
HP:0025424	HP:0025425	Laryngospasm	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		62
HP:0025424	HP:0025425	Laryngospasm	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0025424	HP:0006511	Laryngeal stridor	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0025424	HP:0025425	Laryngospasm	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		4
HP:0025424	HP:0025425	Laryngospasm	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		2
HP:0025424	HP:0025425	Laryngospasm	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0025424	HP:0025425	Laryngospasm	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0025424	HP:0025425	Laryngospasm	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		25
HP:0025424	HP:0025425	Laryngospasm	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0025424	HP:0025425	Laryngospasm	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	HP:0003623 - Neonatal onset	263
HP:0025424	HP:0025425	Laryngospasm	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		53
HP:0025424	HP:0025425	Laryngospasm	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		62
HP:0025424	HP:0025425	Laryngospasm	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		50
HP:0025424	HP:0006511	Laryngeal stridor	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040283 - Occasional		21
HP:0025424	HP:0025425	Laryngospasm	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0025424	HP:0025425	Laryngospasm	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		65
HP:0025424	HP:0025425	Laryngospasm	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		20
HP:0025424	HP:0025425	Laryngospasm	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		31
HP:0025424	HP:0025425	Laryngospasm	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0025424	HP:0006511	Laryngeal stridor	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0025424	HP:0025425	Laryngospasm	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		20
HP:0025424	HP:0025425	Laryngospasm	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0025424	HP:0025425	Laryngospasm	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		116
HP:0025424	HP:0025425	Laryngospasm	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		63

Genes (49) :ANG ANXA11 ASAH1 ATXN2 BRF1 BTD C9ORF72 CASR CCNF CFAP410 CHCHD10 CHMP2B DAO DCTN1 EPHA4 ERBB4 FIG4 FUS GABRG2 GLE1 GLT8D1 GRIN2A HNRNPA1 MATR3 NEFH NEK1 OPTN PFN1 PLP1 PON1 PON2 PON3 PPARGC1A PRPH SCN4A SOD1 SQSTM1 SRPX2 TAF1 TAF15 TARDBP TBK1 TREM2 TSPYL1 UBE3B UBQLN2 UNC13A VAPB VCP

Diseases (13) :ORPHA:803 ORPHA:333 ORPHA:444072 OMIM:616202 ORPHA:79241 OMIM:601198 ORPHA:1945 ORPHA:280210 ORPHA:99734 OMIM:608390 ORPHA:53351 OMIM:608800 OMIM:244450

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

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