Human Phenotype Ontology

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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 larynx (HP:0001600)

Parent Node:
Abnormal larynx physiology (HP:0025424)

..Starting node
..Laryngeal stridor (HP:0006511)

Term ID:

6511

Name:

Laryngeal stridor

Synonym:

Laryngeal stidor

Definition:

An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.

Comments:

Reference:

HP:0006511

Genes and Diseases:

Child Nodes:

Sister Nodes:

Laryngospasm (HP:0025425)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006511	HP:0006511	Laryngeal stridor	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0006511	HP:0006511	Laryngeal stridor	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0006511	HP:0006511	Laryngeal stridor	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	HP:0040283 - Occasional	7
HP:0006511	HP:0006511	Laryngeal stridor	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0006511	HP:0006511	Laryngeal stridor	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0006511	HP:0006511	Laryngeal stridor	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040283 - Occasional	21
HP:0006511	HP:0006511	Laryngeal stridor	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13

Genes (6) :ASAH1 BRF1 BTD PLP1 TAF1 UBE3B

Diseases (7) :ORPHA:333 ORPHA:444072 OMIM:616202 ORPHA:79241 ORPHA:280210 ORPHA:53351 OMIM:244450

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