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:
Abnormal esophagus physiology (HP:0025270)

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Dysphagia (HP:0002015)

..Starting node
..Impaired oropharyngeal swallow response (HP:0031162)

Term ID:

31162

Name:

Impaired oropharyngeal swallow response

Synonym:

Definition:

Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.

Comments:

Reference:

HP:0031162

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired oral bolus formation (HP:0031146)

Neuromuscular dysphagia (HP:0002068)

Oral-pharyngeal dysphagia (HP:0200136)

Pseudobulbar paralysis (HP:0007024)

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:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040283 - Occasional	21
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0031162	HP:0031162	Impaired oropharyngeal swallow response	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102

Genes (12) :BRAF GIPC1 NGLY1 NOTCH2NLC PLAA PMP22 SEPSECS TAF1 TSEN15 TSEN2 TSEN34 TSEN54

Diseases (8) :OMIM:613706 ORPHA:98897 ORPHA:404454 OMIM:615273 ORPHA:521426 ORPHA:98916 ORPHA:2524 ORPHA:53351

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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