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 consumption behavior (HP:0040202)

Parent Node:
Abnormal eating behavior (HP:0100738)

..Starting node
..Choking episodes (HP:0030842)

Term ID:

30842

Name:

Choking episodes

Synonym:

Definition:

Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.

Comments:

Reference:

HP:0030842

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulimia (HP:0100739)

Oral aversion (HP:0012523)

Pica (HP:0011856)

Polyphagia (HP:0002591)

Salt craving (HP:0030083)

Sweet craving (HP:0030221)

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:0030842	HP:0030842	Choking episodes	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0030842	HP:0030842	Choking episodes	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent	449
HP:0030842	HP:0030842	Choking episodes	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0030842	HP:0030842	Choking episodes	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0030842	HP:0030842	Choking episodes	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0030842	HP:0030842	Choking episodes	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0030842	HP:0030842	Choking episodes	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare	133
HP:0030842	HP:0030842	Choking episodes	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare	263
HP:0030842	HP:0030842	Choking episodes	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0030842	HP:0030842	Choking episodes	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0030842	HP:0030842	Choking episodes	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0030842	HP:0030842	Choking episodes	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0030842	HP:0030842	Choking episodes	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0030842	HP:0030842	Choking episodes	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0030842	HP:0030842	Choking episodes	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0030842	HP:0030842	Choking episodes	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (16) :AGRN CACNA1A CHAT COL13A1 HTT MYO9A PLA2G6 SCN4A SLC18A3 SLC25A1 SLC2A3 SLC5A7 SNAP25 SYT2 VAMP1 ZNF699

Diseases (6) :ORPHA:98914 ORPHA:98758 ORPHA:399 ORPHA:35069 ORPHA:99734 OMIM:619488

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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