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 mouth (HP:0000153)

Parent Node:
Abnormal oral physiology (HP:0031815)

..Starting node
..Impaired mastication (HP:0005216)

Term ID:

5216

Name:

Impaired mastication

Synonym:

Chewing difficulties; Chewing difficulty; Difficulty chewing

Definition:

An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.

Comments:

Reference:

HP:0005216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of salivation (HP:0100755)

Halitosis (HP:0100812)

Oral bleeding (HP:0040184)

Oral cavity bleeding (HP:0030140)

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:0005216	HP:0005216	Impaired mastication	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0005216	HP:0005216	Impaired mastication	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0005216	HP:0005216	Impaired mastication	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040284 - Very rare
HP:0005216	HP:0005216	Impaired mastication	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0005216	HP:0005216	Impaired mastication	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0005216	HP:0005216	Impaired mastication	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	435
HP:0005216	HP:0005216	Impaired mastication	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0005216	HP:0005216	Impaired mastication	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0005216	HP:0005216	Impaired mastication	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0005216	HP:0005216	Impaired mastication	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0005216	HP:0005216	Impaired mastication	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	115
HP:0005216	HP:0005216	Impaired mastication	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	56
HP:0005216	HP:0005216	Impaired mastication	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0005216	HP:0005216	Impaired mastication	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	172
HP:0005216	HP:0005216	Impaired mastication	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0005216	HP:0005216	Impaired mastication	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0005216	HP:0005216	Impaired mastication	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0005216	HP:0005216	Impaired mastication	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0005216	HP:0005216	Impaired mastication	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0005216	HP:0005216	Impaired mastication	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0005216	HP:0005216	Impaired mastication	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0005216	HP:0005216	Impaired mastication	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0005216	HP:0005216	Impaired mastication	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0005216	HP:0005216	Impaired mastication	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	99
HP:0005216	HP:0005216	Impaired mastication	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	99
HP:0005216	HP:0005216	Impaired mastication	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0005216	HP:0005216	Impaired mastication	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0005216	HP:0005216	Impaired mastication	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0005216	HP:0005216	Impaired mastication	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0005216	HP:0005216	Impaired mastication	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0005216	HP:0005216	Impaired mastication	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0005216	HP:0005216	Impaired mastication	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	26
HP:0005216	HP:0005216	Impaired mastication	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0005216	HP:0005216	Impaired mastication	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	12
HP:0005216	HP:0005216	Impaired mastication	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	12
HP:0005216	HP:0005216	Impaired mastication	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0005216	HP:0005216	Impaired mastication	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0005216	HP:0005216	Impaired mastication	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0005216	HP:0005216	Impaired mastication	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0005216	HP:0005216	Impaired mastication	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	4
HP:0005216	HP:0005216	Impaired mastication	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0005216	HP:0005216	Impaired mastication	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	58
HP:0005216	HP:0005216	Impaired mastication	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0005216	HP:0005216	Impaired mastication	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0005216	HP:0005216	Impaired mastication	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040284 - Very rare	166
HP:0005216	HP:0005216	Impaired mastication	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0005216	HP:0005216	Impaired mastication	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0005216	HP:0005216	Impaired mastication	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0005216	HP:0005216	Impaired mastication	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	8
HP:0005216	HP:0005216	Impaired mastication	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent
HP:0005216	HP:0005216	Impaired mastication	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	140
HP:0005216	HP:0005216	Impaired mastication	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0005216	HP:0005216	Impaired mastication	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0005216	HP:0005216	Impaired mastication	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0005216	HP:0005216	Impaired mastication	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	71
HP:0005216	HP:0005216	Impaired mastication	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040281 - Very frequent	4

Genes (50) :ACTA1 ADNP ADSS1 ALS2 AXIN2 CHRNA1 COLQ COX1 COX3 EDA EDARADD FARS2 FGFR1 GNAI3 GRIN1 H4C5 HACD1 HLA-B HLA-DRB1 HOXB1 IDS IRF6 ITGA7 KANSL1 LAMA2 LAMB2 LPIN1 LRP6 MAP3K20 MSX1 MTRFR MYL2 NAA20 NECTIN1 P4HA2 PAX9 PPP2R5D PTPN22 PYGM PYROXD1 SELENON SLC39A14 SUMO1 TGFA TP63 TPM2 TPM3 TUBB3 WNT10A WNT10B

Diseases (29) :ORPHA:2020 ORPHA:404448 ORPHA:482601 ORPHA:293168 OMIM:607225 ORPHA:99798 OMIM:601462 ORPHA:98915 ORPHA:99845 ORPHA:466722 OMIM:602483 ORPHA:208447 OMIM:619950 ORPHA:397 OMIM:614744 ORPHA:217093 ORPHA:217085 ORPHA:141291 ORPHA:363958 ORPHA:363965 ORPHA:258 ORPHA:254930 OMIM:613559 OMIM:619717 ORPHA:457279 ORPHA:368 OMIM:617258 OMIM:617013 ORPHA:300570

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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