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 facial musculature (HP:0000301)

Parent Node:
Abnormality of jaw muscles (HP:0045037)

..Starting node
..Abnormality of masticatory muscle (HP:0410011)

Term ID:

410011

Name:

Abnormality of masticatory muscle

Synonym:

Abnormality of muscles of mastication

Definition:

Any abnormality of the masticatory muscle.

Comments:

Reference:

HP:0410011

Genes and Diseases:

Child Nodes:

........

Abnormality of masseter muscle (HP:3000005)

................... HP:0045085 Atrophy of masseter muscle

........

Abnormality of medial pterygoid muscle (HP:3000006)

........

Abnormality of temporalis muscle (HP:3000017)

........

Abnormality of lateral pterygoid muscle (HP:3000068)

Sister Nodes:

Jaw hyporeflexia (HP:0012392)

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:0410011	HP:0410011	Abnormality of masticatory muscle	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	99
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	12
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	4
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0410011	HP:0410011	Abnormality of masticatory muscle	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	140
HP:0410011	HP:3000006	Abnormality of medial pterygoid muscle	1	CL E G H
HP:0410011	HP:3000068	Abnormality of lateral pterygoid muscle	1	CL E G H
HP:0410011	HP:3000017	Abnormality of temporalis muscle	1	CL E G H
HP:0410011	HP:3000005	Abnormality of masseter muscle	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0410011	HP:3000005	Abnormality of masseter muscle	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0410011	HP:3000005	Abnormality of masseter muscle	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0410011	HP:3000005	Abnormality of masseter muscle	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0410011	HP:0045085	Atrophy of masseter muscle	2	CL E G H

Genes (24) :ADGRG1 AGRN AK9 ATXN1 CACNA1S CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 GIPC1 IRF6 LRP4 MSX1 MUSK NECTIN1 NOTCH2NLC PI4KA RAPSN RYR1 SCN4A SRPX2 TP63

Diseases (6) :ORPHA:98889 ORPHA:98913 ORPHA:98755 ORPHA:423 ORPHA:98897 ORPHA:141291

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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