Human Phenotype Ontology 
Grandparent Node:
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Abnormality of facial soft tissue (HP:0011799)help
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of facial musculature (HP:0000301)help
..Starting node
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Abnormality of jaw muscles (HP:0045037)help
Term ID: 45037
Name: Abnormality of jaw muscles
Synonym: Abnormality of jaw muscles
Definition:
Comments:
Reference: HP:0045037
Genes and Diseases:
 
       Child Nodes:
........expandJaw hyporeflexia (HP:0012392) help
........expandAbnormality of masticatory muscle (HP:0410011) help
................... HP:3000005 Abnormality of masseter muscle
................... HP:3000006 Abnormality of medial pterygoid muscle
................... HP:3000017 Abnormality of temporalis muscle
................... HP:3000068 Abnormality of lateral pterygoid muscle

 Sister Nodes: 
..expandAbnormal platysma muscle morphology (HP:3000013) help
..expandAbnormality of muscle of facial expression (HP:0430019) help
..expandAbnormality of mylohyoid muscle (HP:3000008) help
..expandAbnormality of nasal musculature (HP:0430018) help
..expandFacial hypotonia (HP:0000297) help
..expandFacial muscle hypertrophy (HP:0012892) help
..expandFacial myokymia (HP:0000317) help
..expandHypomimic face (HP:0000338) help
..expandHypoplasia of facial musculature (HP:0004660) help
..expandSpasticity of facial muscles (HP:0002491) help
..expandWeakness of facial musculature (HP:0030319) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045037HP:0045037Abnormality of jaw muscles0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0045037HP:0045037Abnormality of jaw muscles0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0045037HP:0045037Abnormality of jaw muscles0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0045037HP:0045037Abnormality of jaw muscles0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0045037HP:0045037Abnormality of jaw muscles0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0045037HP:0045037Abnormality of jaw muscles0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0045037HP:0045037Abnormality of jaw muscles0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0045037HP:0045037Abnormality of jaw muscles0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0045037HP:0045037Abnormality of jaw muscles0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0045037HP:0045037Abnormality of jaw muscles0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0045037HP:0045037Abnormality of jaw muscles0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0045037HP:0045037Abnormality of jaw muscles0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0045037HP:0045037Abnormality of jaw muscles0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0045037HP:0045037Abnormality of jaw muscles0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0045037HP:0045037Abnormality of jaw muscles0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolus99
HP:0045037HP:0045037Abnormality of jaw muscles0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0045037HP:0045037Abnormality of jaw muscles0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0045037HP:0045037Abnormality of jaw muscles0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolus12
HP:0045037HP:0045037Abnormality of jaw muscles0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0045037HP:0045037Abnormality of jaw muscles0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolus4
HP:0045037HP:0045037Abnormality of jaw muscles0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0045037HP:0045037Abnormality of jaw muscles0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0045037HP:0045037Abnormality of jaw muscles0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0045037HP:0045037Abnormality of jaw muscles0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0045037HP:0045037Abnormality of jaw muscles0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0045037HP:0045037Abnormality of jaw muscles0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0045037HP:0045037Abnormality of jaw muscles0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolus140
HP:0045037HP:0012392Jaw hyporeflexia1 CL E G H
HP:0045037HP:0410011Abnormality of masticatory muscle1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0045037HP:0410011Abnormality of masticatory muscle1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0045037HP:0410011Abnormality of masticatory muscle1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0045037HP:0410011Abnormality of masticatory muscle1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0045037HP:0410011Abnormality of masticatory muscle1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0045037HP:0410011Abnormality of masticatory muscle1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0045037HP:0410011Abnormality of masticatory muscle1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0045037HP:0410011Abnormality of masticatory muscle1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0045037HP:0410011Abnormality of masticatory muscle1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0045037HP:0410011Abnormality of masticatory muscle1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0045037HP:0410011Abnormality of masticatory muscle1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0045037HP:0410011Abnormality of masticatory muscle1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0045037HP:0410011Abnormality of masticatory muscle1IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent99
HP:0045037HP:0410011Abnormality of masticatory muscle1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0045037HP:0410011Abnormality of masticatory muscle1MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent12
HP:0045037HP:0410011Abnormality of masticatory muscle1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0045037HP:0410011Abnormality of masticatory muscle1NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent4
HP:0045037HP:0410011Abnormality of masticatory muscle1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0045037HP:0410011Abnormality of masticatory muscle1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0045037HP:0410011Abnormality of masticatory muscle1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0045037HP:0410011Abnormality of masticatory muscle1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0045037HP:0410011Abnormality of masticatory muscle1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0045037HP:0410011Abnormality of masticatory muscle1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0045037HP:0410011Abnormality of masticatory muscle1TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent140
HP:0045037HP:3000017Abnormality of temporalis muscle2 CL E G H
HP:0045037HP:3000006Abnormality of medial pterygoid muscle2 CL E G H
HP:0045037HP:3000068Abnormality of lateral pterygoid muscle2 CL E G H
HP:0045037HP:3000005Abnormality of masseter muscle2CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0045037HP:3000005Abnormality of masseter muscle2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0045037HP:3000005Abnormality of masseter muscle2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0045037HP:3000005Abnormality of masseter muscle2RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0045037HP:0045085Atrophy of masseter muscle3 CL E G H


Genes (27) :ADGRG1 AGRN AK9 ATXN1 CACNA1S CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COX1 COX3 DOK7 GIPC1 IRF6 LPIN1 LRP4 MSX1 MUSK NECTIN1 NOTCH2NLC PI4KA RAPSN RYR1 SCN4A SRPX2 TP63

Diseases (7) :ORPHA:98889 ORPHA:98913 ORPHA:98755 ORPHA:423 ORPHA:99845 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.