Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Myositis (HP:0100614)help
Term ID: 100614
Name: Myositis
Synonym: Muscle inflammation
Definition: A general term for inflammation of the muscles without respect to the underlying cause.
Comments:
Reference: HP:0100614
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) 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:0100614HP:0100614Myositis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare116
HP:0100614HP:0100614Myositis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100614HP:0100614Myositis0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0100614HP:0100614Myositis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100614HP:0100614Myositis0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0100614HP:0100614Myositis0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0100614HP:0100614Myositis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100614HP:0100614Myositis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0100614HP:0100614Myositis0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0100614HP:0100614Myositis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0100614HP:0100614Myositis0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2.5
HP:0100614HP:0100614Myositis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare28
HP:0100614HP:0100614Myositis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0100614HP:0100614Myositis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100614HP:0100614Myositis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100614HP:0100614Myositis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100614HP:0100614Myositis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100614HP:0100614Myositis0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare
HP:0100614HP:0100614Myositis0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0100614HP:0100614Myositis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100614HP:0100614Myositis0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0100614HP:0100614Myositis0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0100614HP:0100614Myositis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0100614HP:0100614Myositis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0100614HP:0100614Myositis0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040282 - Frequent281
HP:0100614HP:0100614Myositis0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0100614HP:0100614Myositis0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0100614HP:0100614Myositis0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0100614HP:0100614Myositis0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040283 - Occasional96
HP:0100614HP:0100614Myositis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare33
HP:0100614HP:0100614Myositis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare34
HP:0100614HP:0100614Myositis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare60
HP:0100614HP:0100614Myositis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0100614HP:0100614Myositis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare55
HP:0100614HP:0100614Myositis0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare
HP:0100614HP:0100614Myositis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100614HP:0100614Myositis0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040284 - Very rare2
HP:0100614HP:0100614Myositis0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0100614HP:0100614Myositis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0100614HP:0100614Myositis0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0100614HP:0100614Myositis0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0100614HP:0100614Myositis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare56
HP:0100614HP:0100614Myositis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (40) :ADAR C4A CAPN3 CCR1 COX1 COX3 ERAP1 FAS FOXP3 HLA-B HNRNPA2B1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRAK1 IRF4 KLRC4 LAMA2 LPIN1 LSM11 MEFV PSMB4 PSMB9 PSMG2 PSTPIP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SPP1 STAT4 STING1 TLR4 TNFRSF1A TREX1 UBAC2

Diseases (16) :ORPHA:51 ORPHA:117 OMIM:253600 ORPHA:99845 ORPHA:37042 OMIM:615422 ORPHA:93552 ORPHA:3452 ORPHA:258 ORPHA:3243 OMIM:617591 OMIM:619183 ORPHA:69126 OMIM:615934 OMIM:142680 ORPHA:32960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.