Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Abnormal axial muscle morphology (HP:0040286)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Axial muscle weakness (HP:0003327)help
Term ID: 3327
Name: Axial muscle weakness
Synonym:
Definition: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Comments:
Reference: HP:0003327
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) 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:0003327HP:0003327Axial muscle weakness0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0003327HP:0003327Axial muscle weakness0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0003327HP:0003327Axial muscle weakness0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003327HP:0003327Axial muscle weakness0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0003327HP:0003327Axial muscle weakness0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0003327HP:0003327Axial muscle weakness0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0003327HP:0003327Axial muscle weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0003327HP:0003327Axial muscle weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0003327HP:0003327Axial muscle weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0003327HP:0003327Axial muscle weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0003327HP:0003327Axial muscle weakness0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0003327HP:0003327Axial muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0003327HP:0003327Axial muscle weakness0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040281 - Very frequent263
HP:0003327HP:0003327Axial muscle weakness0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0003327HP:0003327Axial muscle weakness0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0003327HP:0003327Axial muscle weakness0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0003327HP:0003327Axial muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003327HP:0003327Axial muscle weakness0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0003327HP:0003327Axial muscle weakness0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0003327HP:0003327Axial muscle weakness0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0003327HP:0003327Axial muscle weakness0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0003327HP:0003327Axial muscle weakness0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0003327HP:0003327Axial muscle weakness0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040281 - Very frequent645
HP:0003327HP:0003327Axial muscle weakness0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0003327HP:0003327Axial muscle weakness0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0003327HP:0003327Axial muscle weakness0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003327HP:0003327Axial muscle weakness0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0003327HP:0003327Axial muscle weakness0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003327HP:0003327Axial muscle weakness0MYMX CL E G H10192972652391OMIM:619941
HP:0003327HP:0003327Axial muscle weakness0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0003327HP:0003327Axial muscle weakness0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0003327HP:0003327Axial muscle weakness0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0003327HP:0003327Axial muscle weakness0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0003327HP:0003327Axial muscle weakness0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0003327HP:0003327Axial muscle weakness0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003327HP:0003327Axial muscle weakness0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0003327HP:0003327Axial muscle weakness0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0003327HP:0003327Axial muscle weakness0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1.144
HP:0003327HP:0003327Axial muscle weakness0SPEG CL E G H1029016901OMIM:615959Myopathy, centronuclear, 5.20
HP:0003327HP:0003327Axial muscle weakness0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0003327HP:0003327Axial muscle weakness0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003327HP:0003327Axial muscle weakness0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003327HP:0003327Axial muscle weakness0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003327HP:0003327Axial muscle weakness0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003327HP:0003327Axial muscle weakness0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0003327HP:0003327Axial muscle weakness0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111


Genes (37) :ACTA1 BICD2 BIN1 CFL2 COL12A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DES DOK7 FKRP GMPPB KLHL40 KLHL41 LAMB2 LARGE1 LMNA LMOD3 MYBPC1 MYH7 MYL1 MYMX NEB POMT1 POMT2 RYR1 SELENON SPEG TPM2 TRNL1 TRNL2 TRNN TRNS1 TTN UNC45B

Diseases (24) :ORPHA:171430 ORPHA:171436 ORPHA:97240 OMIM:615290 OMIM:255200 ORPHA:610 ORPHA:98915 ORPHA:399058 ORPHA:98909 OMIM:254300 ORPHA:370968 ORPHA:363623 ORPHA:157973 OMIM:618524 ORPHA:324604 OMIM:618414 OMIM:619941 ORPHA:98905 OMIM:255320 ORPHA:178145 OMIM:602771 OMIM:615959 ORPHA:663 OMIM:619178
 

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