Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle physiology (HP:0011804)help
Parent Node:
expand
Abnormality of the diaphragm (HP:0000775)help
Parent Node:
expand
Muscle weakness (HP:0001324)help
..Starting node
..expand
Diaphragmatic weakness (HP:0009113)help
Term ID: 9113
Name: Diaphragmatic weakness
Synonym: Diaphragmatic paraparesis; Diminished diaphragmatic motion; Weak diaphragm
Definition: A decrease in the strength of the diaphragm.
Comments:
Reference: HP:0009113
Genes and Diseases:
 
       Child Nodes:
........expandDiaphragmatic paralysis (HP:0006597) help

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) 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:0009113HP:0009113Diaphragmatic weakness0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0009113HP:0009113Diaphragmatic weakness0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0009113HP:0009113Diaphragmatic weakness0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0009113HP:0009113Diaphragmatic weakness0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0009113HP:0009113Diaphragmatic weakness0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0009113HP:0009113Diaphragmatic weakness0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0009113HP:0009113Diaphragmatic weakness0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0009113HP:0009113Diaphragmatic weakness0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0009113HP:0009113Diaphragmatic weakness0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0009113HP:0009113Diaphragmatic weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0009113HP:0009113Diaphragmatic weakness0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040283 - Occasional79
HP:0009113HP:0009113Diaphragmatic weakness0REEP1 CL E G H6505525786OMIM:62001187
HP:0009113HP:0009113Diaphragmatic weakness0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0009113HP:0009113Diaphragmatic weakness0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0009113HP:0009113Diaphragmatic weakness0TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiency28
HP:0009113HP:0009113Diaphragmatic weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0009113HP:0009113Diaphragmatic weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0009113HP:0009113Diaphragmatic weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0009113HP:0006597Diaphragmatic paralysis1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0009113HP:0006597Diaphragmatic paralysis1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0009113HP:0006597Diaphragmatic paralysis1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0009113HP:0006597Diaphragmatic paralysis1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0009113HP:0006597Diaphragmatic paralysis1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040284 - Very rare8
HP:0009113HP:0006597Diaphragmatic paralysis1REEP1 CL E G H6505525786OMIM:62001187
HP:0009113HP:0006597Diaphragmatic paralysis1TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiencyHP:0040282 - Frequent28


Genes (16) :BAG3 CHRNA1 COL12A1 COL6A1 COL6A2 COL6A3 GAA IGHMBP2 MEGF10 MORC2 PMP22 REEP1 SLC52A3 TPI1 TRPV4 TTN

Diseases (15) :OMIM:612954 OMIM:601462 ORPHA:75840 OMIM:232300 OMIM:604320 OMIM:614399 ORPHA:466768 ORPHA:101081 OMIM:620011 OMIM:211530 OMIM:211500 ORPHA:868 OMIM:606071 OMIM:181405 OMIM:603689
 

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