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: |
........Diaphragmatic paralysis (HP:0006597) |
Sister Nodes: |
..Abdominal wall muscle weakness (HP:0009023)
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..Ankle weakness (HP:0031374)
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..Axial muscle weakness (HP:0003327)
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..Bulbar palsy (HP:0001283)
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..Cold paresis (HP:0031372)
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..Distal muscle weakness (HP:0002460)
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..Facial palsy (HP:0010628)
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..Fatigable weakness (HP:0003473)
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..Generalized muscle weakness (HP:0003324)
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..Intercostal muscle weakness (HP:0004878)
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..Limb muscle weakness (HP:0003690)
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..Limb-girdle muscle weakness (HP:0003325)
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..Muscle flaccidity (HP:0010547)
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..Neck muscle weakness (HP:0000467)
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..Poor head control (HP:0002421)
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..Progressive muscle weakness (HP:0003323)
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..Proximal muscle weakness (HP:0003701)
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..Scapuloperoneal weakness (HP:0003704)
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..Weakness of muscles of respiration (HP:0004347)
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..Weakness of orbicularis oculi muscle (HP:0012507)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211500 | Bulbar palsy, progressive, of childhood | . | | | 51 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | TPI1 CL E G H | 7167 | 12009 | ORPHA:868 | Triose phosphate-isomerase deficiency | | | | 28 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | | HP:0009113 | HP:0009113 | Diaphragmatic weakness | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040284 - Very rare | | | 8 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | | HP:0009113 | HP:0006597 | Diaphragmatic paralysis | 1 | TPI1 CL E G H | 7167 | 12009 | ORPHA:868 | Triose phosphate-isomerase deficiency | HP:0040282 - Frequent | | | 28 | | |
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.
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