Human Phenotype
Ontology
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..Starting node ..Decreased compound muscle action potential amplitude (HP:0033383)
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Term ID: |
33383 |
Name: |
Decreased compound muscle action potential amplitude |
Synonym: |
Decreased CMAP amplitude |
Definition: |
Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. |
Comments: |
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Reference: |
HP:0033383 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | 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:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | | HP:0033383 | HP:0033383 | Decreased compound muscle action potential amplitude | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
Genes (11) :ALS2 BSCL2 CADM3 DNAJB6 EMILIN1 KARS1 PMP2 RAB7A SETX SYT2 UQCRC1
Diseases (11) :OMIM:606353 OMIM:619112 OMIM:619519 OMIM:603511 OMIM:620080 OMIM:613641 OMIM:618279 OMIM:600882 OMIM:602433 OMIM:616040 OMIM:619279 |
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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