| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal muscle fiber morphology (HP:0004303) | Parent Node:
Abnormality of skeletal muscle fiber size (HP:0012084) | ..Starting node
..Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)
|
| Term ID: |
3755 |
| Name: |
Type 1 fibers relatively smaller than type 2 fibers |
| Synonym: |
Type 1 fibres relatively smaller than type 2 fibres |
| Definition: |
The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. |
| Comments: |
|
| Reference: |
HP:0003755 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Increased variability in muscle fiber diameter (HP:0003557)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | | | HP:0003755 | HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
Genes (8) :ACTA1 MTM1 MYH7 MYL2 RYR1 SELENON TPM2 TPM3
Diseases (3) :OMIM:255310 ORPHA:596 OMIM:619424 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
|
|
