Dataset | HPO Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. (Human Phenotype Ontology, HP_0003798) |
External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0003798 |
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8 genes associated with the nemaline bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.