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Experimental Factor Ontology
Last uploaded:
February 17, 2025
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| Id | http://purl.obolibrary.org/obo/MONDO_0100546
http://purl.obolibrary.org/obo/MONDO_0100546
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|---|---|
| Preferred Name | hereditary neuromuscular disease |
| Definitions |
A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness. |
|---|---|
| preferred label |
hereditary neuromuscular disease
|
| label |
hereditary neuromuscular disease
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| prefLabel |
hereditary neuromuscular disease
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| IAO_0000233 | |
| notation |
MONDO:0100546
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| in_subset | |
| id |
MONDO:0100546
|
| creator | |
| subClassOf | |
| type |
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