| ID | NIF_Dysfunction:birnlex_12568 |
|---|---|
| ID Space | NIF_Dysfunction |
| Name | Spinal Muscular Atrophy |
| Ontology | birnlex_anatomy |
| Definition | A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource |
| http://www.w3.org/2004/02/skos/core#definition | A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary (MeSH). |
| http://www.w3.org/2004/02/skos/core#prefLabel | Spinal Muscular Atrophy |
| nif_annot:hasBirnlexCurator | http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug |
| nif_annot:hasCurationStatus | http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated |
| nif_annot:putativeClassExtension | Adult Spinal Muscular Atrophy |
| nif_annot:putativeClassExtension | Distal Spinal Muscular Atrophy |
| nif_annot:putativeClassExtension | Oculopharyngeal Spinal Muscular Atrophy |
| nif_annot:putativeClassExtension | Progressive Proximal Myelopathic Muscular Atrophy |
| nif_annot:putativeClassExtension | Scapuloperoneal Form of Spinal Muscular Atrophy |
| nif_obo_annot:MeshUid | D009134 |
| nif_obo_annot:acronym | SMA |
| nif_obo_annot:createdDate | 2007-10-05 |
| nif_obo_annot:definingCitation | Adams et al., Principles of Neurology, 6th ed, p1089 |
| nif_obo_annot:definingCitationURI | http://www.ninds.nih.gov/disorders/sma/sma.htm |
| nif_obo_annot:hasDefinitionSource | http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource |
| nif_obo_annot:hasExternalSource | http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH |
| nif_obo_annot:modifiedDate | April 11, 2009 |
| nif_obo_annot:nifID | _8.3_2.5.2 |
| nif_obo_annot:synonym | Bulbospinal Neuronopathy |
| nif_obo_annot:synonym | Kennedy Syndrome |
| nif_obo_annot:synonym | Kennedy's Syndrome |
| nif_obo_annot:synonym | Progressive Myelopathic Muscular Atrophy |
| Synonym | Bulbospinal Neuronopathy |
| Synonym | Kennedy Syndrome |
| Synonym | Kennedy's Syndrome |
| Synonym | Progressive Myelopathic Muscular Atrophy |
| is_a | Motor Neuron Disease |
