| ID | NIF_Dysfunction:birnlex_12570 |
|---|---|
| ID Space | NIF_Dysfunction |
| Name | Type I Spinal Muscular Atrophy |
| Ontology | birnlex_anatomy |
| Definition | . http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource |
| http://www.w3.org/2004/02/skos/core#prefLabel | Type I Spinal Muscular Atrophy |
| http://www.w3.org/2004/02/skos/core#scopeNote | Additional MeSH entry terms imply there are subtypes based on the location of the motor neuron degeneration - e.g.: Proximal Hereditary Motor Neuropathy (HMN) Type I |
| 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_obo_annot:MeshUid | D014897 |
| nif_obo_annot:abbrev | HMN Proximal Type I |
| nif_obo_annot:acronym | WHD |
| nif_obo_annot:createdDate | 2007-10-05 |
| nif_obo_annot:definingCitation | J Med Genet 1996 Apr:33(4):281-3 |
| 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 | 2007-11-18 |
| nif_obo_annot:synonym | Hereditary Motor Neuropathy Proximal Type I |
| nif_obo_annot:synonym | Infantile Spinal Muscular Atrophy |
| nif_obo_annot:synonym | Werdnig-Hoffmann Disease |
| nif_obo_annot:usageNote | Type I is fatal in infancy (MeSH). |
| Synonym | HMN Proximal Type I |
| Synonym | Hereditary Motor Neuropathy Proximal Type I |
| Synonym | Infantile Spinal Muscular Atrophy |
| Synonym | Werdnig-Hoffmann Disease |
| is_a | Spinal Muscular Atrophies of Childhood |
