| dbo:abstract |
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en) |
| dbo:medicalCause |
dbr:BICD2 |
| dbo:omim |
618291 (xsd:integer) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300 |
| dbo:wikiPageID |
65902066 (xsd:integer) |
| dbo:wikiPageLength |
2619 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1046803153 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:BICD2 dbr:Mutation dbc:Neurogenetic_disorders dbr:Arthrogryposis_multiplex_congenita dbc:Neuromuscular_disorders dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbr:Gene dbr:Contracture dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A dbr:Autosomal_dominant dbc:Rare_diseases dbr:Hypotonia dbc:Autosomal_dominant_disorders dbr:Spinal_muscular_atrophies |
| dbp:caption |
Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. (en) |
| dbp:causes |
Mutations in BICD2 gene (en) |
| dbp:diagnosis |
Molecular test (en) |
| dbp:duration |
Lifetime (en) |
| dbp:field |
Neurology (en) |
| dbp:onset |
Infancy (en) |
| dbp:prognosis |
Life limiting (en) |
| dbp:symptoms |
Generalised severe hypotonia at birth (en) |
| dbp:synonyms |
Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B (en) |
| dbp:wikiPageUsesTemplate |
dbt:Genetic-disorder-stub dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:CNS_diseases_of_the_nervous_system |
| dcterms:subject |
dbc:Neurogenetic_disorders dbc:Neuromuscular_disorders dbc:Systemic_atrophies_primarily_affecting_the_central_nervous_system dbc:Rare_diseases dbc:Autosomal_dominant_disorders |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en) |
| rdfs:label |
Spinal muscular atrophy with lower extremity predominance 2B (en) |
| owl:sameAs |
wikidata:Spinal muscular atrophy with lower extremity predominance 2B https://global.dbpedia.org/id/FTZiK |
| prov:wasDerivedFrom |
wikipedia-en:Spinal_muscular_atrophy_with_lower_ext...predominance_2B?oldid=1046803153&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B |
| is dbo:wikiPageDisambiguates of |
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance |
| is dbo:wikiPageRedirects of |
dbr:SMALED2B |
| is dbo:wikiPageWikiLink of |
dbr:BICD2 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1 dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A dbr:Spinal_muscular_atrophies dbr:SMALED2B |
| is foaf:primaryTopic of |
wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_2B |
