| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia."xsd:string |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/36 |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/613435 |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000690 |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D057180 |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3150692 |
| http://purl.uniprot.org/diseases/2705 | http://www.w3.org/2004/02/skos/core#prefLabel | "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"xsd:string |
| http://purl.uniprot.org/diseases/2705 | http://purl.uniprot.org/core/mnemonic | "ALS12"xsd:string |
| http://purl.uniprot.org/uniprot/Q96CV9#SIPFB6C9DB5466CE5F8 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2705 |
| http://purl.uniprot.org/annotation/VAR_063597 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2705 |
| http://purl.uniprot.org/annotation/VAR_078108 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2705 |
| http://purl.uniprot.org/uniprot/#_BDFC6C814CBE91E9_up.disease_6133CDB7862D514D | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2705 |