| ID | NIF_Dysfunction:birnlex_12542 |
|---|---|
| ID Space | NIF_Dysfunction |
| Name | Metachromatic Leukodystrophy |
| Ontology | birnlex_anatomy |
| Definition | An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate ( SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms (MeSH). |
| http://www.w3.org/2004/02/skos/core#definition | An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate ( SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms (MeSH). |
| http://www.w3.org/2004/02/skos/core#prefLabel | Metachromatic Leukodystrophy |
| 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 | D007966 |
| nif_obo_annot:createdDate | 2007-10-05 |
| nif_obo_annot:definingCitationURI | http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm |
| nif_obo_annot:hasExternalSource | http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH |
| nif_obo_annot:modifiedDate | 2007-10-05 |
| nif_obo_annot:synonym | Arylsulfatase A Deficiency Disease |
| nif_obo_annot:synonym | Cerebroside Sulphatase Deficiency Disease |
| nif_obo_annot:synonym | Greenfield's Disease |
| nif_obo_annot:synonym | Sulfatide Lipidosis |
| Synonym | Arylsulfatase A Deficiency Disease |
| Synonym | Cerebroside Sulphatase Deficiency Disease |
| Synonym | Greenfield's Disease |
| Synonym | Sulfatide Lipidosis |
| is_a | Hereditary Central Nervous System Demyelinating Diseases |
