loading...| Preferred Name |
Neurocognitive Disorders |
|
| Synonyms |
|
|
| Definitions |
"disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired." |
|
| ID |
http://www.bioontology.org/pma.owl#PMA_1066 |
|
| code |
1990 |
|
| definition |
"disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired." |
|
| definition_source |
CSP2005 |
|
| label |
Neurocognitive Disorders |
|
| prefixIRI |
PMA_1066 |
|
| prefLabel |
Neurocognitive Disorders |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.jp/bio/4/id/201606016089269372 | IOBC | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D019965 | MESH | LOOM | |
| http://purl.obolibrary.org/obo/OMIT_0019925 | OMIT | LOOM |