loading...| Preferred Name |
Leigh disease |
| Synonyms |
Infantile necrotizing encephalomyelopathy |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| ID |
http://purl.obolibrary.org/obo/DOID_3652 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:G31.82 ORDO:506 MESH:D007888 OMIM:256000 UMLS_CUI:C0023264 SNOMEDCT_US_2022_09_01:29570005 NCI:C84814 GARD:6877 |
| definition |
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| has exact synonym |
Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy |
| has symptom |
http://purl.obolibrary.org/obo/SYMP_0000654 http://purl.obolibrary.org/obo/SYMP_0000124 |
| has_obo_namespace |
disease_ontology |
| has_related_synonym |
subacute necrotizing encephalomyelopathy |
| id |
DOID:3652 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Leigh disease |
| notation |
DOID:3652 |
| prefLabel |
Leigh disease |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D007888 | Medical Subject Headings | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84814 | National Cancer Institute Thesaurus | LOOM |