loading...| Preferred Name |
Leigh Disease |
|
| Synonyms |
|
|
| Definitions |
An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C84814 |
|
| code |
C84814 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| definition |
An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
| label |
Leigh Disease |
|
| Preferred_Name |
Leigh Disease |
|
| prefixIRI |
NCIT:C84814 |
|
| prefLabel |
Leigh Disease |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C4229116 |
|
| subClassOf |