Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
Term ID:
6278
Name:
Leigh Disease
Definition:
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
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, t5.frequency_modifier , o.comment AS Onset_name
FROM hpo.external_object_disease AS t2, hpo.annotation AS t5
LEFT JOIN hpo.term AS t ON t.id = t5.term_id
LEFT JOIN hpo.annotation_onset_modifier AS o ON o.annotation_id =t5.annotation_id
WHERE t2.disease_id = '256000' AND t2.db_name='OMIM'
AND t5.external_object_disease_id = t2.external_object_id
ORDER BY HPO_Name like '%Auto%' DESC, HPO_Name like '%linked%' DESC, HPO_Name like '%onset%' DESC, HPO_Name, disease_title, t.name;
Leigh Disease 
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