Hearing Loss Disease Portal


 
 Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Could not execute query 3
SELECT DISTINCT t2.disease_id, t2.disease_title, t.id AS HPO_ID1, t.acc as HPO_ID, t.name as HPO_Name , 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 = 'C564021' 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;
Term ID:6280
Name:Leigh Syndrome Due To Mitochondrial Complex I Deficiency
Definition:
Alternative IDs:
ParentIDs:MESH:D007888
TreeNumbers:C10.228.140.163.100.412/C564021 |C16.320.565.189.412/C564021 |C16.320.565.202.810.444/C564021 |C18.452.132.100.412/C564021 |C18.452.648.189.412/C564021 |C18.452.648.202.810.444/C564021 |C18.452.660.520/C564021
Synonyms:Atpase Deficiency, Nuclear-Encoded
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C564021
MeSH: C564021
OMIM:

Genes: