Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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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 = '220111' 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:6285
Name:Leigh syndrome , French Canadian type
Definition:
Alternative IDs:OMIM:220111
ParentIDs:MESH:D007888|MESH:D030401
TreeNumbers:C10.228.140.163.100.412/C537004 |C16.320.565.189.412/C537004 |C16.320.565.202.810.444/C537004 |C16.320.565.240/C537004 |C18.452.132.100.412/C537004 |C18.452.648.189.412/C537004 |C18.452.648.202.810.444/C537004 |C18.452.660.195/C537004 |C18.452.660.520/C537004
Synonyms:Cox deficiency, French Canadian type |Cox Deficiency, French-Canadian Type |Cox deficiency, Saguenay Lac saint Jean type |Cox Deficiency, Saguenay-Lac Saint-Jean Type |COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE |Cytochrome c oxidase deficiency, French Canad
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C537004
MeSH: C537004
OMIM: 220111;

Genes: LRPPRC;