Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:11211
Name:Treft Sanborn Carey syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D001763|MESH:D006319|MESH:D009135|MESH:D009886|MESH:D009896
TreeNumbers:C05.651/C536544 |C09.218.458.341.887/C536544 |C10.292.562.750/C536544 |C10.292.700.225/C536544 |C10.597.350.090/C536544 |C10.597.622.447/C536544 |C10.597.751.418.341.887/C536544 |C10.668.491/C536544 |C11.338.204/C536544 |C11.590.472/C536544 |C11.640.451/C536544 |C2
Synonyms:Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy
Slim Mappings:Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536544
MeSH: C536544
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants