| Metadata | |
|---|---|
| ID | DOID:0090002 |
| Name | Tietz syndrome |
| Definition | A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. https://www.ncbi.nlm.nih.gov/pubmed/8589691, https://ghr.nlm.nih.gov/condition/tietz-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/13985019 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
albinism-deafness of Tietz [EXACT] hypopigmentation/deafness of Tietz [EXACT] Tietz albinism-deafness syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |