Tietz syndrome
(Q7801152)
monogenic disease 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
monogenic disease 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
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Current Data About
Tietz syndrome
| (P31) |
(Q55789477)
(Q55788864)
(Q929833) (Q112193867) |
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| (P279) |
(Q55788734)
(Q55789271)
(Q1047860)
(Q18553439)
(Q179630)
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| (P1692) |
270.2
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| (P1889) |
(Q175763)
|
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| (P1995) |
(Q123028)
|
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| (P2293) |
(Q14906495)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0090002
http://identifiers.org/doid/DOID:0090002
http://www.orpha.net/ORDO/Orphanet_42665 |
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| (P5008) |
(Q4099686)
|
other details
| aliases |
albinism-deafness of Tietz Tietz albinism-deafness syndrome hypopigmentation/deafness of Tietz TIETZ SYNDROME Hypopigmentation-deafness syndrome |
| description | monogenic disease 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 |
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