Albinism, Ocular, with Late-Onset Sensorineural Deafness (OASD)

Albinism, Ocular, with Late-Onset Sensorineural Deafness(来自ICD-11)
别称:
Ocular Albinism with Late-Onset Sensorineural Deafness
Ocular Albinism with Sensorineural Deafness
Ocular Albinism with Late-Onset Sensorineural Hearing Loss
Albinism, Ocular, with Sensorineural Deafness
Autosomal Recessive Waardenburg Syndrome Type 2 with Ocular Albinism
Albinism Ocular Late Onset Sensorineural Deafness
Waardenburg Syndrome/ocular Albinism, Digenic
Digenic Waardenburg Syndrome/ocular Albinism
Ocular Albinism and Sensorineural Deafness
Waardenburg Syndrome/albinism, Digenic
Digenic Waardenburg Syndrome/albinism
Deafness and Ocular Albinism
Ws2-Oa
Oasd
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Albinism, Ocular, with Late-Onset Sensorineural Deafness, also known as ocular albinism with late-onset sensorineural deafness, is related to albinism and albinism, ocular, type i. An important gene associated with Albinism, Ocular, with Late-Onset Sensorineural Deafness is TYR (Tyrosinase), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. Affiliated tissues include eye, and related phenotypes are nystagmus and sensorineural hearing impairment
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MALACARDS
XL
XLD
Adult
<1/1000000
15
300
2

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