Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
ORPHA:664511疾病亚型暂无中文名
别名
Early-onset severe Hermansky-Pudlak syndrome with deafness、Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency、Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency、HPS10、Hermansky-Pudlak syndrome type 10
基本事实
- 遗传方式
- 常染色体隐性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AP3D1 | adaptor related protein complex 3 subunit delta 1 | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）