口下颌-肢体畸形综合征
Oromandibular-limb anomalies syndrome
ORPHA:156215疾病组
相关基因 14来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| C2CD3 | C2 domain containing 3 centriole elongation regulator | ORPHA:434179 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | ORPHA:2754 |
| DDX59 | DEAD-box helicase 59 | ORPHA:2919 |
| FAM149B1 | family with sequence similarity 149 member B1 | ORPHA:2754 |
| KIAA0753 | KIAA0753 | ORPHA:2754 |
| KIF7 | kinesin family member 7 | ORPHA:2754 |
| NEK1 | NIMA related kinase 1 | ORPHA:2751 |
| OFD1 | OFD1 centriole and centriolar satellite protein | ORPHA:2754 |
| PDE6D | phosphodiesterase 6D | ORPHA:2754 |
| TBC1D32 | TBC1 domain family member 32 | ORPHA:141007 |
| TCTN3 | tectonic family member 3 | ORPHA:2753 |
| TMEM216 | transmembrane protein 216 | ORPHA:2754 |
| TMEM231 | transmembrane protein 231 | ORPHA:2754 |
| TOPORS | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | ORPHA:2754 |
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）