脊柱干骺发育不良症
Spondylodysplastic dysplasia
ORPHA:93434疾病组
相关基因 15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 |
|---|---|---|
| BMPER | BMP binding endothelial regulator | ORPHA:66637 |
| BMPR1B | bone morphogenetic protein receptor type 1B | ORPHA:2098 |
| COL2A1 | collagen type II alpha 1 chain | ORPHA:85166 |
| EXTL3 | exostosin like glycosyltransferase 3 | ORPHA:508533 |
| FLNB | filamin B | ORPHA:3275 |
| GDF5 | growth differentiation factor 5 | ORPHA:2098 |
| GPX4 | glutathione peroxidase 4 | ORPHA:93317 |
| INPPL1 | inositol polyphosphate phosphatase like 1 | ORPHA:2746 |
| MYH3 | myosin heavy chain 3 | ORPHA:3275 |
| PAM16 | presequence translocase associated motor 16 | ORPHA:401979 |
| PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | ORPHA:448242 |
| SLC26A2 | solute carrier family 26 member 2 | ORPHA:93298 |
| SLC35D1 | solute carrier family 35 member D1 | ORPHA:3144 |
| TRIP11 | thyroid hormone receptor interactor 11 | ORPHA:93299 |
| TRPV4 | transient receptor potential cation channel subfamily V member 4 | ORPHA:93304 |
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）