骨发育不全
Dysostosis
ORPHA:364559疾病组
相关基因 60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 |
|---|---|---|
| ALX1 | ALX homeobox 1 | ORPHA:306542 |
| ALX3 | ALX homeobox 3 | ORPHA:391474 |
| ALX4 | ALX homeobox 4 | ORPHA:228390 |
| ARHGAP31 | Rho GTPase activating protein 31 | ORPHA:974 |
| BMPR1B | bone morphogenetic protein receptor type 1B | ORPHA:2639 |
| C2CD3 | C2 domain containing 3 centriole elongation regulator | ORPHA:434179 |
| CDH3 | cadherin 3 | ORPHA:1897 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | ORPHA:2754 |
| CREBBP | CREB binding lysine acetyltransferase | ORPHA:353277 |
| CTNNB1 | catenin beta 1 | ORPHA:952 |
| DDX59 | DEAD-box helicase 59 | ORPHA:2919 |
| DHODH | dihydroorotate dehydrogenase (quinone) | ORPHA:246 |
| DLL3 | delta like canonical Notch ligand 3 | ORPHA:2311 |
| DLL4 | delta like canonical Notch ligand 4 | ORPHA:974 |
| DLX5 | distal-less homeobox 5 | ORPHA:71271 |
| DLX6 | distal-less homeobox 6 | ORPHA:2440 |
| DOCK6 | dedicator of cytokinesis 6 | ORPHA:974 |
| EDNRA | endothelin receptor type A | ORPHA:443995 |
| EFTUD2 | elongation factor Tu GTP binding domain containing 2 | ORPHA:79113 |
| EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | ORPHA:974 |
| EP300 | EP300 lysine acetyltransferase | ORPHA:353284 |
| EPS15L1 | epidermal growth factor receptor pathway substrate 15 like 1 | ORPHA:2440 |
| EVC | EvC ciliary complex subunit 1 | ORPHA:952 |
| EVC2 | EvC ciliary complex subunit 2 | ORPHA:952 |
| FAM149B1 | family with sequence similarity 149 member B1 | ORPHA:2754 |
| FGF9 | fibroblast growth factor 9 | ORPHA:3237 |
| FGFR1 | fibroblast growth factor receptor 1 | ORPHA:3366 |
| FREM1 | FRAS1 related extracellular matrix 1 | ORPHA:3366 |
| FUZ | fuzzy planar cell polarity protein | ORPHA:620158 |
| GDF5 | growth differentiation factor 5 | ORPHA:2639 |
| GDF6 | growth differentiation factor 6 | ORPHA:3237 |
| GLI2 | GLI family zinc finger 2 | ORPHA:420584 |
| GLI3 | GLI family zinc finger 3 | ORPHA:93322 |
| HES7 | hes family bHLH transcription factor 7 | ORPHA:2311 |
| HOXA11 | homeobox A11 | ORPHA:71289 |
| HOXA13 | homeobox A13 | ORPHA:2438 |
| KAT6B | lysine acetyltransferase 6B | ORPHA:85201 |
| KIAA0753 | KIAA0753 | ORPHA:2754 |
| KIF7 | kinesin family member 7 | ORPHA:2754 |
| LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | ORPHA:2311 |
| LMBR1 | limb development membrane protein 1 | ORPHA:988 |
| LMNA | lamin A/C | ORPHA:168796 |
| LMX1B | LIM homeobox transcription factor 1 beta | ORPHA:2614 |
| MAP3K20 | mitogen-activated protein kinase kinase kinase 20 | ORPHA:488232 |
| MECOM | MDS1 and EVI1 complex locus | ORPHA:71289 |
| MESP2 | mesoderm posterior bHLH transcription factor 2 | ORPHA:2311 |
| MNX1 | motor neuron and pancreas homeobox 1 | ORPHA:1552 |
| MYH8 | myosin heavy chain 8 | ORPHA:319340 |
| MYSM1 | Myb like, SWIRM and MPN domains 1 | ORPHA:508542 |
| NEK1 | NIMA related kinase 1 | ORPHA:2751 |
| NOG | noggin | ORPHA:3237 |
| NOTCH1 | notch receptor 1 | ORPHA:974 |
| OFD1 | OFD1 centriole and centriolar satellite protein | ORPHA:2754 |
| PDE3A | phosphodiesterase 3A | ORPHA:1276 |
| PDE4D | phosphodiesterase 4D | ORPHA:950 |
| PDE6D | phosphodiesterase 6D | ORPHA:2754 |
| POLR1B | RNA polymerase I subunit B | ORPHA:861 |
| POLR1C | RNA polymerase I and III subunit C | ORPHA:861 |
| POLR1D | RNA polymerase I and III subunit D | ORPHA:861 |
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | ORPHA:950 |
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）