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疾病ID:TCMBANKDI016579


疾病名:Lethal skeletal dysplasia


MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases


HPO_Name:Abnormality of the skeletal system


UMLS_Name:Anatomical Abnormality


DO_Name:-


疾病类型:disease


DisGeNET_Link:C4021626


MeSH_Link:C16; C05


HPO_Link:HP:0000924


UMLS_Link:T190


DO_Link:-


HERB_ID:-


   疾病对应的植物
ID 拉丁名 药名 药用植物名 功能与主治 来源 药用部位 使用民族

   疾病对应的化合物
化合物ID 化合物名 别名 分子式 分子质量 Smiles

   疾病对应的靶点
靶点ID 基因名 基因别名 描述
TCMBANKGE011269 ACVR1 ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1; TSRI activin A receptor type 1
TCMBANKGE002531 DYNC2H1 ATD3; DHC1b; DHC2; DNCH2; DYH1B; SRPS2B; SRTD3; hdhc11 dynein cytoplasmic 2 heavy chain 1
TCMBANKGE004881 SLC26A2 D5S1708; DTD; DTDST; EDM4; MST153; MSTP157 solute carrier family 26 member 2
TCMBANKGE006700 B4GALT7 EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT; XGPT1 beta-1,4-galactosyltransferase 7
TCMBANKGE011060 PTH1R EKNS; PFE; PTHR; PTHR1 parathyroid hormone 1 receptor
TCMBANKGE003579 IFT80 ATD2; FAP167; SRTD2; WDR56 intraflagellar transport 80
TCMBANKGE000160 COL2A1 ANFH; AOM; COL11A3; SEDC; STL1 collagen type II alpha 1 chain
TCMBANKGE006691 FGFR3 ACH; CD333; CEK2; HSFGFR3EX; JTK4 fibroblast growth factor receptor 3
TCMBANKGE008826 LBR C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18 lamin B receptor
TCMBANKGE001255 ALG9 CDG1L; DIBD1; GIKANIS; LOH11CR1J ALG9 alpha-1,2-mannosyltransferase
TCMBANKGE012769 TRIP11 ACG1A; CEV14; GMAP-210; GMAP210; ODCD; TRIP-11; TRIP230 thyroid hormone receptor interactor 11
TCMBANKGE010687 DYNC2I2 CFAP133; DIC5; FAP133; SRTD11; WDR34; bA216B9.3 dynein 2 intermediate chain 2