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疾病ID:TCMBANKDI009106
疾病名:MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MeSH_Name:Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:genetic disease; syndrome
疾病类型:disease
DisGeNET_Link:C1854678
MeSH_Link:C23; C16; C17
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:630; DOID:225
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 |
|---|
| TCMBANKGE013324 | GBE1 | APBD; GBE; GSD4 | 1,4-alpha-glucan branching enzyme 1 |
| TCMBANKGE002337 | TPM2 | AMCD1; DA1; DA2B; DA2B4; HEL-S-273; NEM4; TMSB | tropomyosin 2 |
| TCMBANKGE000984 | RYR1 | CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR | ryanodine receptor 1 |
| TCMBANKGE010487 | CHRNA1 | ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS | cholinergic receptor nicotinic alpha 1 subunit |
| TCMBANKGE010862 | CHRND | ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS | cholinergic receptor nicotinic delta subunit |
| TCMBANKGE009953 | NEB | NEB177D; NEM2 | nebulin |
| TCMBANKGE011530 | RAPSN | CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205 | receptor associated protein of the synapse |
| TCMBANKGE014586 | CHRNG | ACHRG | cholinergic receptor nicotinic gamma subunit |
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Dai SX Lab