adisease

Showing entry for Multiple pterygium syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD005489
Disease Name	Multiple pterygium syndrome
Disease CUI Id	C0265261
MeSH Codes	C23 C16 C17
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630 DOID:225
Disease Ontology Class Name	genetic disease; syndrome
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P22303	BXGT008751	Acetylcholinesterase	43	reviewed	Enzyme
Q04446	BXGT012764	1,4-alpha-glucan-branching enzyme	2632	reviewed	Enzyme
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}