adisease

Showing entry for Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD017238
Disease Name	Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disease CUI Id	C2674173
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
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
P19174	BXGT008467	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	5335	reviewed	Enzyme
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P49023	BXGT010672	Paxillin	5829	reviewed	Cellular structure

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}