Showing entry for Hypochondroplasia (disorder)



                               
General Disease Information
BXGD IdBXGD008431
Disease NameHypochondroplasia (disorder)
Disease CUI IdC0410529
MeSH Codes C16   C05   C19  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P02818 BXGT005969 Osteocalcin 632 reviewed
P05186 BXGT006338 Alkaline phosphatase, tissue-nonspecific isozyme 249 reviewed Enzyme
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
Q10471 BXGT013201 Polypeptide N-acetylgalactosaminyltransferase 2 2590 reviewed Enzyme
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
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