Showing entry for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects



                               
General Disease Information
BXGD IdBXGD005492
Disease NameCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Disease CUI IdC0265267
MeSH Codes C16   C17   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id   
Disease Ontology Class Name
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
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
P37268 BXGT009975 Squalene synthase 2222 reviewed
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 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