adisease

Showing entry for HHH syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD005976
Disease Name	HHH syndrome
Disease CUI Id	C0268540
MeSH Codes	C23 C16 C18 C10
Disease Class Name	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:0014667 DOID:630
Disease Ontology Class Name	disease of metabolism; 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
P04181	BXGT006165	Ornithine aminotransferase, mitochondrial	4942	reviewed	Enzyme
P31327	BXGT009523	Carbamoyl-phosphate synthase [ammonia], mitochondrial	1373	reviewed	Enzyme
P54886	BXGT011092	Delta-1-pyrroline-5-carboxylate synthase	5832	reviewed	Enzyme
Q13415	BXGT013350	Origin recognition complex subunit 1	4998	reviewed	Nucleic acid binding
Q8N8R3	BXGT018530	Mitochondrial basic amino acids transporter	123096	reviewed	Transporter
Q9BXI2	BXGT020168	Mitochondrial ornithine transporter 2	83884	reviewed	Transporter
Q9Y619	BXGT022316	Mitochondrial ornithine transporter 1	10166	reviewed	Transporter

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}