adisease

General Disease Information
BXGD Id	BXGD004336
Disease Name	Cartilage-hair hypoplasia
Disease CUI Id	C0220748
MeSH Codes	C16 C06 C05 C20
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
Semantic Type	Disease or Syndrome; 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
O43597	BXGT004602	Protein sprouty homolog 2	10253	reviewed	Signaling
O75817	BXGT005153	Ribonuclease P protein subunit p20	10248	reviewed	Enzyme
O95631	BXGT005387	Netrin-1	9423	reviewed	Enzyme modulator
P01148	BXGT005739	Progonadoliberin-1	2796	reviewed
P01215	BXGT005743	Glycoprotein hormones alpha chain	1081	reviewed
P02751	BXGT005943	Fibronectin	2335	reviewed	Signaling
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P08235	BXGT006751	Mineralocorticoid receptor	4306	reviewed	Nuclear receptor
P08684	BXGT006812	Cytochrome P450 3A4	1576	reviewed	Enzyme
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P15531	BXGT008136	Nucleoside diphosphate kinase A	4830	reviewed	Kinase
P33527	BXGT009728	Multidrug resistance-associated protein 1	4363	reviewed	Transporter
Q15125	BXGT013543	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	10682	reviewed	Enzyme
Q15796	BXGT013599	Mothers against decapentaplegic homolog 2	4087	reviewed	Transcription factor
Q16828	BXGT013676	Dual specificity protein phosphatase 6	1848	reviewed
Q6WRI0	BXGT016596	Immunoglobulin superfamily member 10	285313	reviewed
Q86Z14	BXGT017639	Beta-klotho	152831	reviewed	Enzyme
Q9BUL9	BXGT020136	Ribonuclease P protein subunit p25	54913	reviewed	Enzyme
Q9UHF0	BXGT021699	Tachykinin-3	6866	reviewed
P20809	BXGT025043	Interleukin-11	3589	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}