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Disease	Synonyms	Description
1,4-phenylenediamine allergic contact dermatitis	allergic contact dermatitis to p-phenylenediamine;.. [+] allergic contact dermatitis to p-phenylenediamine; allergic contact dermatitis to PPD; [-]	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. [-]
17-beta hydroxysteroid dehydrogenase 3 deficiency	17-beta-hydroxysteroid dehydrogenase 3 deficiency;.. [+] 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 17-KSR deficiency; male pseudohermaphroditism with gynecomastia; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; neutral 17-beta-hydroxysteroid oxidoreductase deficiency; [-]	A pseudohermaphroditism characterized by undermasc..[+] A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. [-]
1-chloro-2,4-dinitrobenzene allergic contact dermatitis	allergic contact dermatitis to dinitrochlorobenzen.. [+] allergic contact dermatitis to dinitrochlorobenzene; allergic contact dermatitis to DNCB; [-]	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. [-]
2,4-dinitrophenyl allergic contact dermatitis	allergic contact dermatitis to DNP;	An allergic contact dermatitis that has_allergic_t..[+] An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. [-]
2-aminoadipic 2-oxoadipic aciduria	alpha-aminoadipic aciduria; AMOXAD;	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. [-]
2-hydroxyglutaric aciduria		An amino acid metabolic disorder that is an autoso..[+] An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. [-]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency	HL deficiency; HMG-CoA lyase deficiency; HMGCL def.. [+] HL deficiency; HMG-CoA lyase deficiency; HMGCL deficiency; HMGCLD; hydroxymethylglutaric aciduria; 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency; [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. [-]
3-hydroxyisobutryl-CoA hydrolase deficiency	Valine metabolic defect; HIBCH deficiency; Methacr.. [+] Valine metabolic defect; HIBCH deficiency; Methacrylic aciduria; [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. [-]
3MC syndrome	oculopalatoskeletal syndrome ; craniofacial-ulnar-.. [+] oculopalatoskeletal syndrome ; craniofacial-ulnar-renal syndrome; oculopalatoskeletal syndrome; [-]	A syndrome characterized by blepharophimosis, blep..[+] A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [-]
3MC syndrome 1		A 3MC syndrome that has_material_basis_in autosoma..[+] A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. [-]
3MC syndrome 2		A 3MC syndrome that has_material_basis_in autosoma..[+] A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. [-]
3MC syndrome 3		A 3MC syndrome that has_material_basis_in a compou..[+] A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. [-]
3-methylcrotonyl-CoA carboxylase 1 deficiency		A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+] A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. [-]
3-methylcrotonyl-CoA carboxylase 2 deficiency		A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+] A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. [-]
3-methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC .. [+] 3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency; [-]	An amino acid metabolic disorder that is classifie..[+] An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. [-]
3-methylglutaconic aciduria		An organic acidemia that is characterized by eleva..[+] An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. [-]
3-methylglutaconic aciduria type 1	3MG-CoA hydratase deficiency; 3-methylglutaconic a.. [+] 3MG-CoA hydratase deficiency; 3-methylglutaconic aciduria type I; 3-methylglutaconyl-CoA hydratase deficiency; MGA type I; MGA1; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. [-]
3-methylglutaconic aciduria type 3	autosomal recessive optic atrophy type 3; 3-methyl.. [+] autosomal recessive optic atrophy type 3; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria type IV; MGA type IV; .. [+] 3-methylglutaconic aciduria type IV; MGA type IV; MGA4; MGCA4; [-]	A 3-methylglutaconic aciduria that is characterize..[+] A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. [-]
3-methylglutaconic aciduria type 5	DCMA syndrome; DCMA; dilated cardiomyopathy with a.. [+] DCMA syndrome; DCMA; dilated cardiomyopathy with ataxia; 3-methylglutaconic aciduria type V; MGA5; MGCA5; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. [-]

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