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Synonyms |
Description |
Articles |
Phenotypes |
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17-beta hydroxysteroid dehydrogenase 3 deficiency
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17-beta-hydroxysteroid dehydrogenase 3 deficiency;..
[+]17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 17-KSR deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; male pseudohermaphroditism with gynecomastia; neutral 17-beta-hydroxysteroid oxidoreductase deficiency;
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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.
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2-aminoadipic 2-oxoadipic aciduria
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alpha-aminoadipic aciduria; AMOXAD;
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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.
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2-hydroxyglutaric aciduria
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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.
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency
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3-hydroxy-3-methylglutaryl-coenzyme A lyase defici..
[+]3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency; HL deficiency; HMG-CoA lyase deficiency; HMGCL deficiency; HMGCLD; hydroxymethylglutaric aciduria;
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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.
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3-hydroxyisobutryl-CoA hydrolase deficiency
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HIBCH deficiency; Methacrylic aciduria; Valine met..
[+]HIBCH deficiency; Methacrylic aciduria; Valine metabolic defect;
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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.
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3MC syndrome
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oculopalatoskeletal syndrome ; craniofacial-ulnar-..
[+]oculopalatoskeletal syndrome ; craniofacial-ulnar-renal syndrome;
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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.
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3MC syndrome 1
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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.
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3MC syndrome 2
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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.
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3MC syndrome 3
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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.
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3-methylcrotonyl-CoA carboxylase 1 deficiency
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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.
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3-methylcrotonyl-CoA carboxylase 2 deficiency
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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.
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3-methylcrotonyl-CoA carboxylase deficiency
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3MCC deficiency; BMCC deficiency; 3-Methylcrotonyl..
[+]3MCC deficiency; BMCC deficiency; 3-Methylcrotonylglycinuria;
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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.
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3-methylglutaconic aciduria
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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.
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3-methylglutaconic aciduria type 1
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3MG-CoA hydratase deficiency; 3-methylglutaconic a..
[+]3MG-CoA hydratase deficiency; 3-methylglutaconic aciduria type I; MGA type I; MGA1; 3-methylglutaconyl-CoA hydratase deficiency;
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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.
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3-methylglutaconic aciduria type 3
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3-methylglutaconic aciduria type III; autosomal re..
[+]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; autosomal recessive optic atrophy type 3;
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A 3-methylglutaconic aciduria that has_material_ba.. [+]A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.
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3-methylglutaconic aciduria type 4
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MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu..
[+]MGA type IV; MGA4; MGCA4; 3-methylglutaconic aciduria type IV;
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A 3-methylglutaconic aciduria that is characterize.. [+]A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.
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3-methylglutaconic aciduria type 5
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3-methylglutaconic aciduria type V; DCMA syndrome;..
[+]3-methylglutaconic aciduria type V; DCMA syndrome; MGA5; MGCA5; DCMA; dilated cardiomyopathy with ataxia;
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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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3-methylglutaconic aciduria type 7a
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A 3-methylglutaconic aciduria that is characterize.. [+]A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.
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3-methylglutaconic aciduria type 7b
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A 3-methylglutaconic aciduria that has_material_ba.. [+]A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.
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3-methylglutaconic aciduria type 8
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3-methylglutaconic aciduria type VIII, MGCA8;
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A 3-methylglutaconic aciduria that has_material_ba.. [+]A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.
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