Additional Disease Briefs

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adenine phosphoribosyltransferase deficiency

Also known as: 2,8-dihydroxyadenine urolithiasis, 2,8-dihydroxyadeninuria disease, APRT deficiency, APRTD, Dihydroxyadeninuria, adenine phosphoribosyltransferase deficiency, nephrolithiasis, Dha, urolithiasis, 2,8-dihydroxyadenine, urolithiasis, Dha



adenohypophysitis

Also known as: adenohypophysis inflammation, anterior pituitary hypophysitis, inflammation of adenohypophysis, lymphocytic adenohypophysitis


adenoid cystic carcinoma

Also known as: adenocystic carcinoma, adenoid cystic cancer, adenoid cystic carcinoma, cribriform carcinoma, cylindroid adenocarcinoma, cylindroma



adenosine kinase deficiency

Also known as: ADK deficiency, ADK hypermethioninemia, MRT8, adenosine kinase deficiency, autosomal recessive intellectual disability 8, autosomal recessive mental retardation 8, hypermethioninemia due to adenosine kinase deficiency, hypermethioninemia encephalopathy due to ADK deficiency, hypermethioninemia encephalopathy due to adenosine kinase deficiency, mental retardation, autosomal recessive 8, mental retardation, autosomal recessive 8, formerly, mental retardation, autosomal recessive 8; MRT8


adenosine triphosphatase deficiency, anemia due to

Also known as: adenosine triphosphatase deficiency anaemia, adenosine triphosphatase deficiency anemia, adenosine triphosphatase deficiency, anemia due to, anaemia due to adenosine triphosphatase deficiency, anemia due to adenosine triphosphatase deficiency


adenylosuccinate lyase deficiency

Also known as: ADSL deficiency, ADSLD, Adsl deficiency, adenylosuccinase deficiency, adenylosuccinase lyase deficiency, adenylosuccinate lyase deficiency, inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder, inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity, rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity