Rare Diseases Codexery
A source-cited reference to rare diseases
Rare diseases
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency · 7q11.23 duplication syndrome · 15q overgrowth syndrome · AA amyloidosis · Abdominal epilepsy · Abetalipoproteinemia · Absent pulmonary valve syndrome · Acheiropodia · Achromatopsia · Acral myxoinflammatory fibroblastic sarcoma · Acrocephalosyndactyly · Acute disseminated encephalomyelitis · Acute eosinophilic pneumonia · Acute idiopathic blind spot enlargement syndrome · Adenosine deaminase deficiency · Adenosine monophosphate deaminase deficiency type 1 · Adenylosuccinate lyase deficiency · Adermatoglyphia · Adipsia · Adrenoleukodystrophy · Adult polyglucosan body disease · Aggressive fibromatosis · Aldolase A deficiency · Alkaptonuria · all 45 →