Rare diseases
32 entries in the Rare Diseases compendium.
3-Hydroxy-3-methylglutaryl-CoA lyase deficiencyRare genetic disorder impairing ketone body production and leucine breakdown.7q11.23 duplication syndromeA rare genetic syndrome from duplication of chromosome 7q11.23.15q overgrowth syndromeRare genetic syndrome with overgrowth and facial dysmorphism.AA amyloidosisA form of amyloidosis from serum amyloid A protein deposition.Abdominal epilepsyRare condition linking gastrointestinal symptoms to epileptic seizures.AbetalipoproteinemiaRare genetic disorder impairing fat and vitamin absorption.Absent pulmonary valve syndromeA rare congenital heart defect with a challenging prognosis.AcheiropodiaA rare genetic condition causing absent hands and feet.AchromatopsiaA congenital syndrome causing monochromacy and light sensitivity.Acral myxoinflammatory fibroblastic sarcomaRare low-grade soft tissue tumor with frequent local recurrence.AcrocephalosyndactylyCongenital conditions with skull and digit abnormalities.Acute disseminated encephalomyelitisRare autoimmune demyelinating disease often triggered by infection.Acute eosinophilic pneumoniaAcute eosinophilic pneumonia is a rare, acute-onset eosinophilic lung disease.Acute idiopathic blind spot enlargement syndromeRare eye disease with blind spot enlargement and no known cure.Adenosine deaminase deficiencyA metabolic disorder causing severe combined immunodeficiency.Adenosine monophosphate deaminase deficiency type 1A metabolic disorder impairing energy conversion in muscles.Adenylosuccinate lyase deficiencyRare metabolic disorder causing neurological symptoms from purine biosynthesis defect.AdermatoglyphiaA rare genetic disorder causing absence of fingerprints.AdipsiaA rare disorder of absent thirst due to hypothalamic or other dysfunction.AdrenoleukodystrophyX-linked disorder of fatty acid metabolism affecting brain, adrenals, and testes.Adult polyglucosan body diseaseRare genetic disorder causing nerve damage from abnormal glycogen buildup.Aggressive fibromatosisRare, locally invasive tumors with unpredictable clinical behavior.Aldolase A deficiencyA rare metabolic disorder causing hemolytic anemia and myopathy.AlkaptonuriaRare genetic disorder causing dark urine and joint damage.Alopecia universalisLoss of all body hair with no other symptoms.Alpha-aminoadipic and alpha-ketoadipic aciduriaRare metabolic disorder from a block in converting 2-oxoadipate to glutaryl-CoA during lysAlpha-mannosidosisA progressive lysosomal storage disorder from enzyme deficiency.ALSRare neurodegenerative disease causing progressive motor neuron loss.Alveolar capillary dysplasiaRare congenital lung disease causing fatal respiratory failure in newborns.Anomalous aortic origin of a coronary arteryRare congenital heart defect linked to sudden death in children.Antithrombin III deficiencyA rare clotting disorder causing recurrent venous thrombosis and pulmonary embolism.Antley–Bixler syndromeRare autosomal recessive disorder with skeletal and other malformations.
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