Arterial Tortuosity Syndrome
Arterial tortuosity syndrome (ATS) is an extremely rare genetic congenital connective tissue disorder characterized by lengthening (elongation) and twisting or distortion (tortuosity) of major ...
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Arterial tortuosity syndrome (ATS) is an extremely rare genetic congenital connective tissue disorder characterized by lengthening (elongation) and twisting or distortion (tortuosity) of major ...
Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, ...
Argininosuccinic aciduria is a rare genetic disorder characterized by the deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one of six enzymes that play a role in the ...
Glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine metabolism which interrupt the ...
Arginase-1 deficiency is a rare inherited autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation characterized by a complete or partial lack of the enzyme arginase ...
Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal) majority of arachnoid cysts are in the anterior/middle ...
Apraxia is a neurological disorder as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally inability of voluntary eye reopening without an orbicularis ...
Cancers and tumors (neoplasms) of the appendix are extremely rare groups of tumors and they most typically present either as appendicitis, a hernia filled with mucin, increasing abdominal girth, ...
Infantile apnea is a rare disease that is characterized by cessation of breathing in an infant for at least 20 seconds or a shorter respiratory pause that is associated with a slow heart rate, ...
Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance congenital skin defect characterized by a focal or extensive absence of the epidermis, dermis, and occasionally ...
Apert syndrome is a rare autosomal dominant inherited craniosynostosis genetic condition that is apparent at birth through the premature fusion of coronal sutures resulting in the skull and facial ...
AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a group of slowly-progressing neurodegenerative disorders that generally present with global developmental delay, moderate to severe ...
Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes to the skull, bones of the face, and other skeletal abnormalities. It is a rare, distinct craniosynostosis ...
Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. Antithrombin is a ...
Antisynthetase syndrome is a rare, chronic, autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, fever, Raynaud’s phenomenon, mechanic’s hand, and ...
Antiphospholipid syndrome (APS) is a rare autoimmune multisystemic disorder characterized by the presence of antiphospholipid antibodies in the setting of thrombosis and/or pregnancy loss and the ...
Gillespie syndrome, also known as Aniridia, cerebellar ataxia, and mental deficiency, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or part ...
Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or part ...
Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal development of the iris of the eye. The ...
Angioimmunoblastic T-cell lymphoma (AITL, sometimes misspelled AILT, formerly known as angioimmunoblastic lymphadenopathy with dysproteinemia ) is a rare form of non-Hodgkin lymphoma, which is a ...