Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Asherson’s Syndrome
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Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over hours, days, or weeks, of rapidly progressive blood clots ...

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Asherman’s Syndrome
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Asherman’s syndrome is a rare, acquired, gynecological disorder of the uterus(intrauterine adhesions or intrauterine synechiae) that occurs when scar tissue ...

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ASAH1- Related Disorders
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ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in theĀ ASAH1 gene. Alterations in this gene result in a ...

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Distal Arthrogryposis, Pterygium Syndrome
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Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures ...

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Arthrogryposis
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Arthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures ...

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Martorell Syndrome
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Occlusive Thromboaortopathy
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Pulseless Disease
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Takayasu Arteritis
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Takayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive ...

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Arteriovenous Malformation
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Arteriovenous malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between ...

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Arterial Tortuosity Syndrome
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Arterial tortuosity syndrome (ATS) is an extremely rare genetic congenital connective tissue disorder characterized by lengthening (elongation) and twisting ...

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Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
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Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic autosomal recessive neurometabolic disorder that leads to a severe combined ...

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Argininosuccinic Aciduria
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Argininosuccinic aciduria is a rare genetic disorder characterized by the deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one ...

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Glycine Amidinotransferase Deficiency
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Glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of ...

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Arginase-1 Deficiency
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Arginase-1 deficiency is a rare inherited autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation characterized by a complete ...

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Arachnoid Cysts
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Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal) majority of ...

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Apraxia
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Apraxia is a neurological disorder as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally inability of ...

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Appendiceal Cancer and Tumors
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Cancers and tumors (neoplasms) of the appendix are extremely rare groups of tumors and they most typically present either as appendicitis, a hernia filled ...

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Infantile Apnea
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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 ...

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Aplasia Cutis Congenita
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Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance congenital skin defect characterized by a focal or extensive absence of ...

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