Alkaptonuria
What is Alkaptonuria? Alkaptonuria is a very rare genetic disorder that occurs due to a shortage …
What is Alkaptonuria? Alkaptonuria is a very rare genetic disorder that occurs due to a shortage …
What is Allgrove Syndrome (3A syndrome (AAA))? Allgrove syndrome, also known as 3A syndrome (AAA), was …
What is Synovial Cell Sarcoma? Synovial sarcoma (SS) is a type of tumor that partly turns …
What is Stevens-Johnson Syndrome? Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are different types of …
What is Sturge-Weber Syndrome? Sturge-Weber syndrome (SWS) is a certain type of disorder that comes with …
What is Pelizaeus-Merzbacher Disease? Pelizaeus-Merzbacher disease, or PMD, is a condition that affects the central nervous …
What is Cerebral Autosomal Dominant Arteriopathy? Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) …
What is Acute Porphyria? Acute porphyria is a term that describes a set of uncommon diseases …
What is Adrenal Hypoplasia? Adrenal hypoplasia is a condition where the outer layer of the adrenal …
What is Photosensitivity? Photosensitivity is a term used to describe a range of symptoms, diseases, and …
What is Supernumerary Digit (polydactyly)? A supernumerary digit, also known as polydactyly, is a birth condition …
What is Pleuropulmonary Blastoma? Childhood lung tumors are very rare and only make up between 0.5% …
What is Phocomelia? Phocomelia is a rare birth defect where there are missing parts of the …
What is Peutz-Jeghers Syndrome? Peutz-Jeghers syndrome (PJS) is a genetic condition that increases a person’s risk …
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