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 Cafe Au Lait Macules? “Cafe-au-lait macules” or CALMs are flat discolored spots on the …
What is C1 Esterase Inhibitor Deficiency? Hereditary angioedema, also known as C1 esterase deficiency, is a …
What is Brain Cavernous Angiomas (cavernous malformations)? Cavernous angiomas, also known as cavernous malformations, cavernous hemangiomas, …
What is Bone Marrow Failure? Bone marrow failure (BMF) is a condition where the bone marrow …
What is Bochdalek Hernia? A Bochdalek hernia is a birth defect that happens when there’s a …
What is Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)? Blue Rubber Bleb Nevus Syndrome, also known …
What is Bleeding Disorders? Your body has built-in systems to stop bleeding when you get hurt. …
What is Birt-Hogg-Dube Syndrome? Birt-Hogg-Dube syndrome (BHDS) is a genetic skin disorder that typically starts showing …
What is Best Disease? Best disease, also known as Best vitelliform macular dystrophy (BVMD), is a …
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