Bone Marrow Failure Syndrome Type 1 (BMFS1) is a rare, autosomal-dominant inherited disorder where the bone marrow slowly stops making enough healthy blood ...

Autoimmune thrombocytopenic purpura (ITP)—now most often called immune thrombocytopenia—is a bleeding condition caused by the immune system mistakenly ...

Metaphyseal dysplasia is an umbrella term for rare genetic bone conditions where the metaphyses—the flared ends of long bones near the joints—develop ...

RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-system disorder caused by somatic (acquired) “gain-of-function” mutations in the ...

Autoimmune lymphoproliferative syndrome type 4 is a rare immune system problem. In this condition, white blood cells do not switch off and die when they ...

Autoimmune lymphoproliferative syndrome caused by mutation in CASP8/Caspase-8 deficiency is a very rare, inherited problem of the immune system where a gene ...

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disorder in which a safety switch that tells certain immune cells (T lymphocytes) to die when they’re ...

Hereditary flat adenoma syndrome (HFAS)” is an older name for a milder form of familial adenomatous polyposis (FAP). Today, most experts call it attenuated ...

Attenuated adenomatous polyposis coli” is the milder form of familial adenomatous polyposis (FAP). It happens when a person is born with a harmful change (a ...

Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that causes a person to grow fewer colon and rectal polyps than the classic form of ...

Giant cell chondrodysplasia, in today’s language, means a bone or jaw growth problem where the tissue shows many “giant cells” under the microscope and the ...

Myelocerebellar disorder is an older name that doctors used for a rare, inherited condition now usually called ataxia-pancytopenia (AP) syndrome caused by ...

Inherited bone-marrow failure means a person is born with a change in a gene that weakens the bone marrow. The bone marrow is the soft center part inside ...

Ataxia-Pancytopenia Syndrome (ATXPC) is a rare, inherited disorder caused most often by changes (variants) in a gene called SAMD9L. “Ataxia” means problems ...

Astroblastoma is a very rare brain tumor. It grows from glial cells (the support cells of the brain). It is usually found in the cerebral hemispheres (the ...

Myelodysplasia are disorders of the bone marrow—the soft “factory” inside bones that makes blood cells. In MDS, early blood-forming stem cells acquire DNA ...

Vermiform appendix adenocarcinoma is a cancer that starts in the lining cells of the appendix, a thin, finger-like pouch attached to the first part of the ...

Appendiceal adenocarcinoma is a cancer that begins in the inner lining of the appendix. The lining is made of gland-forming cells that can make mucus (a thick, ...

Appendix adenocarcinoma is a cancer that begins in the gland-forming cells that line the inside of the appendix (a small, finger-like pouch at the start of the ...

Angioma serpiginosum is a benign skin condition in which tiny surface blood vessels (capillaries) in the upper layer of the skin become abnormally widened and ...