COL4A4-related Alport syndrome and thin basement membrane nephropathy (TBMN are genetic conditions that affect the kidney’s filter (the glomerular basement ...

Autosomal recessive Alport syndrome 2 (ARAS2) is a genetic kidney disease caused by harmful changes in the COL4A4 gene. This gene helps make type IV collagen, ...

Autosomal recessive Alport syndrome is an inherited kidney disease caused by changes (variants) in the COL4A3 or COL4A4 genes. These genes make parts of type ...

Autosomal erythropoietic protoporphyria (EPP) is a rare, inherited blood and skin disorder. It happens because the body cannot finish making heme, the ...

Vitreoretinochoroidopathy with microcornea is a rare, inherited eye disease in which several parts of the eye develop and function abnormally. The back of the ...

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) with nanophthalmos is a rare, inherited eye disorder. “Autosomal dominant” means a single changed gene ...

Autosomal Dominant Vitreoretinochoroidopathy—usually shortened to ADVIRC—is a very rare, inherited eye disease caused by a change (pathogenic variant) in the ...

Dermodistortive urticaria—often shortened to DDU—is a rare “physical urticaria.” It means the skin makes quick, itchy swellings (hives/wheals) exactly where ...

Autosomal dominant vibratory urticaria is a rare skin condition where vibration, repeated stretching, or friction of the skin causes hives (urticaria), ...

Trüeb–Burg–Bottani syndrome refers to a genetic disorder affecting body parts that come from the outer embryonic layer (the ectoderm)—especially hair, teeth, ...

Tricho-odonto-onychodysplasia is a genetic condition in which the outer body tissues that come from the ectoderm (hair, teeth, nails, skin, sweat glands) do ...

Autosomal Dominant Tricho-Odonto-Onychodysplasia-Syndactyly is a very rare inherited ectodermal dysplasia in which structures made from the outer layer of the ...

Autosomal dominant spondylocostal dysplasia is a very rare, inherited disorder where the spine and ribs do not form normally before birth. The condition ...

Spondylocostal dysostosis (SCDO) is a rare birth condition where the bones of the spine (vertebrae) and ribs do not form and separate normally before birth. ...

Autosomal dominant spondylocostal dysostosis is a very rare birth condition that affects how the bones of the spine and ribs form. The small bones of the spine ...

Autosomal dominant slowed nerve conduction velocity means a person inherits (from one parent) a gene change that damages the myelin covering of peripheral ...

Severe congenital neutropenia (SCN) is a rare disorder present from birth where the body makes far too few neutrophils, the white blood cells that first fight ...

Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare, inherited immune disorder present from birth in which the body has very low numbers of ...

Rhegmatogenous retinal detachment happens when a tear or hole in the retina lets the eye’s gel (vitreous) leak under the retina. Fluid collects under the ...

Autosomal Dominant Rhegmatogenous Retinal Detachment (AD-RRD) is an inherited eye condition in which the thin light-sensing tissue at the back of the eye (the ...