Acute zonal occult outer retinopathy (AZOOR) is a rare eye condition where people may experience sudden flashes of light and patches of vision loss. I...

Acyl-CoA binding domain containing protein 5 deficiency is a disorder related to a single peroxisomal protein known as ACBD5. This protein helps form...

Acyl-CoA dehydrogenase 9 deficiency is a rare disorder that affects the mitochondria’s ability to produce energy. It leads to a deficiency of complex...

Information about acyl-CoA dehydrogenase deficiency is currently limited for this condition.

ACys amyloidosis, also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type, is a rare genetic condition. It typically sta...

Adactylia, unilateral is a rare congenital condition affecting the hand. People with this condition are born with a partially formed hand where the te...

Adactyly of foot, also known as congenital absence of toes, is a rare condition that is present from birth. Detailed information about its overall cha...

Adactyly of foot, bilateral, also known as congenital absence of toes, bilateral, is a rare congenital condition where the toes are absent from both f...

Adactyly of foot, unilateral is a rare congenital condition characterized by the absence of one or more parts of the foot, most commonly resulting in...

ADAM9-related retinopathy is an inherited retinal disorder that primarily affects vision, with a recognized subtype known as cone-rod dystrophy 9. It...

Adamantinoma is a low grade malignant tumor that usually develops in the long bones, with the tibia being the most common site. It is marked by a uniq...

Adamantinous craniopharyngioma is a type of brain tumor that arises from remnants of Rathke's pouch. It is described by a structure that includes broa...

Adams-Oliver syndrome is a rare developmental disorder characterized by the presence of congenital limb abnormalities and scalp defects, which may be...

Adams-Oliver syndrome 1 is a congenital condition characterized by developmental anomalies that may include defects of the scalp, limb abnormalities,...

Adams-Oliver syndrome 2 is a rare genetic condition caused by a mutation in the DOCK6 gene. It falls under the broader group of Adams-Oliver syndrome...

Adams-Oliver syndrome 3 is a congenital condition affecting multiple organ systems, with a primary impact on the nervous system and distinctive limb a...

Adams-Oliver syndrome 4 is a genetic condition primarily characterized by a congenital scalp defect, known as aplasia cutis congenita, and limb anomal...

Adams-Oliver syndrome 5 is a rare genetic condition caused by a mutation in the NOTCH1 gene. This condition is one type of Adams-Oliver syndrome, and...

Adams-Oliver syndrome 6 is a congenital condition characterized by a spectrum of physical anomalies that primarily affect the cardiovascular system an...

ADan amyloidosis is a condition that falls within the spectrum of cerebral amyloid angiopathies and is primarily characterized by neurological disturb...