Disease Directory

Alzheimer disease 7 is a rare form of Alzheimer disease that is linked to a genetic variation in the region 10p13. This condition has been noted in fa...

Alzheimer disease 8 is a form of Alzheimer’s disease that is linked to genetic changes. It is defined by a variation in the region 20p12.2-q11.21 of t...

Alzheimer disease type 1 is a familial form of Alzheimer disease and is sometimes referred to as the early-onset familial form of Alzheimer disease. I...

Alzheimer disease without neurofibrillary tangles, also known as AD15 or Alzheimer's disease type 15, is a rare variant noted in genetic databases. Un...

Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology is a rare form of early-onset Alzheimer disease. This condition i...

Ambras type hypertrichosis universalis congenita, also known as Ambras syndrome, is an extremely rare genetic condition that causes excessive hair gro...

Amish lethal microcephaly is a very rare condition that is marked by an extremely small head size (microcephaly) and an early death, usually within th...

Anaplasmataceae infectious disease refers to infections caused by bacteria in the family anaplasmataceae. These bacteria are grouped based on their co...

Andersen-Tawil syndrome is a rare disorder that affects both the muscles and the heart. It is known for episodes of muscle weakness or paralysis and a...

Information about overview is currently limited for this condition.

Angel-shaped phalango-epiphyseal dysplasia is a rare form of acromelic dysplasia that mainly affects the bones. People with this condition show a uniq...

Angelman syndrome is a neurodevelopmental condition that primarily affects the brain and nervous system, leading to significant challenges with learni...

Angelman syndrome due to a point mutation is a rare neurogenetic disorder characterized by severe developmental delays, speech impairment, and ataxia....

Angelman syndrome due to imprinting defect in 15q11-q13 is a rare neurogenetic disorder characterized by severe developmental delays, speech impairmen...

Information about overview is currently limited for this condition.

Angelman syndrome due to paternal uniparental disomy of chromosome 15 is a rare genetic condition. Detailed definitions are not available in the provi...

Angora hair nevus, also known as Schauder syndrome, is a rare condition. Detailed information and a clear clinical definition of this condition are no...

Antley-Bixler syndrome is a very rare disorder that mainly affects the bones of the head and face. It is defined by features such as craniosynostosis,...

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is a rare condition. Its name indicates that it may involve unusual devel...

Information about the overview is currently limited for this condition. This condition is also known by several other names such as ABS2, multisynosto...