Disease Directory

8p23.1 microdeletion syndrome is a condition caused by a partial deletion of the short arm of chromosome 8. This genetic change can affect several par...

8q12 microduplication syndrome is a genetic condition recently described by researchers. It is associated with unique features affecting multiple orga...

8q22.1 microdeletion syndrome, also known as Nablus mask-like facial syndrome, is a rare condition caused by a small missing piece of genetic material...

8q24.3 microdeletion syndrome, also known as Verheij syndrome, VRJS, or chromosome 8Q24.3 deletion syndrome, is a rare genetic condition associated wi...

9p13 microdeletion syndrome is a rare chromosomal condition that occurs due to a partial deletion on the short arm of chromosome 9. This deletion lead...

9q21.13 microdeletion syndrome is a rare genetic condition that affects development. People with this condition often experience global developmental...

Information about the overview is currently limited for this condition. 9q31.1q31.3 microdeletion syndrome, also known as Del(9)(q31.1q31.3) or monoso...

9q33.3q34.11 microdeletion syndrome is a rare condition that results from a small deletion in a specific part of chromosome 9. Detailed information ab...

A20 haploinsufficiency, also known as HA20, is a rare immune dysregulation condition. It is caused by a mutation in the TNFAIP3 gene, which plays a ro...

A4GALT-congenital disorder of glycosylation is a rare genetic condition that falls under a group of disorders known as congenital disorders of glycosy...

A53 diffuse large B-cell lymphoma is a type of cancer that affects B-cells, which are an important part of the immune system. This condition is charac...

AA amyloidosis, also known as secondary, inflammatory, reactive, or secondary amyloidosis, is a condition that happens as a complication of chronic in...

AARS1-related leukoencephalopathy is a disorder that affects the white matter of the brain. It is defined as any leukoencephalopathy where the cause i...

Information about overview is currently limited for this condition.

Information about an overview of AApoAIV amyloidosis is currently limited for this condition.

ABCA4-related retinopathy is an inherited eye condition that affects the retina, the light-sensitive layer at the back of the eye. This condition occu...

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a rare inherited condition. It typically begins between the ages of 54 and 61...

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a rare condition that affects the brain. It is marked by symptoms such as memory...

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a rare, inherited condition. It is characterized by symptoms that typically b...

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a familial condition affecting the central nervous system. It is marked by se...