Disease Directory

L-cell glucagon-like peptide-producing neuroendocrine tumor is a type of tumor that starts in the neuroendocrine cells of the gastrointestinal tract....

L-ferritin deficiency is a rare genetic condition known by several names including L-ferritin deficiency, dominant and recessive L-ferritin deficiency...

L1 syndrome is a congenital developmental disorder that is inherited in an X-linked manner. It can range from mild to severe and affects brain develop...

LADD syndrome is a rare congenital disorder where multiple body systems are affected. People with this condition often have abnormalities in the tear...

LADD syndrome 1 is a rare genetic condition caused by a variation in the FGFR2 gene. This condition affects multiple parts of the body and is sometime...

LAMA2-related muscular dystrophy is a form of muscular dystrophy that is caused by a mutation in the LAMA2 gene. This condition affects muscle strengt...

LAMA5-related multisystemic syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by symptoms that begin in...

LCA5-related retinopathy is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by biallelic var...

LCAT deficiency is a rare disorder of lipoprotein metabolism. It is characterized by the abnormal processing of cholesterol, and people with this cond...

LEOPARD syndrome 1 is a rare condition that falls under the group of disorders sometimes called Noonan syndrome with multiple lentigines. The conditio...

LEOPARD syndrome 2 is a rare condition that falls under the group of Noonan syndromes with multiple lentigines. A key aspect of this condition is that...

LEOPARD syndrome 3 is a rare genetic condition that falls under the group of Noonan syndromes with multiple lentigines. It is caused by a mutation in...

LIPE-related familial partial lipodystrophy, also known as FPLD6, familial partial lipodystrophy associated with LIPE mutations, is a rare genetic con...

LMNA-related cardiocutaneous progeria syndrome is a rare genetic condition that causes premature aging. People with this condition develop skin change...

LRIT3-related retinopathy is a condition that affects the retina, which is the light-sensitive tissue at the back of the eye. This condition is caused...

LRP5-related exudative vitreoretinopathy is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. In this condi...

Information about the disease definition is currently limited for this condition. LRP5-related primary osteoporosis is a rare disorder indicated by it...

LZTFL1-related ciliopathy is a disorder that arises from changes in the LZTFL1 gene. This condition is part of a group of disorders known as ciliopath...

Information about LZTR1-related schwannomatosis is currently limited for this condition. This condition is also known by several other names, includin...

Lafora disease (LD) is a rare, inherited condition characterized by severe progressive myoclonic epilepsy. It is caused by variants in the NHLRC1 and...