Disease Directory

Löfgren syndrome is a form of sarcoidosis, which is an inflammatory condition. It is defined by a specific set of findings: red, tender bumps on the s...

MAK-related retinopathy is a type of eye disease that affects the retina. It occurs due to changes in the MAK gene, which is important for normal eye...

MALT lymphoma is an indolent form of non-Hodgkin lymphoma that primarily involves extranodal sites such as the gastrointestinal tract, lung, head and...

MAN1B1-CDG is a rare genetic condition that is part of a group of disorders known as congenital disorders of N-linked glycosylation. This condition af...

MAN2B2 deficiency is a type of non-severe combined immunodeficiency that occurs due to changes in the MAN2B2 gene. This condition affects the immune s...

MASA syndrome is a historical term that described a collection of signs now seen as part of the X-linked L1 clinical spectrum (also known as L1 syndro...

MASS syndrome is a genetic disorder that affects the connective tissue—the material that provides structure and strength to the body’s cells. It is ca...

MAX-related tumor predisposition is an inherited condition caused by changes in the MAX gene. It is characterized by an increased risk of developing s...

MCD diffuse large B-cell lymphoma is a type of lymphoma that is categorized as MCD by the LymphGen algorithm. This categorization is based on several...

MED12-related intellectual disability syndrome is an X-linked condition that causes intellectual disability and various other physical features. It is...

MEDNIK syndrome is a rare condition that affects several body systems. It is known for causing intellectual challenges, problems with the intestine (e...

MEGF10-related myopathy is a congenital muscle disorder caused by mutations in the MEGF10 gene. This condition is characterized by early-onset muscle...

MEGF8-related Carpenter syndrome is a rare genetic condition that falls within the spectrum of Carpenter syndromes. It is caused by a mutation in the...

MEHMO syndrome is a rare condition that affects multiple parts of the body. It is characterized by severe intellectual disability, epilepsy, microceph...

MELAS syndrome is a rare, progressive multisystem disorder that primarily affects the brain and muscles, resulting in stroke-like episodes, lactic aci...

MELAS syndrome caused by mutation in MTND1 is a type of mitochondrial disorder. In this condition, a mutation in the MTND1 gene affects the way cells...

MELAS syndrome caused by mutation in MTND5 is a form of MELAS syndrome where the genetic change specifically affects the MTND5 gene. This gene mutatio...

MELAS syndrome caused by mutation in MTND6 is a rare disorder defined by an alteration in a specific gene known as MTND6. This condition falls under t...

MELAS syndrome caused by mutation in MTTC is a form of MELAS syndrome where the condition is linked to a mutation in the MTTC gene. MELAS stands for M...

MELAS syndrome caused by mutation in MTTH is a rare condition within the spectrum of MELAS syndromes. This condition is defined by the presence of a m...