Disease Directory

Meier-Gorlin syndrome 1 is a multisystem disorder that primarily affects skeletal development, craniofacial features, and other body systems from infa...

Meier-Gorlin syndrome 2 is a rare form of Meier-Gorlin syndrome where the condition is caused by a mutation in the ORC4 gene. It is part of a group of...

Meier-Gorlin syndrome 3 is a rare condition that is part of the broader group of disorders known as Meier-Gorlin syndromes. This specific type is caus...

Meier-Gorlin syndrome 4 is a rare condition that is part of the Meier-Gorlin syndrome group. This particular type is caused by a mutation in the CDT1...

Meier-Gorlin syndrome 5 is a rare genetic condition that is part of a group of disorders known as Meier-Gorlin syndrome. This condition is caused by a...

Meier-Gorlin syndrome 6 is a rare condition that is a type of Meier-Gorlin syndrome. It is caused by a mutation in the GMNN gene. This genetic change...

Meier-Gorlin syndrome 7 is a genetic condition that is caused by mutations in the CDC45 gene. This syndrome is one type of Meier-Gorlin syndrome, a gr...

Meier-Gorlin syndrome 8 (MGORS8) is a rare condition that is linked with changes in the MCM5 gene. It is listed in the OMIM database with the identifi...

Meigs syndrome is a rare condition that mainly affects females. It is characterized by the buildup of fluid in the chest, known as pleural effusion, a...

Melhem-Fahl syndrome is a rare condition that was first described in 1985 in two siblings born to consanguineous parents. The condition is characteriz...

Melkersson-Rosenthal syndrome is a rare condition that usually starts in childhood or early adolescence. It is known for a group of three main feature...

Melnick-Needles syndrome is a disorder that falls within the otopalatodigital syndrome spectrum. It is characterized by short stature, distinctive fac...

Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency is a rare genetic condition. It is character...

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency is a rare genetic condition. It is caused by a complete deficiency...

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is a rare genetic condition that affects the immune system. Peop...

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a rare inherited condition that affects the immune syste...

This condition is a rare genetic variant of Mendelian susceptibility to mycobacterial diseases. It is characterized by a specific vulnerability to rel...

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is a genetic condition that causes a partial defect in the interfer...

Meniere disease is a disorder of the inner ear (labyrinth) that is marked by fluctuating sensorineural hearing loss, tinnitus (ringing in the ears), e...

Menke-Hennekam syndrome is a rare condition that has been cataloged by reputable sources such as Orphanet (ID: Orphanet:592574) and GARD (ID: GARD:223...