Disease Directory

MELAS syndrome caused by mutation in MTTK is a form of MELAS syndrome where the disorder is linked to a change in the MTTK gene. This condition is par...

MELAS syndrome caused by mutation in MTTL1 is a rare condition that falls under the MELAS syndrome umbrella. In this condition, the disease is specifi...

MELAS syndrome caused by mutation in MTTQ is a rare form of MELAS syndrome, where the underlying cause of the condition is a change in the MTTQ gene....

MELAS syndrome caused by mutation in MTTS1 is a form of MELAS syndrome where the cause is a mutation in the MTTS1 gene. This condition is also known a...

MELAS syndrome caused by mutation in MTTS2 is a form of MELAS syndrome in which the mutation occurs in the MTTS2 gene. This summary is based on the av...

MEND syndrome is a rare disorder that is mentioned as X-linked recessive and primarily affects males. The condition has been associated with changes i...

MERRF syndrome is a rare condition that affects the mitochondria, the parts of cells that help produce energy. This disorder is known as a mitochondri...

MERTK-related retinopathy is an inherited eye condition. It is known as a retinopathy because it primarily affects the retina, which is the light-sens...

MGAT2-congenital disorder of glycosylation is a very rare inherited condition affecting multiple systems, particularly impacting neurological developm...

Information about the overall description of this condition is currently limited for this condition. MGP-related spondyloepiphyseal dysplasia is a rar...

MHC class I deficiency is a very rare, primary genetic immunodeficiency caused by a defect in the expression of human leukocyte antigen (HLA) class I....

MHC class I deficiency 1 is a rare condition that is linked to the gene TAP1. Due to limited information available in the trusted sources, details abo...

MHC class I deficiency 2 is a rare condition with limited information available. The details about this condition, including its definition and overal...

Information about overview is currently limited for this condition.

MHC class II deficiency is a rare genetic disorder in which people lack or have reduced expression of human leukocyte antigen (HLA) class II proteins....

MHC class II deficiency 1 is a rare immunological condition. Detailed information about the overall presentation and course of this disorder is limite...

MHC class II deficiency 2 is a rare genetic condition that affects the immune system. It is linked to changes in the RFXANK gene, which plays a role i...

MHC class II deficiency 3 is a rare genetic condition. Public resources such as OMIM (OMIM:620816) list this condition, but detailed clinical descript...

MHC class II deficiency 4 is a rare condition that has been catalogued in medical classification systems such as OMIM (OMIM:620817). Although detailed...

MHC class II deficiency 5 is a rare condition that has been recorded in medical databases such as OMIM (OMIM:620818). Information about the overall ch...