Disease Directory

MIR140-related spondyloepiphyseal dysplasia is a rare condition that affects the skeleton. Although detailed information about how the condition devel...

MIRAGE syndrome is a rare, autosomal dominant condition caused by changes in the SAMD9 gene. People with this condition may experience a range of symp...

MIT family translocation renal cell carcinoma is a rare subtype of kidney cancer. It is characterized by genetic changes, specifically rearrangements...

MKKS-related ciliopathy is a term used to describe any ciliopathy caused by variants in the MKKS gene. Ciliopathies are a group of conditions in which...

MKS1-related ciliopathy is a rare condition caused by changes in the MKS1 gene. This gene is important for the function of cilia, which are small, hai...

Currently, MME-related autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) lacks a defined genetic basis, and the inheritance pattern remains...

MMEP syndrome is a rare congenital condition that affects the development of several parts of the body. It is a syndromic form of split-hand/foot malf...

MOGS-congenital disorder of glycosylation (MOGS-CDG) is a type of congenital disorder affecting N-linked glycosylation, a process that helps form prot...

MOMO syndrome is a very rare genetic condition that leads to overgrowth and obesity. People with this syndrome may have a large head (macrocephaly), h...

MORM syndrome is a rare condition that has been described in 14 individuals from a consanguineous family. It is characterized by intellectual difficul...

MPDU1-congenital disorder of glycosylation, also known as CDG syndrome type If, is part of a group of inherited conditions called congenital disorders...

MPI-congenital disorder of glycosylation (MPI-CDG) is a rare condition that affects how certain sugar molecules attach to proteins, a process called g...

MRCS syndrome is a rare genetic retinal dystrophy that affects both eyes. People with this condition have abnormally small corneas (microcornea), prob...

MTOR-related overgrowth spectrum is a condition where some parts of the body grow larger than usual. This overgrowth happens because of changes in a s...

MVP1 is a condition that involves the mitral valve of the heart. It is sometimes referred to by several other names such as Barlow syndrome, click-mur...

Information about the definition of this condition is currently limited. This rare condition is noted for its connection with arthrogryposis multiplex...

MYH10-related neurodevelopmental disorder with congenital anomalies is a rare genetic condition that affects brain development and may present with va...

MYH7-related skeletal myopathy is a rare autosomal dominant condition that primarily affects the muscles of the hands, feet, and neck. It is character...

Information about overview is currently limited for this condition.

MYPN-related myopathy is a congenital muscle disorder caused by mutations in the MYPN gene. It is part of a group of conditions known as congenital my...