Disease Directory

RYR1-related myopathy is a condition that affects the muscles and is caused by changes in the RYR1 gene. This gene is responsible for creating a prote...

Rabson-Mendenhall syndrome is a rare condition that falls under the group of extreme insulin-resistance syndromes. It is known by several names includ...

Radio-Tartaglia syndrome is a condition caused by a variation in the SPEN gene. It is known to affect brain development and can lead to developmental...

Rafiq syndrome is a condition where there is intellectual disability caused by changes in a gene called MAN1B1. This condition is inherited in an auto...

Rahman syndrome is a condition that affects growth and brain development. It is characterized by mild to severe intellectual disability and somatic ov...

Rajab interstitial lung disease with brain calcifications is a rare disease. Detailed information about this condition is currently limited in medical...

Rajab interstitial lung disease with brain calcifications 1 is a very rare genetic condition. It is also known by several other names, including Rajab...

Rajab interstitial lung disease with brain calcifications 2 is a rare genetic condition that has been noted to involve both the lungs and the brain. A...

Ramon syndrome is a rare condition that has been documented in specialized databases such as OMIM, Orphanet, and GARD. This syndrome is known by sever...

Ramos-Arroyo syndrome is a very rare genetic disorder. It is characterized by several distinct features, including reduced sensation in the cornea (co...

Rapp-Hodgkin syndrome is a form of ectodermal dysplasia. This condition is characterized by anhidrotic ectodermal dysplasia along with cleft lip and/o...

Rasmussen subacute encephalitis is a rare neurological condition that causes chronic, progressive inflammation in one cerebral hemisphere. It usually...

Rauch-Steindl syndrome is a rare genetic condition linked to changes in the NSD2 gene. Although a detailed definition is not available, key databases...

Reis-Bucklers corneal dystrophy is a rare eye condition that affects the cornea, the clear front part of the eye. It is characterized by bilateral, sy...

Renpenning syndrome is an X-linked condition that affects development. It is characterized by intellectual deficiency, a smaller head size (microcepha...

Rett syndrome is a severe neurodevelopmental disorder that primarily affects the central nervous system. It is caused by pathogenic variants in the ME...

Reunion island Larsen syndrome is a rare condition that is sometimes referred to as RLS or multiple joint dislocations-short stature-hyperlaxity-crani...

Revesz syndrome is a rare and severe variant of dyskeratosis congenita that typically starts in early childhood. People with this condition show chang...

Reye syndrome is an acute, potentially fatal metabolic disorder that primarily affects children. It is known for causing swelling in the brain (cerebr...

Reynolds syndrome is an autoimmune disorder that is defined by the presence of two conditions: primary biliary cirrhosis (PBC) and limited cutaneous s...