Explore 10,888+ rare diseases with trusted, clear information
Medical professionals review and validate information.
Expert Stewards stand behind their work.
Patients and families contribute real-world insights.
Showing 1,681-1,700 of 15,964 diseases
MONDO:0009367
McKusick-Kaufman syndrome is a very rare genetic developmental disorder. It is most often seen in the neonatal period and is characterized by malforma...
MONDO:0018945
McLeod neuroacanthocytosis syndrome is a rare disorder that affects the brain and blood cells. It is part of a group of conditions known as neuroacant...
MONDO:0012164
Meacham syndrome is a rare condition that affects several parts of the body. It is characterized by malformations that occur during development. Peopl...
MONDO:0000954
Meckel diverticulum cancer is a type of cancer that occurs in a Meckel's diverticulum. A Meckel's diverticulum is a small pouch in the wall of the sma...
MONDO:0018921
Meckel syndrome is a rare, lethal genetic disorder that causes multiple birth defects. People with this condition often have a combination of brain ma...
MONDO:0033044
Meckel syndrome 13, also known as Meckel syndrome type 13 or MKS13, is a rare condition. Information about its overall characteristics is limited, but...
MONDO:0009571
Meckel syndrome, type 1 is a rare genetic disorder that is caused by mutations in the MKS1 gene. It is also known by several other names including MKS...
MONDO:0013609
Meckel syndrome, type 10 is a rare form of Meckel syndrome that is caused by a mutation in the B9D2 gene. This condition is part of a group of disorde...
MONDO:0014164
Meckel syndrome, type 11 is a rare genetic disorder caused by a mutation in the TMEM231 gene. This condition is one type within a group of disorders k...
MONDO:0011296
Meckel syndrome, type 2 is a rare condition caused by a mutation in the TMEM216 gene. It is one of the types of Meckel syndrome and is sometimes refer...
MONDO:0011821
Meckel syndrome, type 3 is a rare genetic disorder caused by a mutation in the TMEM67 gene. This condition is one type of Meckel syndrome, and its nam...
MONDO:0012626
Meckel syndrome, type 4 is a form of Meckel syndrome that is caused by a mutation in the CEP290 gene. This condition is defined by its genetic basis,...
MONDO:0012695
Meckel syndrome, type 5 is a rare genetic condition that is part of the group of disorders known as Meckel syndrome. This condition is defined by a mu...
MONDO:0012848
Meckel syndrome, type 6 is a rare inherited condition that is caused by a mutation in the CC2D2A gene. This condition is part of the group of disorder...
MONDO:0013482
Meckel syndrome, type 8 is a rare genetic condition that is caused by a mutation in the TCTN2 gene. This condition is part of the group of disorders k...
MONDO:0013630
Meckel syndrome, type 9 is a rare form of Meckel syndrome. This condition occurs when there is a mutation in the B9D1 gene. Meckel syndrome is a group...
MONDO:0018268
Medich giant platelet syndrome is a rare blood disorder that involves a problem with platelets. In this condition, platelets are fewer in number (thro...
MONDO:0007379
Meesmann corneal dystrophy (MECD) is a rare condition affecting the surface of the cornea, the clear front part of the eye. It is characterized by tin...
MONDO:0010515
Meester-Loeys syndrome, also known as MRLS, is a rare condition with limited detailed information available. A formal definition is not provided in th...
MONDO:0016817
Meier-Gorlin syndrome, also known as ear-patella-short stature syndrome, is a condition that involves several physical differences. People with this c...