Disease Directory

Niemann-Pick disease type A is a very rare, inherited lysosomal storage disorder that primarily affects infants and young children. It results from pa...

Niemann-Pick disease type B is a form of lysosomal storage disorder that primarily affects children and involves multiple organ systems including the...

Niemann-Pick disease type C (NPC) is a complex lipid storage disorder primarily characterized by the accumulation of unesterified cholesterol within t...

Niemann-Pick disease type C, adult neurologic onset is a rare condition that is recognized by international resources such as Orphanet and GARD. The t...

Information about the overview is currently limited for this condition. The condition is identified as Niemann-Pick disease type C, juvenile neurologi...

Niemann-Pick disease type C, late infantile neurologic onset is a rare condition that affects the nervous system and other parts of the body. It is on...

Information about overview is currently limited for this condition.

Niemann-Pick disease type C, severe perinatal form is a rare condition identified by its early onset and severity. This condition is noted for its imp...

Niemann-Pick disease type E is a form of Niemann-Pick disease that begins in adulthood and does not affect the nervous system. This condition is descr...

Niemann-Pick disease, type C1 is a genetic disorder that primarily affects the neurological system as well as other organs. It is caused by mutations...

Niemann-Pick disease type C2 is a rare metabolic condition that affects many parts of the body. It is most often seen in childhood, although signs and...

Nijmegen breakage syndrome is a rare genetic condition that presents from birth. People with this condition typically have a smaller head size (microc...

Nijmegen breakage syndrome-like disorder is a rare genetic condition that affects many parts of the body. It is marked by growth retardation, short st...

Nipah virus disease is caused by the Nipah virus. It is a zoonotic disease, meaning it is transmitted from animals to people. The disease is relativel...

Information about the overview is currently limited for this condition.

Noonan syndrome (NS) is a genetic condition characterized by short stature, distinct facial features, and congenital heart defects. It is associated w...

Noonan syndrome 1 is a rare genetic condition caused by mutations in the PTPN11 gene. It is known by several synonyms, including NS1, Noonan syndrome...

Noonan syndrome 10 is a form of Noonan syndrome caused by a mutation in the LZTR1 gene. This condition is part of a group of disorders that affect gro...

Noonan syndrome 11, also known as NS11, is a rare genetic condition that is recognized by medical databases such as OMIM and GARD. Although detailed d...

Noonan syndrome 13 (NS13) is a rare genetic condition that is identified in part by changes in the MAPK1 gene. Although a detailed definition is not a...