Disease Directory

NTHL1-deficiency tumor predisposition syndrome is a rare genetic condition that occurs when a person inherits two loss-of-function variants in the NTH...

NYX-related retinopathy is an inherited condition that affects the retina, the light sensitive tissue in the back of the eye. This condition is inheri...

Naegeli-Franceschetti-Jadassohn syndrome is a rare genetic disorder classified as an ectodermal dysplasia. It primarily affects the skin, sweat glands...

Nager acrofacial dysostosis, also known as Nager syndrome, is a condition present at birth that affects the development of the face and limbs. It is m...

Nance-Horan syndrome is a rare genetic condition that mainly affects males. It is known for causing congenital cataracts (present at birth), small eye...

Nathalie syndrome is a rare condition that has been described in a Dutch family and includes a range of symptoms. People with this condition may exper...

Naxos disease is a recessively inherited condition that affects both the heart and the skin. People with this condition have a form of heart muscle di...

Nelson syndrome is a condition that can develop after a bilateral adrenalectomy, which is a surgery performed for the treatment of Cushing syndrome. F...

Neorickettsia infectious disease is a condition caused by an infection with Neorickettsia. This disease is defined by the presence of the bacteria, wh...

Nestor-Guillermo progeria syndrome is a rare premature aging condition that is inherited in an autosomal recessive manner. It is characterized by earl...

Netherton syndrome is a complex skin disorder primarily affecting the integumentary system while also involving hair, gastrointestinal function, and i...

Neu-Laxova syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Neu-Laxova syndrome 1 is a very rare condition that is caused by a mutation in the PHGDH gene. This condition is one form of Neu-Laxova syndrome and h...

Neu-Laxova syndrome 2 is a rare genetic condition caused by a mutation in the PSAT1 gene. It is one form of Neu-Laxova syndrome and is sometimes refer...

Neuhauser anomaly is a rare heart and blood vessel condition. It happens because the aorta, the main blood vessel, does not develop in the usual way d...

Nevada syndrome is a rare and serious skin condition. People with this condition have a type of skin lesion called a keratinocytic epidermal nevus. Th...

Newfoundland cone-rod dystrophy is a rare inherited condition that affects the retina, the light-sensitive tissue at the back of the eye. This conditi...

Nezelof syndrome is a rare disorder that affects the immune system. It is sometimes referred to as T-lymphocyte deficiency, thymic aplasia, or immune...

Information about the disease overview is currently limited for this condition. Nicolau syndrome is recognized in medical sources, but detailed inform...

Niemann-Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin, a type of fat, accumulates in the lysosomes within ce...