Neuroendocrine tumor of pancreas

Autosomal dominant, Not applicable

Adult

Neurometabolic disorder due to serine deficiency

Infancy, Neonatal

Neurovascular malformation

All ages

Non-Hodgkin lymphoma

Adolescent, Adult, Childhood, Elderly, Infancy

Non-acquired combined pituitary hormone deficiency

All ages

Non-hereditary degenerative ataxia

Not applicable

Adult

Non-infectious posterior uveitis

Panuveitis

Not applicable

All ages

Paraneoplastic neurologic syndrome

Not applicable

All ages

Parasitic myositis

All ages

Partial deletion of the short arm of chromosome 7 syndrome

Antenatal

Partial duplication of the long arm of chromosome 14 syndrome

Pattern dystrophy

Autosomal dominant, Autosomal recessive

Adult

Pediatric-onset glaucoma

Adolescent, Childhood, Infancy, Neonatal

Pediatric-onset glaucoma of genetic origin

Autosomal dominant, Autosomal recessive

Childhood

Permanent congenital hypothyroidism

Autosomal recessive, Not applicable

Infancy, Neonatal

Polymalformative genetic syndrome with increased risk of developing cancer

Autosomal dominant, Autosomal recessive

All ages

Posterior corneal dystrophy

Autosomal dominant, Autosomal recessive, X-linked recessive

All ages

Posterior uveitis

Not applicable

All ages

Primary congenital hypothyroidism without thyroid developmental anomaly

Primary cutaneous T-cell lymphoma

Primary cutaneous lymphoma

Primary immunodeficiency

Primary lipodystrophy

All ages