Primary hyperoxaluria type 1

Autosomal recessive

All ages

Primary hyperoxaluria type 2

Autosomal recessive

Childhood

Primary hyperoxaluria type 3

Autosomal recessive

Childhood, Infancy

Primary hypertrophic osteoarthropathy

Autosomal recessive

Infancy, Neonatal

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Autosomal recessive

Childhood, Infancy

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Autosomal recessive

Childhood

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Autosomal recessive

Childhood

Primary hypomagnesemia with secondary hypocalcemia

Autosomal recessive

Infancy, Neonatal

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Autosomal dominant, Autosomal recessive

Childhood, Infancy

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Autosomal dominant

Infancy, Neonatal

Primary hypophysitis

Not applicable

Adult

Primary immunodeficiency

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Autosomal recessive

Infancy, Neonatal

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Autosomal recessive

Childhood

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Autosomal recessive

Infancy

Primary intestinal lymphangiectasia

All ages

Primary laryngeal lymphangioma

Infancy, Neonatal

Primary lateral sclerosis

Autosomal dominant, Autosomal recessive, Not applicable

Adult, Elderly

Primary lipodystrophy

All ages

Primary localized amyloidosis

Not applicable

Primary lymphedema

Autosomal dominant, Autosomal recessive

All ages

Primary mediastinal large B-cell lymphoma

Multigenic/multifactorial, Not applicable

Adult

Primary megaureter, adult-onset form

Unknown

Adult

Primary melanocytic tumor of central nervous system