Pulmonary valve agenesis

Not applicable

Infancy, Neonatal

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

Antenatal, Neonatal

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

All ages

Pulmonary venoocclusive disease

Autosomal recessive, Not applicable

All ages

Pulverulent cataract

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Punctate acrokeratoderma freckle-like pigmentation

Childhood

Punctate inner choroidopathy

Adult

Punctate palmoplantar keratoderma type 1

Autosomal dominant

Adolescent, Adult

Punctate palmoplantar keratoderma type 2

Autosomal dominant

Adult

Pure autonomic failure

Not applicable

Adult, Elderly

Pure hair and nail ectodermal dysplasia

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Pure mitochondrial myopathy

Mitochondrial inheritance

Adolescent, Childhood

Pure or complex autosomal dominant spastic paraplegia

Autosomal dominant

Pure or complex autosomal recessive spastic paraplegia

Autosomal recessive

Pure squamous carcinoma of the urothelial tract

Not applicable

Purine nucleoside phosphorylase deficiency

Autosomal recessive

Adolescent, Childhood, Infancy

Pustular pyoderma gangrenosum

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

Pustulosis palmaris et plantaris

Autosomal dominant, Autosomal recessive

Pycnodysostosis

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Pyknoachondrogenesis

Autosomal recessive

Antenatal, Neonatal

Pyle disease

Autosomal recessive

Infancy, Neonatal

Pyoderma gangrenosum

Unknown

Adolescent, Adult, Childhood, Elderly

Pyomyositis

Not applicable

All ages

Pyramidal molars-abnormal upper lip syndrome

Autosomal recessive

Childhood