Polymicrogyria

Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant

Childhood

Popliteal pterygium syndrome

Autosomal dominant

Antenatal, Neonatal

Porphyria

Autosomal dominant, Autosomal recessive

All ages

Potassium-aggravated myotonia

Autosomal dominant

Childhood

Prader-Willi-like syndrome

Neonatal

Primary congenital hypothyroidism

Primary cutaneous CD30+ T-cell lymphoproliferative disease

Adult

Primary cutaneous amyloidosis

Autosomal dominant, Not applicable

All ages

Primary cutis verticis gyrata

All ages

Primary hypertrophic osteoarthropathy

Autosomal recessive

Infancy, Neonatal

Primary hypophysitis

Not applicable

Adult

Primary progressive aphasia

Multigenic/multifactorial, Not applicable

Adult

Progressive myoclonic epilepsy

Adolescent, Childhood, Infancy, Neonatal

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

Childhood, Infancy, Neonatal

Pulmonary arterial hypertension associated with HIV infection

Not applicable

Adult

Pulmonary arterial hypertension associated with chronic hemolytic anemia

Multigenic/multifactorial, Not applicable

All ages

Pulmonary arterial hypertension associated with congenital heart disease

Not applicable

All ages

Pulmonary arterial hypertension associated with connective tissue disease

Not applicable

All ages

Pulmonary arterial hypertension associated with portal hypertension

No data available

Adult

Pulmonary arterial hypertension associated with schistosomiasis

Not applicable

All ages

Pulmonary valve agenesis

Not applicable

Infancy, Neonatal

Pure or complex autosomal dominant spastic paraplegia

Autosomal dominant

Pure or complex autosomal recessive spastic paraplegia

Autosomal recessive

Rare cutaneous lupus erythematosus

Multigenic/multifactorial

All ages