Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Polyarteritis nodosa
Not applicable
All ages
Polycythemia vera
Not applicable
All ages
Polyembryoma
Not applicable
Adolescent, Adult
Polyendocrine-polyneuropathy syndrome
Autosomal recessive
Childhood
Polyglucosan body myopathy type 1
Autosomal recessive
Adolescent, Childhood
Polyglucosan body myopathy type 2
Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Polymerase proofreading-related polyposis
Autosomal dominant
Childhood
Polymyositis
Not applicable
Adult, Elderly
Polyneuropathy associated with IgM monoclonal gammopathy
Not applicable
Adult, Elderly
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Autosomal recessive
Childhood
Pontiac fever
Not applicable
All ages
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Autosomal dominant
Adult
Porencephaly
Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal
Porokeratosis of Mibelli
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood
Porokeratosis plantaris palmaris et disseminata
Autosomal dominant, X-linked dominant
Adolescent, Adult
Porokeratotic eccrine ostial and dermal duct nevus
Not applicable
Infancy, Neonatal
Porphyria cutanea tarda
Autosomal dominant, Multigenic/multifactorial
Adult
Porphyria due to ALA dehydratase deficiency
Autosomal recessive
Adolescent, Childhood
Portosinusoidal vascular disease
Adult
Post 5-alpha-reductase inhibitors treatment syndrome
Not applicable
Post-selective serotonin reuptake inhibitor sexual dysfunction
Not applicable
Post-transplant lymphoproliferative disease
Not applicable
All ages
Post-traumatic pituitary deficiency
Adolescent, Adult, Childhood, Elderly