MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Pseudotyphus of California

ORPHA:83316Disease
Not applicable

Pseudoxanthoma elasticum

ORPHA:758Disease
Autosomal recessive

Pseudoxanthoma elasticum-like papillary dermal elastolysis

ORPHA:228293Disease
Not applicable

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

ORPHA:436274Disease
Autosomal recessive

Psoriasis-related juvenile idiopathic arthritis

ORPHA:85436Disease
Unknown

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

ORPHA:505242Disease
Autosomal recessive

Pudendal nerve entrapment syndrome

ORPHA:60039Disease
Not applicable

Pulmonary alveolar microlithiasis

ORPHA:60025Disease
Autosomal recessive, Not applicable

Pulmonary blastoma

ORPHA:64741Disease
Multigenic/multifactorial

Pulmonary capillary hemangiomatosis

ORPHA:199241Disease
Autosomal dominant, Autosomal recessive, Not applicable

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

ORPHA:210136Disease
Unknown

Pulmonary interstitial glycogenosis

ORPHA:217557Disease
Not applicable

Pulmonary nodular lymphoid hyperplasia

ORPHA:60026Disease

Pulmonary non-tuberculous mycobacterial infection

ORPHA:411703Disease
Not applicable

Pulmonary venoocclusive disease

ORPHA:31837Disease
Autosomal recessive, Not applicable

Punctate acrokeratoderma freckle-like pigmentation

ORPHA:99710Disease

Punctate inner choroidopathy

ORPHA:580951Disease

Punctate palmoplantar keratoderma type 1

ORPHA:79501Disease
Autosomal dominant

Punctate palmoplantar keratoderma type 2

ORPHA:79502Disease
Autosomal dominant

Pure autonomic failure

ORPHA:441Disease
Not applicable

Pure mitochondrial myopathy

ORPHA:254854Disease
Mitochondrial inheritance

Pure squamous carcinoma of the urothelial tract

ORPHA:695023Disease
Not applicable

Purine nucleoside phosphorylase deficiency

ORPHA:760Disease
Autosomal recessive

Pustulosis palmaris et plantaris

ORPHA:163927Disease
Autosomal dominant, Autosomal recessive