MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Plasmacytoma

ORPHA:86855Disease
Not applicable

Plastic bronchitis

ORPHA:439881Situation

Platyspondylic dysplasia, Torrance type

ORPHA:85166Malform.
Autosomal dominant

Plectin-related limb-girdle muscular dystrophy R17

ORPHA:254361Disease
Autosomal recessive

Pleomorphic liposarcoma

ORPHA:99969Hist. sub.
Not applicable

Pleomorphic rhabdomyosarcoma

ORPHA:293199Clin. sub.
Not applicable

Pleomorphic xanthoastrocytoma

ORPHA:251607Disease
Not applicable

Pleural empyema

ORPHA:449266Situation
Not applicable

Pleural mesothelioma

ORPHA:50251Disease
Not applicable

Pleuro-pericardial cyst

ORPHA:99131Morph.
Not applicable

Pleuropulmonary blastoma

ORPHA:64742Disease
Autosomal dominant, Not applicable

Plummer-Vinson syndrome

ORPHA:54028Disease
Unknown

Pneumocystosis

ORPHA:723Disease
Not applicable

Pneumonia caused by Pseudomonas aeruginosa infection

ORPHA:90066Situation
Not applicable

Poikiloderma with neutropenia

ORPHA:221046Disease
Autosomal recessive

Poirier-Bienvenu neurodevelopmental syndrome

ORPHA:689397Malform.
Autosomal recessive

Poland syndrome

ORPHA:2911Malform.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

Poliomyelitis

ORPHA:2912Disease
Not applicable

Polyarteritis nodosa

ORPHA:767Disease
Not applicable

Polyclonal hyperviscosity syndrome

ORPHA:450322Clinical syndrome
Not applicable

Polycythemia vera

ORPHA:729Disease
Not applicable

Polydactyly of a biphalangeal thumb and/or hallux

ORPHA:93339Morph.
Autosomal dominant

Polydactyly of a triphalangeal thumb

ORPHA:93336Morph.
Autosomal dominant

Polydactyly of an index finger

ORPHA:93337Morph.
Autosomal dominant