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

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

ORPHA:444138Disease
Autosomal recessive

Pelizaeus-Merzbacher disease

ORPHA:702Disease
X-linked dominant, X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Disease
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Disease

Pemphigus erythematosus

ORPHA:79480Disease

Pemphigus foliaceus

ORPHA:79481Disease

Pemphigus vegetans

ORPHA:79479Disease

Pemphigus vulgaris

ORPHA:704Disease
Not applicable

Pentosuria

ORPHA:2843Disease
Autosomal recessive

Perifoveal exudative vascular anomalous complex

ORPHA:674930Disease
Unknown

Perihilar cholangiocarcinoma

ORPHA:99978Disease
Not applicable

Periodic fever-immunodeficiency-thrombocytopenia syndrome

ORPHA:652522Disease
Autosomal recessive

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

ORPHA:436166Disease
Autosomal dominant

Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750Disease
Mitochondrial inheritance

Periodic paralysis with transient compartment-like syndrome

ORPHA:397755Disease
Autosomal dominant

Periodontal Ehlers-Danlos syndrome

ORPHA:75392Disease
Autosomal dominant

Perioral myoclonia with absences

ORPHA:139426Disease

Peripartum cardiomyopathy

ORPHA:563Disease
Unknown

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

ORPHA:163746Disease
Autosomal dominant

Peripheral motor neuropathy-dysautonomia syndrome

ORPHA:2400Disease
Unknown

Peripheral primitive neuroectodermal tumor

ORPHA:370348Disease
Not applicable

Peritoneal inclusion cyst

ORPHA:168816Disease
Unknown

Perivascular epithelioid cell neoplasm

ORPHA:595133Disease

Peroxisomal acyl-CoA oxidase deficiency

ORPHA:2971Disease
Autosomal recessive