MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

ORPHA:53583Disease
Autosomal dominant

Paroxysmal exertion-induced dyskinesia

ORPHA:98811Disease
Autosomal dominant, Not applicable

Paroxysmal extreme pain disorder

ORPHA:46348Disease
Autosomal dominant

Paroxysmal hemicrania

ORPHA:157835Disease
Not applicable

Paroxysmal kinesigenic dyskinesia

ORPHA:98809Disease
Autosomal dominant, Not applicable

Paroxysmal nocturnal hemoglobinuria

ORPHA:447Disease
Not applicable

Paroxysmal non-kinesigenic dyskinesia

ORPHA:98810Disease
Autosomal dominant, Not applicable

Partial androgen insensitivity syndrome

ORPHA:90797Disease
X-linked recessive

Partial atrioventricular septal defect

ORPHA:1330Morph.
Not applicable

Partial atrioventricular septal defect with ventricular hypoplasia

ORPHA:576232Clin. sub.
Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Clin. sub.
Not applicable

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

ORPHA:401959Malform.
Autosomal recessive

Partial cryptophthalmia

ORPHA:98950Clin. sub.

Partial deep dermal and full thickness burns

ORPHA:90076Situation
Not applicable

Partial deletion of the short arm of chromosome 7 syndrome

ORPHA:261911Cat.

Partial duplication of the long arm of chromosome 14 syndrome

ORPHA:262941Cat.

Partial hydatidiform mole

ORPHA:254693Clin. sub.
Not applicable

Partial pancreatic agenesis

ORPHA:2805Morph.
Autosomal recessive

Partially involuting congenital hemangioma

ORPHA:458785Disease
Not applicable

Partington syndrome

ORPHA:94083Malform.
X-linked recessive

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190Malform.
Autosomal dominant

Patent urachus

ORPHA:431341Morph.
Not applicable

Paternal 20q13.2q13.3 microdeletion syndrome

ORPHA:261304Malform.
Not applicable

Paternal uniparental disomy of chromosome 1 syndrome

ORPHA:251004Malform.
Not applicable, Unknown