Rare Disease Library

Parietal encephalocele

Parietal foramina with clavicular hypoplasia

Parietal foramina with cleidocranial dysplasia

Paris-Trousseau thrombocytopenia

Parkes Weber syndrome

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Parkinsonian-pyramidal syndrome

Pallidopyramidal syndrome

Parkinsonism with polyneuropathy

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

Paroxysmal dyskinesia

Paroxysmal choreoathetosis · Paroxysmal dystonic choreoathetosis

Paroxysmal dystonia

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

Paroxysmal extreme pain disorder

Familial rectal pain

Paroxysmal hemicrania

Paroxysmal hypnogenic dyskinesia

Nocturnal paroxysmal dystonia · Paroxysmal hypnagogic dyskinesia

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Paroxysmal non-kinesigenic dyskinesia

Paroxystic non-kinesigenic choreoathetosis

Partial androgen insensitivity syndrome

PAIS · Partial androgen resistance syndrome

Partial atrioventricular septal defect

PAVC · Partial atrioventricular canal defect

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

Partial bilateral aplasia of the Müllerian ducts

Incomplete bilateral aplasia of the Müllerian ducts

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

Partial cryptophthalmia

Partial deep dermal and full thickness burns

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q