Rare Disease Library

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

Pulmonary agenesis

Pulmonary alveolar microlithiasis

Pulmonary arterial hypertension

PAH · Pulmonary arterial hypertension

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

Pulmonary arterial hypertension associated with connective tissue disease

PAH · PAH associated with connective tissue disease

Pulmonary arterial hypertension associated with HIV infection

PAH · PAH associated with HIV infaction

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

Pulmonary arterial hypertension associated with schistosomiasis

PAH · PAH associated with schistosomiasis

Pulmonary arteriovenous malformation

PAVM

Pulmonary artery coming from patent ductus arteriosus

Pulmonary artery hypoplasia

Unilateral Pulmonary Artery Hypoplasia · PAH

Pulmonary artery or pulmonary branch anomaly

Pulmonary atresia with ventricular septal defect

Pulmonary atresia-intact ventricular septum syndrome

Pulmonary blastoma

Pneumoblastoma

Pulmonary capillary hemangiomatosis

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Pulmonary fungal infections in patients deemed at risk

Pulmonary hypertension owing to lung disease and/or hypoxia

PH due to lung disease and/or hypoxia · PH owing to lung disease and/or hypoxia

Pulmonary hypertension with unclear multifactorial mechanism

PH with unclear multifactorial mechanism

Pulmonary interstitial glycogenosis

Infantile cellular interstitial pneumonitis · PIG

Pulmonary Langerhans cell histiocytosis

Single-system pulmonary Langerhans cell histiocytosis · Single-system pulmonary histiocytosis X

Pulmonary nodular lymphoid hyperplasia

Pulmonary pseudolymphoma

Pulmonary non-tuberculous mycobacterial infection

Non-tuberculous mycobacterial lung disease

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

APV/PDA, non-Fallot type

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

Pulmonary venoocclusive disease

Pulverulent cataract

Dusty cataract · Coppock-like cataract

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

Punctate acrokeratoderma freckle-like pigmentation

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

Punctate palmoplantar keratoderma type 1

Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Pure autonomic failure

Bradbury-Eggleston syndrome · Idiopathic orthostatic hypotension

Pure hair and nail ectodermal dysplasia

HNED · Hair-nail ectodermal dysplasia

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

Pure mitochondrial myopathy

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia