Rare Disease Library

OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome

Patent urachus

Peripheral pulmonary stenosis

Branch pulmonary artery stenosis · Pulmonary branch stenosis

Persistent combined dystonia

Persistent eustachian valve

Persistent fifth aortic arch

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Persistent idiopathic facial pain

AFP · Atypical facial pain

Persistent left superior vena cava connecting through coronary sinus to left-sided atrium

Persistent left SVC connecting through coronary sinus to left-sided atrium

Persistent left superior vena cava connecting to the roof of left-sided atrium

Persistent left SVC connecting to the roof of left-sided atrium · Persistent left SVC connecting to left-sided atrium

Persistent Müllerian duct syndrome

PMDS · Persistent Müllerian derivatives

Persistent placoid maculopathy

Persistent polyclonal B-cell lymphocytosis

PPBL · Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes

Postencephalitic parkinsonism

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary orthostatic hypotension

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

PTEN hamartoma tumor syndrome

PHTS

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 artery coming from patent ductus arteriosus

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 valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

APV/PDA, non-Fallot type

Rare cause of hypertension

Rare disorder potentially indicated for bowel transplant

Rare disorder potentially indicated for heart transplant

Rare disorder potentially indicated for hematopoietic stem cell transplant

Rare disorder potentially indicated for kidney transplant

Rare disorder potentially indicated for liver transplant

Rare disorder potentially indicated for lung transplant

Rare disorder potentially indicated for transplant

Rare disorder potentially indicated for transplant or complication after transplantation

Rare genetic cause of hypertension

Rare pulmonary hypertension

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Severe disseminated cytomegalovirus infection in immunocompetent patients

Severe disseminated CMV infection in immunocompetent patients

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome