hereditary hypophosphatemic rickets with hypercalciuria
HUPRA Syndrome
iminoglycinuria
Joubert syndrome 15
Joubert syndrome 9
kyphoscoliotic heart disease
long QT syndrome 1
long QT syndrome 2
long QT syndrome 3
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
methylmalonic aciduria and homocystinuria type cblC
ocular albinism with sensorineural deafness
oculocutaneous albinism type IB
Parkinson's disease 6
persistent fetal circulation syndrome
primary pulmonary hypertension +
A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. (DO)
proteasome-associated autoinflammatory syndrome 1
proteosome-associated autoinflammatory syndrome 3
Pulmonary Arterial Hypertension +
Pulmonary Edema of Mountaineers
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
Pulmonary Hypertension, Hypoxia-Induced
pulmonary venoocclusive disease +
retinitis pigmentosa 7
Rowley-Rosenberg Syndrome
short-rib thoracic dysplasia 7 with or without polydactyly
spinocerebellar ataxia type 17
Usher syndrome type 1D +
Usher syndrome type 2C
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency