All terms in HP
| Label | Id | Description |
|---|---|---|
| Feeding difficulties in infancy | HP_0008872 | [Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.] |
| Sudanophilic leukodystrophy | HP_0003269 | |
| Recurrent parasitic infections | HP_0030885 | [Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.] |
| Argininuria | HP_0003268 | [A increased concentration of arginine in the urine.] |
| Smooth muscle antibody positivity | HP_0003262 | [The presence in serum of antibodies against smooth muscle.] |
| Neonatal hyperbilirubinemia | HP_0003265 | [A type of hyperbilirubinemia with neonatal onset.] |
| Deficiency of N-acetylglucosamine-1-phosphotransferase | HP_0003264 | |
| Abnormality of lysosomal metabolism | HP_0004356 | |
| Hydroxyprolinemia | HP_0003260 | [An increased concentration of hydroxyproline in the blood.] |
| Coronary artery aneurysm | HP_0030882 | [Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.] |
| Femoroacetabular impingement | HP_0030883 | [Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.] |
| Raynaud phenomenon | HP_0030880 | |
| Shoulder impingement | HP_0030881 | [Trapping and compression of the rotator cuff tendons during shoulder movements.] |
| Interlobular septal thickening on pulmonary HRCT | HP_0030879 | [Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.] |
| Pulmonary interstitial high-resolution computed tomography abnormality | HP_0025389 | [High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.] |
| Reduced FEV1/FVC ratio | HP_0030877 | [Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).] |
| Obstructive lung disease | HP_0006536 | [Obstruction of conducting airways of the lung.] |
| Square pelvis bone | HP_0003278 | [An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.] |
| Constricted iliac wings | HP_0003277 | |
| Increased pulmonary capillary wedge pressure | HP_0030876 | [Pulmonary capillary wedge pressure (PCWP) above 15mmHg.] |