All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal adiponectin level | HP_0030684 | [A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.] |
| L-serine zwitterion | CHEBI_33384 | [A serine zwitterion obtained by transfer of a proton from the carboxy to the amino group of L-serine.] |
| serine zwitterion | CHEBI_35243 | [An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amnio group of serine.] |
| Patellar hypoplasia | HP_0003065 | [Underdevelopment of the patella.] |
| Aplasia/Hypoplasia of the patella | HP_0006498 | [Absence or underdevelopment of the patella.] |
| Madelung deformity | HP_0003067 | [An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.] |
| Abnormality of the upper arm | HP_0001454 | |
| Elbow ankylosis | HP_0003070 | |
| Ankylosis | HP_0031013 | [A reduction of joint mobility resulting from changes involving the articular surfaces.] |
| Decreased adiponectin level | HP_0030685 | [A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.] |
| Left ventricular noncompaction | HP_0030682 | [Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.] |
| Abnormal morphology of left ventricular trabeculae | HP_0031192 | [Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).] |
| Vaginitis | HP_0030683 | [Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.] |
| Abnormality of cardiovascular system morphology | HP_0030680 | [Any structural anomaly of the heart and great vessels.] |
| Abnormal morphology of myocardial trabeculae | HP_0030681 | [Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).] |
| Ash-leaf spot | HP_0030679 | [A hypopigmented spot in the shape of a leaf from the mountain ash tree.] |
| Mozart ear | HP_0030677 | [A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.] |
| Defective DNA repair after ultraviolet radiation damage | HP_0003079 | |
| Contracture of proximal interphalangeal joints of 2nd-5th fingers | HP_0030675 | [Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.] |
| Camptodactyly of 2nd-5th fingers | HP_0001215 | [The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.] |