All terms in HP
| Label | Id | Description |
|---|---|---|
| 2-4 toe cutaneous syndactyly | HP_0005768 | [A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.] |
| Increased carrying angle | HP_0003102 | [An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.] |
| Tetraphocomelia | HP_0030721 | [Phocomelia involving all four extremities.] |
| Disproportionate shortening of the tibia | HP_0005766 | |
| Ectopic liver | HP_0030722 | [Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.] |
| Polyarticular arthritis | HP_0005764 | |
| Subchorionic septal cyst | HP_0030720 | [Cyst on the surface of the placenta consisting of amnion and chorion.] |
| Frontoethmoidal meningocele | HP_0030729 | [A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.] |
| Intracranial neurenteric cyst | HP_0030727 | [A neurenteric cyst located within the skull.] |
| Meromelia | HP_0030728 | [Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.] |
| onium betaine | CHEBI_35281 | [Neutral molecules having charge-separated forms with an onium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom.] |
| ammonium betaine | CHEBI_35284 | [Any neutral molecule having charge-separated forms with a quaternary ammonium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom.] |
| quaternary nitrogen compound | CHEBI_26469 | [A nitrogen molecular entity that is electronically neutral but which contains a quaternary nitrogen.] |
| monovalent inorganic cation | CHEBI_60242 | [An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one.] |
| Subchorionic thrombohematoma | HP_0030714 | [A large maternal clot that separates the chorionic plate from the villous chorion.] |
| Bronchial atresia | HP_0030715 | [A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.] |
| Uterine synechiae | HP_0030712 | [Adhesions or scar tissue that form inside the cavity of the uterus.] |
| Increased circulating cortisol level | HP_0003118 | [Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.] |
| Abnormality of circulating cortisol level | HP_0011731 | [An abnormality of the concentration of cortisol in the blood.] |
| Vein of Galen aneurysmal malformation | HP_0030713 | [Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.] |