All terms in HP
| Label | Id | Description |
|---|---|---|
| Multifocal seizures | HP_0031165 | [Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).] |
| striated muscle cell | CL_0000737 | [Muscle cell which has as its direct parts myofilaments organized into sarcomeres.] |
| muscle cell | CL_0000187 | [A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns.] |
| Impaired oropharyngeal swallow response | HP_0031162 | [Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.] |
| Low femoral bone density | HP_0031163 | [Reduced bone mineral density of the femur.] |
| Bicuspid aortic valve with right-left cusp fusion | HP_0031119 | [A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.] |
| Single raphe bicuspid aortic valve | HP_0031118 | [A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.] |
| Purely bicuspid aortic valve | HP_0031117 | [A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.] |
| Prominent palmar flexion creases | HP_0006157 | |
| obsolete Finger joint hyperextensibility | HP_0006158 | |
| Ulnar deviation of thumb | HP_0006156 | [Bending or curvature of a thumb towards the ulnar side (towards the ring finger).] |
| Disharmonious carpal bone | HP_0006153 | |
| Abnormally shaped carpal bones | HP_0006014 | |
| Proximal symphalangism | HP_0100264 | |
| Irregular metacarpals | HP_0006160 | [Irregular morphology of one or more metacarpal bones.] |
| Short metacarpals with rounded proximal ends | HP_0006161 | |
| cardiac muscle cell | CL_0000746 | [Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.] |
| Cutaneous hamartoma | HP_0031111 | [A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.] |
| Twin-to-twin transfusion | HP_0031110 | [As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.] |
| Triceps weakness | HP_0031108 | [A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.] |