All terms in HP
| Label | Id | Description |
|---|---|---|
| Anticentromere antibody positivity | HP_0030873 | [The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.] |
| Coxa magna | HP_0003279 | [Widening of the femoral head and neck.] |
| Oxygen desaturation on exertion | HP_0030874 | [Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.] |
| fumarate hydratase activity | GO_0004333 | [Catalysis of the reaction: (S)-malate = fumarate + H(2)O.] |
| Hypoplastic acetabulae | HP_0003274 | [Underdeveloped acetabulae.] |
| Hip contracture | HP_0003273 | |
| Pelvic bone exostoses | HP_0003276 | [A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.] |
| Narrow pelvis bone | HP_0003275 | [Reduced side to side width of the pelvis.] |
| Euteleostomi | NCBITaxon_117571 | |
| Abdominal distention | HP_0003270 | [Distention of the abdomen.] |
| Facet joint arthrosis | HP_0030871 | [Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.] |
| Abnormality of spinal facet joint | HP_0030870 | [An anomaly of the small joints located between and behind adjacent vertebrae.] |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | HP_0003205 | [An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.] |
| Intracellular accumulation of autofluorescent lipopigment storage material | HP_0003204 | [The intracellular accumulation of autofluorescent storage material.] |
| Mizuo phenomenon | HP_0030824 | [Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].] |
| Absent foveal reflex | HP_0030825 | [Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.] |
| Opposable triphalangeal thumb | HP_0005866 | [A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.] |
| Triphalangeal thumb | HP_0001199 | [A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.] |
| Hooded upper eyelid | HP_0030822 | [Upper eyelid partly covered by skin when eyes are open.] |
| Hooded eyelid | HP_0030820 | [Eyelid partly covered by skin when eyes are open.] |