All terms in HP
| Label | Id | Description |
|---|---|---|
| Iris flocculi | HP_0500007 | [Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.] |
| 2-3 finger syndactyly | HP_0001233 | [Syndactyly with fusion of fingers two and three.] |
| 3-4 finger syndactyly | HP_0006097 | [Syndactyly with fusion of fingers three and four.] |
| 1-4 finger syndactyly | HP_0010707 | [Syndactyly with fusion of fingers one to four.] |
| 1-3 finger syndactyly | HP_0010706 | [Syndactyly with fusion of fingers one to three.] |
| 1-5 finger syndactyly | HP_0010708 | [Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).] |
| Abnormal immunoglobulin level | HP_0010701 | [An abnormal deviation from normal levels of immunoglobulins in blood.] |
| Increased antibody level in blood | HP_0010702 | [An increased level of gamma globulin (immunoglobulin) in the blood.] |
| obsolete Total cataract | HP_0010700 | |
| 4-5 finger syndactyly | HP_0010705 | [Syndactyly with fusion of fingers four and five.] |
| 1-2 finger syndactyly | HP_0010704 | [Syndactyly with fusion of fingers one and two.] |
| Moon facies | HP_0500011 | [A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.] |
| Abnormality of gonadotropin-releasing hormone level | HP_0500012 | [A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.] |
| Lack of gonadotropin-releasing hormone pulsatility | HP_0500013 | [Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.] |
| obsolete Abnormal test result | HP_0500014 | |
| Chilblains | HP_0009710 | [Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.] |
| Retinal capillary hemangioma | HP_0009711 | [A benign vascular tumor of the retina without any neoplastic characteristics.] |
| Hemangioblastoma | HP_0010797 | [A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.] |
| obsolete Increased cholesterol esters | HP_0500010 | |
| Abnormal resting energy expenditure from metabolic cart test | HP_0500019 | [Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).] |