All terms in HP

Label Id Description
Onychauxis HP_0012542 [Thickened nails without deformity.]
Onychogryphosis HP_0001805 [Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.]
Cephalohematoma HP_0012541 [Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.]
Abnormal delivery HP_0001787 [An abnormality of the birth process.]
Axillary epidermoid cyst HP_0012540 [An epidermoid cyst in the armpit.]
Epidermoid cyst HP_0200040 [Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present.]
Skewed maternal X inactivation HP_0012546 [A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.]
Reduced circulating aldolase concentration HP_0012545 [Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.]
Elevated circulating aldolase concentration HP_0012544 [Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.]
Hemosiderinuria HP_0012543 [The presence of hemosiderin in the urine.]
Microphthalmia HP_0000568 [A developmental anomaly characterized by abnormal smallness of one or both eyes.]
Aplasia/Hypoplasia affecting the eye HP_0008056
detection of chemical stimulus GO_0009593 [The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal.]
Telecanthus HP_0000506 [Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.]
Conjunctivitis HP_0000509 [Inflammation of the conjunctiva.]
Red eye HP_0025337 [A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.]
Tortuosity of conjunctival vessels HP_0000503 [The presence of an increased number of twists and turns of the conjunctival blood vessels.]
Abnormal morphology of the conjunctival vasculature HP_0008054 [Any abnormality of the blood vessels of the conjunctiva.]
Rod-cone dystrophy HP_0000510 [An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.]
Vertical supranuclear gaze palsy HP_0000511 [A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.]