All terms in HP

Label Id Description
Cranial nerve motor loss HP_0007097
Reduced hepatic methionine adenosyltransferase activity HP_0034693 [Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.]
Lateral canthal tendon laxity HP_0032030 [Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearance of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.]
Substantia nigra dopaminergic neuron loss HP_0034694 [Degeneration and loss of neurons in the substantia nigra of the brain.]
Intramuscular lipoma HP_0034696 [A lipoma that is located within a muscle.]
Benign muscle neoplasm HP_0031460 [A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].]
Cutaneous telangiectasia HP_0034697 [Dilated blood vessels on the skin.]
Telangiectasia HP_0001009 [Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.]
Elevated aromatase activity HP_0034699 [Enzyme activity of aromatase above the upper limit of normal.]
Mildly reduced visual acuity HP_0032037 [Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.]
Lower eyelid laxity HP_0032035 [Abnormally lax lower eyelid associated with tissue relaxation.]
Upper eyelid laxity HP_0032034 [Abnormally lax upper eyelid associated with tissue relaxation.]
Vertical eyelid laxity HP_0032033 [Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.]
Reduced short-chain acyl-CoA dehydrogenase activity HP_0034690 [Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.]
Horizontal eyelid laxity HP_0032032 [Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.]
Reduced 3-phosphoglycerate dehydrogenase activity HP_0034691 [Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.]
Elongated mitochondria HP_0034692 [Increase in length of mitochondria.]
Medial canthal tendon laxity HP_0032031 [Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.]
BCGitis HP_0020086 [Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.]
BCGosis HP_0020087 [Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.]