All terms in HP

Label Id Description
transferrin receptor protein 1 PR_000001945 [A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof.]
Villous atrophy HP_0011473 [The enteric villi are atrophic or absent.]
True anophthalmia HP_0011478 [Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.]
flour treatment agent CHEBI_64577 [A food additive which is added to flour or dough to improve baking quality and/or colour.]
Elevated urinary 2,4-dihydroxyglutarate level HP_6001081 [The amount of 2,4-dihydroxyglutarate in the urine, normalized for urine concentration, is above the upper limit of normal.]
Profound sensorineural hearing impairment HP_0011476 [Complete loss of hearing related to a sensorineural defect.]
Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio HP_6001080 [Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE).]
Upbeat nystagmus HP_0011477 [In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.]
Cerebral hemisphere mass lesion HP_6001083 [An abnormal growth or accumulation of tissue in a hemisphere of the cerebrum. Typically a mass is an initial finding that will lead to additional workup.]
Abnormal urine D-xylose test HP_6001082 [An abnormal result of the xylose absorption test that is used to assess the ability of the intestines to absorb D-xylose. D-xylose is a five-carbon monosaccharide found in some plants. The patient drinks a solution containing a specific amount of D-xylose and the concentration of xylose is measured in the blood circulation and then in the urine. A low amount of D-xylose indicates reduced small intestinal absorbtion.]
Posterior fossa mass lesion HP_6001085 [An abnormal growth or accumulation of tissue in the posterior fossa, affecting the cerebellum or fourth ventricle. Typically a mass is an initial finding that will lead to additional workup.]
T2-hyperintense putaminal rim HP_6001084 [Increased signal on T2 magnetic resonance imaging characterized by a linear region of high signal surrounding the lateral aspect of the putamen at 1.5 Tesla.]
Irregular P-P interval HP_6001087 [Abnormally increased variability in the timing between consecutive P-waves on an electrocardiogram.]
Nasogastric tube feeding in infancy HP_0011470 [Feeding problem necessitating nasogastric tube feeding.]
Irregular RR interval HP_6001086 [Abnormal increased variability in the timing between consecutive R-waves on an electrocardiogram.]
Gastrostomy tube feeding in infancy HP_0011471 [Feeding problem necessitating gastrostomy tube feeding.]
Long hairstyle HP_6001089 [A past medical history of having long, full hair.]
tumor necrosis factor ligand superfamily member 5 proteolytic cleavage product PR_000018606 [A tumor necrosis factor ligand superfamily member 5 that has been processed by proteolytic cleavage.]
tumor necrosis factor ligand superfamily member 5 PR_000001950 [A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof.]
Fungal hair infection HP_6001088 [Demonstration of fungi growing on hair by a method such as microscopy of hairs mounted on slides with 10% potassium hydroxide.]