All terms in HP

Label Id Description
Increased CSF taurine concentration HP_0034455 [Increased concentration of taurine in the cerebrospinal fluid (CSF).]
Elevated circulating glutathione concentration HP_0034456 [An abnormally increased level of glutathione in the blood circulation.]
Hawkinsinuria HP_0034457 [The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal.]
Elevated urinary phenylpyruvic acid level HP_0034458 [An abnormally increased amount of phenylpyruvic acid in the urine.]
Decreased phytanic acid:pristanic acid ratio HP_0034450 [A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.]
somatodendritic compartment GO_0036477 [The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon.]
rac-lactic acid CHEBI_28358 [A racemate comprising equimolar amounts of (R)- and (S)-lactic acid.]
Spinal cord calcifications HP_0034484 [The presence of calcium deposition in the spinal cord.]
Neuroepithelial cyst HP_0034485 [A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.]
Neuroepithelial neoplasm HP_0030063 [A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.]
Reduced circulating interleukin 7 concentration HP_0034486 [A diminished concentration of interleukin-7 in the circulation.]
Increased circulating interleukin 12 concentration HP_0034487 [An increased concentration of interleukin-12 in the blood circulation.]
Abnormal circulating interleukin 12 concentration HP_6000442 [Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.]
Increased circulating interleukin 13 concentration HP_0034488 [An increased concentration of interleukin-13 in the blood circulation.]
Increased circulating interleukin 2 concentration HP_0034489 [An increased concentration of interleukin-2 in the blood circulation.]
Absent epididymidis HP_0034480
Atypical gestures HP_0034481 [Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.]
Bone marrow vacuolated lymphocytes HP_0034483 [The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.]
Increased fecal heptacarboxylporphyrin HP_0034473 [Abnormally high concentration of heptacarboxylporphyrin in feces.]
Increased fecal porphyrin HP_0032999 [Abnormally high concentration of fecal porphyrins in feces.]