All terms in HP

Label Id Description
Progressive congenital scoliosis HP_0008458 [A progressive form of scoliosis with congenital onset.]
Lower extremity hypokinesia HP_0033414 [Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.]
Caudal interpedicular narrowing HP_0008457 [Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.]
Narrow vertebral interpedicular distance HP_0008450 [A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.]
C2-C3 subluxation HP_0008456 [A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.]
Dysplastic sacrum HP_0008455 [A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.]
Congenital kyphoscoliosis HP_0008453
Wafer-thin platyspondyly HP_0008452
Severe platyspondyly HP_0004565
Posterior vertebral hypoplasia HP_0008451
Hypoplastic spinal processes HP_0008460
Upper extremity hypokinesia HP_0033413 [Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.]
Upper extremity akinesia HP_0033412 [Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.]
Lower extremity akinesia HP_0033411 [Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.]
acinar cell CL_0000622 [A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).]
Elevated circulating cartilage oligomeric matrix protein concentration HP_0033410 [An increased blood concentration of cartilage oligomeric matrix protein (COMP).]
olfactory granule cell CL_0000626 [A granule cell that has a soma located in an olfactory bulb granule cell layer. An olfactory granule cell is an interneuron that lacks an axon, makes reciprocal dendro-dendritic synapses with mitral cells and tufted cells and is involved in the fine spatio-temporal tuning of the responses of these principal olfactory bulb neurons to odors.]
olfactory bulb interneuron CL_1001434 [A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons]
Elevated urinary 2-hydroxybutyric acid HP_0033409 [An increased amount of 2-hydroxybutyric acid in the urine.]
Elevated circulating acetoacetic acid concentration HP_0033408 [An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.]