All terms in HP

Label Id Description
N-acylglycine CHEBI_16180 [An N-acyl-amino acid in which amino acid specified is glycine.]
Abnormal caudate nucleus morphology HP_0002339 [Any structural abnormality of the caudate nucleus.]
Abnormal corpus striatum morphology HP_0010994 [Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.]
Head tremor HP_0002346 [An unintentional, oscillating to-and-fro muscle movement affecting head movement.]
Tremor by anatomical site HP_0030188 [Tremor classified by the affected body part.]
Focal aware seizure HP_0002349 [A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.]
Focal-onset seizure HP_0007359 [A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.]
Normal pressure hydrocephalus HP_0002343 [A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.]
Hydrocephalus HP_0000238 [Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.]
Moderate intellectual disability HP_0002342 [Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.]
Intellectual disability HP_0001249 [The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.]
Action tremor HP_0002345 [A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.]
Progressive neurologic deterioration HP_0002344
Cervical cord compression HP_0002341 [Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.]
Spinal cord compression HP_0002176 [External mechanical compression of the spinal cord.]
Caudate atrophy HP_0002340
Atrophy/Degeneration involving the caudate nucleus HP_0007374
L-alloisoleucine CHEBI_43433 [An optically active form of alloisoleucine having L-(2S,3R)-configuration.]
non-proteinogenic L-alpha-amino acid CHEBI_83822 [Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.]
alloisoleucine CHEBI_22359 [A 2-amino-3-methylpentanoic acid having either (2R,3S)- or (2S,3R)-configuration.]