All terms in HP_DEV

Label Id Description
Rhizomelic arm shortening HP_0004991 [Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).]
Rhizomelia HP_0008905 [Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).]
Paroxysmal drowsiness HP_0002330 [A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep]
Epiphyseal streaking HP_0004990
Abnormal epiphysis morphology HP_0005930 [An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.]
N-isobutyrylglycine CHEBI_70979 [An N-acylglycine in which the acyl group is specified as isobutryl.]
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.]
Intellectual disability, moderate HP_0002342 [Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.]
Intellectual disability HP_0001249 [Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.]
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.]