All terms in HP

Label Id Description
Metaphyseal striations HP_0031367 [Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).]
Ankyloblepharon HP_0009755 [Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.]
Popliteal pterygium HP_0009756 [A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).]
Pterygium HP_0001059 [Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.]
Intercrural pterygium HP_0009757 [A pterygium (or pterygia) in the intercrural (groin) region.]
Pyramidal skinfold extending from the base to the top of the nails HP_0009758 [Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.]
Neck pterygia HP_0009759 [Pterygia affecting the neck.]
Segmental peripheral demyelination HP_0007107 [A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.]
Infantile encephalopathy HP_0007105 [Encephalopathy with onset in the infantile period.]
Abnormality of the premaxilla HP_0010758 [An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.]
Elevated CSF hydroxyproline concentration HP_0034723
Prolonged somatosensory evoked potentials HP_0007104
Abnormality of somatosensory evoked potentials HP_0007377 [An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.]
Reduced CSF cystine concentration HP_0034724 [Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.]
Aplasia of the premaxilla HP_0010757 [Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.]
Asymmetry of the maxilla HP_0010755 [Asymmetry between the left and right sides of the maxilla.]
Elevated circulating beta-mannosidase activity HP_0034726 [Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.]
Reduced circulating alpha-L-fucosidase activity HP_0034727 [Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.]
Abnormal circulating alpha-L-fucosidase activity HP_0034728 [Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.]
Progressive ventriculomegaly HP_0007100