All terms in HP

Label Id Description
Somatosensory-induced seizure HP_0020213 [A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.]
Severe demyelination of the white matter HP_0007258 [A severe loss of myelin from nerve fibers in the central nervous system.]
Maternal obesity during pregnancy HP_0034855 [A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient.]
Maternal amniocentesis HP_0034856 [A history of amniocentesis having been performed in the mother of a fetus or index patient.]
Typified by highly variable age of onset HP_0034857 [Description of conditions in which age of onset is highly variable even in family members who share the same disease-associated variant or variants.]
Reduced tissue beta-glucuronidase activity HP_0034859 [Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.]
Type II lissencephaly HP_0007260 [A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.]
Lissencephaly HP_0001339 [A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.]
Fetal cyclophosphamide exposure HP_0034850 [A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide.]
Fetal metronidazole exposure HP_0034851 [A history of exposure during pregnancy of the mother of a fetus or child to metronidazole.]
Fetal phenobarbital exposure HP_0034852 [A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital.]
Fetal phenytoin exposure HP_0034853 [A history of exposure during pregnancy of the mother of a fetus or child to phenytoin.]
Periumbilical HP_0034854 [Applies to an abnormality whose distribution and appearance are located at or near the umbilicus (belly button).]
Startle-induced seizure HP_0020214 [Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.]
Thinking-induced seizure HP_0020215 [Seizures induced by thinking and decision-making.]
Focal aware motor seizure HP_0020217 [A type of focal motor seizure in which awareness is retained throughout the seizure.]
Focal aware atonic seizure HP_0020218 [A type of focal atonic seizure during which awareness is fully retained throughout.]
Scattered lymph node individual epithelioid histiocytes HP_0020240 [Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node.]
Increased lymph-node epithelioid histiocyte count HP_0020239 [Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal.]
Clustered lymph node epithelioid histiocytes HP_0020241 [Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node.]