Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Occipital encephalocele	HP_0002085	[A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.]
Contracture of the distal interphalangeal joint of the 3rd toe	HP_0100353	[The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.]
Contracture of the distal interphalangeal joint of the 4th toe	HP_0100354	[The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.]
Contractures of the distal interphalangeal joint of the 5th toe	HP_0100355	[The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.]
Contracture of the metatarsophalangeal joint of the 2nd toe	HP_0100356	[The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.]
Contracture of the metatarsophalangeal joint of the 3rd toe	HP_0100357	[The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.]
Contracture of the metatarsophalangeal joint of the 4th toe	HP_0100358	[The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.]
Migraine without aura	HP_0002083	[Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.]
Contracture of the metatarsophalangeal joint of the 5th toe	HP_0100359	[The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.]
negative regulation of circadian sleep/wake cycle, REM sleep	GO_0042322	[Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep.]
negative regulation of circadian sleep/wake cycle, sleep	GO_0042321	[Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.]
vitamin D metabolic process	GO_0042359	[The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).]
Rosenthal fibres	HP_0100320	[Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.]
Emphysema	HP_0002097
Aplasia of the pyramidal tract	HP_0100322
Pulmonary arterial hypertension	HP_0002092	[Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.]
Cow milk allergy	HP_0100327	[Hypersensitivity in form of an adverse immune reaction against cow milk protein.]
Tarsometatarsal synostosis	HP_0100329
ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (mouse)	PR_Q6DYE8	[An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of mouse.]
Unilateral cleft lip	HP_0100333	[A non-midline cleft of the upper lip on one side only.]