Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glycogen storage disease VIII	EFO_1000952	[An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.]
obsolete_scale	EFO_0000960	[Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins.]
giant cell reparative granuloma	EFO_1000950	[A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.]
bone giant cell tumor	EFO_0007176	[A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.]
obsolete_adult segment	EFO_0000961	[One of the repeated divisions of the whole organism.]
obsolete_skin	EFO_0000962
obsolete_tail	EFO_0000963	[Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins., The rear end or a process or prolongation of the rear end of the body of an animal.]
obsolete_head	EFO_0000964	[Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the skull, it is partially surrounded by skin of head. Examples: There is only one head., The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth., Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions., The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix.]
obsolete_meninges	EFO_0000867	[Any of the three membranes that envelop the brain and spinal cord.]
obsolete_bone marrow	EFO_0000868	[The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells.]
obsolete_spleen	EFO_0000869	[A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes.]
Reduced protein S activity	HP_0004855	[An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.]
Abnormality of coagulation	HP_0001928	[An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.]
obsolete_juvenile polyposis of infancy	Orphanet_79076
Intestinal epithelial dysplasia	Orphanet_92050
Genetic intractable diarrhea of infancy	Orphanet_363300
Carboxyhemoglobin to Total Hemoglobin Ratio Measurement	EFO_0009203	[The determination of the ratio of carboxyhemoglobin compared to total hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]]
hemoglobin measurement	EFO_0004509	[hemoglobin levels, Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.]
Corpuscular Hemoglobin Concentration Distribution Width	EFO_0009204	[A measurement of the standard deviation of hemoglobin concentrations in individual red blood cells, calculated as the standard deviation of hemoglobin content divided by the mean hemoglobin content. [ NCI ]]
Fusarium sporotrichioides	NCBITaxon_5514