Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Osteochondritis dissecans	HP_0010886	[A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.]
Osteochondrosis	HP_0040188	[Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.]
Buruli ulcer disease	MONDO_0000327	[A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.]
histiocytoma	EFO_0005561	[A mesenchymal tumor composed of fibroblastic and histiocytic cells.]
osteoarthritis biomarker measurement	EFO_0005890	[osteoarthritis biomarkers, such as serum cartilage oligomeric protein (sCOMP) and urinary C-telopeptide of type II collagen (uCTX-II), are used as indicators for osteoarthritis screening and as predictors for therapeutic responses and prognoses in patients]
cavernous sinus meningioma	MONDO_0002996	[A meningioma that affects the cavernous sinus.]
skull base meningioma	MONDO_0002998	[A meningioma that arises from the skull base.]
Abnormality of the umbilical cord	HP_0010881	[An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.]
obsolete_renal cortex	EFO_0005891	[The renal cortex is the outer portion of the kidney between the renal capsule and the renal medulla. In the adult, it forms a continuous smooth outer zone with a number of projections (cortical columns) that extend down between the pyramids. It contains the renal corpuscles and the renal tubules except for parts of the loop of Henle which descend into the renal medulla. It also contains blood vessels and cortical collecting ducts. The renal cortex is the part of the kidney where ultrafiltration occurs. Erythropoietin is produced in the renal cortex.]
skull base neoplasm	MONDO_0002785	[A benign or malignant neoplasm that affects the skull base.]
ossification of the posterior longitudinal ligament of the spine	EFO_0005895	[A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.]
sphingosine 1-phosphate	CHEBI_37550	[A phosphosphingolipid that has formula C18H38NO5P., Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)]
erythropoietin	EFO_0003233	[Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/ɨˌrɪθrɵˈpɔɪ.ɨtɨn/, /ɨˌrɪθrɵˈpɔɪtən/, or /ɨˌriːθrɵ-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow.]
glycoprotein	CHEBI_17089
small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	MONDO_0002995	[A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.]
multinodular goiter	MONDO_0000334	[Nodular goiter characterized by more than one discrete tissue mass.]
Joubert syndrome with renal defect	MONDO_0012308	[A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.]
follicle stimulating hormone	EFO_0003234
obsolete_gastroesophageal junction	EFO_0005896	[The junction between the stomach and the esophagus; the place where the esophagus connects to the stomach.]
chitin octamer	EFO_0003237