Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cholestasis	MONDO_0001751	[Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.]
Non-Neoplastic Bile Duct Disorder	EFO_1000400	[A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.]
obsolete_beta-thalassemia and related diseases	Orphanet_275749
eyelid neoplasm	EFO_1000934	[Tumors of cancer of the EYELIDS., A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.]
eyelid disease	EFO_0009547	[A disease involving the eyelid.]
euthyroid sick syndrome	EFO_1000931	[Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased., Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.]
extracutaneous mastocytoma	EFO_1000932	[A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003]
systemic mastocytosis	MONDO_0016586	[Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.]
mastocytoma	MONDO_0003079	[A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.]
3-(1H-indol-3-yl)propanoate	CHEBI_82916	[A monocarboxylic acid anion that is the conjugate base of 3-(1H-indol-3-yl)propanoic acid.]
obsolete_distal 7q11.23 microduplication syndrome	Orphanet_261102
3-O-methyldopa	CHEBI_82913	[A L-tyrosine derivative that is the 3-methoxy derivative of L-dopa.]
N-(2-furoyl)glycine	CHEBI_82912	[A glycine derivative that is the carboxamide obtained by the formal condensation of the amino group of glycine with 2-furoic acid.]
furan	CHEBI_35559
freemartinism	EFO_1000939	[A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)., A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric "female"(CHIMERISM).]
sex chromosome disorder of sex development	MONDO_0017975	[Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.]
cattle disease	MONDO_0024913	[Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.]
p-cresol sulfate	CHEBI_82914	[An aryl sulfate that is p-cresol in which the phenolic hydrogen has been replaced by a sulfo group.]
amelogenesis imperfecta, type ij	EFO_0009302	[Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity.]
amelogenesis imperfecta type 1	MONDO_0015047