Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
inborn vitamin B12 deficiency	MONDO_0000424	[Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.]
obsolete_IRIDA syndrome	Orphanet_209981	[IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.]
compatible osmolytes role	CHEBI_23366
Factor XIII subunit A deficiency	HP_0040233	[Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.]
Low alkaline phosphatase	HP_0003282	[Abnormally reduced serum levels of alkaline phosphatase.]
isolated thyrotropin-releasing hormone deficiency	MONDO_0010140	[Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.]
obsolete_alternating hemiplegia	Orphanet_209978
obsolete_Summitt syndrome	Orphanet_3210
OVCAR5	EFO_0005443
ovarian cancer cell lines	EFO_0002394	[Cell lines derived from ovarian cancer tissue.]
OVCAR8	EFO_0005444
obsolete_benign familial nocturnal alternating hemiplegia of childhood	Orphanet_209973
DU 145	EFO_0005441	[A cell line derived from human prostate carcinoma. The patient was a 69-year-old male, and the sample was derived from brain metastasis.]
OVCAR4	EFO_0005442
PEO23	EFO_0005447
obsolete_bipartite talus	Orphanet_364198
PEO4	EFO_0005448
isolated thyroid-stimulating hormone deficiency	MONDO_0010139	[Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.]
PEO1	EFO_0005445	[PEO1 is an adherent cell line derived from a malignant effusion from the peritoneal ascites of a patient with a poorly differentiated serous adenocarcinoma. The patient previously received cisplatin, 5-fluorouracil and chlorambucil treatment. PEO1 is tumourigenic in immunologically-deprived CBA mice. PEO1 exhibits good growth in semi-solid medium (agar). PEO1 is from the same patient as the PEO4 and PEO6 cell lines (Sigma Catalogue numbers 10032309 & 10032310).This cell line is one of nine from the PE ovarian adenocarcinoma panel (derived from 4 patients at varying stages of ovarian cancer, isolated from various malignant sites, and at various treatment stages) available at ECACC which provides a model system for research into the mechanism of oestrogen action on ovarian adenocarcinoma tumour cells, and for the study of efficacy and toxicity of oestrogen protagonists. (Sigma-Aldrich catalog number 10032308)]
obsolete_fountain syndrome	Orphanet_3219