Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acute myeloid leukemia, t(1;11)(q21;q23)	MONDO_0100379	[Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)]
obsolete Glucose intolerance	HP_0000833
GM17818	CLO_0016511	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Abnormality of the adrenal glands	HP_0000834	[Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.]
GM17817	CLO_0016510	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
Hyperinsulinemia	HP_0000842	[An increased concentration of insulin in the blood.]
Abnormal glucose homeostasis	HP_0011014	[Abnormality of glucose homeostasis.]
axilla	UBERON_0009472	[The axilla is the area directly under the joint where the forelimb connects to the shoulder.]
obsolete_permanent congenital hypothyroidism	Orphanet_226292
obsolete_clinical modifier	HP_0012823
5-amino-1-(5-phospho-D-ribosyl)imidazole	CHEBI_28843
obsolete_primary congenital hypothyroidism	Orphanet_226295
GM17840	CLO_0016524	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
choline alfoscerate	CHEBI_16870	[A member of the class of phosphocholines that is the choline ester of sn-glycero-3-phosphate. It is one of the major osmolyte in the renal medullary cells.]
GM17839	CLO_0016523	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17838	CLO_0016526	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
acute myeloid leukemia, t(4;11)(q21;q23)	MONDO_0100380	[Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)]
GM17837	CLO_0016525	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
acute myeloid leukemia, t(6;11)(q27;q23)	MONDO_0100381	[Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)]
GM17827	CLO_0016528	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]