Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Delayed puberty	HP_0000823	[Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.]
Growth delay	HP_0001510	[A deficiency or slowing down of growth pre- and postnatally.]
Decreased response to growth hormone stimulation test	HP_0000824	[Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.]
Abnormal circulating hormone concentration	HP_0003117	[An abnormal concentration of a hormone in the blood.]
candesartan	CHEBI_3347	[A benzimidazolecarboxylic acid that has formula C24H20N6O3., A chromosome band present on 10p]
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	Orphanet_53583
gibberellin A3	CHEBI_28833
obsolete_central congenital hypothyroidism	Orphanet_226298
GM17823	CLO_0016515	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17825	CLO_0016517	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17824	CLO_0016516	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
peroxisomal single enzyme/protein defect	MONDO_0100257	[Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.]
GM17833	CLO_0016519	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
acute myeloid leukemia, inv(16)(p13.1;q22)	MONDO_0100373	[Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)]
GM17826	CLO_0016518	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
acute myeloid leukemia, t(16;16)(p13.1;q22)	MONDO_0100374	[Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)]
acute myeloid leukemia, t(15;17)(q24;q21)	MONDO_0100375	[Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)]
acute myeloid leukemia, t(9;11)(p21.3;q23.3)	MONDO_0100376	[Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)]
acute myeloid leukemia, t(10;11)(p12;q23)	MONDO_0100377	[Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)]
acute myeloid leukemia, t(10;11)(p11.2;q23)	MONDO_0100378	[Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)]