Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acute myeloid leukemia, t(1;22)	MONDO_0100394	[Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)]
acute myeloid leukemia, t(5;11)(q35;p15)	MONDO_0100395	[Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)]
acute myeloid leukemia, t(7;12)(q36;p13)	MONDO_0100396	[Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)]
acute myeloid leukemia, t(9;22)(q34.1;q11.2)	MONDO_0100397	[Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)]
Hypergonadotropic hypogonadism	HP_0000815	[Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.]
acute myeloid leukemia, inv(3)(q21.3;q26.2)	MONDO_0100398	[Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)]
acute myeloid leukemia, t(3;3)(q21.3;q26.2)	MONDO_0100399	[Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)]
Poor eye contact	HP_0000817	[Difficulty in looking at another person in the eye.]
Abnormal nonverbal communicative behavior	HP_0000758	[Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures.]
obsolete_infantile glycine encephalopathy	Orphanet_289860
Abnormality of the thyroid gland	HP_0000820	[An abnormality of the thyroid gland.]
Anisometropia	HP_0012803	[Inequality of refractive power of the two eyes.]
O-propanoylcarnitine	CHEBI_28867	[An O-acylcarnitine compound having propanoyl as the acyl substituent.]
Disorder of ornithine metabolism	Orphanet_289869
diltiazem	CHEBI_101278
tobramycin	CHEBI_28864	[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)]
Disorder of proline metabolism	Orphanet_289866
obsolete_atypical glycine encephalopathy	Orphanet_289863
glutathione	CHEBI_16856	[GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals., A tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine.]
nucleic acid hybridization	OBI_0302903	[A process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity., a planned process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity.]