Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myelodysplastic/myeloproliferative disease	MONDO_0020077	[Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.]
X-10510-to-palmitoyl sphingomyelin ratio	EFO_0021398	[Quantification of the ratio of X-10510 to palmitoyl sphingomyelin in a sample.]
chromosome-defective micronuclei	EFO_1001778	[Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.]
Charcot-Marie-Tooth disease type 1C	MONDO_0010995	[Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.]
arachidonate 20:4n6-to-1-arachidonoylglycerophosphoinositol ratio	EFO_0021397	[Quantification of the ratio of arachidonate 20:4n6 to 1-arachidonoylglycerophosphoinositol in a sample.]
X-11820-to-cholesterol ratio	EFO_0021392	[Quantification of the ratio of X-11820 to cholesterol in a sample.]
Lotus japonicus	NCBITaxon_34305
Hypodipsia	HP_0025382	[Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.]
aspartylphenylalanine-to-X-14450--phenylalanylleucine ratio	EFO_0021391	[Quantification of the ratio of aspartylphenylalanine to X-14450--phenylalanylleucine in a sample.]
obsolete_congenital sucrase-isomaltase deficiency with minimal starch tolerance	Orphanet_306446
phakomatosis cesiomarmorata	MONDO_0019326
ADSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio	EFO_0021394	[Quantification of the ratio of ADSGEGDFXAEGGGVR to ADpSGEGDFXAEGGGVR in a sample.]
phakomatosis cesioflammea	MONDO_0019325
X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio	EFO_0021393	[Quantification of the ratio of X-11440 to 4-androsten-3beta,17beta-diol disulfate 2 in a sample.]
obsolete_17q11.2 microduplication syndrome	Orphanet_139474	[17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.]
lysine-to-glutaroyl carnitine ratio	EFO_0021390	[Quantification of the ratio of lysine to glutaroyl carnitine in a sample.]
atypical Werner syndrome	MONDO_0019321	[A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.]
Chylothorax	EFO_1001780	[The presence of chyle in the thoracic cavity. (Dorland, 27th ed)]
desmoplastic infantile astrocytoma	MONDO_0022963	[A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)]
obsolete colchicine resistance	MONDO_0007348