Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
isolated constitutional thrombocytopenia	MONDO_0018796
noise exposure measurement	EFO_0600015	[Quantification of some aspect of noise exposure, such as occupational levels.]
emodin glucuronidation measurement	EFO_0600010	[Quantification of emodin metabolisation via the glucuronidation pathway.]
hepatotoxicity	EFO_0011052	[Toxicity that causes injury to the liver or impairs the liver function. Usually caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and some medicinal plants. This can include cholestasis, liver injury, hepatitis, jaundice. ]
obsolete_severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Orphanet_397593
obsolete_Activated PIK3-delta syndrome	Orphanet_397596
S100 calcium-binding protein B measurement	EFO_0600012	[The quantification of S100 calcium-binding protein B in a sample.]
Gaucher disease type 2	Orphanet_77260	[Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.]
Parkinson's disease symptom measurement	EFO_0600011	[Quantification of some aspect of Parkinson's disease symptoms such as their frequency, severity or ratio.]
Heterorhabditis bacteriophora	NCBITaxon_37862
Gaucher disease type 3	Orphanet_77261	[Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).]
disseminated chorioretinitis	MONDO_0004657
chorioretinitis	MONDO_0004674	[Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.]
obsolete_familial apolipoprotein C-II deficiency	Orphanet_309020
obsolete_mevalonate kinase deficiency	Orphanet_309025
acute myeloid leukemia, KIT gene mutation	MONDO_0100420	[Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)]
acute myeloid leukemia, GATA1 gene mutation	MONDO_0100421	[Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)]
smallpox	MONDO_0004651	[A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.]
acute myeloid leukemia, RUNX1 gene mutation	MONDO_0100422	[Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)]
acute myeloid leukemia, PTPN11 gene mutation	MONDO_0100423	[Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)]