Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
atypical Gaucher disease due to saposin C deficiency	MONDO_0012517	[Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.]
ATC Code S Sensory organs	EFO_0005646	[Classification of drugs affecting the sensory organs.]
ATC Code N Nervous system	EFO_0005643	[Classification of drugs affecting the nervous system such as anesthetics.]
ATC Code P Antiparasitic products, insecticides and repellents	EFO_0005644
mandibulofacial dysostosis-microcephaly syndrome	MONDO_0012516	[Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.]
spondylolysis	EFO_0005649	[A defect in the pars interarticularis of a vertebral bone., A bone structure disease that involves a defect in the lumbar vertebral column.]
vertebral disorder	MONDO_0045002	[A disease or disorder that involves the vertebra.]
ATC Code V Various	EFO_0005647	[classification of drugs not specified elsewhere]
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	MONDO_0012519	[Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.]
chromosome 16p13.3 deletion syndrome	MONDO_0022752
1182-4H	EFO_0005648	[This line was haploid when it was established. Like other lines, it may go back in forth in ploidy (by factors of two), depending on the growth conditions and the general health of the cells.]
xeroderma pigmentosum group B	MONDO_0012531	[Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.]
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	MONDO_0012530	[Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.]
46,XX disorder of sex development	MONDO_0017576	[Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.]
1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine	CHEBI_84567	[A phosphatidylcholine 34:3 in which the acyl groups specified at positions 1 and 2 are palmitoleoyl and linoleoyl respectively.]
combined oxidative phosphorylation defect type 4	MONDO_0012534	[Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.]
ovarian clear cell tumor	MONDO_0021144	[A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.]
duodenal neuroendocrine neoplasm	MONDO_0024500	[A neuroendocrine neoplasm that involves the duodenum.]
CEL data file format	EFO_0005630	[CEL data file format describes the format used in a CEL file for storing the results of the intensity calculations on the pixel values of a DAT file. This includes an intensity value, standard deviation of the intensity, the number of pixels used to calculate the intensity value, a flag to indicate an outlier as calculated by the algorithm and a user defined flag indicating the feature should be excluded from future analysis. The file stores the previously stated data for each feature on the probe array.]
data format specification	IAO_0000098	[A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file]