Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lymph node palisaded myofibroblastoma	MONDO_0004528	[A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.]
myofibroblastoma	MONDO_0040675	[A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.]
lymph node neoplasm	MONDO_0024339	[A neoplasm involving a lymph node.]
congenital granular cell tumor	MONDO_0004527	[An instance of granular cell tumor that is present from birth.]
immunoprecipitation assay	OBI_0001700	[An analyte assay in which an input material is mixed with antibodies and bound antigen:antibody complexes are separated out using immunoprecipitation. Either the antibody has known specificy, and the antigen mixture is tested for the presence of a specific antigen, or the antigen solution is well defined and the antibody solution is tested for the presence of antigen specific antibodies.]
Kallmann syndrome-heart disease syndrome	MONDO_0016515	[Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.]
Kenny-Caffey syndrome	MONDO_0016516	[A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.]
isolated punctate palmoplantar keratoderma	MONDO_0016518	[A punctate palmoplantar keratoderma that is not part of a larger syndrome.]
punctate palmoplantar keratoderma	MONDO_0017675	[A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.]
Kabuki syndrome	MONDO_0016512	[Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.]
congenital ectropion	MONDO_0020161
alpha-thalassemia-related diseases	MONDO_0016513	[This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*]
alpha-thalassemia and related diseases	MONDO_0017144
alpha thalassemia	MONDO_0011399	[Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.]
epidermolysis bullosa simplex with anodontia/hypodontia	MONDO_0016514
epibulbar lipodermoid-preauricular appendage-polythelia syndrome	MONDO_0016510	[Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.]
auditory system cancer	MONDO_0004532	[A malignant neoplasm involving the auditory system]
sensory system cancer	MONDO_0000649	[A malignant neoplasm involving the sensory system]
trisomy 9p	MONDO_0016526	[Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.]
glycogen storage disease due to lactate dehydrogenase deficiency	MONDO_0016527