Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
feeling miserable measurement	EFO_0009598	[Quantification of whether an individual feels or felt miserable.]
alpha fetoprotein measurement	EFO_0010583	[Quantification of the amount of alpha fetoprotein in a sample, typically serum]
blastic plasmacytoid dendritic cell neoplasm	EFO_0010580	[A clinically aggressive neoplasm derived from the precursors of plasmacytoid dendritic cells (also called professional type I interferon-producing cells or plasmacytoid monocytes), with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. (WHO 2017) [ NCI ], An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.]
myeloid neoplasm	EFO_0002427	[Proliferation of myeloid cells originating from a primitive stem cell.]
T-cell non-Hodgkin lymphoma	MONDO_0015760	[A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003]
COACH syndrome 1	MONDO_0008996	[A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).]
Joubert syndrome and related disorders	MONDO_0015369	[Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.]
disorder of development or morphogenesis	MONDO_0021147	[Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.]
COACH syndrome	MONDO_0100349	[A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.]
organophosphate poisoning	EFO_0010581	[Poisoning due to organophosphates (a class of organophosphorus compounds also known as phosphate esters, or OPEs). Organophosphates are used as insecticides, medications, and nerve agents. Symptoms include increased saliva and tear production, diarrhea, vomiting, small pupils, sweating, muscle tremors, and confusion.]
torus lateralis	UBERON_2000294
caudal tuberculum	UBERON_2000633
diencephalon	UBERON_0001894	[The division of the forebrain that develops from the foremost primary cerebral vesicle.]
Yunis-Varon syndrome	MONDO_0008995	[Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.]
skeletal dysplasia	MONDO_0018230	[Any Mendelian diseases that affects growth and development of the skeleton.]
cleft palate-stapes fixation-oligodontia syndrome	MONDO_0008993	[Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.]
Juberg-Hayward syndrome	MONDO_0008992	[Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.]
orofacial clefting syndrome	MONDO_0015335
Verloove Vanhorick-Brubakk syndrome	MONDO_0008991	[Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.]
cleft larynx, posterior	MONDO_0008990