Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
fetal anticonvulsant syndrome	MONDO_0018262
toxic or drug-related embryofetopathy	MONDO_0016677	[Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.]
obsolete_anomaly of puberty or/and menstrual cycle of genetic origin	Orphanet_202940
glossodynia	MONDO_0043237	[Painful sensations in the tongue, including a sensation of burning.]
obsolete_syndromic microphthalmia	Orphanet_202948
congenital muscular dystrophy without intellectual disability	MONDO_0018279
disorder of O-mannosylglycan synthesis	MONDO_0017745
muscular dystrophy-dystroglycanopathy	MONDO_0018276
congenital muscular dystrophy with intellectual disability	MONDO_0018278
GM3 synthase deficiency	MONDO_0018274	[GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.]
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	MONDO_0017748
skin pigmentation disorder	MONDO_0019288	[A pigmentation disease that involves the zone of skin.]
Cafeteria roenbergensis	NCBITaxon_33653
congenital muscular dystrophy with cerebellar involvement	MONDO_0018277
mitochondrial complex II deficiency, nuclear type	MONDO_0031230
congenital muscular dystrophy	MONDO_0019950	[A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.]
peripheral primitive neuroectodermal tumor	MONDO_0018271	[A small round cell tumor with neural differentiation arising from the soft tissues or bone.]
primitive neuroectodermal tumor	EFO_0005235	[A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.]
Ewing sarcoma/peripheral primitive neuroectodermal tumor	MONDO_0021038	[A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.]
Trypanosoma brucei brucei	NCBITaxon_5702