Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_infantile neuronal ceroid lipofuscinosis	Orphanet_79263
obsolete_adult neuronal ceroid lipofuscinosis	Orphanet_79262
obsolete_Rare genetic myoclonus	Orphanet_307064
hypoxanthine mesurement	EFO_0010500	[Quantification of hypoxanthine levels in a sample.]
abnormal PAP smear	EFO_0009511	[A finding indicating the presence of abnormal cervical cells in a PAP smear. [ NCI ]]
indole-3-propionate measurement	EFO_0010501	[Quantification of indole-3-propionate levels in a sample.]
obsolete_Sanfilippo syndrome type B	Orphanet_79270
multiple bone fractures	EFO_0009513	[Two or more simultaneous traumatic breaks in one or more bones. [ NCI ]]
Rare genetic disease with myoclonus as a major feature	Orphanet_307067
peripheral nerve injury	EFO_0009510	[Injury to a peripheral nerve.]
device complication	EFO_0009519	[Any problem arising from the use of a medical device. [ NCI ]]
wrist fracture	EFO_0009515	[Traumatic injury to the wrist joint in which the continuity of a wrist bone is broken. Symptoms include wrist pain, swelling, and deformity of wrist. [ NCI ]]
Rare genetic tremor disorder	Orphanet_307061
burn	EFO_0009516	[A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. [ NCI ]]
checkup	EFO_0009517	[A general examination or inspection, especially one carried out by a doctor or dentist. [ NCI ]]
granular eminence	UBERON_2000212
Glycogen storage disease due to glucose-6-phosphatase deficiency type a	Orphanet_79258	[Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).]
Glycogen storage disease due to glucose-6-phosphatase deficiency	Orphanet_364	[Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.]
obsolete_GM1 gangliosidosis type 3	Orphanet_79257	[GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.]
Glycogen storage disease due to glucose-6-phosphatase deficiency type b	Orphanet_79259	[Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).]