Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
multiple intestinal atresia	MONDO_0009465	[A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.]
acromesomelic dysplasia 2B	MONDO_0009231
Young syndrome	MONDO_0010220	[Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.]
fibrosclerosis, multifocal	MONDO_0009230
X-linked Opitz G/BBB syndrome	MONDO_0010222	[X-linked form of Opitz G/BBB syndrome.]
Opitz G/BBB syndrome	MONDO_0017138	[Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).]
CHIME syndrome	MONDO_0010221	[CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.]
corpus callosum agenesis-abnormal genitalia syndrome	MONDO_0010224	[Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.]
SRD5A3-CDG	MONDO_0012885	[SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.]
Dent disease type 1	MONDO_0010225	[Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.]
crystal arthropathy	MONDO_0022208
hypogonadotropic hypogonadism 5 with or without anosmia	MONDO_0012880	[Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.]
obsolete_colonic atresia	Orphanet_1198
Congenital atransferrinemia	Orphanet_1195	[Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.]
Constitutional anemia due to iron metabolism disorder	Orphanet_98360
obsolete_Atkin-Flaitz syndrome	Orphanet_1193
secondary carcinoma	MONDO_0024878	[A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.]
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency	Orphanet_1194	[ mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.]
hystidil-tRNA synthetase autoantibody measurement	EFO_0007703	[quantification in a sample of autoantibodies against hystidil-tRNA synthetase, an enzyme which in humans is encoded by the HARS gene]
autoantibody measurement	EFO_0004866	[Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein. e.g. anti-islet autoantibodies.]