Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Brugia pahangi	NCBITaxon_6280
brittle cornea syndrome	MONDO_0009242	[Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.]
fountain syndrome	MONDO_0009241	[Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.]
torsion dystonia 17	MONDO_0012895	[A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.]
formiminoglutamic aciduria	MONDO_0009240	[Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.]
bone fragility with contractures, arterial rupture, and deafness	MONDO_0012892	[A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.]
heterotopia, periventricular, X-linked dominant	MONDO_0010233
periventricular nodular heterotopia	MONDO_0020341	[Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.]
X-linked intellectual disability-psychosis-macroorchidism syndrome	MONDO_0010235
X-linked intellectual disability-plagiocephaly syndrome	MONDO_0010237	[X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.]
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp	Orphanet_163727
congenital factor XI deficiency	MONDO_0012897	[Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.]
factor XI deficiency	MONDO_0020587	[A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.]
Dirofilaria immitis	NCBITaxon_6287
Haemonchus contortus	NCBITaxon_6289
locational disease characteristic	MONDO_0045040
hereditary fructose intolerance	MONDO_0009249	[Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.]
disorder of fructose metabolism	MONDO_0017689
frontofacionasal dysplasia	MONDO_0009247	[Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).]
syndromic ankyloblepharon	MONDO_0020156