Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
otopalatodigital syndrome type 2	MONDO_0010571	[Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.]
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	MONDO_0009581	[Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.]
syndromic X-linked intellectual disability 5	MONDO_0010574	[X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.]
intellectual disability, autosomal recessive 1	MONDO_0009580	[Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.]
X-linked mixed hearing loss with perilymphatic gusher	MONDO_0010576	[X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.]
X-linked nonsyndromic hearing loss	MONDO_0019586	[X-linked form of nonsyndromic deafness.]
deafness-hypogonadism syndrome	MONDO_0010575	[This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.]
gastric adenosquamous carcinoma	EFO_1000029	[A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.]
deafness dystonia syndrome	MONDO_0010578	[Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.]
triacylglycerol 50:1	CHEBI_84665	[A triglyceride in which the three acyl groups contain a total of 50 carbons and 1 double bond.]
obsolete_hepatoerythropoietic porphyria	Orphanet_95159
craniofrontonasal syndrome	MONDO_0010570	[Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.]
gastric tubular adenocarcinoma	EFO_1000030	[A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.]
tubular adenocarcinoma	EFO_0006500	[An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.]
obsolete_genetic disease	EFO_1000031
O-oleoylcarnitine	CHEBI_72689	[An O-acylcarnitine having oleoyl as the acyl substituent.]
Nitrosomonas europaea	NCBITaxon_915
obsolete_lung mucoepidermoid carcinoma	EFO_1000038	[A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells]
triacylglycerol 50:2	CHEBI_84662	[A triglyceride in which the three acyl groups contain a total of 50 carbons and 2 double bonds.]
X-linked complicated corpus callosum dysgenesis	MONDO_0010569	[X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.]