Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
calcium oxalate urolithiasis	EFO_0009065	[Urolithiasis in which the composition of the stones is predominantly calcium oxalate.]
alloxanthine	CHEBI_28315	[A pyrazolopyrimidine that is 4,5,6,7-tetrahydro-H-pyrazolo[3,4-d]pyrimidine substituted by oxo groups at positions 4 and 6.]
clcn4-related disorder	EFO_0009066	[X-linked intellectual disability and epilepsy associated with variants in the CLCN4 gene.]
Cowden disease	MONDO_0016063
PTEN hamartoma tumor syndrome	MONDO_0017623	[A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.]
intestinal polyposis syndrome	MONDO_0015185
Spinocerebellar ataxia type 43	EFO_0009060	[Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).]
GM15590	CLO_0028103	[DNA POLYMORPHISM DISCOVERY RESOURCE COLLECTION]
cleft palate	MONDO_0016064	[Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.]
orofacial cleft	MONDO_0000358
TELO2-related intellectual disability-neurodevelopmental disorder	EFO_0009061	[Disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement.]
cleft palate-short stature-vertebral anomalies syndrome	MONDO_0016065	[Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.]
Temple-Baraitser syndrome	EFO_0009062	[Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.]
larynx anomaly	MONDO_0015504
non-syndromic esophageal malformation	MONDO_0015207	[A esophageal malformation that is not part of a larger syndrome.]
non-syndromic respiratory or mediastinal malformation	MONDO_0015221	[A respiratory or mediastinal malformation that is not part of a larger syndrome.]
Fluidigm C1-based library preparation	EFO_0010058	[Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol.]
immunodeficiency with factor H anomaly	MONDO_0016061
complement factor H deficiency	MONDO_0012350
cerebral microbleeds	EFO_0010059	[Cerebral microbleeds are a group of pathological processes affecting the small arteries, arterioles, capillaries and venules of the brain, as detected by brain imaging techniques. They can be detected in the normal aging population as well as in patients with cerebrovascular disease and are associated with increased risk of dementia and stroke.]