Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
thymic-renal-anal-lung dysplasia	MONDO_0010129	[This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.]
serum alpha-1-antitrypsin measurement	EFO_0005415	[quantification of the protease inhibitor alpha-1-antitrypsin in the blood. The test is used in the diagnosis of early onset emphysema and liver disease.]
alpha globulin measurement	EFO_0004813	[Is a quantification of any of the alpha globulin class of proteins, typically in serum.]
thyrocerebrorenal syndrome	MONDO_0010128	[Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.]
functional impairment measurement	EFO_0005412	[quantification of the effect of persistent interference in daily life activities and role performance by psychiatric conditions or related symptoms, usually established through a combination of medical assessments and questionnaires ]
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	MONDO_0009149	[Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.]
joint damage measurement	EFO_0005413	[quantification of the level of joint damage, eg through radiological analysis]
Rosselli-Gulienetti syndrome	MONDO_0009148	[A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	MONDO_0007124	[Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.]
serum dimethylarginine measurement	EFO_0005418	[quantification of symmetric or asymmetric dimethylarginine in the blood]
contrast sensitivity measurement	EFO_0005419	[quantificiation of ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease.]
ectodermal dysplasia-sensorineural deafness syndrome	MONDO_0009146	[Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.]
serum ST2 measurement	EFO_0005416	[A soluble ST2 measurement is the quantification of the ST2 protein, also known as Interleukin-1 receptor-like 1 or IL1RL1. The protein ST2 levels are associated with adverse cardiovascular events.]
SchC6pf-Schulz-Passarge syndrome	MONDO_0009145	[A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.]
response to mTOR inhibitor	EFO_0005417	[response to treatment with an inhibitor of mTOR (mammalian Target Of Rapamycin), such as everolimus or rapamycin]
obsolete lethal restrictive dermopathy	MONDO_0010143
hypothyroidism due to TSH receptor mutations	MONDO_0010142	[Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.]
tibial hemimelia	MONDO_0010144	[Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.]
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	MONDO_0009150	[Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.]
transcobalamin II deficiency	MONDO_0010149	[Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.]