Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
replicate	EFO_0000683	[A role played by a a biological sample in the context of an experiment where the intent is that biological or technical variation is measured.]
obsolete_hemifacial microsomia	Orphanet_141136
autoimmune disorder of musculoskeletal system	MONDO_0000589	[A hypersensitivity reaction type II disease that involves the musculoskeletal system.]
risk status	EFO_0000686	[The probability that an event will occur generally with unfavorable outcome.]
obsolete_sample factor	EFO_0000687
sampling site	EFO_0000688	[A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample]
obsolete_oculo-auriculo-vertebral spectrum	Orphanet_141132
sampling time	EFO_0000689
congenital myopathy, Paradas type	MONDO_0016049	[Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.]
obsolete_T+ B+ severe combined immunodeficiency	Orphanet_397802
Cushing syndrome	EFO_0003099	[Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland., Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.]
tetragametic chimerism	MONDO_0016045	[Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.]
Estrogen resistance syndrome	EFO_0009042	[Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.]
familial clubfoot with or without associated lower limb anomalies	MONDO_0016046	[Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.]
Familial porphyria cutanea tarda	EFO_0009043	[Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980)., An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.]
porphyria cutanea tarda	MONDO_0015104	[Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.]
inherited porphyria	MONDO_0019142	[Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.]
endophthalmitis	MONDO_0016047	[An infectious process affecting the internal structures of the eye.]
globe disease	MONDO_0001524
Fanconi anemia complementation group A	EFO_0009044	[Fanconi anemia complementation group A is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells.]