Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Kniest dysplasia	Orphanet_485
ventilator-associated pneumonia	EFO_1001865	[Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS).]
uterine prolapse	EFO_1001864	[Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice.]
pelvic organ prolapse	EFO_0004710	[Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence., Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.]
obsolete_congenital high-molecular-weight kininogen deficiency	Orphanet_483
Uterine Inertia	EFO_1001863	[Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony.]
methotrexate	CHEBI_44185	[A pteridine that has formula C20H22N8O5.]
urinary bladder fistula	EFO_1001862	[An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ.]
obsolete_muscle-eye-brain disease with bilateral multicystic leucodystrophy	Orphanet_370997
Autosomal dominant limb-girdle muscular dystrophy type 1D	Orphanet_34516	[Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.]
obsolete_Kennedy disease	Orphanet_481	[Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.]
traumatic diaphragmatic hernia	EFO_1001861	[The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN.]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I	Orphanet_34515
obsolete_Kearns-Sayre syndrome	Orphanet_480	[Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.]
thymus hyperplasia	EFO_1001860	[Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2G	Orphanet_34514
pancreatic epsilon cell	CL_0005019	[Ghrelin secreting cells found in the endocrine pancreas.]
endocrine cell	CL_0000163	[A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions.]
congenital contractures of the limbs and face, hypotonia, and developmental delay	EFO_1001868	[CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015). , A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.]
Zenker diverticulum	EFO_1001867	[A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus.]