Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
argininosuccinic aciduria	MONDO_0008815	[Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.]
urea cycle disorder	MONDO_0004739	[A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.]
phosphocreatine measurement	EFO_0010521	[Quantification of phosphocreatine levels in a sample.]
blepharitis	EFO_0009536	[Inflammation of the eyelids near the eyelashes.]
hyperargininemia	MONDO_0008814	[Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.]
arachnoid cyst	MONDO_0008813	[Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)]
central nervous system cystic malformation	MONDO_0017104
pituitary hormone deficiency from meningeal origin	MONDO_0019834
anuria	EFO_0009530	[Absence of urine output.]
AREDYLD syndrome	MONDO_0008812	[AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.]
cardiac ventricle disorder	MONDO_0045001	[A disease or disorder that involves the cardiac ventricle.]
obsolete_distal 22q11.2 microduplication syndrome	Orphanet_261337
familial apolipoprotein C-II deficiency	MONDO_0008810
familial chylomicronemia syndrome	MONDO_0018637
hidradenitis suppurativa	EFO_1000710	[A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident., a common (though rarely diagnosed), chronic skin disease characterized by clusters of abscesses or subcutaneous boil-like "infections" (oftentimes free of actual bacteria) that most commonly affects apocrine sweat gland bearing areas, such as the underarms, under the breasts, inner thighs, groin and buttocks.The disease is not contagious. There are indications that it is hereditary among certain ethnic groups and autoimmune in nature. Onset is most common in the late teens and early 20's.]
hidradenitis	MONDO_0002260	[An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.]
cervical disc degenerative disorder	EFO_0009537	[Any degenerative disorder affecting one or more vertebral discs of the cervical spine.]
lumbar disc degeneration	EFO_0004994	[lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine., Any disease of a degenerative nature that affects the intervertebral disc.]
chronic inflammatory demyelinating polyneuropathy	EFO_0009538	[Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins., A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.]
Guillain-Barre syndrome	EFO_0007292	[A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants., An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.]