Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
monogenic epilepsy	MONDO_0015653
autosomal recessive cerebellar ataxia	MONDO_0015244	[Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.]
maximum cigarettes per day measurement	EFO_0009264	[Quantification of the maximum number of cigarettes that a subject smoked per day]
smoking behaviour measurement	EFO_0005671	[the quantification of some smoking or smoking-related behaviour, usually self-reported via a questionnaire]
Olmsted syndrome	MONDO_0031421
autosomal dominant diffuse mutilating palmoplantar keratoderma	MONDO_0017670
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	MONDO_0018445
overgrowth syndrome	MONDO_0019716	[A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.]
inherited renal cancer-predisposing syndrome	MONDO_0017891
autosomal recessive distal renal tubular acidosis	MONDO_0018440	[Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.]
autosomal recessive disease	EFO_1000017	[Autosomal recessive form of disease., An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.]
distal renal tubular acidosis	MONDO_0015827	[Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.]
syndromic genetic hearing loss	MONDO_0019589
obsolete_pyridoxal phosphate-responsive seizures	Orphanet_79096
Congenital bile acid synthesis defect type 4	Orphanet_79095	[Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.]
Congenital bile acid synthesis defect	EFO_0009039	[Congenital bile acid synthesis defects are rare metabolic disorders with defects in bile acid synthesis.]
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	EFO_0010249	[A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging.]
Rare hereditary ataxia	Orphanet_183518
Early-onset ataxia with dementia	Orphanet_98539
Spinocerebellar ataxia with oculomotor anomaly	Orphanet_98693