Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
juvenile neuronal ceroid lipofuscinosis	MONDO_0019262	[A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.]
late infantile neuronal ceroid lipofuscinosis	MONDO_0015674	[A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.]
ceroid lipofuscinosis, neuronal, 6B (Kufs type)	MONDO_0008768	[Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.]
adult neuronal ceroid lipofuscinosis	MONDO_0019260	[A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.]
neuronal ceroid lipofuscinosis 3	MONDO_0008767	[A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.]
amaurosis-hypertrichosis syndrome	MONDO_0008766	[Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.]
Alstrom syndrome	MONDO_0008763	[A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.]
ciliopathy	EFO_0003900	[Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms., A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.]
autosomal recessive Alport syndrome	MONDO_0008762	[Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.]
Alport syndrome	MONDO_0018965	[A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.]
Tracheomalacia	HP_0002779
beta-ketothiolase deficiency	MONDO_0008760	[Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.]
inborn disorder of ketolysis	MONDO_0019229	[An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process.]
classic organic aciduria	MONDO_0019215
ATP-dependent rna helicase ddx19b measurement	EFO_0020167	[The determination of the amount of ATP-dependent rna helicase ddx19b in a sample]
Pelvic kidney	HP_0000125	[A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.]
aurora kinase A measurement	EFO_0020168	[The determination of the amount of aurora kinase A in a sample]
aurora kinase B measurement	EFO_0020169	[The determination of the amount of aurora kinase B in a sample]
Recurrent upper respiratory tract infections	HP_0002788	[An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).]
Abnormality of the nose	HP_0000366	[An abnormality of the nose.]