Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Larsen-like syndrome, B3GAT3 type	Orphanet_284139
Caulobacter crescentus NA1000	NCBITaxon_565050
obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency	Orphanet_369
obsolete_Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Orphanet_368
obsolete_glycogen storage disease due to glycogen branching enzyme deficiency	Orphanet_367
obsolete_Glycogen storage disease due to glycogen debranching enzyme deficiency	Orphanet_366	[An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.]
congenital fibrosis of the extraocular muscles	EFO_1001985
cardiac amyloidosis	EFO_1001984	[Cardiac amyloidosis is a condition whereby cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension. [PMID:28279425]]
obsolete_familial glucocorticoid deficiency	Orphanet_361
Autosomal recessive Charcot Marie Tooth disease type 2X	EFO_1001983	[Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.]
Antisynthetase syndrome	EFO_1001982	[Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)., Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).]
Aminoacylase 1 deficiency	EFO_1001981	[Deficiency of the aminoacylase-1 enzyme]
Monomelic amyotrophy	EFO_1001989	[Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.]
Juvenile Polymyositis	EFO_1001988	[An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.]
dropped head syndrome	EFO_1001987	[Dropped head syndrome (DHS) is characterized by severe kyphotic deformity of the cervico-thoracic spine. [ PMID:23637681 ]]
obsolete_craniosynostosis and dental anomalies	Orphanet_284149
obsolete_chronic granulomatous disease	Orphanet_379
obsolete_Gorlin syndrome	Orphanet_377	[A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.]
obsolete_Gordon syndrome	Orphanet_376
obsolete_triple-A syndrome	EFO_1001997