Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
gamma-glutamylglutamine measurement	EFO_0021138	[Quantification of the amount of gamma-glutamylglutamine in a sample.]
Skeletal myopathy	HP_0003756
gamma-glutamylglutamate measurement	EFO_0021137	[Quantification of the amount of gamma-glutamylglutamate in a sample.]
thymic neuroendocrine tumor	MONDO_0019964	[Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.]
pro-hydroxy-pro measurement	EFO_0021132	[Quantification of the amount of pro-hydroxy-pro in a sample.]
phenylalanylphenylalanine measurement	EFO_0021131	[Quantification of the amount of phenylalanylphenylalanine in a sample.]
ADpSGEGDFXAEGGGVR measurement	EFO_0021134	[Quantification of the amount of ADpSGEGDFXAEGGGVR in a sample.]
spermatocytic seminoma	MONDO_0020513	[A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.]
Episodic flaccid weakness	HP_0003752	[Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.]
pyroglutamylglycine measurement	EFO_0021133	[Quantification of the amount of pyroglutamylglycine in a sample.]
severe early-onset axonal neuropathy due to MFN2 deficiency	MONDO_0019549	[Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.]
insulin-like growth factor-binding protein 7 measurement	EFO_0008161	[quantification of the amount of insulin-like growth factor-binding protein 7 in a sample]
integrin alpha-I: beta-1 complex measurement	EFO_0008162	[quantification of the amount of integrin alpha-I: beta-1 complex in a sample]
obsolete_autosomal dominant proximal spinal muscular atrophy	Orphanet_211037
intercellular adhesion molecule 2 measurement	EFO_0008163	[quantification of the amount of intercellular adhesion molecule 2 in a sample]
leucylleucine measurement	EFO_0021130	[Quantification of the amount of leucylleucine in a sample.]
intercellular adhesion molecule 5 measurement	EFO_0008164	[quantification of the amount of intercellular adhesion molecule 5 in a sample]
insulin receptor measurement	EFO_0008160	[quantification of the amount of insulin receptor in a sample]
choroiditis	MONDO_0001280	[An inflammatory process that affects the choroid.]
interleukin 1 receptor-like 2 measurement	EFO_0008169	[quantification of the amount of interleukin 1 receptor-like 2 in a sample]