Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
middle lobe syndrome	EFO_0007367	[A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection., Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)]
microsporidiosis	EFO_0007366	[An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members., A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.]
Lumbar hyperlordosis	HP_0002938	[An abnormal accentuation of the inward curvature of the spine in the lumbar region.]
disintegrin and metalloproteinase domain-containing protein 9 measurement	EFO_0020329	[The determination of the amount of disintegrin and metalloproteinase domain-containing protein 9 in a sample]
Hemivertebrae	HP_0002937	[Absence of one half of the vertebral body.]
dipeptidyl peptidase 1 measurement	EFO_0020325	[The determination of the amount of dipeptidyl peptidase 1 in a sample]
Dehydratase deficiency	Orphanet_1578	[Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.]
Hyperphenylalaninemia	Orphanet_238583
dipeptidyl peptidase 2 measurement	EFO_0020326	[The determination of the amount of dipeptidyl peptidase 2 in a sample]
Distal sensory impairment	HP_0002936	[An abnormal reduction in sensation in the distal portions of the extremities.]
Somatic sensory dysfunction	HP_0003474	[An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.]
discoidin domain-containing receptor 2 measurement	EFO_0020327	[The determination of the amount of discoidin domain-containing receptor 2 in a sample]
GM17240	CLO_0014410	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
obsolete_infantile bilateral striatal necrosis	Orphanet_1576
disintegrin and metalloproteinase domain-containing protein 12 measurement	EFO_0020328	[The determination of the amount of disintegrin and metalloproteinase domain-containing protein 12 in a sample]
desmoglein-1 measurement	EFO_0020321	[The determination of the amount of desmoglein-1 in a sample]
desmoglein-2 measurement	EFO_0020322	[The determination of the amount of desmoglein-2 in a sample]
Thoracic scoliosis	HP_0002943
Abnormal thorax morphology	HP_0000765	[Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).]
diablo homolog, mitochondrial measurement	EFO_0020323	[The determination of the amount of diablo homolog, mitochondrial in a sample]