Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Proximal 16p11.2 microduplication syndrome	Orphanet_370079
fisetin	CHEBI_42567	[A tetrahydroxyflavone that has formula C15H10O6.]
Methanobacterium	NCBITaxon_2160
Diffuse alveolar damage	HP_0033006	[Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.]
inverted transitional cell papilloma	MONDO_0003064	[A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.]
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	MONDO_0011842	[A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.]
obsolete_benign infantile focal epilepsy with midline spikes and wave during sleep	Orphanet_166308
Vitis rotundifolia	NCBITaxon_103349
hereditary angioedema type 2	MONDO_0015054	[Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.]
hereditary angioedema type 1	MONDO_0015053	[Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.]
tubular duplication of the esophagus	MONDO_0015051	[Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.]
esophageal duplication cyst	MONDO_0015050	[Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.]
Pes valgus	HP_0008081	[An outward deviation of the foot at the talocalcaneal or subtalar joint.]
Benign infantile seizures associated to mild gastroenteritis	Orphanet_166305
unilateral retinoblastoma	MONDO_0003076	[A retinoblastoma that only involves a single eye.]
Vitis amurensis	NCBITaxon_103351
obsolete_benign partial epilepsy with secondarily generalized seizures in infancy	Orphanet_166302
obsolete_oculocutaneous albinism type 6	Orphanet_370097
obsolete_oculocutaneous albinism type 5	Orphanet_370091
3-(5-fluorouracil-1-yl)-L-alanine	CHEBI_42549