Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bruguiera gymnorhiza	NCBITaxon_39984
Amborella trichopoda	NCBITaxon_13333
circular visceral muscle fiber	FBbt_00005072	[Circular fiber of the visceral muscles, which surround the intestinal tract.]
obsolete_free sialic acid storage disease, infantile form	Orphanet_309324
permanent neonatal diabetes mellitus	MONDO_0100164	[Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.]
neonatal diabetes mellitus	MONDO_0016391	[Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.]
parthenolide	CHEBI_7939	[A sesquiterpene lactone and active principle of feverfew., Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse., A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04)]
Hypotonia - failure to thrive - microcephaly	Orphanet_79507	[Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.]
obsolete_hereditary periodic fever syndrome	Orphanet_324924
obsolete_neuroacanthocytosis	Orphanet_263440
adult acute respiratory distress syndrome	MONDO_0100130	[A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.]
telomere syndrome	MONDO_0100137	[Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.]
obsolete asymptomatic COVID-19 infection	MONDO_0100139	[OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease.]
D-penicillamine	CHEBI_7959
obsolete mild COVID-19 infection	MONDO_0100140	[OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging.]
obsolete moderate COVID-19 infection	MONDO_0100141	[OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level.]
obsolete severe COVID-19 infection	MONDO_0100142	[OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%.]
obsolete critical COVID-19 infection	MONDO_0100143	[OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction.]
ATP6AP2-related disorder	MONDO_0100146	[Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.]
SATB2 associated disorder	MONDO_0100147	[A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.]