Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
longitudinal visceral muscle primordium	FBbt_00017008	[This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium.]
GATA1-Related X-Linked Cytopenia	MONDO_0100089	[X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.]
oenocyte primordium	FBbt_00017020	[A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12.]
Ichthyophthirius multifiliis	NCBITaxon_5932
anaphylaxis	MONDO_0100053	[An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.]
idiopathic anaphylaxis	MONDO_0100054	[Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.]
cibarium primordium	FBbt_00017019	[.]
hypervalinemia and hyperleucine-isoleucinemia	MONDO_0100058	[Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.]
inborn disorder of branched-chain amino acid metabolism	MONDO_0019242	[An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.]
PRPS1 deficiency disorder	MONDO_0100061	[A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.]
Arts syndrome	MONDO_0010533	[Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.]
generalised epilepsy	EFO_0005917	[A chronic condition characterised by recurrent generalised seizures., An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain]
gastric caecum primordium	FBbt_00017027	[Primordium of the gastric caecum of the larva. There are four of these per midgut. They first become apparent as evaginations at the anterior end of the fused midgut primordium during stage 16.]
tyrosine hydroxylase deficiency	MONDO_0100064	[Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).]
hearing impairment and infertile male syndrome	MONDO_0100069	[A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.]
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type	Orphanet_324703	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.]
Hereditary cerebral hemorrhage with amyloidosis	Orphanet_85458	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.]
Rare disease with thoracic aortic aneurysm and aortic dissection	Orphanet_285014
Rare genetic vascular disease	Orphanet_233655
Hereditary cerebral hemorrhage with amyloidosis, Iowa type	Orphanet_324708	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.]