Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital primary megaureter	MONDO_0018960	[Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.]
leukoencephalopathy-palmoplantar keratoderma syndrome	MONDO_0016545	[Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.]
obsolete_mild Canavan disease	Orphanet_314918
Beckwith-Wiedemann syndrome due to NSD1 mutation	MONDO_0016547
Beckwith-Wiedemann syndrome	MONDO_0007534	[Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.]
congenital secondary polycythemia	MONDO_0016540
secondary polycythemia	MONDO_0020115	[Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).]
acquired secondary polycythemia	MONDO_0016541	[An instance of secondary polycythemia that is acquired during the lifetime of the individual.]
acquired polycythemia	MONDO_0002438	[An instance of polycythemia that is acquired during the lifetime of the individual.]
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	MONDO_0016542	[Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.]
hyperphenylalaninemia due to tetrahydrobiopterin deficiency	MONDO_0016543	[Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.]
disorder of pterin metabolism	MONDO_0017756
phenylketonuria	MONDO_0009861	[Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.]
brachial plexus neuropathy from injury	MONDO_0004569
Sarcophaga crassipalpis	NCBITaxon_59312
intestinal obstruction	MONDO_0004565	[Blockage of the normal flow of the intestinal contents within the bowel.]
ileus	MONDO_0004567	[Decrease in peristalsis in the absence of a mechanical bowel obstruction.]
ethyl glucuronide	CHEBI_87248	[A beta-D-glucosiduronic acid that is the ethyl derivative of beta-D-glucuronic acid.]
Oligomenorrhea	HP_0000876	[Infrequent menses (less than 6 per year or more than 35 days between cycles).]
obsolete_severe Canavan disease	Orphanet_314911