Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hepatic porphyria	MONDO_0002520	[A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.]
porphyria	MONDO_0037939	[Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.]
A549	EFO_0001086
non-small cell lung adenocarcinoma	EFO_0005288	[Type of epithelial lung cancer arising from glandular origin.]
AU565	EFO_0001087
Propionibacterium freudenreichii subsp. shermanii	NCBITaxon_1752
obsolete_Beas2B	EFO_0001088
BEAS-2B	EFO_0001089
obsolete_agammaglobulinemia	Orphanet_183669
obsolete_hyper-IgM syndrome without susceptibility to opportunistic infections	Orphanet_183666
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	MONDO_0014512	[PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.]
obsolete_recurrent infections associated with rare immunoglobulin isotypes deficiency	Orphanet_183675
fatty acyl-CoA reductase 1 deficiency	MONDO_0014510
macular dystrophy with central cone involvement	MONDO_0014515
obsolete_metabolic myopathy due to lactate transporter defect	Orphanet_171690
caffeine	CHEBI_27732	[A trimethylxanthine that has formula C8H10N4O2.]
synovium disorder	MONDO_0056799	[A disease or disorder that involves the layer of synovial tissue.]
obsolete_parkinsonian-pyramidal syndrome	Orphanet_171695
skin squamous cell carcinoma	MONDO_0002529	[A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.]
folate deficiency	EFO_0001070	[A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)]