Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
lymphoblastic lymphoma	MONDO_0000873	[A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.]
factor V and factor VIII, combined deficiency of, type 1	MONDO_0009206	[Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.]
faciocardiorenal syndrome	MONDO_0009205	[Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.]
lethal faciocardiomelic dysplasia	MONDO_0009204	[Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.]
1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine	CHEBI_74965	[A phosphatidylcholine 38:4 in which the two acyl substituents at positions 1 and 2 are specified as stearoyl and arachidonoyl respectively.]
insect ventral epidermis primordium	UBERON_6005533
focal facial dermal dysplasia type III	MONDO_0009203	[Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.]
insect clypeo-labral primordium	UBERON_6005538
eyebrow duplication-syndactyly syndrome	MONDO_0009200	[Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.]
Hypernatremia	HP_0003228	[An abnormally increased sodium concentration in the blood.]
nuclear lumen	GO_0031981
hereditary spastic paraplegia 35	MONDO_0012866	[Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.]
lysosomal acid lipase deficiency	MONDO_0010204	[Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.]
chromosome 2q32-q33 deletion syndrome	MONDO_0012864	[2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.]
intellectual disability, Wolff type	MONDO_0010203	[Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.]
Spinal instability	HP_0005881
obsolete myeloid neoplasms associated with PDGFRB rearrangement	MONDO_0000883
Farber lipogranulomatosis	MONDO_0009218	[A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.]
primary CD59 deficiency	MONDO_0012858
autosomal recessive osteopetrosis 7	MONDO_0012859	[Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.]