Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_visual anlage in statu nascendi	EFO_0003375
obsolete_large intestine primordium	EFO_0003378
autoimmune interstitial lung disease-arthritis syndrome	MONDO_0014629	[A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.]
obsolete_small intestine primordium	EFO_0003377
basal ganglia calcification, idiopathic, 6	MONDO_0014628	[Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.]
obsolete_basal encephalocele	Orphanet_268829
obsolete_rectum primordium	EFO_0003379
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	MONDO_0014643
frontotemporal dementia and/or amyotrophic lateral sclerosis 4	MONDO_0014641	[An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.]
frontotemporal dementia and/or amyotrophic lateral sclerosis	MONDO_0030923
frontotemporal dementia with motor neuron disease	MONDO_0017161	[Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.]
obsolete_posterior meningocele	Orphanet_268810
obsolete_BNAR syndrome	Orphanet_217266	[BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).]
CNS demyelination	HP_0007305	[A loss of myelin from nerve fibers in the central nervous system.]
obsolete_myelocystocele	Orphanet_268813
BENTA disease	MONDO_0014645	[BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.]
Oncorhynchus gorbuscha	NCBITaxon_8017
Osmerus mordax	NCBITaxon_8014
Fetal megacystis	HP_0010956	[Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.]
octanoate	CHEBI_25646	[A straight-chain saturated fatty acid anion that is the conjugate base of octanoic acid (caprylic acid); believed to block adipogenesis.]