Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myocardium of atrium	UBERON_0002302	[The atrial part of middle layer of the heart, comprised of involuntary muscle.]
spondyloepimetaphyseal dysplasia, Genevieve type	MONDO_0012495	[Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.]
Tetraamelia - multiple malformations	Orphanet_3301	[Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.]
pituitary hormone deficiency, combined, 1	MONDO_0024464	[Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.]
skin appendage carcinoma	EFO_1001183	[A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.]
T-cell leukemia	EFO_0005592	[A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.]
methylmalonic aciduria and homocystinuria type cblG	EFO_0005597	[Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.intellectual deficit and seizures.]
toxic encephalopathy	EFO_0005595	[A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives., Toxic encephalopathy is a degenerative neurologic disorder caused by exposure to toxic substances like organic solvents. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life. Toxic encephalopathy can permanently damage the brain and currently, treatment is mainly just for the symptoms.]
obsolete_tetrasomy 5p	Orphanet_3309
obsolete_tetrasomy 18p	Orphanet_3307
obsolete_duplication/inversion 15q11	Orphanet_3306
Tetraploidy	Orphanet_3305
Fallot complex - intellectual disability - growth delay	Orphanet_3304	[Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.]
Francisella tularensis	NCBITaxon_263
midbrain tectum	UBERON_0002314	[Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei (MM).]
glioma susceptibility 1	MONDO_0024498
tumor grade 3 or 4, general grading system	MONDO_0024497	[Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.]
general tumor grading characteristic	MONDO_0024489	[A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.]
obsolete_tetrasomy 9p	Orphanet_3310
obsolete_congenital amegakaryocytic thrombocytopenia	Orphanet_3319