Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
3-hydroxybutyrate measurement	EFO_0010982	[Quantification of 3-hydroxybutyrate in a sample.]
obsolete_Fatal infantile cytochrome C oxidase deficiency	Orphanet_1561	[Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.]
3-hydroxyisobutyrate measurement	EFO_0010983	[Quantification of 3-hydroxyisobutyrate in a sample.]
eCLIP	EFO_0009998	[eCLIP maps the binding sites of RBPs on their target RNAs using a modified individual nucleotide resolution CLIP (iCLIP) protocol, improving efficiency and decreasing execution complexity ]
3-aminoisobutyrate measurement	EFO_0010980	[Quantification of 3-aminoisobutyrate in a sample.]
Nuc-Seq	EFO_0009991	[Nuc-Seq is an RNA sequencing technique optimized for isolating and sequencing nuclear RNA from frozen tissue samples]
Langerhans cell sarcoma	EFO_0007336	[A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)]
Kluver-Bucy syndrome	EFO_0007335	[Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications., An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.]
impulse control disorder	MONDO_0001162	[A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.]
Bubble-Seq	EFO_0009992	[Bubble-Seq prepares libraries of restriction fragments that contain replication initiation sites (bubbles) in vivo]
obsolete_Klippel-Trenaunay syndrome	EFO_0007334	[A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.]
ChIP-BMS	EFO_0009993	[Direct, quantitative approach to assess DNA methylation patterns associated with chromatin modifications or chromatin-associated factors. The ChIP-capturing step is used to obtain a restricted representation of the genome occupied by the epigenetic feature of interest. The captured DNA fragments are subjected to end-repair, adapter ligation using methylated adapters, bisulfite conversion, PCR amplification, and NGS.]
scABA-seq	EFO_0009994	[Detect 5hmC marks in single cells with AbaSI nuclease]
jaw cancer	EFO_0007333	[A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone., A malignant neoplasm involving the jaw skeleton]
Chinese	HANCESTRO_0021
late congenital syphilis	EFO_0007339	[A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.]
X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures	Orphanet_1568	[X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.]
X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration	Orphanet_85317
Lassa fever	EFO_0007338	[A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss., A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.]
lassa virus infectious disease	MONDO_0044750