Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
non-melanoma skin carcinoma	EFO_0009260	[Any skin carcinoma that is not melanoma, with the most common types being basal cell carcinoma and squamous cell carcinoma]
skin carcinoma	EFO_0009259	[A carcinoma that arises from epithelial cells of the zone of skin]
obsolete_folinic acid-responsive seizures	Orphanet_79097
inflammatory bowel disease, immunodeficiency, and encephalopathy	EFO_0010258	[An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells.]
ADAMTS13 measurement	EFO_0009269	[Quantification of the levels of ADAMTS13 protein in a sample, typically blood plasma]
intellectual developmental disorder with macrocephaly, seizures, and speech delay	EFO_0010259	[A neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures.]
kynurenic acid	CHEBI_18344	[A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by a hydroxy group at C-4.]
neurodegeneration, childhood-onset, with cerebellar atrophy	EFO_0010256	[An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.]
global developmental delay, progressive ataxia, and elevated glutamine	EFO_0010257	[An autosomal recessive disease characterized by early-onset delay in motor skills, delayed speech, progressive ataxia, and neurologic deterioration. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels.]
nausea and vomiting of pregnancy severity measurement	EFO_0009265
obsolete_Popov-Chang syndrome	EFO_0010254	[An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, facial dysmorphism, and behavioral manifestations including autistic-like behavior, self-injurious behavior, fear of social interaction, and poor concentration. Additional features are highly variable and can include seizures, short stature, feeding difficulties, and skin abnormalities.]
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	EFO_0010255	[An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement.]
refractory celiac disease	EFO_0009266	[Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia., An unresponsive case of celiac disease where the villi of a patient with celiac disease do not recover even after the patient stays on a gluten-free diet. For a diagnosis of refractory celica disease, all other possible causes of the intestinal damage must be eliminated. The condition affects a small percentage of people with celiac disease.]
celiac disease	EFO_0001060	[A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite., A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite., A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION., A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION., An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.]
Menke-Hennekam syndrome 1	EFO_0010252	[A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. Menke-Hennekam syndrome-1 (MKHK1) is caused by heterozygous mutation in exon 30 or 31 of the CREBBP gene.]
delirium	EFO_0009267	[A state of sudden and severe confusion., A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)]
cognitive disorder	EFO_1001457	[Disturbances in mental processes related to learning, thinking, reasoning, and judgment., A disease affects cognitive processes.]
family history of Alzheimer’s disease	EFO_0009268	[A reported family history of Alzheimer’s disease in one or more family members.]
family history	EFO_0000493	[Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history.]
Menke-Hennekam syndrome 2	EFO_0010253	[A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. Menke-Hennekam syndrome-2 (MKHK2) is caused by heterozygous mutations in exon 30 or 31 of the EP300 gene.]