Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal recessive degenerative and progressive cerebellar ataxia	MONDO_0020046
abnormal sample	EFO_0009655	[A material sample derived from cells or tissue representing an observed or suspected physiologically, genomically or phenotypically abnormal state.]
abnormal	PATO_0000460	[A quality inhering in a bearer by virtue of the bearer's deviation from normal or average.]
Developmental delay with variable intellectual impairment and behavioural abnormalities	EFO_0010644	[Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by Vetrini et al., 2019 and Torti et al., 2019).]
neoplastic sample	EFO_0009656	[A material sample derived from neoplastic cells or tissue.]
3-ureidopropionate measurement	EFO_0010641	[A quantification of the levels of 3-ureidopropionate in a sample.]
N-carbamoyl-beta-alaninate	CHEBI_11892	[A monocarboxylic acid anion that is the conjugate base of N-carbamoyl-beta-alanine arising from deprotonation of the carboxy group.]
wound healing	GO_0042060
response to stress	GO_0006950	[ Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). ]
Neurodevelopmental disorder	EFO_0010642	[A childhood disorder that has a neurological basis and manifests as a developmental disability.]
acute pharyngitis	EFO_0009657	[An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache., An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. [database_cross_reference: NCIt:C34355]]
pharyngitis	MONDO_0002258	[Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.]
GM02783	CLO_0014788	[ATAXIA-TELANGIECTASIA; AT]
cerebellar ataxia-hypogonadism syndrome	MONDO_0008935	[Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.]
congenital hypogonadotropic hypogonadism	MONDO_0015770	[Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).]
hyperproinsulinemia	EFO_0009650	[Hyperproinsulinemia is a disease where insulin is not sufficiently processed before secretion and immature forms of insulin make up the majority of circulating insulin immunoreactivity in both fasting and glucose-stimulated conditions (insulin immunoreactivity refers to all molecules detectable by an insulin antibody, i.e. insulin, proinsulin, and proinsulin-like material).]
cerebellar ataxia-ectodermal dysplasia syndrome	MONDO_0008934	[Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.]
chronic post-operative pain measurement	EFO_0010640	[Quantification of pain that develops after a surgical procedure, and is present for at least 3 months after the procedure.]
rag2 deficiency	EFO_0009651	[Recombination activating gene 2 protein (also known as RAG-2) is a lymphocyte-specific protein encoded by RAG2 gene on human chromosome 11. Together with RAG1 protein, RAG2 forms a V(D)J recombinase, a protein complex required for the process of V(D)J recombination during which the variable regions of immunoglobulin and T cell receptor genes are assembled in developing B and T lymphocytes. Therefore, RAG2 is essential for generation of mature B and T lymphocytes.]
immune system disease	EFO_0000540	[A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.), A disorder resulting from an abnormality in the immune system.]