Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
response to vitamin B3	EFO_0010648	[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 vitamin B3 stimulus.]
response to vitamin	GO_0033273	[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 vitamin stimulus.]
obsolete_ectodermal dysplasia syndrome	Orphanet_79373
systemic primary carnitine deficiency disease	MONDO_0008919	[Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.]
disorder of carnitine cycle and carnitine transport	MONDO_0017716
inherited amino acid metabolic disorder	MONDO_0004736	[An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.]
muscular lipidosis	MONDO_0016117
disorder of fatty acid oxidation and ketogenesis	MONDO_0017713
Cardiac-urogenital syndrome	EFO_0010645	[Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018).]
ligament	UBERON_0000211	[Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ.]
carnitine-acylcarnitine translocase deficiency	MONDO_0008918	[Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.]
familial hypertrophic cardiomyopathy	MONDO_0024573	[Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.]
genetic non-acquired premature ovarian failure	EFO_0010646
cataract-ataxia-deafness syndrome	MONDO_0008928	[Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.]
hereditary ataxia	EFO_0009671	[A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS., An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.]
disorder of patella	EFO_0009665	[A disease involving the patella, a large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.]
intellectual developmental disorder, autosomal recessive 72	EFO_0010654	[A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic intellectual disability, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.]
luteinizing hormone measurement	EFO_0007002	[Quantification of luteinizing hormone (LH) in a sample. In females, an acute rise of LH ("LH surge") triggers ovulation and development of the corpus luteum. In males, where LH had also been called interstitial cell–stimulating hormone (ICSH), it stimulates Leydig cell production of testosterone. It acts synergistically with FSH.]
hormone	CHEBI_24621	[An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function.]
protein	CHEBI_36080	[A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome., A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form.]