Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hyperlipoproteinemia	MONDO_0037748	[An elevated concentration of lipoproteins.]
coenzyme Q10 measurement	EFO_0007836	[quantification in a sample of the amount of coenzyme Q10, a lipophilic redox molecule that is present in membranes of almost all cells in human tissues, is essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression]
obsolete_Syndromic X-linked ichthyosis	Orphanet_281090	[Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.]
hyperostosis corticalis generalisata	MONDO_0009395	[Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.]
juvenile Paget disease	MONDO_0009394	[Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.]
osteitis deformans	EFO_0004261	[A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry., A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.]
obsolete invasive pneumococcal disease, recurrent isolated, 2	MONDO_0010387
tyrosine-protein kinase TEC measurement	EFO_0020830	[The determination of the amount of tyrosine-protein kinase TEC in a sample]
ornithine translocase deficiency	MONDO_0009393	[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.]
immunodeficiency 33	MONDO_0010386	[Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.]
X-linked mendelian susceptibility to mycobacterial diseases	MONDO_0017905	[X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.]
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	MONDO_0010389	[Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.]
Ulnar deviation of the wrist	HP_0003049
obsolete_autosomal recessive congenital ichthyosis	Orphanet_281097
fragile X syndrome	MONDO_0010383	[A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.]
Arthropathy	HP_0003040
fragile X-associated tremor/ataxia syndrome	MONDO_0010382	[Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.]
Brachydactyly - arterial hypertension	Orphanet_1276	[Brachydactyly - arterial hypertension is a rare brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.]
ADHD symptom measurement	EFO_0007860	[quantification of some aspect of ADHD symptoms such as presence/absence or severity, usually through administration of standardised questionnaires or evaluation by a qualified professional]
Brachydactyly - mesomelia - intellectual disability - heart defects	Orphanet_1277