Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
progressive pseudorheumatoid arthropathy of childhood	MONDO_0008827	[Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.]
genetic inflammatory or rheumatoid-like osteoarthropathy	MONDO_0800092
triacylglycerol 56:6 measurement	EFO_0010433	[The quantification of triacylglycerol 56:6 levels in some body fluid, used as a biomarker for disease.]
arthrogryposis-hyperkeratosis syndrome, lethal form	MONDO_0008826	[Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.]
arthrogryposis multiplex congenita	MONDO_0015168	[Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.]
Waldenstrom macroglobulinemia	EFO_0009441
lymphoplasmacytic lymphoma	MONDO_0000432	[A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.]
triacylglycerol 56:3 measurement	EFO_0010430	[The quantification of triacylglycerol 56:3 levels in some body fluid, used as a biomarker for disease.]
arthrogryposis multiplex congenita-whistling face syndrome	MONDO_0008825	[Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.]
triacylglycerol 56:4 measurement	EFO_0010431	[The quantification of triacylglycerol 56:4 levels in some body fluid, used as a biomarker for disease.]
fetal akinesia deformation sequence	MONDO_0008824	[Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.]
syndromic respiratory or mediastinal malformation	MONDO_0015222	[A respiratory or mediastinal malformation that is part of a larger syndrome.]
thoracic malformation	MONDO_0015929
BRCAX breast cancer	EFO_0009443	[Breast cancer occuring in women with a family history indicative or being a BRCA1 or BRCA2 mutation carrier, but genetic screening for these genes has failed to find clinically significant mutations.]
arthrogryposis multiplex congenita 2, neurogenic type	MONDO_0008823	[Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.]
mandibular lateral line neuromast	UBERON_2000125	[Neuromast that is part of the mandibular lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.).]
Progressive encephalopathy	HP_0002448
Encephalopathy	HP_0001298	[Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.]
tegmentum	UBERON_0024151	[The ventral topographic division of the midbrain; the dorsal topographic division is the tectum. Meckel (1817; see English translation, 1832, vol. 2, p. 467) apparently introduced the term and roughly its definition here for macrodissected adult humans, except he excluded the cerebral peduncle (Tarin, 1753), a white matter tract at the base of the midbrain, which is still common today but is included here. As defined here, tegmentum refers to the whole of the midbrain (Baer, 1837) excluding the tectum but including the pretectal region (Scalia, 1972); see Swanson (2000, pp. 522, 526). Usage of this term is very complex, inconsistent, and illogical; see for example Crosby et al. (1962, pp. 221, 260, 262), Carpenter (1976, p. 367 ff.).]
Dyscalculia	HP_0002442	[A specific learning disability involving mathematics and arithmetic.]