Terminology Service < Semantic Lookup Platform

All terms in MESH

Label	Id	Description
Dach2 protein, mouse	C485735
Nr2e3 protein, mouse	C485736
TIMM13 protein, human	C485737
Cspg5 protein, rat	C485738
Holoprosencephaly	D016142	[Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.]
Chromosome Disorders	D025063	[Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)]
Zkscan5 protein, mouse	C485739
Polymerase Chain Reaction	D016133	[In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.]
Nucleic Acid Amplification Techniques	D021141	[Diagnostic nucleic acid amplification procedures used to test for the presence of an infectious agent or a specific ALLELE or MUTATION., Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.]
Organizational Policy	D016134	[A course or method of action selected, usually by an organization, institution, university, society, etc., from among alternatives to guide and determine present and future decisions and positions on matters of public interest or social concern. It does not include internal policy relating to organization and administration within the corporate body, for which ORGANIZATION AND ADMINISTRATION is available.]
Social Control Policies	D011049	[Decisions for determining and guiding present and future objectives from among alternatives.]
Spinal Dysraphism	D016135	[Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)]
Neural Tube Defects	D009436	[Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)]
Spina Bifida Occulta	D016136	[A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)]
Spina Bifida Cystica	D016137	[A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)]
Walking	D016138	[An activity in which the body advances at a slow to moderate pace by moving the feet in a coordinated fashion. This includes recreational walking, walking for fitness, and competitive race-walking.]
Locomotion	D008124	[Movement or the ability to move from one place or another. It can refer to humans, vertebrate or invertebrate animals, and microorganisms.]
Exercise	D015444	[A single bout of exercise., Physical activity which is usually regular and done with the intention of improving or maintaining PHYSICAL FITNESS or HEALTH. Contrast with PHYSICAL EXERTION which is concerned largely with the physiologic and metabolic response to energy expenditure.]
Martial Arts	D016139	[Activities in which participants learn self-defense mainly through the use of hand-to-hand combat. Judo involves throwing an opponent to the ground while karate (which includes kung fu and tae kwon do) involves kicking and punching an opponent.]
Atp1a4 protein, rat	C485720