Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
native cell	CL_0000003	[A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment).]
racemase and epimerase activity, acting on carbohydrates and derivatives	GO_0016857	[Catalysis of a reaction that alters the configuration of one or more chiral centers in a carbohydrate molecule.]
racemase and epimerase activity	GO_0016854	[Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule.]
receptor activity	GO_0004872
Abnormal muscle fiber laminin beta 1	HP_0030093	[A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.]
Reduced muscle fiber laminin beta 1	HP_0030094	[A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.]
Absent muscle fiber merosin	HP_0030091	[Lack of merosin protein in the muscle biopsy.]
Abnormal muscle fiber merosin expression	HP_0030090	[An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.]
Reduced muscle fiber merosin	HP_0030092	[A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.]
Reduced muscle fiber alpha dystroglycan	HP_0030099	[Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.]
Absent muscle dystrophin expression	HP_0030097	[Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.]
Abnormal muscle fiber dystrophin expression	HP_0030096	[A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.]
Reduced muscle dystrophin expression	HP_0030098	[A decreased amount of dystrophin in muscle fiber tissue.]
Reduced muscle collagen VI	HP_0030095	[A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.]
intramolecular transferase activity, phosphotransferases	GO_0016868	[Catalysis of the transfer of a phosphate group from one position to another within a single molecule.]
intramolecular transferase activity	GO_0016866	[Catalysis of the transfer of a functional group from one position to another within a single molecule.]
Dntt (mouse)	MGI:98659	[A protein coding gene Dntt in mouse.]
intramolecular oxidoreductase activity, interconverting aldoses and ketoses	GO_0016861	[Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears.]
intramolecular oxidoreductase activity	GO_0016860	[Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears.]
radio-ulna	UBERON_0006715	[Paired, long bones of endochondral origin formed by the fusion of the radius and ulna.]