All terms in HP

Label Id Description
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 GO_0016866 [Catalysis of the transfer of a functional group from one position to another within a single molecule.]
radio-ulna UBERON_0006715 [Paired, long bones of endochondral origin formed by the fusion of the radius and ulna.]
forelimb zeugopod bone UBERON_0003466 [A bone that is part of a lower arm [Automatically generated definition].]
signaling receptor activity GO_0038023 [Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.]
incomplete structure PATO_0005013 [A structural quality inhering in a bearer by virtue of the bearer's lacking parts or having a reduced form compared to fully formed entities.]
ligase activity GO_0016874 [Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient.]
outer canthus UBERON_0006726 [A corner of the outer (lateral) part of an eye.]
cochlear modiolus UBERON_0006723 [The central cone shaped core of spongy bone about which turns the spiral canal.]
manubrium of malleus UBERON_0006722 [The handle of the malleus; the portion that extends downward, inward, and backward from the neck of the malleus; it is embedded throughout its length in the tympanic membrane.]
pterygoid muscle UBERON_0006720
masticatory muscle UBERON_0003681 [In humans: Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed).]
medial pterygoid muscle UBERON_0006718 [The medial pterygoid is a pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to the medial pterygoid and attaches to the cranial base and the medial side of the mandibular angle.]