| D008297 |
Male |
|
Males |
|
| D008840 |
Microfilament Proteins |
Monomeric subunits of primarily globular ACTIN and found in the cytoplasmic matrix of almost all cells. They are often associated with microtubules and may play a role in cytoskeletal function and/or mediate movement of the cell or the organelles within the cell. |
Actin Binding Protein,Actin-Binding Protein,Actin-Binding Proteins,Microfilament Protein,Actin Binding Proteins,Binding Protein, Actin,Protein, Actin Binding,Protein, Actin-Binding,Protein, Microfilament,Proteins, Actin-Binding,Proteins, Microfilament |
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| D008945 |
Mitral Valve Prolapse |
Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA. |
Floppy Mitral Valve,Mitral Click-Murmur Syndrome,Systolic Click-Murmur Syndrome,Click-Murmur Syndrome,Mitral Valve Prolapse Syndrome,Prolapsed Mitral Valve,Click Murmur Syndrome,Click-Murmur Syndrome, Mitral,Click-Murmur Syndrome, Systolic,Click-Murmur Syndromes,Floppy Mitral Valves,Mitral Click Murmur Syndrome,Mitral Valve Prolapses,Mitral Valve, Floppy,Mitral Valve, Prolapsed,Mitral Valves, Floppy,Mitral Valves, Prolapsed,Prolapse, Mitral Valve,Prolapsed Mitral Valves,Prolapses, Mitral Valve,Syndrome, Click-Murmur,Syndrome, Mitral Click-Murmur,Syndrome, Systolic Click-Murmur,Syndromes, Click-Murmur,Systolic Click Murmur Syndrome,Valve Prolapse, Mitral,Valve Prolapses, Mitral,Valve, Prolapsed Mitral,Valves, Prolapsed Mitral |
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| D011110 |
Polymorphism, Genetic |
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. |
Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic |
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| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
|
| D005260 |
Female |
|
Females |
|
| D005787 |
Gene Frequency |
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. |
Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000071837 |
Fibrillins |
A family of extracellular matrix glycoproteins that is structurally similar to LATENT TGF-BETA BINDING PROTEINS, but contain additional TGF-beta binding domains, in addition to unique domains at their N and C-terminals. Fibrillins assemble into 10-12 nm MICROFIBRILS that function in a variety of cell interactions with the EXTRACELLULAR MATRIX and developmental processes such as ELASTIC TISSUE maintenance and assembly, and the targeting of growth factors to the extracellular matrix. |
Fibrillin |
|
| D000071838 |
Fibrillin-1 |
A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME. |
Profibrillin 1,Profibrillin-1,Fibrillin 1 |
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