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36 relations: Aortic stenosis, Autosome, Bone marrow failure, Cancer, CHARGE syndrome, Cleidocranial dysostosis, Copy-number variation, DiGeorge syndrome, Dominance (genetics), Dyskeratosis congenita, Ehlers–Danlos syndromes, Elastin, Expressivity (genetics), Frontotemporal dementia, Gene, Gene product, Granulin, Holoprosencephaly, Holt–Oram syndrome, Marfan syndrome, Myelodysplastic syndrome, Non-allelic homologous recombination, Null allele, Organism, Ploidy, Polydactyly, Protein, PRPF31, Pulmonary fibrosis, Retinitis pigmentosa, Telomerase reverse transcriptase, Wild type, Williams syndrome, Zygosity, 1q21.1 deletion syndrome, 22q13 deletion syndrome.
Aortic stenosis
Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Bone marrow failure
Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white blood cells or platelets.
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
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CHARGE syndrome
CHARGE syndrome (formerly known as CHARGE association), is a rare syndrome caused by a genetic disorder.
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Cleidocranial dysostosis
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth.
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Copy-number variation
Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.
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DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Dyskeratosis congenita
Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome,James, William; Berger, Timothy; Elston, Dirk (2005).
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Ehlers–Danlos syndromes
Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders.
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Elastin
Elastin is a highly elastic protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting.
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Expressivity (genetics)
In genetics, expressivity quantifies variation in a non-binary phenotype across individuals carrying a particular genotype.
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Frontotemporal dementia
The frontotemporal dementias (FTD) encompass six types of dementia involving the frontal or temporal lobes.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene product
A gene product is the biochemical material, either RNA or protein, resulting from expression of a gene.
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Granulin
Granulin is a protein that in humans is encoded by the GRN gene.
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Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.
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Holt–Oram syndrome
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems.
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Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
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Myelodysplastic syndrome
Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.
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Non-allelic homologous recombination
Non-allelic homologous recombination (NAHR) is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles.
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Null allele
A null allele is a nonfunctional copy of a gene caused by a genetic mutation.
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Organism
In biology, an organism (from Greek: ὀργανισμός, organismos) is any individual entity that exhibits the properties of life.
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Ploidy
Ploidy is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes.
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Polydactyly
Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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PRPF31
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
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Pulmonary fibrosis
Pulmonary fibrosis (literally "scarring of the lungs") is a respiratory disease in which scars are formed in the lung tissues, leading to serious breathing problems.
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Retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision.
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Telomerase reverse transcriptase
Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.
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Wild type
Wild type (WT) refers to the phenotype of the typical form of a species as it occurs in nature.
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Williams syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body.
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Zygosity
Zygosity is the degree of similarity of the alleles for a trait in an organism.
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1q21.1 deletion syndrome
1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome 1.
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22q13 deletion syndrome
22q13 deletion syndrome (spoken as twenty-two q one three, see Locus (genetics)) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22.
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Haplo sufficiency, Haplo-insufficient, Haplo-sufficiency, Haploinsufficient, Haplosufficiency.
References
[1] https://en.wikipedia.org/wiki/Haploinsufficiency
