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3-M syndrome

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3-M syndrome is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. [1]

26 relations: Birth defect, CCDC8, Chondrocyte, CUL7, Dentist, Dentistry, Dominance (genetics), Dysmorphic feature, Endochondral ossification, Genetic heterogeneity, Growth hormone therapy, Homogeneity and heterogeneity, Hypoplasia, Hypospadias, Lordosis, Microtubule, OBSL1, Orthopedic surgery, Pathogenesis, Pediatrics, Plastic surgery, Prenatal testing, Proteasome, Radiography, Scaffold protein, Ubiquitin.

Birth defect

A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.

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CCDC8

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.

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Chondrocyte

Chondrocytes (from Greek χόνδρος, chondros.

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CUL7

Cullin-7 is a RING-E3 ligase protein that in humans is encoded by the CUL7 gene.

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Dentist

A dentist, also known as a dental surgeon, is a surgeon who specializes in dentistry, the diagnosis, prevention, and treatment of diseases and conditions of the oral cavity.

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Dentistry

Dentistry is a branch of medicine that consists of the study, diagnosis, prevention, and treatment of diseases, disorders, and conditions of the oral cavity, commonly in the dentition but also the oral mucosa, and of adjacent and related structures and tissues, particularly in the maxillofacial (jaw and facial) area.

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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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Dysmorphic feature

A dysmorphic feature is a difference of body structure.

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Endochondral ossification

Endochondral ossification is one of the two essential processes during fetal development of the mammalian skeletal system by which bone tissue is created.

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Genetic heterogeneity

Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms.

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Growth hormone therapy

Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy.

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Homogeneity and heterogeneity

Homogeneity and heterogeneity are concepts often used in the sciences and statistics relating to the uniformity in a substance or organism.

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Hypoplasia

Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.

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Hypospadias

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.

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Lordosis

Lordosis is the normal inward lordotic curvature of the lumbar and cervical regions of the human spine.

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Microtubule

Microtubules are tubular polymers of tubulin that form part of the cytoskeleton that provides the cytoplasm of eukaryotic cells and some bacteria with structure and shape.

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OBSL1

Obscurin-like protein 1 is a protein that in humans is encoded by the OBSL1 gene.

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Orthopedic surgery

Orthopedic surgery or orthopedics, also spelled orthopaedic, is the branch of surgery concerned with conditions involving the musculoskeletal system.

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Pathogenesis

The pathogenesis of a disease is the biological mechanism (or mechanisms) that leads to the diseased state.

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Pediatrics

Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.

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Plastic surgery

Plastic surgery is a surgical specialty involving the restoration, reconstruction, or alteration of the human body.

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Prenatal testing

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

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Proteasome

Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.

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Radiography

Radiography is an imaging technique using X-rays to view the internal form of an object.

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Scaffold protein

In biology, scaffold proteins are crucial regulators of many key signalling pathways.

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Ubiquitin

Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.

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Redirects here:

3-M Syndrome, 3m syndrome, Dolicospondylic dysplasia, Gloomy syndrome, Le Merrer syndrome.

References

[1] https://en.wikipedia.org/wiki/3-M_syndrome

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