thanatophoric dwarfism

См. также в других словарях:

• Dwarfism, thanatophoric — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• Thanatophoric dysplasia — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• Thanatophoric dysplasia — Classification and external resources ICD 10 Q77.1 OMIM 187600 DiseasesDB …   Wikipedia

• Dwarfism — Abnormally short stature, which may be due to a variety of causes. Some forms are hereditary. See also {{}}achondroplasia; dwarfism, pituitary. * * * A condition or a group of conditions in which the standing height of the person is below the 3rd …   Medical dictionary

• thanatophoric — Leading to death. [thanato + G. phoros, bearing] * * * than·a·to·pho·ric .than ət ə fȯr ik adj relating to, affected with, or being a severe form of congenital dwarfism which results in early death * * * than·a·to·pho·ric (than″ə to… …   Medical dictionary

• Dysplasia, thanatophoric — A form of short limbed (micromelic) dwarfism that usually causes death within the first few hours after birth. Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more… …   Medical dictionary

• Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

• FGFR3 — Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism), also known as FGFR3, is a human gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333).tructure and function PBB Summary section title = summary …   Wikipedia

• List of diseases (D) — A list of diseases in the English wikipedia.DiseasesTOC D* D ercole syndromeDa* Daentl Towsend Siegel syndrome * Dahlberg Borer Newcomer syndrome * Daish Hardman Lamont syndrome * Dandy Walker facial hemangioma * Dandy Walker malformation… …   Wikipedia

• Chromosome 4 (human) — Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the… …   Wikipedia

• Td — Adult diphtheria and tetanus toxoids. See Td immunization. * * * tabes dorsalis; tardive dyskinesia; T cell dependent [antigen]; temporal embedding dimension; temporary disability; terminal device; tetanus and diphtheria [toxoid]; tetrodotoxin;… …   Medical dictionary