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- Campomelic_dysplasia abstract "Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood.The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of Disorders of Sexual Development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal.An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is found in about 10% of patients, particularly those surviving the neonatal period.".
- Campomelic_dysplasia meshId "D055036".
- Campomelic_dysplasia omim "114290".
- Campomelic_dysplasia wikiPageExternalLink br.fcgi?book=gene&part=campo-dysp.
- Campomelic_dysplasia wikiPageExternalLink campomelic.html.
- Campomelic_dysplasia wikiPageID "7959503".
- Campomelic_dysplasia wikiPageLength "12107".
- Campomelic_dysplasia wikiPageOutDegree "54".
- Campomelic_dysplasia wikiPageRevisionID "674266346".
- Campomelic_dysplasia wikiPageWikiLink Amino_acid.
- Campomelic_dysplasia wikiPageWikiLink Category:Transcription_factor_deficiencies.
- Campomelic_dysplasia wikiPageWikiLink Chromosomal_translocation.
- Campomelic_dysplasia wikiPageWikiLink Chromosome_17_(human).
- Campomelic_dysplasia wikiPageWikiLink Cis-Regulatory_element.
- Campomelic_dysplasia wikiPageWikiLink Coding_region.
- Campomelic_dysplasia wikiPageWikiLink Comparative_genomic_hybridization.
- Campomelic_dysplasia wikiPageWikiLink DNA.
- Campomelic_dysplasia wikiPageWikiLink DNA_microarray.
- Campomelic_dysplasia wikiPageWikiLink Embryonic.
- Campomelic_dysplasia wikiPageWikiLink Expressivity_(genetics).
- Campomelic_dysplasia wikiPageWikiLink Genetic_disorder.
- Campomelic_dysplasia wikiPageWikiLink Genetic_testing.
- Campomelic_dysplasia wikiPageWikiLink Genotype.
- Campomelic_dysplasia wikiPageWikiLink HMG-box.
- Campomelic_dysplasia wikiPageWikiLink Hearing_loss.
- Campomelic_dysplasia wikiPageWikiLink Infant.
- Campomelic_dysplasia wikiPageWikiLink Intellectual_disability.
- Campomelic_dysplasia wikiPageWikiLink Kyphosis.
- Campomelic_dysplasia wikiPageWikiLink Microsatellite.
- Campomelic_dysplasia wikiPageWikiLink Mosaic_(genetics).
- Campomelic_dysplasia wikiPageWikiLink Mutation.
- Campomelic_dysplasia wikiPageWikiLink Phenotype.
- Campomelic_dysplasia wikiPageWikiLink Polymerase_chain_reaction.
- Campomelic_dysplasia wikiPageWikiLink Protein.
- Campomelic_dysplasia wikiPageWikiLink Radiography.
- Campomelic_dysplasia wikiPageWikiLink Respiratory_distress.
- Campomelic_dysplasia wikiPageWikiLink Respiratory_failure.
- Campomelic_dysplasia wikiPageWikiLink SOX9.
- Campomelic_dysplasia wikiPageWikiLink Scoliosis.
- Campomelic_dysplasia wikiPageWikiLink Testis_determining_factor.
- Campomelic_dysplasia wikiPageWikiLink Transcription_factor.
- Campomelic_dysplasia wikiPageWikiLink Y_chromosome.
- Campomelic_dysplasia wikiPageWikiLink Zygosity.
- Campomelic_dysplasia wikiPageWikiLinkText "Campomelic dysplasia".
- Campomelic_dysplasia wikiPageWikiLinkText "campomelic dysplasia".
- Campomelic_dysplasia diseasesdb "33419".
- Campomelic_dysplasia meshid "D055036".
- Campomelic_dysplasia name "Campomelic dysplasia".
- Campomelic_dysplasia omim "114290".
- Campomelic_dysplasia wikiPageUsesTemplate Template:Infobox_disease.
- Campomelic_dysplasia wikiPageUsesTemplate Template:Transcription_factor_deficiencies.
- Campomelic_dysplasia subject Category:Transcription_factor_deficiencies.
- Campomelic_dysplasia hypernym Disorder.
- Campomelic_dysplasia type Disease.
- Campomelic_dysplasia type Deficiency.
- Campomelic_dysplasia type Disorder.
- Campomelic_dysplasia type Thing.
- Campomelic_dysplasia type Q12136.
- Campomelic_dysplasia comment "Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood.The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb.".
- Campomelic_dysplasia label "Campomelic dysplasia".
- Campomelic_dysplasia sameAs Q1031536.
- Campomelic_dysplasia sameAs Kampomele_Dysplasie.
- Campomelic_dysplasia sameAs Dysplasie_campomélique.
- Campomelic_dysplasia sameAs Sindrome_camptomelica.
- Campomelic_dysplasia sameAs 굴지_형성이상.
- Campomelic_dysplasia sameAs Campomele_dysplasie.
- Campomelic_dysplasia sameAs m.026lhkm.
- Campomelic_dysplasia sameAs Q1031536.
- Campomelic_dysplasia wasDerivedFrom Campomelic_dysplasia?oldid=674266346.
- Campomelic_dysplasia isPrimaryTopicOf Campomelic_dysplasia.
- Campomelic_dysplasia name "Campomelic dysplasia".