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571 Possible Causes for Also Called 'Heterozygous OSMED' and 'Autosomal Dominant, OSMED'

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  • Stickler Syndrome Type 2

    Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p. Synonym(s): Stickler syndrome.[medical-dictionary.thefreedictionary.com] J Pediatr 132(2):368–371 CrossRef PubMed Google Scholar 5. van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG (1997) Oto-spondylo-megaepiphyseal dysplasia[link.springer.com] Abstract Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory.[ncbi.nlm.nih.gov] dysplasia (OSMED).[en.wikibooks.org] Stickler syndrome is an autosomal dominant multisystem disorder with characteristic midface hypoplasia, retromicrognathia, cleft palate and a "moon-shaped" appearance.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

    Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p. Synonym(s): Stickler syndrome.[medical-dictionary.thefreedictionary.com] J Pediatr 132(2):368–371 CrossRef PubMed Google Scholar 5. van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG (1997) Oto-spondylo-megaepiphyseal dysplasia[link.springer.com] dominant 13 (sequence analysis of COL11A2 gene) Deafness autosomal dominant 13 Deafness autosomal recessive 53 Fibrochondrogenesis 2 Stickler type 3 syndrome Weissenbacher-Zweymuller[cgcgenetics.com]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    OSMED, Heterozygous It is also called as ‘Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant’, ‘Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous’, ‘Pierre-Robin[homeopathyworldcommunity.ning.com] Giedion A, Brandner M, Lecannellier J, et al (1982) Oto-spondylo-megaepiphyseal dysplasia (OSMED).[link.springer.com] Synonyms of OSMED, Homozygous Nance-Sweeney syndrome oto-spondylo-megaepiphyseal dysplasia, autosomal recessive oto-spondylo-megaepiphyseal dysplasia, homozygous General Discussion[rarediseases.org]

  • Autosomal Dominant Polycystic Kidney Disease

    References 1 : Autosomal dominant polycystic kidney disease. N Engl J Med 1993 ; 329 : 332.[doi.org] Urine osmolality (U osm ) was chosen as the biomarker of V2 receptor inhibition. Two tolvaptan doses per day were necessary to suppress U osm to osm in 50% of subjects.[ncbi.nlm.nih.gov] English autosomal dominant polycystic kidney human disease Polycystic kidney disease, adult type (disorder) Polycystic kidney, autosomal dominant ADPKD autosomal dominant[wikidata.org]

  • Stickler Syndrome Type 5

    STL has been described with both autosomal dominant and recessive inheritance.[ncbi.nlm.nih.gov] This form is now considered the same disorder as heterozygous oto-spondylo-megaepiphyseal dysplasia (OSMED).[rarediseases.org] Although the overall phenotype was comparable to autosomal dominant Stickler, vitreous changes that may enable recognition of patients who are likely to carry mutations in[ncbi.nlm.nih.gov]

  • High Myopia-Sensorineural Deafness Syndrome

    Emery-Dreifuss muscular dystrophy Autosomal dominant Larsen syndrome Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant progressive external ophthalmoplegia[csbg.cnb.csic.es] COL11A2 causes a 'Stickler-like' syndrome, which affects only the joints and hearing with no eye problems … Now been given the name Oto - spondylo - megaepiphyseal dysplasia[ibis-birthdefects.org] […] and homozygous OSMED ( 215150 ) are all caused by mutations in the COL11A2 gene.[genome.jp]

  • Autosomal Dominant Prognathism

    Homepage Rare diseases Search Search for a rare disease Autosomal dominant prognathism Disease definition A rare, genetic, developmental defect during embryogenesis disorder[orpha.net] […] alpha-2 chain COL11A2 6p21.3 120290 Stickler syndrome, type II 184840 AD cleft palate, micrognathia, glossoptosis, severe myopia, flat facies, dental anomalies, deafness Osmed[en.wikibooks.org] Autosomal dominant prognathism in Orphanet.[ncbi.nlm.nih.gov]

  • Deafness, Autosomal Dominant 23

    Symptoms - Deafness- autosomal dominant nonsyndromic sensorineural 23 Progressive deafness Causes - Deafness- autosomal dominant nonsyndromic sensorineural 23 Not supplied[checkorphan.org] […] syndrome Aicardi syndrome Sclerosing bone dysplasia mental retardation Dysosteosclerosis Spondylocostal dysostosis Deafness, autosomal recessive 51 Spinocerebellar ataxia 28 OSMED[checkrare.com] Pathways for Deafness, Autosomal Dominant 23 GO Terms for Deafness, Autosomal Dominant 23 Sources for Deafness, Autosomal Dominant 23[malacards.org]

  • Spondyloperipheral Dysplasia

    Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth.[en.wikipedia.org] […] type COL2A1 Spondylo-peripheral dysplasia COL2A1 X型コラーゲン異常症グループ metaphyseal chondrodysplasia, Schmid型 COL10A1 XI型コラーゲン異常症グループ Stickler dysplasia COL2A1, COL11A1, COL11A2 Oto-spondylo-megaepiphyseal[riken.jp] This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder.[ncbi.nlm.nih.gov]

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