从减少的结果

25 B

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options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

类别 骨矿代谢, 遗传或先天性 频率 少见 (U.S.) Usually seen in children.

按年龄的可能性

由症状持续时间的可能性

有关医师的类型 genetics specialist family practitioner internist 郵政編碼 找到的地方 結果表明，電腦產生的建議，以幫助您找到一個醫生. MEDgle不推薦任何特定類型的醫生或聲稱是完整或準確的供應商和專業建議.

achondrogenesis - 畸形的骨骼和软骨 定义 achondrogenesis Achondrogenesis is a number of disorders which are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). 更多 Achondrogenesis is a number of disorders which are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support. less 一些常见的症状 短的树干 一些有关的诊断 1 - 7 of 41 诊断 唐氏综合症 法伊弗综合症 DiGeorge氏综合征 生长激素缺乏或不敏感 梅毒 11q缺失综合征 Apert's Syndrome   更多 我有 'achondrogenesis'? 此外，下列诊断测试可能需要帮助核实诊断: 诊断测试的搜索结果 'achondrogenesis' 1 - 5 of 9 诊断测试 分子遗传学研究 achondrogenesis 和 分子遗传学研究 胸部X光检查 Radiological technique to image the chest achondrogenesis 和 胸部X光检查 透视四肢 achondrogenesis 和 透视四肢 X射线骨盆 achondrogenesis 和 X射线骨盆 透视头骨 achondrogenesis 和 透视头骨 透视脊椎 achondrogenesis 和 透视脊椎 活检的软骨 achondrogenesis 和 活检的软骨 活检皮肤 achondrogenesis 和 活检皮肤 X射线 achondrogenesis 和 X射线 欲了解更多请登录，登录是免费的（点击登陆） 治疗程序为 'achondrogenesis'? 管理或治疗疾病应始终取决于患者的卫生保健提供者. 以下是有关治疗程序或药物 achondrogenesis: 治疗程序的搜索结果 'achondrogenesis' 排名是计算机生成的. 请咨询您的卫生保健提供者. 药品的搜索结果 'achondrogenesis' 排名是计算机生成的. 请咨询您的卫生保健提供者. 网络搜索结果 achondrogenesis 网站（所有）  |  治疗  |  药品  |  试验  |  研究  |  饮食 结果 1 - 50 - achondrogenesis Achondrogenesis - Wikipedia, the free encyclopedia [翻译此页] Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia ... Retrieved from "http://en.wikipedia.org/wiki/Achondrogenesis" ... http://en.wikipedia.org/wiki/Achondrogenesis   en.wikipedia.org - summary Achondrogenesis - Genetics Home Reference [翻译此页] Achondrogenesis is a group of severe disorders that affect cartilage and bone development. ... Infants with achondrogenesis type 2, which is sometimes called ... http://ghr.nlm.nih.gov/condition=achondrogenesis   ghr.nlm.nih.gov - summary Achondrogenesis - Yahoo! Health [翻译此页] Important It is possible that the main title of the report Achondrogenesis is not the name you expected. Please check the synonyms listing to find the alternate ... http://health.yahoo.com/musculoskeletal-overview/achondrogen...   health.yahoo.com - summary Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and ... [翻译此页] ... the two foetuses (18 and 21 weeks old) had achondrogenesis type IB (Fraccaro) ... but it is unlikely to be the primary defect in achondrogenesis type I. ... http://www.ncbi.nlm.nih.gov/pubmed/8160740   www.ncbi.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Achondrogenesis [翻译此页] Achondrogenesis is a rare type of growth hormone deficiency in which there is a ... Many infants with achondrogenesis are stillborn or die shortly after birth ... http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm   www.nlm.nih.gov - summary Achondrogenesis - Related Gene(s) - Genetics Home Reference [翻译此页] Genetic Conditions > achondrogenesis > Related Gene(s) COL2A1: collagen, type II, alpha 1 ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=achondrogenesis/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Achondrogenesis Type 1B [翻译此页] Clinical features of achondrogenesis type 1B (ACG1B) include ... The term achondrogenesis (Greek for "not producing cartilage") was given by the pathologist ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Achondrogenesis - References - Genetics Home Reference [翻译此页] Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ... Achondrogenesis. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. PubMed citation ... http://ghr.nlm.nih.gov/condition=achondrogenesis/show/References   ghr.nlm.nih.gov - summary A COL2A1 mutation in achondrogenesis type II results in the replacement ... [翻译此页] A COL2A1 mutation in achondrogenesis type II results in the replacement of type ... was identified in a fetus with achondrogenesis type II. A transition of G2853 to ... http://www.ncbi.nlm.nih.gov/pubmed/7829510   www.ncbi.nlm.nih.gov - summary Achondrogenesis [翻译此页] Achondrogenesis is a defect in the development of bone and cartilage. ... Many infants with achondrogenesis are stillborn or die shortly after birth ... http://adam.about.com/encyclopedia/001247trt.htm   adam.about.com - summary COL2A1 - NextBio [翻译此页] ... gene are associated with achondrogenesis, chondrodysplasia, early onset familial ... Achondrogenesis, type II. LASP1 gene. Iliacus. Kniest dysplasia ... http://www.nextbio.com/b/home/home.nb?q=COL2A1   www.nextbio.com - summary Achondrogenesis Type 1B -- GeneReviews -- NCBI Bookshelf [翻译此页] Clinical features of achondrogenesis type 1B (ACG1B) include extremely short ... Achondrogenesis is subtyped according to radiologic and histopathologic ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achon1b   www.ncbi.nlm.nih.gov - summary Health Topics aa to ae [翻译此页] Absence Defect of Limbs, Scalp and Skull. Absence of Corpus ... Achondrogenesis. Achondroplasia. Achondroplastic Dwarfism. Acid Beta-glucosidase Deficiency ... http://www.webmd.com/a-to-z-guides/health-topics/default.htm   www.webmd.com - summary SLC26A2 - Related Condition(s) - Genetics Home Reference [翻译此页] achondrogenesis. atelosteogenesis type 2. diastrophic dysplasia. multiple epiphyseal dysplasia ... Lister Hill National Center for Biomedical Communications ... http://www.ghr.nlm.nih.gov/gene=slc26a2/show/Related+Condition(s)   www.ghr.nlm.nih.gov - summary COL2A1 - collagen, type II, alpha 1 - Genetics Home Reference [翻译此页] achondrogenesis - caused by mutations in the COL2A1 gene ... the COL2A1 gene cause a form of achondrogenesis known as type 2. Some mutations ... http://ghr.nlm.nih.gov/gene=col2a1   ghr.nlm.nih.gov - summary Health Encyclopedia from A to Z on Yahoo! Health [翻译此页] Health encyclopedia of diseases and conditions covering signs, symptoms, causes, incidence, risk, prevention, tests, diagnosis, treatment, complications and side effects. http://health.yahoo.com/ency/   health.yahoo.com - summary Search Results - Genetics Home Reference [翻译此页] Found: Achondrogenesis is a group of severe disorders that affect... Found: Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) ... http://ghr.nlm.nih.gov/ghr/search;jsessionid=EBE479F0A67B883...   ghr.nlm.nih.gov - summary PMID 10797431 [翻译此页] ... mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ... DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. ... http://www.ncbi.nlm.nih.gov/pubmed/10797431   www.ncbi.nlm.nih.gov - summary Nonexpression of cartilage type II collagen in a case of Langer-Saldino ... [翻译此页] ... Langer-Saldino variant of achondrogenesis by radiological, histological, and ... chondrogenesis imperfecta rather than achondrogenesis should be considered a ... http://www.ncbi.nlm.nih.gov/pubmed/3752081   www.ncbi.nlm.nih.gov - summary Talk:Achondrogenesis - Wikipedia, the free encyclopedia [翻译此页] Talk:Achondrogenesis. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Achondrogenesis" ... http://en.wikipedia.org/wiki/Talk:Achondrogenesis   en.wikipedia.org - summary Hypochondrogenesis - Genetics Home Reference [翻译此页] Affected infants have short arms and legs, a small chest with ... Hypochondrogenesis and achondrogenesis, type 2 (a similar ... Achondrogenesis ... http://ghr.nlm.nih.gov/condition=hypochondrogenesis   ghr.nlm.nih.gov - summary SLC gene family - Genetics Home Reference [翻译此页] The SLC family includes approximately 300 genes that provide ... achondrogenesis. Allan-Herndon-Dudley syndrome. Amish lethal microcephaly. Andermann syndrome ... http://www.ghr.nlm.nih.gov/geneFamily=slc   www.ghr.nlm.nih.gov - summary MedlinePlus: Dwarfism [翻译此页] Includes an overview, answers to frequently asked questions, and more. http://www.nlm.nih.gov/medlineplus/dwarfism.html   www.nlm.nih.gov - summary MedTerms Medical Dictionary A-Z List - A [翻译此页] Achondrogenesis. Achondrogenesis type II. Achondrogenesis, Langer-Saldino type. Achondrogenesis-hypochondrogenesis, type II. Achondroplasia. Achoo syndrome ... http://www.medicinenet.com/htmlalphaidx/dict_A.htm   www.medicinenet.com - summary Bone Diseases - Genetics Home Reference [翻译此页] ... Reference: 3-M syndrome. achondrogenesis. achondroplasia. ankylosing spondylitis. Apert syndrome ... platyspondylic lethal skeletal dysplasia, Torrance type ... http://ghr.nlm.nih.gov/conditionGroup=bonediseases   ghr.nlm.nih.gov - summary AceView: gene:COL2A1, a comprehensive annotation of human, mouse and ... [翻译此页] AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... achondrogenesis, chondrodysplasia, ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=COL2A1   www.ncbi.nlm.nih.gov - summary Connective Tissue Disorders - Genetics Home Reference [翻译此页] Related topics on Genetics Home Reference: achondrogenesis. alpha-1 antitrypsin deficiency ... platyspondylic lethal skeletal dysplasia, Torrance type ... http://ghr.nlm.nih.gov/conditionGroup=connectivetissuedisorders   ghr.nlm.nih.gov - summary OMIM Update List for September, 1996 [翻译此页] 200700 ACHONDROGENESIS, GREBE TYPE. 200710 ACHONDROGENESIS, TYPE III. 200720 ACHONDROGENESIS, TYPE IV. 203750 ALPHA ... 600972 ACHONDROGENESIS, TYPE IB; ACG1B ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.1996   www.ncbi.nlm.nih.gov - summary Dwarfism - Genetics Home Reference [翻译此页] Related topics on Genetics Home Reference: 3-M syndrome. achondrogenesis. achondroplasia. asphyxiating thoracic dystrophy. atelosteogenesis type 2 ... http://ghr.nlm.nih.gov/conditionGroup=dwarfism   ghr.nlm.nih.gov - summary 7757081 [翻译此页] ... biochemical and molecular analysis of a case of achondrogenesis type ... a continuous spectrum of clinical severity, ranging from lethal achondrogenesis ... http://www.ncbi.nlm.nih.gov/pubmed/7757081   www.ncbi.nlm.nih.gov - summary ADAM Health Encyclopedia [翻译此页] Achondrogenesis. Achondroplasia. Acidosis. Acidosis - metabolic. Acidosis - respiratory ... Age-related macular degeneration (AMD), AMD, Senile macular ... http://adam.about.com/encyclopedia/diseidxa.htm   adam.about.com - summary Chromosome 5 - Conditions related to genes on chromosome 5 - Genetics ... [翻译此页] achondrogenesis. amyotrophic lateral sclerosis. ankylosing spondylitis. atelosteogenesis type 2 ... 3-methylcrotonyl-coenzyme A carboxylase deficiency. Milroy ... http://ghr.nlm.nih.gov/chromosome=5/show/Conditions   ghr.nlm.nih.gov - summary OMIM Update List for July, 1996 [翻译此页] Clinical Synopsis for 200600 ACHONDROGENESIS, TYPE I. Clinical Synopsis for 200610 ACHONDROGENESIS, TYPE II. Clinical Synopsis for 200700 ACHONDROGENESIS, GREBE TYPE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1996   www.ncbi.nlm.nih.gov - summary COL2A1 - Related Condition(s) - Genetics Home Reference [翻译此页] achondrogenesis. Czech dysplasia. hypochondrogenesis. Kniest dysplasia. platyspondylic lethal skeletal dysplasia, Torrance type ... http://ghr.nlm.nih.gov/gene=col2a1/show/Related+Condition(s)   ghr.nlm.nih.gov - summary Atelosteogenesis Type 2 -- GeneReviews -- NCBI Bookshelf [翻译此页] Achondrogenesis 1B (ACG1B), among the most severe skeletal disorders in humans, ... are responsible for the family of chondrodysplasias including achondrogenesis ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ao2   www.ncbi.nlm.nih.gov - summary SLC26A2 - Gene Reviews - Clinical summary - Genetics Home Reference [翻译此页] Gene Review: Achondrogenesis Type 1B. Gene Review: Atelosteogenesis Type 2 ... U.S. National Library of Medicine, National Institutes of Health ... http://ghr.nlm.nih.gov/gene=slc26a2/show/Gene+Reviews   ghr.nlm.nih.gov - summary 600972 [翻译此页] http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600972   www.ncbi.nlm.nih.gov - summary SLC26A2 - NextBio [翻译此页] SLC26A2: The diastrophic dysplasia sulfate transporter is a transmembrane ... Achondrogenesis. Flurandrenolone. Colon. Ulcerative colitis. Piroxicam. Epidermal cell ... http://www.nextbio.com/b/home/home.nb?q=SLC26A2   www.nextbio.com - summary Chromosome 12 - Conditions related to genes on chromosome 12 - Genetics ... [翻译此页] achondrogenesis. amyotrophic lateral sclerosis. congenital fibrosis of the extraocular muscles ... platyspondylic lethal skeletal dysplasia, Torrance type ... http://ghr.nlm.nih.gov/chromosome=12/show/Conditions   ghr.nlm.nih.gov - summary Multiple Epiphyseal Dysplasia, Recessive -- GeneReviews -- NCBI Bookshelf [翻译此页] Achondrogenesis 1B (ACG1B) is among the most severe skeletal disorders in humans. ... spectrum that goes from lethal achondrogenesis 1B (ACG1B) to mild EDM4 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=edm   www.ncbi.nlm.nih.gov - summary Collagen, type II, alpha 1 - Wikipedia, the free encyclopedia [翻译此页] Achondrogenesis type 2: Several kinds of mutations in the COL2A1 gene are ... A COL2A1 mutation in achondrogenesis type II results in the replacement of type ... http://en.wikipedia.org/wiki/Collagen,_type_II,_alpha_1   en.wikipedia.org - summary Hypochondrogenesis - MedlinePlus - Health information - Genetics Home ... [翻译此页] Encyclopedia: Achondrogenesis. Health Topic: Connective Tissue Disorders. Health Topic: Dwarfism ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=hypochondrogenesis/show/MedlinePlus   ghr.nlm.nih.gov - summary Stickler Syndrome -- GeneReviews -- NCBI Bookshelf [翻译此页] Achondrogenesis type II (OMIM: 200610) ... Achondrogenesis Type II is inherited in an autosomal dominant manner. ... dwarfism: achondrogenesis and ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler   www.ncbi.nlm.nih.gov - summary Hypochondrogenesis - References - Genetics Home Reference [翻译此页] Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. ... mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ... http://ghr.nlm.nih.gov/condition=hypochondrogenesis/show/References   ghr.nlm.nih.gov - summary PubMed Link Image [翻译此页] Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia ... 100-2 Department of Pediatrics, University of Zurich, University Children's ... http://www.ncbi.nlm.nih.gov/pubmed/8528239   www.ncbi.nlm.nih.gov - summary Otospondylomegaepiphyseal dysplasia - Wikipedia, the free encyclopedia [翻译此页] Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia ... COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall ... http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia   en.wikipedia.org - summary MedlinePlus: Connective Tissue Disorders [翻译此页] The primary NIH organization for research on Connective Tissue Disorders is the ... Genetics Home Reference: Achondrogenesis(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html   www.nlm.nih.gov - summary Spondyloepiphyseal dysplasia congenita - Wikipedia, the free encyclopedia [翻译此页] Achondrogenesis (type 2) · Hypochondrogenesis. SLC26A2 sulfation defect. Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia ... http://en.wikipedia.org/wiki/Spondyloepiphyseal_dysplasia_congenita   en.wikipedia.org - summary MedlinePlus Medical Encyclopedia: Topics beginning with A-Ag [翻译此页] Skip navigation. Other encyclopedia topics: ... A1AT test see Alpha-1 antitrypsin. A1C see HbA1c ... Achondrogenesis. Achondroplasia. Achromacria see Arachnodactyly ... http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_A-Ag.htm   www.nlm.nih.gov - summary COL2A1 - References - Genetics Home Reference [翻译此页] A COL2A1 mutation in achondrogenesis type II results in the replacement of type ... mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ... http://ghr.nlm.nih.gov/gene=col2a1/show/References   ghr.nlm.nih.gov - summary 显示更多 1  2