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カテゴリ 骨ミネラル代謝, 先天性遺伝子オレゴン, orthopedics 周波数 珍しい (U.S.)

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関連医師の種類 family practitioner internist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

タイプシュミット骨幹端軟骨異形成 - 遺伝性疾患が原因と手足や身長を下げた に定義されています タイプシュミット骨幹端軟骨異形成 http://health.yahoo.com/ency/healthwise/nord960 いくつかの共通の現象 異常歩行 お辞儀を手足 足の痛み 低身長 いくつかの関連診断 1 - 7 of 11 診断 骨軟骨腫 骨軟化症 変形性関節症 セリアック病 不良 梅毒 骨形成不全症のタイプIIIおよびIV   より 私はありますか？ 'タイプシュミット骨幹端軟骨異形成'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために 'タイプシュミット骨幹端軟骨異形成' 1 - 5 of 10 診断テスト 分子遺伝学的研究 タイプシュミット骨幹端軟骨異形成 および 分子遺伝学的研究 骨格X線調査 タイプシュミット骨幹端軟骨異形成 および 骨格X線調査 X線骨盤 タイプシュミット骨幹端軟骨異形成 および X線骨盤 X線棘がある タイプシュミット骨幹端軟骨異形成 および X線棘がある X線の足の足 タイプシュミット骨幹端軟骨異形成 および X線の足の足 X線の手 タイプシュミット骨幹端軟骨異形成 および X線の手 X線の頭蓋骨 タイプシュミット骨幹端軟骨異形成 および X線の頭蓋骨 絨毛は、CVSをサンプリング絨毛 タイプシュミット骨幹端軟骨異形成 および 絨毛は、CVSをサンプリング絨毛 出生前超音波 Ultrasound on the fetus before birth タイプシュミット骨幹端軟骨異形成 および 出生前超音波 X線 タイプシュミット骨幹端軟骨異形成 および X線 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 治療の手順を 'タイプシュミット骨幹端軟骨異形成'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です metaphyseal chondrodysplasia Schmid type: 治療の手順の検索結果 'タイプシュミット骨幹端軟骨異形成' 1 - 2 of 2 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 整形外科ケア タイプシュミット骨幹端軟骨異形成 および 整形外科ケア X線の足の足 タイプシュミット骨幹端軟骨異形成 および X線の足の足 薬の検索結果 'タイプシュミット骨幹端軟骨異形成' ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. ウェブ検索結果調査のための タイプシュミット骨幹端軟骨異形成 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - alpha 1 Metaphyseal Chondrodysplasia, Schmid Type - Yahoo! Health Important It is possible that the main title of the report Metaphyseal Chondrodysplasia, Schmid Type is not the name you expected. Please check the synonyms listing ... http://health.yahoo.com/musculoskeletal-resources/metaphysea...   health.yahoo.com - summary Orphanet: Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Schmid type. Orpha number. ORPHA174. Prevalence of rare diseases ... Schmid metaphyseal chondrodysplasia is a rare disorder ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=174   www.orpha.net - summary Schmid metaphyseal chondrodysplasia - Wikipedia, the free encyclopedia Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients" ... human and mouse metaphyseal chondrodysplasia type Schmid". Hum. ... http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia   en.wikipedia.org - summary A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. The expression of type X collagen is restricted to hypertrophic chondrocytes in ... dominant Schmid metaphyseal chondrodysplasia in a large Mormon kindred (lod ... http://www.ncbi.nlm.nih.gov/pubmed/8220429   www.ncbi.nlm.nih.gov - summary Jansen's metaphyseal chondrodysplasia - Wikipedia, the free encyclopedia METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE GenomeNet ... Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid ... http://en.wikipedia.org/wiki/Jansen's_metaphyseal_chondrodysplasia   en.wikipedia.org - summary Concentration of mutations causing Schmid metaphyseal chondrodysplasia ... ... chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. ... Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the ... http://www.ncbi.nlm.nih.gov/pubmed/7749409   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Metaphyseal Chondrodysplasia Schmid Type ... http://www.webmd.com/a-to-z-guides/health-topics/ma-me.htm   www.webmd.com - summary COL10A1 - NextBio ... This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by ... Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type ... http://www.nextbio.com/b/home/home.nb?q=COL10A1   www.nextbio.com - summary Osteochondrodysplasia - Wikipedia, the free encyclopedia Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid ... Achondrogenesis (type 2) · Hypochondrogenesis. SLC26A2 sulfation defect ... http://en.wikipedia.org/wiki/Osteochondrodysplasia   en.wikipedia.org - summary 156500 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156500   www.ncbi.nlm.nih.gov - summary Osteochondrodysplasias: Bone and Connective Tissue Disorders in ... Peroxisomal type 2 targeting signal receptor (PTS2) ... Metaphyseal chondrodysplasia.? In some forms, malabsorption, neutropenia, thymolymphopenia ... http://www.merck.com/mmpe/print/sec19/ch284/ch284k.html   www.merck.com - summary PMID 8782043 ... metaphyseal chondrodysplasia type Schmid but not several other forms of ... been identified in subjects with metaphyseal chondrodysplasia type Schmid (MCDS) ... http://www.ncbi.nlm.nih.gov/pubmed/8782043   www.ncbi.nlm.nih.gov - summary Atelosteogenesis, type II - Wikipedia, the free encyclopedia Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia ... Achondrogenesis (type 2) · Hypochondrogenesis. SLC26A2 ... http://en.wikipedia.org/wiki/Atelosteogenesis,_type_II   en.wikipedia.org - summary Osteochondrodysplasias: Bone and Connective Tissue Disorders in ... Peroxisomal type 2 targeting signal receptor (PTS2) ... Metaphyseal chondrodysplasia.? In some forms, malabsorption, neutropenia, thymolymphopenia ... http://www.merck.com/mmpe/sec19/ch284/ch284k.html   www.merck.com - summary Amino acid substitutions of conserved residues in the carboxyl-terminal ... ... of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. ... individuals with metaphyseal chondrodysplasia type ... http://www.ncbi.nlm.nih.gov/pubmed/8304336   www.ncbi.nlm.nih.gov - summary PMID 9067753 ... type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. 131-5 Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, ... http://www.ncbi.nlm.nih.gov/pubmed/9067753   www.ncbi.nlm.nih.gov - summary Spondyloepimetaphyseal dysplasia - Wikipedia, the free encyclopedia COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall ... COL10: Schmid metaphyseal chondrodysplasia ... http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type   en.wikipedia.org - summary MIM Gene map Metaphyseal chondrodysplasia, Schmid type (3); Spondylometaphysealdysplasia, Japanese type (3) ... Nephropathy, IgA type (2) Fd. Copyright © 1966-2009 Johns ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=6q21   www.ncbi.nlm.nih.gov - summary MIM Gene map Metaphyseal chondrodysplasia, Schmid type (3); Spondylometaphysealdysplasia, Japanese type (3) ... Nephropathy, IgA type (2) Fd. 6q22-q23. LAMA2, LAMM. Laminin, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d4047   www.ncbi.nlm.nih.gov - summary Collagenopathy, types II and XI - Wikipedia, the free encyclopedia spondyloepimetaphyseal dysplasia, Strudwick type. spondyloepiphyseal dysplasia congenita ... COL10: Schmid metaphyseal chondrodysplasia ... http://en.wikipedia.org/wiki/Collagenopathy,_types_II_and_XI   en.wikipedia.org - summary MIM Gene map Metaphyseal chondrodysplasia, Schmid type (3); Spondylometaphysealdysplasia, Japanese type (3) ... Nephropathy, IgA type (2) Fd. 6q22-q23. LAMA2, LAMM. Laminin, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l603423   www.ncbi.nlm.nih.gov - summary MIM Gene map Metaphyseal chondrodysplasia, Schmid type (3); Spondylometaphysealdysplasia, Japanese type (3) ... 164200 (3); Syndactyly, type III,186100 (3); Hypoplastic ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l609758   www.ncbi.nlm.nih.gov - summary PMID 8004099 ... type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. ... to segregate with Schmid metaphyseal chondrodysplasia, an autosomal dominant ... http://www.ncbi.nlm.nih.gov/pubmed/8004099   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ... ... 13 0.02% cetoacidose 13 0.02% chondrodysplasia punctata 13 0.02% collagenous ... bowen-conradi syndrome 5 0.01% brachydactyly type d 5 0.01% brugada syndrome ekg ... http://orphanet.orpha.net/stat/orphanet/search_200703.html   orphanet.orpha.net - summary MIM Gene map Metaphyseal chondrodysplasia, Schmid type (3); Spondylometaphysealdysplasia, Japanese type (3) ... Nephropathy, IgA type (2) Fd. 6q22-q23. LAMA2, LAMM. Laminin, ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d4044   www.ncbi.nlm.nih.gov - summary Metaphyseal Chondrodysplasia, Schmid Type Important It is possible that the main title of the report Metaphyseal Chondrodysplasia, Schmid Type is not the name you expected. ... http://www.webmd.com/children/Metaphyseal-Chondrodysplasia-Schmid-Type   www.webmd.com - summary WG Cole - NextBio ... plate in human and mouse metaphyseal chondrodysplasia type Schmid. ... BACKGROUND: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally ... http://www.nextbio.com/b/literature/literature.nb?author=WG+Cole   www.nextbio.com - summary Orphanet: Diseases list Metaphyseal chondrodysplasia - retinitis pigmentosa. Metaphyseal chondrodysplasia, Schmid type. Metaphyseal chondrodysplasia, Spahr type ... http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=M   www.orpha.net - summary Collagen, type X, alpha 1 (COL10A1) Human protein-coding gene COL10A1. Represented by 35 ESTs from 23 cDNA libraries. ... {C-terminal} [human, metaphyseal chondrodysplasia type Schmid patient, mRNA ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=520339   www.ncbi.nlm.nih.gov - summary PMID 16838329 ... (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is ... of these patients, the diagnosis of Schmid type MCD (OMIM # 156500) was made and ... http://www.ncbi.nlm.nih.gov/pubmed/16838329   www.ncbi.nlm.nih.gov - summary Type X collagen multimer assembly in vitro is prevented by a Gly618 to ... ... alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. ... a family with Schmid metaphyseal chondrodysplasia demonstrated that the affected ... http://www.ncbi.nlm.nih.gov/pubmed/7876225   www.ncbi.nlm.nih.gov - summary A novel mutation substituting tryptophan with arginine in the carboxyl ... ... identified in a Japanese family with Schmid metaphyseal chondrodysplasia (SMCD) ... in type X collagens, and 4, the mutation causes a marked change in the ... http://www.ncbi.nlm.nih.gov/pubmed/8554571   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ... ... fibrosis pulmonar 11 0.03% gitelman 11 0.03% glycogen storage disease type 1a ... 9 0.02% chondrodysplasia punctata 9 0.02% collagenous colitis more: ... http://www.orpha.net/stat/orphanet/search_200608.html   www.orpha.net - summary PMID 8986632 Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and ... 112-7 Schmid metaphyseal chondrodysplasia (SMCD; MIM 156500) is an autosomal ... http://www.ncbi.nlm.nih.gov/pubmed/8986632   www.ncbi.nlm.nih.gov - summary Sack-Barabas syndrome - Wikipedia, the free encyclopedia COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall ... COL10: Schmid metaphyseal chondrodysplasia ... http://en.wikipedia.org/wiki/Ehlers-Danlos_syndrome,_vascular_type   en.wikipedia.org - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ... tumeur stromale 5 0.01% type 4 hyperlipidemia 5 0.01% types of biliary atresia 5 ... 0.01% rhizomelic chondrodysplasia punctata 4 0.01% rhumatisme articulaire aigu 4 ... http://www.orpha.net/stat/orphanet/search_200609.html   www.orpha.net - summary OMIM Update List for October, 2005 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 ... for 609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH ... 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2005   www.ncbi.nlm.nih.gov - summary OMIM Update List for November, 2004 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS ... 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE. 119530 OROFACIAL CLEFT 1; OFC1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2004   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Fevrier ... ... camptodactilia 20 0.03% carcinoma papillare 20 0.03% chondrodysplasia punctata ... hyperglycinemia 5 0.01% hyperlipidemia type 4 5 0.01% hypertrichosis lanuginosa ... http://www.orpha.net/stat/orphanet/search_200702.html   www.orpha.net - summary OMIM Update List for February, 2005 130000 EHLERS-DANLOS SYNDROME, TYPE I ... for 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, ... 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2005   www.ncbi.nlm.nih.gov - summary List of diseases (M) - Wikipedia, the free encyclopedia McKusick type metaphyseal chondrodysplasia. McLain Debakian syndrome. McPherson Clemens ... Metaphyseal anadysplasia. Metaphyseal chondrodysplasia Schmid type ... http://en.wikipedia.org/wiki/List_of_diseases_(M)   en.wikipedia.org - summary OMIM Update List for June, 2005 ... CHONDRODYSPLASIA, ACROMESOMELIC, ... 609162 CZECH DYSPLASIA, METATARSAL TYPE ... Clinical Synopsis for 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2005   www.ncbi.nlm.nih.gov - summary 11839302 Mutations in the NC1 domain cause Schmid metaphyseal chondrodysplasia (SMCD) ... Collagen Type X chemistry genetics Crystallography, X-Ray Exostoses, Multiple ... http://www.ncbi.nlm.nih.gov/pubmed/11839302   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2007 ... ... higashi 9 0.01% cholesterol biosynthesis 9 0.01% chondrodysplasia punctata 9 ... comun variable 5 0.01% jansen metaphyseal dysplasia 5 0.01% klippel feil 5 ... http://www.orpha.net/stat/orphanet/search_200704.html   www.orpha.net - summary Deletions in the COL10A1 gene are not associated with skeletal changes ... Type 10 collagen alpha 1 (COL10A1) is a short-chain collagen of cartilage ... metaphyseal chondrodysplasia (SMCD), a cartilage disorder characterized by short ... http://www.ncbi.nlm.nih.gov/pubmed/16845471   www.ncbi.nlm.nih.gov - summary PMID 8012364 ... mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. 507-9 Department of Medicine, Thomas Jefferson University, Philadelphia, PA ... http://www.ncbi.nlm.nih.gov/pubmed/8012364   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ... ... pigmentada 3 0.01% sintesis de schmid's 3 0.01% sintrome turner 3 0.01 ... 2 0.00% brachytelephalangic type chondrodysplasia punctata 2 0.00% bradykinà ... http://www.orpha.net/stat/orphanet/search_200803.html   www.orpha.net - summary Metaphyseal chondrodysplasia, Schmid type http://www.nextbio.com/b/home/home.nb?q=Metaphyseal+chondrod...   www.nextbio.com - summary OMIM Update List for March, 2007 ... CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B ... IMPERFECTA, TYPE VII ... 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS. 171880 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2007   www.ncbi.nlm.nih.gov - summary Collagen, type X, alpha 1 - Wikipedia, the free encyclopedia Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia), also known as ... metaphyseal chondrodysplasia type Schmid but not several other forms of ... http://en.wikipedia.org/wiki/COL10A1   en.wikipedia.org - summary もっと表示 1  2