SE-ATLAS

Dysplasie avec gracilité osseuse Dysplasie osseuse primaire condensante Dysplasie osseuse primaire avec hypodensité osseuse Ostéolyse primaire Dysplasie osseuse primaire avec développement anarchique d'un élément du squelette Maladie d'Ollier Syndrome de Maffucci Syndrome d'ostéosclérose-ichtyose-insuffisance ovarienne précoce Rachitisme hypocalcémique Dysplasie campomélique Hyperparathyroïdie primitive sévère néonatale Rachitisme hypophosphatémique Hypercalcémie hypocalciurique familiale type 2 Hypercalcémie hypocalciurique familiale type 1 Dysplasie multi-épiphysaire et pseudoachondroplasie Dysplasie métaphysaire multiple Dysplasie osseuse primaire avec micromélie Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire Dysplasie acromélique Dysplasie mésomélique et rhizo-mésomélique Dysplasie osseuse primaire avec luxations articulaires multiples Hypercalcémie hypocalciurique familiale type 3 Achondroplasie Dysplasie osseuse primaire avec ossification progressive de la peau, des muscles squelettiques, fascias, tendons et ligaments Syndrome de Cole-Carpenter Progéria de Nestor-Guillermo Chondrodysplasie avec luxation articulaire type gPAPP Anadysplasie métaphysaire Syndrome de Roifman Syndrome rhizomélique type Urbach Syndrome de Richieri-Costa-da Silva Gérodermie ostéodysplasique Syndrome de petite taille-onychodysplasie-dysmorphie faciale-hypotrichose Dysplasie spondylo-mégaépiphysaire-métaphysaire Syndrome de Robinow autosomique dominant Dysplasie acromésomélique type Maroteaux Dysplasie mandibulo-acrale avec lipodystrophie de type A Dysplasie mandibulo-acrale avec lipodystrophie de type B Syndrome de Grant Dysplasie acromésomélique type Grebe Ostéopétrose d'Albers-Schönberg Dysplasie dyssegmentaire type Rolland-Desbuquois Dysplasie spondylo-épimétaphysaire type matrilin-3 Syndrome de Hallermann-Streiff Hip dysplasia, Beukes type Schneckenbecken dysplasia Diaphanospondylodysostosis Sclerosteosis Robinow syndrome Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Saldino-Noonan type Thanatophoric dysplasia type 2 Monostotic fibrous dysplasia Polyostotic fibrous dysplasia Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepiphyseal dysplasia tarda Autosomal recessive Stickler syndrome Spondylocamptodactyly syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly Hypochondrogenesis Auriculoosteodysplasia Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia, Maroteaux type Autosomal dominant brachyolmia Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 5 Infantile systemic hyalinosis Multiple epiphyseal dysplasia, Lowry type Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Sedaghatian type Stüve-Wiedemann syndrome Progressive pseudorheumatoid arthropathy of childhood Multiple epiphyseal dysplasia, Al-Gazali type CHILD syndrome Autosomal dominant Kenny-Caffey syndrome Autosomal recessive Kenny-Caffey syndrome Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Autosomal recessive omodysplasia Brachydactyly-short stature-retinitis pigmentosa syndrome Autosomal dominant omodysplasia Multiple epiphyseal dysplasia, with miniepiphyses Metaphyseal chondrodysplasia, Kaitila type Trichorhinophalangeal syndrome X-linked calvarial hyperostosis Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Microcephalic primordial dwarfism Spondyloepimetaphyseal dysplasia congenita, Strudwick type Reunion Island Larsen-like syndrome Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Shohat type SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia with joint laxity Platyspondylic dysplasia, Torrance type Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Rhizomelic chondrodysplasia punctata Craniofacial conodysplasia Alazami syndrome IMAGe syndrome Astley-Kendall dysplasia Cherubism Diaphyseal medullary stenosis-bone malignancy syndrome Craniometadiaphyseal dysplasia, wormian bone type Singleton-Merten dysplasia Idiopathic juvenile osteoporosis Familial expansile osteolysis Spondylo-ocular syndrome Nodulosis-arthropathy-osteolysis syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Autosomal dominant otospondylomegaepiphyseal dysplasia Osteopetrosis-hypogammaglobulinemia syndrome Isolated osteopoikilosis Boomerang dysplasia Dyggve-Melchior-Clausen disease Ciliopathies with major skeletal involvement Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Multiple epiphyseal dysplasia Acromesomelic dysplasia Spondylometaphyseal dysplasia Chondrodysplasia punctata Primary bone dysplasia with defective bone mineralization SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Weismann-Netter syndrome Lethal chondrodysplasia Buschke-Ollendorff syndrome Kenny-Caffey syndrome Ellis Van Creveld syndrome Desmosterolosis Lethal Kniest-like dysplasia Camurati-Engelmann disease Madelung deformity, unilateral Spondyloepimetaphyseal dysplasia, Handigodu type Cheirospondyloenchondromatosis Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Larsen-like osseous dysplasia-short stature syndrome Disorders of vitamin D metabolism Hyperostosis corticalis generalisata X-linked dominant chondrodysplasia punctata Phalangeal microgeodic syndrome Hypocalcemic vitamin D-dependent rickets Torg-Winchester syndrome Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Lethal chondrodysplasia, Seller type Lethal recessive chondrodysplasia Desbuquois syndrome Familial hypocalciuric hypercalcemia Mandibuloacral dysplasia X-linked skeletal dysplasia-intellectual disability syndrome Cleidorhizomelic syndrome Melnick-Needles syndrome Melorheostosis Mesomelia-synostoses syndrome Upper limb mesomelic dysplasia Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome Spondyloepiphyseal dysplasia with metatarsal shortening Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Thin ribs-tubular bones-dysmorphism syndrome Coxoauricular syndrome Craniodiaphyseal dysplasia Larsen-like syndrome, B3GAT3 type Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, tibial-metacarpal type Larsen syndrome FGFR2-related bent bone dysplasia Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Dysplasie, spondyloepimetaphysäre, Typ Geneviève Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel Dakryozystitis-Osteopoikilose-Syndrom Stickler-Syndrom Typ 1 Stickler-Syndrom Typ 2 McCune-Albright-Syndrom 3M-Syndrom Kleinwuchs, geleophysischer Dysplasie, mesomele, Typ Nievergelt Metatrope Dysplasie Fibula-Aplasie - komplexe Brachydaktylie Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose Dysplasie, osteoglophone Thanatophore Dysplasie Dysplasie, spondylometaphysäre, Typ Golden Dysplasie, spondyloepimetaphysäre, axiale Form Dysplasie, spondyloepimetaphysäre, Typ A4 Foramina parietalia, vergrößerte Syndrom der Osteolyse von Talus, Patella und Skaphoid Wolcott-Rallison-Syndrom Osteogenesis imperfecta Oto-palato-digitales Syndrom Pankreasinsuffizienz - Anämie - Hyperostose Omodysplasie Cutis laxa, autosomal-rezessive, Typ 2A Osteokraniostenose Osteochondromatose, karpotarsale Nasu-Hakola-Krankheit Osteogenesis imperfecta - Mikrozephalie - Katarakte Multizentrische karpotarsale Osteolyse mit oder ohne Nephropathie Schwere laterale Tibiaverkrümmung-Kleinwuchs-milde Scapula alata-Gesichtsdysmorphie-Syndrom Osteomesopyknose Osteopathia striata - kraniale Sklerose Chondroektodermale Dysplasie mit Nachtblindheit Osteopetrose, autosomal-dominante, Typ 1 Osteopetrose mit renaler tubulärer Azidose Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 Hutchinson-Gilford-Syndrom Dyschondrosteose - Nephritis Endostale Hyperostose, Typ Worth Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Silver-Russell-Syndrom durch Mikroduplikation 11p15 Pseudoachondroplasie Paget-Syndrom, juveniles Osteogenesis imperfecta Typ 4 Osteogenesis imperfecta Typ 5 Dysostose, periphere Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen Dysplasie, hämatodiaphysäre, Typ Ghosal Dysplasie, rhizomele, Typ Patterson-Lowry Lowry-Wood-Syndrom Dysplasie, fronto-metaphysäre Knochendysplasie, osteosklerotische, letale Form Shwachman-Diamond-Syndrom Silver-Russell-Syndrom Kleinwuchs Typ Brüssel Stickler-Syndrom Spondyloperiphere Dysplasie mit kurzer Ulna Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom Thanatophore Dysplasie Typ 1 Dysplasie, dyssegmentale, Typ Silverman-Handmaker Rachitis, hypophosphatämische, autosomal-dominante Brachyolmie-Amelogenesis imperfecta-Syndrom Hypophosphatasie, benigne pränatale Melorheostose mit Osteopoikilosis Hypophosphatasie, infantile Mikrodeletionssyndrom 12q14 Hypophosphatasie des Erwachsenen Epiphysäre Tüpfelung-osteoklastische Hyperplasie-Syndrom Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Pyknoachondrogenesie Dysplasie, akromesomele, Typ Hunter-Thompson Ramon-Syndrom Dysplasie, akro-capito-femorale Intelligenzminderung-Glatzenbildung-Patellaluxation-Akromikrie-Syndrom Rachitis, hypokalzämische, Vitamin D-resistente Dysplasie, anauxetische Dysplasie, spondyloepimetaphysäre, X-chromosomale Atelosteogenesis Typ I Osteoporose mit Knochenbrüchen, X-chromosomal Schwere Achondroplasie-Entwicklungsverzögerung-Acanthosis nigricans-Syndrom Chondrodysplasie, metaphysäre, Typ Schmid Spondylometaphysäre Dysplasie mit Zapfen-Stäbchendystrophie Knorpel-Haar-Hypoplasie Chondrodysplasia punctata, nicht-rhizomeler Typ Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ Smith-McCort-Dysplasie Dysplasie, mesomele, Typ Savarirayan Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson Dysplasie, pseudodiastrophische Osteopetrose mit neuroaxonaler Dysplasie, infantile Form Osteopetrosis, intermediäre Kleinwuchs, mikrozephaler primordialer, Typ Dauber Endosteale Sklerose-zerebelläre Hypoplasie-Syndrom Dysplasie, metaphysäre, Typ Braun-Tinschert Brachydaktylie A6 Doughnut-förmige Läsionen der Schädelkalotte - Knochenfragilität Spondylo-karpo-tarsale Synostose Genochondromatose Typ 1 Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz Dysspondyloenchondromatose Genochondromatose Typ 2 Akroscyphodysplasie, metaphysäre Knochenkrankheit, seltene Cutis laxa, autosomal-rezessive, Typ 2 Léri-Weill-Dyschondrosteose Dysostose, thorakopelvine Knochendysplasie, fibröse Dysplasie, spondylodysplastische Kampomele Dysplasie und verwandte Krankheiten Dysplasie, neonatale osteosklerotische Eiken-Syndrom Kleidokraniale Dysplasie und isolierten kranialen Ossifikationsdefekt Brachyolmie Silver-Russell-Syndrom durch Punktmutation Osteopenie-Intelligenzminderung-spährliches Haar-Syndrom Tricho-dento-ossäres Syndrom Osteoarthropathie, hypertrophe primäre Caffey-Krankheit CHST3-assoziierte Skelettdysplasie Kampomelie Typ Cumming Chondrodysplasie, metaphysäre, Typ Jansen TMEM165-CDG Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom Madelung-Deformität, bilateral Dysplasie, diaphysäre gefleckte Dysplasie, spondyloepiphysäre, Typ Maroteaux Osteochondrome, multiple Larsen-ähnliches Syndrom, letale Form Upington-Krankheit Fibrodysplasia ossificans progressiva Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Weissenbacher-Zweymüller-Syndrom Goldblatt-Syndrom Chondrodysplasie, letale, Typ Moerman Chondrodysplasie-Störung der Geschlechtsentwicklung-Syndrom Yunis-Varon-Syndrom Greenberg-Dysplasie Dysplasie, oto-spondylo-megaepiphysäre Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie Foramina parietalia mit Klavikulahypoplasie Dysostose, kleidokraniale Kleinwuchs, Shox-bedingter Hypophosphatasie Mazabraud-Syndrom Dysplasie, gnatho-diaphysäre Metachondromatose Chondrodysplasie, metaphysäre, Typ Spahr Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie Tricho-rhino-phalangeales Syndrom Typ 1 Jeune-Syndrom Kurzrippen-Polydaktylie-Syndrome Robinow-Syndrom, autosomal-rezessives Kniest-Dysplasie Dysplasie, kranioektodermale Chondrodysplasia punctata, brachytelephalangealer Typ Chondrodysplasia punctata Typ Toriello Dysplasie, kranio-metaphysäre Kranio-Osteoarthropathie Tricho-rhino-phalangeales-Syndrom Typ 2 Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom Ohr-Patella-Kleinwuchs-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Bieganski Leukozytenadhäsionsdefekt Typ III Ossifikationsstörung - psychomotorische Entwicklungsverzögerung Oto-palato-digitales Syndrom Typ 1 Oto-palato-digitales Syndrom Typ 2 Marshall-Syndrom Terminale Knochendysplasie - Pigmentstörungen Brachydactylous dwarfism, Mseleni type Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism, Reinhardt-Pfeiffer type Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism type II Micromelic dwarfism, Fryns type Microcephalic primordial dwarfism, Toriello type Parastremmatic dwarfism Lenz-Majewski hyperostotic dwarfism Frank-Ter Haar syndrome Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Diastrophic dysplasia Lipodystrophy-intellectual disability-deafness syndrome Oculodentodigital dysplasia Autosomal recessive malignant osteopetrosis High bone mass osteogenesis imperfecta Saldino-Mainzer syndrome Dysplasia of head of femur, Meyer type Opsismodysplasia Orofaciodigital syndrome type 4 Progressive osseous heteroplasia Autosomal recessive cutis laxa type 2B Blount disease Bruck syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Autosomal recessive cutis laxa type 2, classic type Autosomal recessive distal osteolysis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopetrosis and related disorders Osteogenesis imperfecta type 1 Multicentric osteolysis-nodulosis-arthropathy spectrum Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-pseudoglioma syndrome Lateral meningocele syndrome Silver-Russell syndrome due to an imprinting defect of 11p15 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Pachydermoperiostosis Osteogenesis imperfecta type 3 Dysosteosclerosis Pycnodysostosis Blomstrand lethal chondrodysplasia Dysostosis, Stanescu type Kyphomelic dysplasia Thoracomelic dysplasia Dysplasia epiphysealis hemimelica Schwartz-Jampel syndrome Schimke immuno-osseous dysplasia Seckel syndrome Mesomelic dysplasia, Kantaputra type Ulna metaphyseal dysplasia syndrome Bone dysplasia, lethal Holmgren type Bone dysplasia, Azouz type Spondyloenchondrodysplasia Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Perinatal lethal hypophosphatasia Spondyloepiphyseal dysplasia, Reardon type X-linked hypophosphatemia Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepimetaphyseal dysplasia, aggrecan type Madelung deformity Spondyloepiphyseal dysplasia congenita Odontohypophosphatasia Achondrogenesis Acrodysostosis Hajdu-Cheney syndrome Pyle disease Acromicric dysplasia Angel-shaped phalango-epiphyseal dysplasia Delayed membranous cranial ossification Fibrochondrogenesis Primary bone dysplasia Atelosteogenesis type II Juvenile hyaline fibromatosis Atelosteogenesis type III Otopalatodigital syndrome spectrum disorder