SE-ATLAS

Slender bone dysplasia Primary bone dysplasia with increased bone density Primary bone dysplasia with decreased bone density Primary osteolysis Primary bone dysplasia with disorganized development of skeletal components Ollier disease Maffucci syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Hypocalcemic rickets Campomelic dysplasia Neonatal severe primary hyperparathyroidism Hypophosphatemic rickets Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 1 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Primary bone dysplasia with micromelia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Acromelic dysplasia Mesomelic and rhizo-mesomelic dysplasia Primary bone dysplasia with multiple joint dislocations Familial hypocalciuric hypercalcemia type 3 Achondroplasia Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Cole-Carpenter syndrome Nestor-Guillermo progeria syndrome Chondrodysplasia with joint dislocations, gPAPP type Metaphyseal anadysplasia Roifman syndrome Rhizomelic syndrome, Urbach type Richieri Costa-da Silva syndrome Geroderma osteodysplastica Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Autosomal dominant Robinow syndrome Acromesomelic dysplasia, Maroteaux type Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Grant syndrome Acromesomelic dysplasia, Grebe type Albers-Schönberg osteopetrosis Dyssegmental dysplasia, Rolland-Desbuquois type Spondyloepimetaphyseal dysplasia, matrilin-3 type Hallermann-Streiff syndrome 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 Spondyloepimetaphyseal dysplasia, Geneviève type Microcephalic primordial dwarfism due to ZNF335 deficiency Dacryocystitis-osteopoikilosis syndrome Stickler syndrome type 1 Stickler syndrome type 2 McCune-Albright syndrome 3M syndrome Geleophysic dysplasia Mesomelic dysplasia, Nievergelt type Metatropic dysplasia Fibular aplasia-complex brachydactyly syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Osteoglosphonic dysplasia Thanatophoric dysplasia Spondylometaphyseal dysplasia, Golden type Axial spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, A4 type Enlarged parietal foramina Talo-patello-scaphoid osteolysis Wolcott-Rallison syndrome Osteogenesis imperfecta Otopalatodigital syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Omodysplasia Autosomal recessive cutis laxa type 2A Osteocraniostenosis Carpotarsal osteochondromatosis Nasu-Hakola disease Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Multicentric carpo-tarsal osteolysis with or without nephropathy Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Osteomesopyknosis Osteopathia striata-cranial sclerosis syndrome Chondroectodermal dysplasia with night blindness Autosomal dominant osteopetrosis type 1 Osteopetrosis with renal tubular acidosis Silver-Russell syndrome due to 7p11.2p13 microduplication Hutchinson-Gilford progeria syndrome Dyschondrosteosis-nephritis syndrome Endosteal hyperostosis, Worth type Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to 11p15 microduplication Pseudoachondroplasia Juvenile Paget disease Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 OBSOLETE: Peripheral dysostosis Mixed sclerosing bone dystrophy with extra-skeletal manifestations Ghosal hematodiaphyseal dysplasia Rhizomelic dysplasia, Patterson-Lowry type Lowry-Wood syndrome Frontometaphyseal dysplasia Lethal osteosclerotic bone dysplasia Shwachman-Diamond syndrome Silver-Russell syndrome Short stature, Brussels type Stickler syndrome Spondyloperipheral dysplasia-short ulna syndrome 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 Kleinwuchs mit Brachydaktylie vom Typ Mseleni Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ I und III Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II Kleinwuchs, mikromeler, Typ Fryns Kleinwuchs, mikrozephaler primordialer, Typ Toriello Kleinwuchs, parastrematischer Kleinwuchs, hyperostotischer, Typ Lenz-Majewski Frank-ter Haar-Syndrom Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom Dysplasie, diastrophe Lipodystrophie-Intelligenzminderung-Schwerhörigkeit-Syndrom Dysplasie, okulo-dento-digitale Osteopetrose, maligne, autosomal-rezessive Form Osteogenesis imperfecta Hohe Knochenmasse Saldino-Mainzer-Syndrom Femurkopfdysplasie Typ Meyer Opsismodysplasie Oro-fazio-digitales Syndrom Typ 4 Heteroplasie, progressive ossäre Cutis laxa, autosomal-rezessive, Typ 2B Blount-Syndrom Bruck-Syndrom Osteogenesis imperfecta - Retinopahie - Krämpfe - Intelligenzminderung Cutis laxa, autosomal-rezessive, Typ 2, klassische Osteolyse-Syndrom, distales, autosomal-rezessives Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke Osteopetrose Osteogenesis imperfecta Typ 1 Multizentrische Osteolyse-Nodulose-Arthropathie-Spektrum Osteoporose-okulokutane Hypopigmentierung-Syndrom Osteoporose - Makrozephalie - Blindheit - Gelenkinstabilität Osteoporose-Pseudoglioma-Syndrom Syndrom der lateralen Meningozele Silver-Russell-Syndrom durch Imprintingdefekt von 11p15 B4GALT7-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom Pachydermoperiostose Osteogenesis imperfecta Typ 3 Dysosteosklerose Pyknodysostose Chondrodysplasie Typ Blomstrand Dysostose Typ Stanescu Dysplasie, kyphomele Dysplasie, thorakomelische Dysplasia epiphysealis hemimelica Schwartz-Jampel-Syndrom Knochendysplasie, immuno-ossäre, Typ Schimke Seckel-Syndrom Dysplasie, mesomele, Typ Kantaputra Ulna-Dysplasie, metaphysäre Knochendysplasie, letale, Typ Holmgren Skelettdysplasie Typ Azouz Spondyloenchondrodysplasie Dysplasie, spondyloepiphysäre, Typ Nishimura Hypophosphatasie, letale perinatale Dysplasie, spondyloepiphysäre, Typ Reardon Hypophosphatämie, X-chromosomale Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn Dysplasie, spondyloepiphysäre, Typ MacDermot Dysplasie, spondyloepimetaphysäre, Typ Aggrecan Madelung-Deformität Dysplasie, spondyloepiphysäre, kongenitaler Typ Odontohypophosphatasie Achondrogenesie Akrodysostose Hajdu-Cheney-Syndrom Pyle-Krankheit Dysplasie, akromikrische Dysplasie, engelförmige phalango-epiphysäre Ossifikationsverzögerung des Schädels, membranöse Fibrochondrogenesie Knochendysplasie, primäre Atelosteogenesis Typ II Fibromatose, hyaline juvenile Atelosteogenesis Typ III Syndrome des otopalatodigitalen Spektrums