SE-ATLAS

Dysplasie, spondyloepiphysäre, Typ Maroteaux Kongenitale Verkrümmung der Röhrenknochen-Kleinwuchs-Dolichomakrozephalie-okulärer Hypertelorismus-Syndrom Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom Fibrochondrogenesie Robinow-Syndrom Knochendysplasie, fibröse Terminale Knochendysplasie - Pigmentstörungen Dysplasie, spondyloepiphysäre, Typ Nishimura Achondrogenesie Aurikulo-Osteo-Dysplasie Kleinwuchs, mikrozephaler primordialer, Typ Dauber Dysplasie, spondyloepimetaphysäre, Typ A4 Oto-spondylo-megaepiphysäre Dysplasie, autosomal-dominante Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff Dysplasie, epiphysäre multiple Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan Spondyloepiphysäre und spondyloepimetaphysäre Dysplasie Cutis laxa, autosomal-rezessive, Typ 2A Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain Dysplasie, spondylometaphysäre Schwartz-Jampel-Syndrom Fibromatose, hyaline juvenile Hyperkalzämie, familiäre hypokalziurische, Typ 2 Dysplasie, okulo-dento-digitale Fibromatose, multiple nicht ossifizierende Hypophosphatasie mit Beginn im Kindesalter Thanatophore Dysplasie Typ 2 Osteogenesis imperfecta Monostotische fibröse Dysplasie Chondrodysplasia punctata, X-chromosomal-dominante Osteopetrose, maligne, autosomal-rezessive Form Hyperkalzämie, familiäre hypokalziurische, Typ 3 Knochendysplasie, fibröse polyostotische Milde spondyloepiphysäre Dysplasie durch COL2A1-Genmutation mit früh beginnender Osteoarthritis Oto-palato-digitales Syndrom Ossifikationsstörung - psychomotorische Entwicklungsverzögerung Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom Seckel-Syndrom Dysplasie, spondyloepiphysäre, Typ Kimberley Hypophosphatasie des Erwachsenen Dysplasie, spondyloepiphysäre verzögerte Spondyloepimetaphyseal dysplasia, PAPSS2 type Dyschondrosteosis-nephritis syndrome Osteopetrosis-hypogammaglobulinemia syndrome Shwachman-Diamond syndrome Spondylometaphyseal dysplasia, Czarny-Ratajczak type Rare bone disease Spondyloepiphyseal dysplasia tarda, Kohn type Infantile systemic hyalinosis Reunion Island Larsen-like syndrome Silver-Russell syndrome Autosomal recessive cutis laxa type 2B Spondyloepiphyseal dysplasia, Reardon type Acrodysostosis Familial hypocalciuric hypercalcemia Isolated osteopoikilosis Ciliopathies with major skeletal involvement Mandibuloacral dysplasia with type A lipodystrophy Upington disease Autosomal recessive cutis laxa type 2, classic type Primary hypertrophic osteoarthropathy Odontohypophosphatasia SHOX-related short stature Hajdu-Cheney syndrome Eiken syndrome Mandibuloacral dysplasia with type B lipodystrophy Spondyloepiphyseal dysplasia, MacDermot type Spondylocarpotarsal synostosis Joubert syndrome with Jeune asphyxiating thoracic dystrophy Mandibuloacral dysplasia Enlarged parietal foramina CHILD syndrome Pyknoachondrogenesis Multiple epiphyseal dysplasia and pseudoachondroplasia Short stature, Brussels type Multiple metaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Bieganski type Campomelic dysplasia Achondrogenesis type 2 Hypocalcemic vitamin D-resistant rickets Cole-Carpenter syndrome Pyle disease Short rib-polydactyly syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Osteopenia-intellectual disability-sparse hair syndrome Achondrogenesis type 1B Thin ribs-tubular bones-dysmorphism syndrome Hyperostosis corticalis generalisata Autosomal recessive Robinow syndrome Leukocyte adhesion deficiency type III Silver-Russell syndrome due to a point mutation Spondylodysplastic dysplasia Coxoauricular syndrome TMEM165-CDG Neonatal severe primary hyperparathyroidism Acromesomelic dysplasia Microcephalic primordial dwarfism Achondrogenesis type 1A Dysosteosclerosis Acromelic dysplasia Stickler syndrome Campomelic dysplasia and related disorders Brachyolmia type 1, Toledo type Mesomelic and rhizo-mesomelic dysplasia Spondyloepimetaphyseal dysplasia, aggrecan type Brachyolmia, Maroteaux type Hypocalcemic vitamin D-dependent rickets Primary bone dysplasia with multiple joint dislocations Metaphyseal acroscyphodysplasia Craniodiaphyseal dysplasia Odontochondrodysplasia Slender bone dysplasia Spondyloepimetaphyseal dysplasia, Geneviève type Acromesomelic dysplasia, Hunter-Thompson type Autosomal dominant brachyolmia Acromicric dysplasia Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Marshall syndrome Kenny-Caffey syndrome Cranioectodermal dysplasia Dyssegmental dysplasia, Rolland-Desbuquois type Sclerosteosis Chondrodysplasia punctata Ellis Van Creveld syndrome McCune-Albright syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly Primary bone dysplasia with decreased bone density Spondyloepimetaphyseal dysplasia, matrilin-3 type Multiple epiphyseal dysplasia type 1 Primary bone dysplasia with increased bone density X-linked calvarial hyperostosis Opsismodysplasia Ramon syndrome Angel-shaped phalango-epiphyseal dysplasia Achondroplasia Hypochondroplasia Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Noonan syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type FGFR2-related bent bone dysplasia Atelosteogenesis type II Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Primary bone dysplasia with disorganized development of skeletal components Craniometaphyseal dysplasia OBSOLETE: Peripheral dysostosis Autosomal recessive hypophosphatemic rickets Spondylometaphyseal dysplasia, Schmidt type Ollier disease Acrocapitofemoral dysplasia Cleidocranial dysplasia and isolated cranial ossification defect Autosomal recessive Stickler syndrome Cranio-osteoarthropathy 3M syndrome Trichorhinophalangeal syndrome Dysostosis, Stanescu type Nestor-Guillermo progeria syndrome Chondrodysplasia with joint dislocations, gPAPP type Capillary malformation-arteriovenous malformation Omodysplasia Atelosteogenesis type III Schneckenbecken dysplasia Short rib-polydactyly syndrome, Beemer-Langer type Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Multiple epiphyseal dysplasia, Beighton type Orofaciodigital syndrome type 4 Short rib-polydactyly syndrome, Majewski type Hypochondrogenesis Brachyolmia type 1, Hobaek type Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Spondylometaphyseal dysplasia, Kozlowski type Neonatal osteosclerotic dysplasia Primary osteolysis Spondylometaphyseal dysplasia, 'corner fracture' type Primary bone dysplasia with defective bone mineralization Spondylometaphyseal dysplasia, Sedaghatian type SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Hypophosphatasia X-linked osteoporosis with fractures Brachydactylous dwarfism, Mseleni type Hypophosphatemic rickets Kyphomelic dysplasia Lethal Kniest-like dysplasia Ghosal hematodiaphyseal dysplasia Melnick-Needles syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Thoracomelic dysplasia Melorheostosis Wolcott-Rallison syndrome Multiple epiphyseal dysplasia, Lowry type Mixed sclerosing bone dystrophy with extra-skeletal manifestations Autosomal recessive Kenny-Caffey syndrome Geleophysic dysplasia Larsen-like syndrome, B3GAT3 type Geroderma osteodysplastica Delayed membranous cranial ossification Progressive osseous heteroplasia Autosomal dominant Kenny-Caffey syndrome Brachyolmia-amelogenesis imperfecta syndrome Osteocraniostenosis Autosomal dominant omodysplasia Boomerang dysplasia Lethal chondrodysplasia Osteosclerosis-ichthyosis-premature ovarian failure syndrome Metaphyseal chondrodysplasia, Schmid type Dysplasie épiphysaire multiple type Al-Gazali Spectre ostéolyse multicentrique-nodulose-arthropathie Chondrodysplasie métaphysaire autosomique récessive Dysplasie spondylo-métaphysaire autosomique récessive type Mégarbané Omodysplasie autosomique récessive Ostéochondromatose carpo-tarsienne Syndrome de Roifman Chondrodysplasie ponctuée non rhizomélique Syndrome de nanisme mésomélique-fente palatine-camptodactylie Dysplasie acromésomélique type Maroteaux Syndrome de Weissenbacher-Zweymuller Maladie de Blount Syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie Chondrodysplasie ponctuée rhizomélique Dysplasie mésomélique type Langer Syndrome de mésomélie-synostoses Dysplasie mésomélique type Nievergelt Dysplasie mésomélique isolée de l'avant bras Maladie de Nasu-Hakola Syndrome épiphyses ponctuées-hyperplasie ostéoclastique Dysplasie épiphysaire multiple avec dysplasie fémorale sévère Nanisme mésomélique type Reinhardt-Pfeiffer Syndrome spondylo-camptodactylie Dysplasie de la tête du fémur type Meyer Syndrome de Bruck Dysplasie métatropique Dysplasie thoraco-laryngo-pelvienne Métachondromatose Nanisme microcéphalique ostéodysplasique primordial types I et III Syndrome d'ostéogenèse imparfaite-microcéphalie-cataracte Dysplasie chondroectodermique avec cécité nocturne Syndrome de brachydactylie-petite taille-rétinite pigmentaire Syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle Nanisme microcéphalique ostéodysplasique primordial type II Dysplasie épiphysaire multiple avec miniépiphyse Chondrodysplasie métaphysaire type Spahr Ostéolyse carpo-tarsienne multicentrique avec ou sans néphropathie Syndrome de dysostose métaphysaire-déficience intellectuelle-surdité Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques Chérubisme Syndrome d'aplasie du péroné-brachydactylie Maladie des exostoses multiples Syndrome d'ostéolyse distale autosomique récessif Dysplasie épiphysaire hémimélique Syndrome de dysplasie métaphysaire-dysmorphie-brachydactylie Ostéomésopycnose Nanisme micromélique type Fryns Syndrome de Torg-Winchester Syndrome de Lowry-Wood Syndrome de Grant Syndrome de dysplasie osseuse Larsen-like-nanisme Ostéogenèse imparfaite avec augmentation de la masse osseuse Syndrome d'ostéopathie striée-hyperpigmentation-mèche blanche Chondrodysplasie métaphysaire type Kaitila Nanisme microcéphalique primordial type Toriello Dysplasie acromésomélique type Grebe Syndrome létal de Larsen-like Syndrome d'ostéopathie striée-sclérose crânienne Syndrome d'exostoses-anétodermie-brachydactylie type E Ostéopétrose d'Albers-Schönberg Dysplasie fronto-métaphysaire Hypophosphatémie liée à l'X Ostéopétrose et maladies associées Dysplasie ostéoglophonique Nanisme parastremmatique Dysplasie anauxétique Desmostérolose Ostéopétrose autosomique dominante type 1 Dysplasie spondylo-épimétaphysaire type Strudwick Chondrodysplasie létale type Moerman Syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale Rachitisme hypophosphatémique autosomique dominant Dysplasie immuno-osseuse de Schimke Dysplasie platyspondylique type Torrance Chondrodysplasie létale type Seller Ostéopétrose avec acidose tubulaire rénale Syndrome d'achondroplasie sévère-retard de développement-acanthosis nigricans Progéria Syndrome de chondrodysplasie-différence du développement sexuel Syndrome d'ostéoporose-hypopigmentation oculocutanée Dysplasie spondylo-épimétaphysaire liée à l'X Chondrodysplasie létale autosomique récessive Dysplasie osseuse ostéosclérotique létale Conodysplasie craniofaciale Syndrome microgéodique des phalanges Syndrome d'ostéoporose-macrocéphalie-cécité-hyperlaxité articulaire Dysplasie spondylo-épimétaphysaire type Shohat Syndrome trichorhinophalangien type 1 Cutis laxa autosomique récessive type 2 Foramen pariétal avec hypoplasie claviculaire Dysplasie spondyloépiphysaire avec raccourcissement des métatarsiens Syndrome de dysplasie spondylo-métaphysaire-dystrophie des cônes et des bâtonnets Chondrodysplasie métaphysaire type Jansen Syndrome d'ostéoporose-pseudogliome Dysplasie spondylo-épimétaphysaire type Irapa Dysplasie mésomélique type Savarirayan Syndrome de Desbuquois Syndrome de méningocèle latérale Syndrome de dacryocystite-ostéopoecilie Dysplasie squelettique létale type Greenberg Syndrome de Hallermann-Streiff Hyperostose endostéale type Worth Syndrome de Yunis-Varon Dysplasie mésomélique type Kantaputra Dysplasie oto-spondylo-mégaépiphysaire Dysplasie ostéodysplasique microcéphalique type Saul-Wilson Dysplasie thanatophore Spondyloepimetaphyseal dysplasia, Missouri type IMAGe syndrome Fibrodysplasia ossificans progressiva Ulna metaphyseal dysplasia syndrome Jeune syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Brachyolmia Astley-Kendall dysplasia Madelung deformity, unilateral Intermediate osteopetrosis SPONASTRIME dysplasia Lenz-Majewski hyperostotic dwarfism Spondylo-megaepiphyseal-metaphyseal dysplasia Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Pseudodiastrophic dysplasia Madelung deformity, bilateral Pseudoachondroplasia Progressive pseudorheumatoid arthropathy of childhood Hip dysplasia, Beukes type Spondyloepimetaphyseal dysplasia with joint laxity Pachydermoperiostosis Bone dysplasia, lethal Holmgren type Stüve-Wiedemann syndrome Infantile osteopetrosis with neuroaxonal dysplasia Perinatal lethal hypophosphatasia Blomstrand lethal chondrodysplasia Weismann-Netter syndrome Bone dysplasia, Azouz type Talo-patello-scaphoid osteolysis X-linked skeletal dysplasia-intellectual disability syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Juvenile Paget disease Lipodystrophy-intellectual disability-deafness syndrome Saldino-Mainzer syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Kniest dysplasia Spondyloepimetaphyseal dysplasia, Handigodu type Craniometadiaphyseal dysplasia, wormian bone type Diaphanospondylodysostosis Buschke-Ollendorff syndrome Dappled diaphyseal dysplasia Frank-Ter Haar syndrome Tricho-dento-osseous syndrome Endosteal sclerosis-cerebellar hypoplasia syndrome Cheirospondyloenchondromatosis Pycnodysostosis Metaphyseal dysplasia, Braun-Tinschert type Familial hypocalciuric hypercalcemia type 1 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Spondyloenchondrodysplasia Diastrophic dysplasia Caffey disease Spondyloperipheral dysplasia-short ulna syndrome Calvarial doughnut lesions-bone fragility syndrome Singleton-Merten dysplasia Spondylo-ocular syndrome Metaphyseal anadysplasia Spastic paraplegia-Paget disease of bone syndrome Hypocalcemic rickets Primary bone dysplasia Ehlers-Danlos/osteogenesis imperfecta syndrome Idiopathic juvenile osteoporosis Otopalatodigital syndrome type 2 Silver-Russell syndrome due to 7p11.2p13 microduplication Thanatophoric dysplasia type 1 Nodulosis-arthropathy-osteolysis syndrome Otopalatodigital syndrome type 1 Familial expansile osteolysis Cleidocranial dysplasia Prenatal benign hypophosphatasia Stickler syndrome type 2 Dysspondyloenchondromatosis 12q14 microdeletion syndrome Cleidorhizomelic syndrome Brachydactyly type A6 Mazabraud syndrome Disorders of vitamin D metabolism Genochondromatosis type 1 Stickler syndrome type 1 Campomelia, Cumming type Madelung deformity Craniosynostosis-anal anomalies-porokeratosis syndrome Dyssegmental dysplasia, Silverman-Handmaker type Silver-Russell syndrome due to an imprinting defect of 11p15 Trichorhinophalangeal syndrome type 2 Primary bone dysplasia with micromelia Spondyloepiphyseal dysplasia congenita Larsen syndrome CHST3-related skeletal dysplasia Smith-McCort dysplasia Hereditary hypophosphatemic rickets with hypercalciuria Gnathodiaphyseal dysplasia Silver-Russell syndrome due to 11p15 microduplication Rhizomelic syndrome, Urbach type Atelosteogenesis type I Ear-patella-short stature syndrome Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Chondrodysplasia punctata, Sheffield type Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Camurati-Engelmann disease Richieri Costa-da Silva syndrome Otopalatodigital syndrome spectrum disorder Alazami syndrome Chondrodysplasia punctata, tibial-metacarpal type Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Infantile hypophosphatasia Dyggve-Melchior-Clausen disease Brachytelephalangic chondrodysplasia punctata Maffucci syndrome Spondylometaphyseal dysplasia, Golden type Axial spondylometaphyseal dysplasia Rhizomelic dysplasia, Patterson-Lowry type Léri-Weill dyschondrosteosis Chondrodysplasia punctata, Toriello type Melorheostosis with osteopoikilosis Wrinkly skin syndrome Autosomal dominant Robinow syndrome Genochondromatosis type 2 Noonan syndrome and Noonan-related syndrome