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 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Thanatophoric dysplasia type 1 Dyssegmental dysplasia, Silverman-Handmaker type Autosomal dominant hypophosphatemic rickets Brachyolmia-amelogenesis imperfecta syndrome Prenatal benign hypophosphatasia Melorheostosis with osteopoikilosis Infantile hypophosphatasia 12q14 microdeletion syndrome Adult hypophosphatasia Epiphyseal stippling-osteoclastic hyperplasia syndrome Exostoses-anetodermia-brachydactyly type E syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Pyknoachondrogenesis Acromesomelic dysplasia, Hunter-Thompson type Ramon syndrome Acrocapitofemoral dysplasia Intellectual disability-balding-patella luxation-acromicria syndrome Hypocalcemic vitamin D-resistant rickets Anauxetic dysplasia X-linked spondyloepimetaphyseal dysplasia Atelosteogenesis type I X-linked osteoporosis with fractures Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Metaphyseal chondrodysplasia, Schmid type Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Cartilage-hair hypoplasia Non-rhizomelic chondrodysplasia punctata Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Smith-McCort dysplasia Mesomelic dysplasia, Savarirayan type Microcephalic osteodysplastic dysplasia, Saul-Wilson type Pseudodiastrophic dysplasia Infantile osteopetrosis with neuroaxonal dysplasia Intermediate osteopetrosis Microcephalic primordial dwarfism, Dauber type Endosteal sclerosis-cerebellar hypoplasia syndrome Metaphyseal dysplasia, Braun-Tinschert type Brachydactyly type A6 Calvarial doughnut lesions-bone fragility syndrome Spondylocarpotarsal synostosis Genochondromatosis type 1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Dysspondyloenchondromatosis Genochondromatosis type 2 Metaphyseal acroscyphodysplasia Rare bone disease Autosomal recessive cutis laxa type 2 Léri-Weill dyschondrosteosis Thoracolaryngopelvic dysplasia Fibrous dysplasia of bone Spondylodysplastic dysplasia Campomelic dysplasia and related disorders Neonatal osteosclerotic dysplasia Eiken syndrome Cleidocranial dysplasia and isolated cranial ossification defect Brachyolmia Silver-Russell syndrome due to a point mutation Osteopenia-intellectual disability-sparse hair syndrome Tricho-dento-osseous syndrome Primary hypertrophic osteoarthropathy Caffey disease CHST3-related skeletal dysplasia Campomelia, Cumming type Metaphyseal chondrodysplasia, Jansen type TMEM165-CDG Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Madelung deformity, bilateral Dappled diaphyseal dysplasia Spondyloepiphyseal dysplasia, Maroteaux type Multiple osteochondromas Lethal Larsen-like syndrome Upington disease Fibrodysplasia ossificans progressiva Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Weissenbacher-Zweymuller syndrome Odontochondrodysplasia Lethal chondrodysplasia, Moerman type Chondrodysplasia-difference of sex development syndrome Yunis-Varon syndrome Greenberg dysplasia Otospondylomegaepiphyseal dysplasia Joubert syndrome with Jeune asphyxiating thoracic dystrophy Parietal foramina with clavicular hypoplasia Cleidocranial dysplasia SHOX-related short stature Hypophosphatasia Mazabraud syndrome Gnathodiaphyseal dysplasia Metachondromatosis Metaphyseal chondrodysplasia, Spahr type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Trichorhinophalangeal syndrome type 1 Jeune syndrome Short rib-polydactyly syndrome Autosomal recessive Robinow syndrome Kniest dysplasia Cranioectodermal dysplasia Brachytelephalangic chondrodysplasia punctata Chondrodysplasia punctata, Toriello type Craniometaphyseal dysplasia Cranio-osteoarthropathy Trichorhinophalangeal syndrome type 2 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Ear-patella-short stature syndrome Spondyloepimetaphyseal dysplasia, Bieganski type Leukocyte adhesion deficiency type III Ossification anomalies-psychomotor developmental delay syndrome Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Marshall syndrome Terminal osseous dysplasia-pigmentary defects syndrome 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