se-atlas

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
12q14 microdeletion syndrome 3M syndrome Achondrogenesis Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondroplasia Acrocapitofemoral dysplasia Acrodysostosis Acromelic dysplasia Acromesomelic dysplasia Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Maroteaux type Acromicric dysplasia Acroosteolysis dominant type Adult hypophosphatasia Albers-Schönberg osteopetrosis Anauxetic dysplasia Angel-shaped phalango-epiphyseal dysplasia Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Astley-Kendall dysplasia Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Auriculoosteodysplasia Autosomal dominant Kenny-Caffey syndrome Autosomal dominant Larsen syndrome Autosomal dominant Robinow syndrome Autosomal dominant brachyolmia Autosomal dominant chondrodysplasia punctata Autosomal dominant hypophosphatemic rickets Autosomal dominant omodysplasia Autosomal dominant osteopetrosis type 1 Autosomal recessive Kenny-Caffey syndrome Autosomal recessive Robinow syndrome Autosomal recessive Stickler syndrome Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive distal osteolysis syndrome Autosomal recessive hypophosphatemic rickets Autosomal recessive malignant osteopetrosis Autosomal recessive omodysplasia Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Axial spondylometaphyseal dysplasia Blomstrand lethal chondrodysplasia Blount disease Bone dysplasia, lethal Holmgren type Boomerang dysplasia Brachydactylous dwarfism, Mseleni type Brachydactyly type A6 Brachydactyly-short stature-retinitis pigmentosa syndrome Brachyolmia Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Bruck syndrome Buschke-Ollendorff syndrome CHILD syndrome CHST3-related skeletal dysplasia Caffey disease Calvarial doughnut lesions-bone fragility syndrome Campomelia, Cumming type Campomelic dysplasia Campomelic dysplasia and related disorders Camurati-Engelmann disease Carpotarsal osteochondromatosis Cartilage-hair hypoplasia Cheirospondyloenchondromatosis Cherubism Childhood-onset hypophosphatasia Chondrodysplasia punctata Chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, tibial-metacarpal type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia-disorder of sex development syndrome Chondroectodermal dysplasia with night blindness Ciliopathies with major skeletal involvement Cleidocranial dysplasia Cleidocranial dysplasia and isolated cranial ossification defect Cleidorhizomelic syndrome Cole-Carpenter syndrome Congenital bowing of long bones Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Coxoauricular syndrome Cranio-osteoarthropathy Craniodiaphyseal dysplasia Cranioectodermal dysplasia Craniofacial conodysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniosynostosis-anal anomalies-porokeratosis syndrome Czech dysplasia, metatarsal type Dacryocystitis-osteopoikilosis syndrome Dappled diaphyseal dysplasia Delayed membranous cranial ossification Desbuquois syndrome Desmosterolosis Diaphanospondylodysostosis Diaphyseal medullary stenosis-bone malignancy syndrome Diastrophic dwarfism Disorders of vitamin D metabolism Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dyggve-Melchior-Clausen disease Dyschondrosteosis-nephritis syndrome Dysosteosclerosis Dysostosis, Stanescu type Dysplasia epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker type Dysspondyloenchondromatosis Ear-patella-short stature syndrome Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos/osteogenesis imperfecta syndrome Eiken syndrome Ellis Van Creveld syndrome Enchondromatosis Endosteal hyperostosis, Worth type Endosteal sclerosis-cerebellar hypoplasia syndrome Enlarged parietal foramina Exostoses-anetodermia-brachydactyly type E syndrome FGFR2-related bent bone dysplasia Familial expansile osteolysis Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone Fibular aplasia-complex brachydactyly syndrome Frank-Ter Haar syndrome Frontometaphyseal dysplasia Geleophysic dysplasia Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Gnathodiaphyseal dysplasia Grant syndrome Greenberg dysplasia Hallermann-Streiff syndrome Hereditary hypophosphatemic rickets with hypercalciuria High bone mass osteogenesis imperfecta Hip dysplasia, Beukes type Hutchinson-Gilford progeria syndrome Hyperostosis corticalis generalisata Hypocalcemic rickets Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypochondrogenesis Hypochondroplasia Hypophosphatasia Hypophosphatemic rickets IMAGe syndrome Idiopathic juvenile osteoporosis Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Infantile hypophosphatasia Infantile osteopetrosis with neuroaxonal dysplasia Infantile systemic hyalinosis Intellectual disability-balding-patella luxation-acromicria syndrome Intermediate osteopetrosis Isolated osteopoikilosis Jeune syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Juvenile Paget disease Juvenile hyaline fibromatosis Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kenny-Caffey syndrome Kniest dysplasia Kyphomelic dysplasia Langer mesomelic dysplasia Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Lateral meningocele syndrome Lenz-Majewski hyperostotic dwarfism Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal chondrodysplasia Lethal osteosclerotic bone dysplasia Lethal recessive chondrodysplasia Leukocyte adhesion deficiency type III Lipodystrophy-intellectual disability-deafness syndrome Lowry-Wood syndrome Léri-Weill dyschondrosteosis Madelung deformity Madelung deformity, bilateral Madelung deformity, unilateral Maffucci syndrome Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Marshall syndrome Mazabraud syndrome McCune-Albright syndrome Melnick-Needles syndrome Melorheostosis Melorheostosis with osteopoikilosis Mesomelia-synostoses syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Savarirayan type Metachondromatosis Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metatropic dysplasia Microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic primordial dwarfism Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Toriello type Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mixed sclerosing bone dystrophy with extra-skeletal manifestations Monostotic fibrous dysplasia Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric osteolysis-nodulosis-arthropathy spectrum Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple metaphyseal dysplasia Multiple non-ossifying fibromatosis Multiple osteochondromas Nasu-Hakola disease Neonatal osteosclerotic dysplasia Neonatal severe primary hyperparathyroidism Nestor-Guillermo progeria syndrome Nodulosis-arthropathy-osteolysis syndrome Non-rhizomelic chondrodysplasia punctata Oculodentodigital dysplasia Odontochondrodysplasia Odontohypophosphatasia Omodysplasia Opsismodysplasia Orofaciodigital syndrome type 4 Ossification anomalies-psychomotor developmental delay syndrome Osteocraniostenosis Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglosphonic dysplasia Osteomesopyknosis Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disability-sparse hair syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia Pachydermoperiostosis Pacman dysplasia Pancreatic insufficiency-anemia-hyperostosis syndrome Parastremmatic dwarfism Parietal foramina with clavicular hypoplasia Perinatal lethal hypophosphatasia Peripheral dysostosis Phalangeal microgeodic syndrome Platyspondylic dysplasia, Torrance type Polyostotic fibrous dysplasia Prenatal benign hypophosphatasia Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal components Primary bone dysplasia with increased bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary hypertrophic osteoarthropathy Primary osteolysis Progressive osseous heteroplasia Progressive pseudorheumatoid arthropathy of childhood Pseudoachondroplasia Pseudodiastrophic dysplasia Pycnodysostosis Pyknoachondrogenesis Pyle disease Ramon syndrome Rare bone disease Reunion Island Larsen syndrome Rhizomelic chondrodysplasia punctata Rhizomelic dysplasia, Patterson-Lowry type Rhizomelic syndrome, Urbach type Richieri Costa-da Silva syndrome Robinow syndrome Roifman syndrome SHOX-related short stature SPONASTRIME dysplasia Saldino-Mainzer syndrome Schimke immuno-osseous dysplasia Schneckenbecken dysplasia Schwartz-Jampel syndrome Sclerosteosis Seckel syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe lateral tibial bowing with short stature Short rib-polydactyly syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Shwachman-Diamond syndrome Silver-Russell syndrome Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Singleton-Merten dysplasia Slender bone dysplasia Smith-McCort dysplasia Spastic paraplegia-Paget disease of bone syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Spondylo-ocular syndrome Spondylocamptodactyly syndrome Spondylocarpotarsal synostosis Spondylodysplastic dysplasia Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Isidor type Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia, Reardon type Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondyloperipheral dysplasia-short ulna syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stüve-Wiedemann syndrome TMEM165-CDG Talo-patello-scaphoid osteolysis Terminal osseous dysplasia-pigmentary defects syndrome Thanatophoric dysplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thin ribs-tubular bones-dysmorphism syndrome Thoracolaryngopelvic dysplasia Thoracomelic dysplasia Torg-Winchester syndrome Tricho-dento-osseous syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Ulna metaphyseal dysplasia syndrome Upington disease Upper limb mesomelic dysplasia Weismann-Netter syndrome Weissenbacher- Zweymuller syndrome Wolcott-Rallison syndrome Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Wrinkly skin syndrome X-linked calvarial hyperostosis X-linked dominant chondrodysplasia punctata X-linked hypophosphatemia X-linked osteoporosis with fractures X-linked skeletal dysplasia-intellectual disability syndrome X-linked spondyloepimetaphyseal dysplasia Yunis-Varon syndrome