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acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
asphyxiating thoracic dystrophy +
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Congenital Micromelic Dysplasia with Dislocation of Radius +
Czech Dysplasia, Metatarsal Type
diaphyseal medullary stenosis with malignant fibrous histiocytoma
disseminated eosinophilic collagen disease
Dyschondrosteosis and Nephritis
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
epidermolysis bullosa dystrophica +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Familial Cutaneous Collagenoma
Familial Osteodysplasia, Anderson Type
Familial Reactive Perforating Collagenosis
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
Ghosal hematodiaphyseal syndrome
Hyperostosis Frontalis Interna
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Jequier Kozlowski Skeletal Dysplasia
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Camera Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
mixed connective tissue disease
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta + An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
progressive pseudorheumatoid arthropathy of childhood
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stuve-Wiedemann Syndrome +
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
Ulna Metaphyseal Dysplasia Syndrome
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
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