- A -
Acro-Osteolysis [MESH:D030981] (548)
Acrocapitofemoral Dysplasia [MESH:C564334] (39)
Acromesomelic dysplasia, Maroteaux type [MESH:C535661] (29)
Acromicric dysplasia [MESH:C535662] (520)
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations [MESH:C563429] (1)
Angel shaped phalangoepiphyseal dysplasia [MESH:C536361] (1)
- B -
Baby Rattle Pelvis Dysplasia [MESH:C565282] (1)
Basal Cell Nevus Syndrome [MESH:D001478] (67)
Battaglia Neri syndrome [MESH:C537662] (1)
Bazopoulou Kyrkanidou syndrome [MESH:C537664] (1)
Bellini Chiumello Rimoldi syndrome [MESH:C535652] (1)
Blount disease [MESH:C536237] (1)
Bone Dysplasia, Lethal, Holmgren Type [MESH:C565896] (1)
Brachioskeletogenital syndrome [MESH:C537084] (1)
Brachymesomelia renal syndrome [MESH:C537096] (1)
Brittle Bone Disorder [MESH:C565842] (1)
- C -
CATSHL syndrome [MESH:C537975] (66)
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MESH:C537974] (1)
Cervical Vertebral Dysplasia [MESH:C566140] (1)
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta [MESH:C565734] (1)
Craniolenticulosutural Dysplasia [MESH:C564332] (27)
- D -
Deafness conductive ptosis skeletal anomalies [MESH:C535993] (1)
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull [MESH:C563380] (1)
Diaphyseal medullary stenosis with malignant fibrous histiocytoma [MESH:C536169] (1)
Doughnut Lesions of Skull, Familial [MESH:C565089] (1)
Dwarfism [MESH:D004392] (778)
Dysostoses [MESH:D004413] (1019)
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas [MESH:C565076] (1)
Dysplasia epiphysealis hemimelica [MESH:C537997] (1)
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- F -
Fountain syndrome [MESH:C537270] (1)
Fryns Hofkens Fabry syndrome [MESH:C538069] (1)
Funnel Chest [MESH:D005660] (5)
- G -
Gigantism [MESH:D005877] (46)
Gracile bone dysplasia [MESH:C537291] (1)
Gurrieri Sammito Bellussi syndrome [MESH:C537625] (1)
- H -
Hall Riggs mental retardation syndrome [MESH:C535623] (1)
- I -
Ischiopatellar dysplasia [MESH:C535540] (7)
- K -
KBG syndrome [MESH:C537015] (1)
Kantaputra Gorlin syndrome [MESH:C535547] (1)
Kozlowski Rafinski Klicharska syndrome [MESH:C537509] (1)
Kozlowski Warren Fisher syndrome [MESH:C537614] (1)
Kyphomelic dysplasia [MESH:C538128] (1)
- L -
Larsen syndrome, recessive type [MESH:C537874] (1)
Leg Length Inequality [MESH:D007870] (1)
Lenz Majewski hyperostotic dwarfism [MESH:C537115] (1)
Lissencephaly Type III and Bone Dysplasia [MESH:C563383] (1)
- M -
Macroepiphyseal dysplasia, McAlister Coe type [MESH:C537721] (1)
Marfan Syndrome [MESH:D008382] (646)
Marshall-Smith syndrome [MESH:C536026] (1)
Membranous Cranial Ossification, Delayed [MESH:C563592] (1)
Mesomelic Dysplasia, Camera Type [MESH:C567503] (1)
Mesomelic Limb Shortening and Bowing [MESH:C565404] (1)
Mononen Karnes Senac syndrome [MESH:C535914] (1)
- O -
Osteochondrodysplasias [MESH:D010009] (2440)
Osteofibrous Dysplasia [MESH:C563276] (1)
Osteolysis, Essential [MESH:D010015] (2)
Osteosclerosis with ichthyosis and premature ovarian failure [MESH:C536064] (1)
- P -
Patterson pseudoleprechaunism syndrome [MESH:C536310] (1)
Platybasia [MESH:D010985] (2)
Pointer syndrome [MESH:C536323] (1)
Prenatal Bowing [MESH:C564873] (1)
Proteus Syndrome [MESH:D016715] (152)
- R -
Radius absent anogenital anomalies [MESH:C535281] (1)
Rhizomelic dysplasia Patterson Lowry type [MESH:C537609] (1)
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa [MESH:C537610] (1)
Rhizomelic syndrome [MESH:C537611] (1)
Roifman-Chitayat Syndrome [MESH:C567641] (1)
- S -
Santos Syndrome [MESH:C567819] (1)
Schwartz-Lelek syndrome [MESH:C537519] (1)
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities [MESH:C566544] (1)
Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal [MESH:C566514] (1)
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification [MESH:C566687] (1)
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa [MESH:C563806] (1)
Spondyloepimetaphyseal Dysplasia, Aggrecan Type [MESH:C567558] (35)
Spranger Schinzel Myers syndrome [MESH:C535801] (1)
Stoll Levy Francfort syndrome [MESH:C537498] (1)
- T -
Trichoodontoonychial Dysplasia [MESH:C564760] (1)
- U -
Ulna hypoplasia with mental retardation [MESH:C536934] (1)
- V -
Vertebral body fusion overgrowth [MESH:C536543] (1)
- W -
Weill-Marchesani Syndrome [MESH:D056846] (65)
Weismann Netter syndrome [MESH:C537082] (1)
Wiedemann Oldigs Oppermann syndrome [MESH:C536705] (1)
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