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Results: 1 to 20 of 86

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ConditionsSynonyms
Marfan syndrome
  • FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections
  • MARFAN SYNDROME, TYPE I
  • Marfan syndrome type 1
  • Marfan syndrome, classic
  • Marfan's syndrome
Thanatophoric dysplasia type 1
  • LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
  • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE
  • Thanatophoric Dysplasia Type I
Van der Woude syndrome 1
  • Cleft lip and/or palate with mucous cysts of lower lip
Radial aplasia-thrombocytopenia syndrome
  • Absent radii and thrombocytopenia
  • TAR syndrome
  • Thrombocytopenia Absent Radius Syndrome
  • Thrombocytopenia absent radii
Ellis-van Creveld syndrome
  • Chondroectodermal dysplasia
  • EVC-Related Ellis-van Creveld Syndrome
  • EVC2-Related Ellis-van Creveld Syndrome
  • Mesoectodermal dysplasia
Chondrodysplasia punctata 2 X-linked dominant
  • CONRADI-HUNERMANN-HAPPLE SYNDROME
  • Chondrodysplasia punctata, X-linked dominant
  • Conrad Hunermann Happle syndrome
  • Happle syndrome
  • Hunermann-Conradi Syndrome
Infantile cortical hyperostosis
  • Caffey Disease
  • Hyperostosis, Cortical, Congenital
  • P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE
Spondylocostal dysostosis 1, autosomal recessive
  • DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive
Thanatophoric dysplasia, type 2
  • Cloverleaf skull with thanatophoric dwarfism
  • THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL
  • Thanatophoric Dysplasia Type II
  • Thanatophoric dysplasia with Kleeblattschaedel
Primary myelofibrosis
  • Myelofibrosis, somatic
  • Suspected idiopathic myelofibrosis
Platyspondylic dysplasia, Torrance type
  • Lethal short-limbed platyspondylic dwarfism Torrance type
  • Platyspondylic lethal skeletal dysplasia Torrance type
  • Thanatophoric dysplasia torrance variant
Short-rib thoracic dysplasia 6 with or without polydactyly
  • Majewski Syndrome
  • POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II
  • Polydactyly with neonatal chondrodystrophy type 2
  • SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
  • SHORT-RIB THORACIC DYSPLASIA 6 WITH POLYDACTYLY
  • SHORT-RIB THORACIC DYSPLASIA 6 WITHOUT POLYDACTYLY
Ewing sarcoma
  • Ewing tumor
  • Ewing's sarcoma
  • Ewing's tumor
Gorlin syndrome
  • Basal cell nevus syndrome
  • Nevoid Basal Cell Carcinoma Syndrome
Asphyxiating thoracic dystrophy 1
  • Short-rib thoracic dysplasia 1 with or without polydactyly
Hypertrichotic osteochondrodysplasia Cantu type
  • Cantu syndrome
  • Hypertrichotic osteochondrodysplasia
Metaphyseal chondrodysplasia, Schmid type
  • SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
Genitopatellar syndrome
  • ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
Saldino-Mainzer syndrome
  • Conorenal syndrome
  • Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
  • SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
  • SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY
Asphyxiating thoracic dystrophy 4
  • SHORT-RIB THORACIC DYSPLASIA 4
  • SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY

Results: 1 to 20 of 86

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