Select item 44287 Marfan syndrome FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections MARFAN SYNDROME, TYPE I Marfan syndrome type 1 Marfan syndrome, classic Marfan's syndrome Select item 358383 Thanatophoric dysplasia type 1 LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE Thanatophoric Dysplasia Type I Select item 1640616 Van der Woude syndrome 1 Cleft lip and/or palate with mucous cysts of lower lip Select item 61235 Radial aplasia-thrombocytopenia syndrome Absent radii and thrombocytopenia TAR syndrome Thrombocytopenia Absent Radius Syndrome Thrombocytopenia absent radii Select item 8584 Ellis-van Creveld syndrome Chondroectodermal dysplasia EVC-Related Ellis-van Creveld Syndrome EVC2-Related Ellis-van Creveld Syndrome Mesoectodermal dysplasia Select item 79381 Chondrodysplasia punctata 2 X-linked dominant CONRADI-HUNERMANN-HAPPLE SYNDROME Chondrodysplasia punctata, X-linked dominant Conrad Hunermann Happle syndrome Happle syndrome Hunermann-Conradi Syndrome Select item 19860 Asphyxiating thoracic dystrophy 3 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I Polydactyly with neonatal chondrodystrophy type 1 Polydactyly with neonatal chondrodystrophy type III SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC SRPS type 1 SRPS type 3 Saldino-Noonan Syndrome Short Rib Polydactyly Syndrome, Verma-Naumoff Type Short rib polydactyly syndrome 2B Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome Saldino-Noonan type Short rib-polydactyly syndrome type 1 Short-rib polydactyly syndrome type I Short-rib polydactyly syndrome type III Short-rib thoracic dysplasia 3 with or without polydactyly Verma Naumoff syndrome Select item 43781 Infantile cortical hyperostosis Caffey Disease Hyperostosis, Cortical, Congenital P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE Select item 834049 Spondylocostal dysostosis 1, autosomal recessive DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive Select item 226975 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 Select item 7929 Primary myelofibrosis Myelofibrosis, somatic Suspected idiopathic myelofibrosis Select item 331974 Platyspondylic dysplasia, Torrance type Lethal short-limbed platyspondylic dwarfism Torrance type Platyspondylic lethal skeletal dysplasia Torrance type Thanatophoric dysplasia torrance variant Select item 44252 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 Select item 107816 Ewing sarcoma Ewing tumor Ewing's sarcoma Ewing's tumor Select item 2554 Gorlin syndrome Basal cell nevus syndrome Nevoid Basal Cell Carcinoma Syndrome Select item 1648057 Asphyxiating thoracic dystrophy 1 Short-rib thoracic dysplasia 1 with or without polydactyly Select item 208647 Hypertrichotic osteochondrodysplasia Cantu type Cantu syndrome Hypertrichotic osteochondrodysplasia Select item 78550 Metaphyseal chondrodysplasia, Schmid type SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE Select item 381208 Genitopatellar syndrome ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION Select item 341455 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 
