[Thanatophoric dysplasia]. 1986

L García, and G Juárez, and F Rivas, and J M Cantú

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D010009 Osteochondrodysplasias Abnormal development of cartilage and bone. Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013796 Thanatophoric Dysplasia A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period. Dwarfism, Thanatophoric,Thanatophoric Dwarfism,Thanatophoric Short Stature,Dwarfisms, Thanatophoric,Dysplasia, Thanatophoric,Dysplasias, Thanatophoric,Thanatophoric Dwarfisms,Thanatophoric Dysplasias

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