Disease: Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Name
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Synonmys
SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION , SPONASTRIME DYSPLASIA , SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES
Classification
bone, developmental, genetic
Associated Genes
TONSL (Withdrawn symbols: IKBR, NFKBIL2 )
Mouse Orthologs
Tonsl (Withdrawn symbols: 2810439M11Rik, Nfkbil2 )
Source
OMIM:271510 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

Learn about how to interpret our results in the Disease Models Help pages

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