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(Withdrawn symbols: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(Withdrawn symbols: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)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)