OBO ID: DOID:5684
Term Name: spondyloepimetaphyseal dysplasia, Sponastrime type Search Ontology:
Synonyms:
  • sponastrime dysplasia
  • Spondylar and nasal Alterations-Striated Metaphyses syndrome
Definition: A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (2)
References:
Ontology: Human Disease   (DOID:5684)
OTHER spondyloepimetaphyseal dysplasia, Sponastrime type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TONSL Spondyloepimetaphyseal dysplasia, sponastrime type 271510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)