Search Ontology:
Human Disease
spondyloepimetaphyseal dysplasia, Sponastrime type
- Term ID
- DOID:5684
- 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
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- GARD:4970
- MESH:C535786
- MIM:271510
- NCI:C129031
- ORDO:93357
- SNOMEDCT_US_2025_09_01:389161008
- UMLS_CUI:C1300260
- Ontology
- Human Disease ( DOID:5684 )
Other Pages
Genes Involved
Zebrafish Models