| Metadata | |
|---|---|
| ID | DOID:5684 |
| PURL | http://purl.obolibrary.org/obo/DOID_5684 Copy |
| Name | spondyloepimetaphyseal dysplasia, Sponastrime type |
| 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. http://omim.org/entry/271510, https://www.ncbi.nlm.nih.gov/pubmed/10797420 |
| Xrefs |
SNOMEDCT_US_2025_09_01:389161008 |
| SKOS |
exactMatch UMLS_CUI:C1300260 exactMatch NCI:C129031 exactMatch ORDO:93357 exactMatch MESH:C535786 exactMatch GARD:4970 |
| Subsets |
NCIthesaurus |
| Synonyms |
sponastrime dysplasia [EXACT] Spondylar and nasal Alterations-Striated Metaphyses syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |