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Metadata
DOID DOID:5684
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

NCI2004_11_17:C3034

NCI:C92206

OMIM:271510

UMLS_CUI:C0920349

Subsets

NCIthesaurus

Synonyms

sponastrime dysplasia [EXACT]

Spondylar and nasal Alterations-Striated Metaphyses syndrome [EXACT]

Relationships

is_a spondyloepimetaphyseal dysplasia

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