Search Ontology:
Human Disease
spondylometaphyseal dysplasia Algerian type
- Term ID
- DOID:0112296
- Synonyms
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- spondylometaphyseal dysplasia with severe genu valgum
- spondylometaphyseal dysplasia, Schmidt type
- Definition
- A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. https://pubmed.ncbi.nlm.nih.gov/3368247/
- References
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- GARD:504
- MESH:C535794
- MIM:184253
- ORDO:93316
- SNOMEDCT_US_2023_03_01:719304005
- UMLS_CUI:C1866688
- Ontology
- Human Disease ( DOID:0112296 )
- is a type of
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Genes Involved
Zebrafish Models