Search Ontology:
Human Disease

spondylometaphyseal dysplasia Algerian type

Term ID
DOID:0112296
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0112296 )
Relationships
is a type of
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Genes Involved
Zebrafish Models