Search Ontology:
Human Disease

spondyloepiphyseal dysplasia, Holling type

Term ID
DOID:0070825
Synonyms
  • SEDH
Definition
A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/35266227/
References
Ontology
Human Disease   ( DOID:0070825 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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