Search Ontology:
Human Disease

spondylometaphyseal dysplasia Megarbane-Dagher-Melike type

Term ID
DOID:0112304
Synonyms
  • Megarbane-Dagher-Melike type chondrodysplasia
  • SMDMDM
Definition
A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/24786642/
References
Ontology
Human Disease   ( DOID:0112304 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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