OBO ID: DOID:0112304
Term Name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type Search Ontology:
Synonyms:
  • Megarbane-Dagher-Melike type chondrodysplasia
  • SMDMDM
Definition: A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3. https://pubmed.ncbi.nlm.nih.gov/24786642/
References:
Ontology: Human Disease   (DOID:0112304)
OTHER spondylometaphyseal dysplasia Megarbane-Dagher-Melike type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None