| Metadata | |
|---|---|
| ID | DOID:0112304 |
| Name | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Megarbane-Dagher-Melike type chondrodysplasia [EXACT] SMDMDM [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |