FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ID (Ontology) DOID:0112304 (Human Disease)
Definition A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
Also Known As "Megarbane-Dagher-Melike type chondrodysplasia" ; "SMDMDM"
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 Genes
 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type       2
 for disease ribbon | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type       2
 model of | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
osteochondrodysplasia              |
 |__spondylometaphyseal dysplasia__|
                                   spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  2 rec.
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Is a autosomal recessive disease
spondylometaphyseal dysplasia
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Synonyms
  • "Megarbane-Dagher-Melike type chondrodysplasia" EXACT
    "SMDMDM" EXACT OMO:0003012
Secondary IDs
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MIM:613320
ORDO:401979