spondylometaphyseal dysplasia Megarbane-Dagher-Melike type Disease Ontology Browser

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Disease Ontology Browser

spondylometaphyseal dysplasia Megarbane-Dagher-Melike type (DOID:0112304)
Alliance: disease page
Synonyms: Megarbane-Dagher-Melike type chondrodysplasia; SMDMDM
Alt IDs: OMIM:613320, ORDO:401979
Definition: A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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