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DO Term : spondylometaphyseal dysplasia Megarbane-Dagher-Melike type [DOID:0112304] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
  • synonyms:
  • ORDO:401979,
  • OMIM:613320,
  • 613320,
  • SMDMDM,
  • Megarbane-Dagher-Melike type chondrodysplasia
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Disease

Diseases --> Human genes

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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