spondylometaphyseal dysplasia Megarbane-Dagher-Melike type

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Summary

Literature (0)

DOID:0112304 - spondylometaphyseal dysplasia Megarbane-Dagher-Melike type

Disease Ontology Definition:A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.

Synonyms: Megarbane-Dagher-Melike type chondrodysplasia, SMDMDM,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pam16

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), spondylometaphyseal dysplasia (is_a)