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Disease Ontology Browser
Helsmoortel-Van Der Aa Syndrome (DOID:0070058)
Alliance: disease page
Synonyms: autosomal dominant mental retardation 28; HVDAS; MRD28
Alt IDs: OMIM:615873
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory