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Disease Ontology Browser
salt and pepper syndrome (DOID:0060470)
Alliance: disease page
Synonyms: salt & pepper syndrome; salt-and-pepper syndrome
Alt IDs: OMIM:609056, ORDO:370938
Definition: A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.


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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last database update
01/12/2021
MGI 6.16
The Jackson Laboratory