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Disease Ontology Browser
STAD syndrome (DOID:0070699)
Alliance: disease page
Synonyms: skeletal dysplasia, tooth anomalies, and developmental delay syndrome
Alt IDs: OMIM:621495
Definition: A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13.

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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04/07/2026
MGI 6.24 		The Jackson Laboratory