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Disease Ontology Browser
Pitt-Hopkins syndrome (DOID:0060488)
Alliance: disease page
Alt IDs: OMIM:610954, MESH:C537403, NCI:C129872, ORDO:2896, UMLS_CUI:C1970431
Definition: A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.

Disease References using Mouse Models (4)
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
03/25/2025
MGI 6.24 		The Jackson Laboratory