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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 (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.

Disease References using Mouse Models (1)

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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MGI 6.14
The Jackson Laboratory