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Metadata
ID	DOID:0060488
Name	Pitt-Hopkins syndrome
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. http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17436255, https://www.ncbi.nlm.nih.gov/pubmed/26621827, https://www.ncbi.nlm.nih.gov/pubmed/728011
Xrefs	GARD:4372 MESH:C537403 MIM:610954 NCI:C129872 ORDO:2896 SNOMEDCT_US_2023_03_01:702344008 UMLS_CUI:C1970431
Subsets	DO_FlyBase_slim DO_rare_slim NCIthesaurus
Parent Relationships	is_a syndrome is_a autosomal dominant disease