| 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. https://www.ncbi.nlm.nih.gov/pubmed/26621827, https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/728011, http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17436255 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702344008 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |