| Metadata | |
|---|---|
| ID | DOID:0070757 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070757 Copy |
| Name | Pilarowski-Bjornsson syndrome |
| Definition | An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q. https://pubmed.ncbi.nlm.nih.gov/28866611/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1217382002 |
| SKOS |
exactMatch MIM:617682 exactMatch GARD:0017970 exactMatch ORDO:529965 exactMatch UMLS_CUI:C4540131 broadMatch ICD10CM:Q87.0 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |