| Metadata | |
|---|---|
| ID | DOID:0070809 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070809 Copy |
| Name | neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities |
| Definition | An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. https://pubmed.ncbi.nlm.nih.gov/38465576/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012750 exactMatch MIM:621263 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDBES [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |