| Metadata | |
|---|---|
| ID | DOID:0112102 |
| PURL | http://purl.obolibrary.org/obo/DOID_0112102 Copy |
| Name | Malan syndrome |
| Definition | A bone development disease that is characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13.13. https://pubmed.ncbi.nlm.nih.gov/20673863/ |
| Xrefs | |
| Synonyms |
MALNS [EXACT] Sotos syndrome 2 [EXACT] SOTOS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |