| Metadata | |
|---|---|
| ID | DOID:0111513 |
| Name | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome |
| Definition | An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. https://www.ncbi.nlm.nih.gov/pubmed/7137223, https://www.ncbi.nlm.nih.gov/pubmed/23290074 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
metaphyseal dysplasia maxillary hypoplasia brachydactyly [EXACT] metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |