Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydactyly Syndrome
Disease ID: disease_node_15647
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| Dbxref | GARD:3568, MIM:156510, ORDO:2504 |
|---|---|
| Subclassof | DOID_0050736, DOID_2256 |
| Data Source | DOID |
| Synonyms | metaphyseal dysplasia maxillary hypoplasia brachydactyly, metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly |
| Doid Label | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15647 |
| Doid Id | DOID_0111513 |
| Label | Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydactyly Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)