FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome ID (Ontology) DOID:0111513 (Human Disease)
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.
Also Known As "metaphyseal dysplasia maxillary hypoplasia brachydactyly" ; "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"
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 Genes
 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome       3
 for disease ribbon | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome       3
 model of | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  3 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
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Synonyms
  • "metaphyseal dysplasia maxillary hypoplasia brachydactyly" EXACT
    "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" EXACT
Secondary IDs
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GARD:3568
MIM:156510
ORDO:2504