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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
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Accession:DOID:0111513 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MDMHB;   metaphyseal dysplasia with maxillary hypoplasia and brachydactyly;   metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;   metaphyseal dysplasia, maxillary hypoplasia, brachydactyly
 broad_synonym: RUNX2-RELATED CONDITION
 primary_id: MESH:C563586
 alt_id: OMIM:156510
 xref: GARD:3568;   ORDO:2504


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metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition OMIM
ClinVar		 PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 More... NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ClinVar PMID:23290074 NCBI chr 6:44,406,978...44,960,039 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    Developmental Disease 13611
      bone development disease 2303
        osteochondrodysplasia 871
          metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      Skin and Connective Tissue Diseases 6889
        connective tissue disease 5361
          bone disease 3883
            bone development disease 2303
              dysostosis 584
                brachydactyly 35
                  metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
paths to the root