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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-brachydacty syndrome
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Accession:DOID:0111513 term browser browse the term
Definition:Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. (OMIM)
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
 primary_id: MESH:C563586
 alt_id: OMIM:156510
 xref: GARD:3568;   ORDO:2504
For additional species annotation, visit the Alliance of Genome Resources.

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metaphyseal dysplasia-maxillary hypoplasia-brachydacty 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 OMIM
ClinVar		 PMID:23290074 PMID:25741868 PMID:29891876 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092 		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 9:18,249,565...18,604,814
Ensembl chr 9:18,319,246...18,371,856 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                brachydactyly 36
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
paths to the root