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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: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 RUNX2 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
 primary_id: MESH:C563586
 alt_id: OMIM:156510
 xref: GARD:3568;   ORDO:2504


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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 Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ClinVar PMID:25741868 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ClinVar PMID:25741868 NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome OMIM
ClinVar		 PMID:10521292 PMID:11857736 PMID:16140555 PMID:23290074 PMID:25741868 More... NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ClinVar PMID:23290074 NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      bone development disease 2299
        osteochondrodysplasia 840
          metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 4
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Skin and Connective Tissue Diseases 7366
        connective tissue disease 5725
          bone disease 4227
            bone development disease 2299
              dysostosis 570
                brachydactyly 37
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 4
paths to the root