Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition		 OMIM
CTD
ClinVar		 PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 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 with maxillary hypoplasia and brachydactyly 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 21126
    Developmental Disease 18447
      bone development disease 2304
        osteochondrodysplasia 860
          metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      Skin and Connective Tissue Diseases 7436
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              dysostosis 577
                brachydactyly 33
                  metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 2
paths to the root