Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:7240710
RGD:8554872
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Skin and Connective Tissue Diseases 4232
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              dysostosis 311
                brachydactyly 31
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.