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ONTOLOGY REPORT - ANNOTATIONS


Term:Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly
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Accession:DOID:9004088 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
 primary_id: OMIM:156510;   RDO:9000558
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Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:7240710

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      bone development disease 892
        osteochondrodysplasia 402
          Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Skin and Connective Tissue Diseases 3920
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              osteochondrodysplasia 402
                Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.