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ONTOLOGY REPORT - ANNOTATIONS


Term:acromesomelic dysplasia, Hunter-Thompson type
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Accession:DOID:0080051 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)
Synonyms:exact_synonym: AMDH
 primary_id: OMIM:201250
 alt_id: RDO:0000908
 xref: ORDO:968
For additional species annotation, visit the Alliance of Genome Resources.


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acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        Dwarfism 308
          acromesomelic dysplasia 4
            acromesomelic dysplasia, Hunter-Thompson type 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              Dwarfism 308
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Hunter-Thompson type 2
paths to the root

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