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ONTOLOGY REPORT - ANNOTATIONS


Term:acromesomelic dysplasia, Grebe type
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Accession:DOID:0080052 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. (DO)
Synonyms:exact_synonym: AMDG;   Brazilian achondrogenesis;   Grebe chondrodysplasia;   Grebe dysplasia;   Grebe syndrome
 related_synonym: achondrogenesis type II, formerly
 primary_id: MESH:C537915
 alt_id: OMIM:200700;   RDO:0003833
 xref: ORDO:2098
For additional species annotation, visit the Alliance of Genome Resources.


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acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
RGD:12437075
RGD:12437083
RGD:12487346

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        Musculoskeletal Abnormalities 1302
          acromesomelic dysplasia, Grebe type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Grebe type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.