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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by OMIM:200700
DNA:insertion mutation:cds:1114insGAGT(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)
ClinVar Annotator: match by term: Grebe syndrome
OMIM
ClinVar
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532, PMID:19038017, PMID:23812741, PMID:18979166 RGD:12437075, RGD:12437083, RGD:12487346 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        Musculoskeletal Abnormalities 1781
          acromesomelic dysplasia, Grebe type 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              Dwarfism 496
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Grebe type 1
paths to the root