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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: AMD2A;   AMDG;   Brazilian achondrogenesis;   Grebe chondrodysplasia;   Grebe dysplasia;   Grebe syndrome;   acromesomelic dysplasia 2A;   chondrodysplasia, Grebe type
 related_synonym: achondrogenesis type II, formerly
 primary_id: MESH:C537915
 alt_id: MIM:200700
 xref: GARD:1300;   ORDO:2098


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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
ISS		 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: ACROMESOMELIC DYSPLASIA 2A | ClinVar Annotator: match by term: Grebe syndrome
CTD Direct Evidence: marker/mechanism
OMIM:200700		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More... RGD:12437075, RGD:12437083, RGD:12487346 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3457
          acromesomelic dysplasia, Grebe type 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Dwarfism 878
                acromesomelic dysplasia 90
                  acromesomelic dysplasia, Grebe type 1
paths to the root