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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, 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: AMD2C;   AMDH;   acromesomelic dysplasia 2C;   acromesomelic dysplasia 2C, Hunter-Thompson type
 primary_id: OMIM:201250
 xref: GARD:506;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type		 CTD
ClinVar		 PMID:29322508 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type OMIM
ClinVar		 PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 More... NCBI chr 3:144,454,306...144,458,757
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 18162
    disease of anatomical entity 17537
      endocrine system disease 6294
        Dwarfism 738
          acromesomelic dysplasia 5
            acromesomelic dysplasia, Hunter-Thompson type 2
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      musculoskeletal system disease 7230
        connective tissue disease 5013
          bone disease 3683
            bone development disease 1873
              Dwarfism 738
                acromesomelic dysplasia 5
                  acromesomelic dysplasia, Hunter-Thompson type 2
paths to the root