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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: MIM:201250
 xref: GARD:506;   ORDO:968


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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 ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type ClinVar PMID:29322508 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS 		OMIM:201250
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type 		OMIM
MouseDO
ClinVar		 PMID:2703235 PMID:8589725 PMID:14735582 PMID:17384641 PMID:18203755 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        Dwarfism 867
          acromesomelic dysplasia 91
            acromesomelic dysplasia, Hunter-Thompson type 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              Dwarfism 867
                acromesomelic dysplasia 91
                  acromesomelic dysplasia, Hunter-Thompson type 2
paths to the root