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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, Demirhan Type
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Accession:DOID:9005796 term browser browse the term
Synonyms:exact_synonym: AMDD;   CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES;   acromesomelic chondrodysplasia, with genital anomalies
 primary_id: MESH:C537913
 alt_id: OMIM:609441;   RDO:0003830
For additional species annotation, visit the Alliance of Genome Resources.


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Acromesomelic Dysplasia, Demirhan 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 OMIM:609441
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type
OMIM
ClinVar
CTD
PMID:15805157 PMID:24129431 PMID:25741868 PMID:26105076 PMID:28492532 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      bone development disease 1380
        Dwarfism 495
          acromesomelic dysplasia 4
            Acromesomelic Dysplasia, Demirhan Type 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      musculoskeletal system disease 6284
        connective tissue disease 4374
          bone disease 3055
            bone development disease 1380
              Dwarfism 495
                acromesomelic dysplasia 4
                  Acromesomelic Dysplasia, Demirhan Type 1
paths to the root