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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:Chondrodysplasia, Megarbane-Dagher-Melki Type
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Accession:DOID:9005899 term browser browse the term
Synonyms:exact_synonym: Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia;   SMDMDM;   SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
 primary_id: MESH:C567644
 alt_id: OMIM:613320;   RDO:0015660;   RDO:9001261
For additional species annotation, visit the Alliance of Genome Resources.


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Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Chondrodysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar
OMIM
PMID:24786642, PMID:27354339 NCBI chr10:11,146,359...11,153,936
Ensembl chr10:11,146,359...11,153,936
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        Dwarfism 493
          Chondrodysplasia, Megarbane-Dagher-Melki Type 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  Chondrodysplasia, Megarbane-Dagher-Melki Type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.