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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:spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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Accession:DOID:0112304 term browser browse the term
Definition:A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: Chondrodysplasia, Megarbane-Dagher-Melki Type;   Megarbane-Dagher-Melike type chondrodysplasia;   Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia;   SMDMDM;   spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
 primary_id: MESH:C567644
 alt_id: DOID:9005899;   OMIM:613320
 xref: ORDO:401979
For additional species annotation, visit the Alliance of Genome Resources.



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spondylometaphyseal dysplasia Megarbane-Dagher-Melike 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: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar
PMID:24786642 PMID:27354339 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      endocrine system disease 6262
        Dwarfism 739
          spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Skin and Connective Tissue Diseases 6613
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              osteochondrodysplasia 609
                spondylometaphyseal dysplasia 13
                  spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
paths to the root