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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:Bent Bone Dysplasia Syndrome 2
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Accession:DOID:9006726 term browser browse the term
Definition:A disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Caused by compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.
Synonyms:exact_synonym: BBDS2
 broad_synonym: LAMA5-RELATED CONDITION
 primary_id: OMIM:620076
 xref: MONDO:0859573

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Bent Bone Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 OMIM
ClinVar		 PMID:28492532 PMID:33242826 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Bent Bone Dysplasia Syndrome 3
        Bent Bone Dysplasia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Skin and Connective Tissue Diseases 6322
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2150
              Bent Bone Dysplasia Syndrome 3
                Bent Bone Dysplasia Syndrome 2 1
paths to the root