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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:Spinal Muscular Atrophy with Congenital Bone Fractures 2
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Accession:DOID:9007555 term browser browse the term
Synonyms:exact_synonym: SMABF2
 primary_id: MIM:616867


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Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 OMIM
ClinVar		 PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 More... NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Wounds and Injuries 993
      Bone Fractures 90
        Spinal Muscular Atrophy with Congenital Bone Fractures 2
          Spinal Muscular Atrophy with Congenital Bone Fractures 2 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              motor neuron disease 547
                spinal muscular atrophy 153
                  childhood spinal muscular atrophy 9
                    Spinal Muscular Atrophy with Congenital Bone Fractures 2
                      Spinal Muscular Atrophy with Congenital Bone Fractures 2 1
paths to the root