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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:Arhinia, Choanal Atresia, and Microphthalmia
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Accession:DOID:9007423 term browser browse the term
Synonyms:exact_synonym: BAMS;   Bosma arhinia microphthalmia syndrome;   arhinia, choanal atresia, microphthalmia;   arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
 broad_synonym: SMCHD1-RELATED CONDITION
 primary_id: MESH:C537429
 alt_id: OMIM:603457


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Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia OMIM
ClinVar		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More... NCBI chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        microphthalmia 204
          Arhinia, Choanal Atresia, and Microphthalmia 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            Otorhinolaryngologic Diseases 1673
              nose disease 222
                nasal cavity disease 180
                  choanal atresia 18
                    Arhinia, Choanal Atresia, and Microphthalmia 1
paths to the root