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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:Microtia, Hearing Impairment, and Cleft Palate
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Accession:DOID:9003920 term browser browse the term
Synonyms:narrow_synonym: MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
 primary_id: MESH:C567359;   RDO:0015450
 alt_id: MIM:612290



show annotations for term's descendants           Sort by:
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
JBrowse link
G Hoxa2 homeobox A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
OMIM
CTD
ClinVar
PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    physical disorder 5183
      orofacial cleft 157
        cleft palate 118
          Microtia, Hearing Impairment, and Cleft Palate 2
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7748
          Musculoskeletal Abnormalities 3418
            Craniofacial Abnormalities 2748
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  orofacial cleft 157
                    cleft palate 118
                      Microtia, Hearing Impairment, and Cleft Palate 2
paths to the root