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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: OMIM:612290
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa2 homeobox A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612290
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 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      orofacial cleft 124
        cleft palate 92
          Microtia, Hearing Impairment, and Cleft Palate 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Musculoskeletal Abnormalities 2132
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft palate 92
                      Microtia, Hearing Impairment, and Cleft Palate 2
paths to the root