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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:hypertelorism, microtia, facial clefting syndrome
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Accession:DOID:14670 term browser browse the term
Definition:A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. (DO)
Synonyms:exact_synonym: Bixler Christian Gorlin syndrome;   Bixler syndrome;   HMC syndrome;   hypertelorism-microtia-clefting syndrome
 primary_id: MESH:C537632
 alt_id: OMIM:239800
 xref: ORDO:2213
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      hypertelorism, microtia, facial clefting syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      hypertelorism, microtia, facial clefting syndrome 0
paths to the root