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ONTOLOGY REPORT - ANNOTATIONS


Term:hypertelorism, microtia, facial clefting syndrome
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Accession:DOID:14670 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0003507
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Term Annotations click to browse term
  disease 15619
    syndrome 5154
      hypertelorism, microtia, facial clefting syndrome 0
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  orofacial cleft 114
                    cleft lip 50
                      hypertelorism, microtia, facial clefting syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.