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ONTOLOGY REPORT - ANNOTATIONS


Term:Carey-Fineman-Ziter syndrome
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Accession:DOID:0080194 term browser browse the term
Definition:A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)
Synonyms:exact_synonym: Congenital nonprogressive myopathy with Moebius and Robin sequence;   Moebius sequence, Robin complex, and hypotonia;   Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences;   Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence
 primary_id: MESH:C536102
 alt_id: OMIM:254940;   RDO:0001538
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Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Weissenbacher-Zweymuller syndrome 39
        Carey-Fineman-Ziter syndrome 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  Weissenbacher-Zweymuller syndrome 39
                    Carey-Fineman-Ziter syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.