ONTOLOGY REPORT - ANNOTATIONS


Term:Mobius syndrome
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Accession:DOID:13501 term browser browse the term
Definition:A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Synonyms:exact_synonym: Congenital Ophthalmoplegia and Facial Paresis;   MBS;   Mobius Syndromes;   Moebius Congenital Oculofacial Paralysis;   Moebius Sequence;   Moebius Spectrum;   Moebius Syndrome;   Moebius Syndrome 1;   Moebius Syndromes;   Möbius Sequence;   Oromandibular-limb hypogenesis spectrum
 primary_id: MESH:C535807;   MESH:D020331
 alt_id: DOID:9003042;   OMIM:157900;   RDO:0000165;   RDO:0001116
 xref: GARD:8549
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Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link NW_004955412 31,295,436 31,336,781 RGD:9068941
G Amh anti-Mullerian hormone JBrowse link NW_004955495 5,893,375 5,896,152 RGD:9068941
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link NW_004955547 427,127 432,482 RGD:9068941
G Bsn bassoon presynaptic cytomatrix protein JBrowse link NW_004955532 1,527,336 1,578,394 RGD:9068941
G Cdh11 cadherin 11 JBrowse link NW_004955433 21,613,909 21,770,968 RGD:9068941
G Ebf3 EBF transcription factor 3 JBrowse link NW_004955477 7,435,324 7,557,212 RGD:9068941
G Fam71a family with sequence similarity 71 member A JBrowse link NW_004955406 4,870,655 4,872,941 RGD:9068941
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link NW_004955403 3,902,881 4,096,189 RGD:9068941
G Hspb7 heat shock protein family B (small) member 7 JBrowse link NW_004955527 2,219,462 2,222,824 RGD:9068941
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link NW_004955518 4,979,207 4,984,721 RGD:9068941
G Kdm6b lysine demethylase 6B JBrowse link NW_004955467 9,085,239 9,106,658 RGD:9068941
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link NW_004955442 16,831,641 16,835,133 RGD:9068941
G Plcb2 phospholipase C beta 2 JBrowse link NW_004955416 7,221,326 7,240,743 RGD:9068941
G Ptch2 patched 2 JBrowse link NW_004955464 13,387,844 13,403,991 RGD:9068941
G Sim1 SIM bHLH transcription factor 1 JBrowse link NW_004955411 26,173,009 26,256,545 RGD:9068941
G Znf787 zinc finger protein 787 JBrowse link NW_004955567 511,779 537,882 RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link NW_004955513 2,835,466 2,842,325 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10540
    syndrome 3629
      Mobius syndrome 17
        Carey-Fineman-Ziter syndrome 1
        Congenital Facial Diplegia 0
        Moebius Axonal Neuropathy Hypogonadism 0
Path 2
Term Annotations click to browse term
  disease 10540
    disease of anatomical entity 10091
      nervous system disease 7755
        peripheral nervous system disease 1851
          neuropathy 1695
            cranial nerve disease 326
              facial nerve disease 46
                Mobius syndrome 17
                  Carey-Fineman-Ziter syndrome 1
                  Congenital Facial Diplegia 0
                  Moebius Axonal Neuropathy Hypogonadism 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.