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 5 4,479,874 4,517,211 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 20 56,785,960 56,788,815 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 27 4,851,156 4,860,322 RGD:9068941
G BSN bassoon presynaptic cytomatrix protein JBrowse link 20 39,601,803 39,696,831 RGD:9068941
G CDH11 cadherin 11 JBrowse link 5 83,977,267 84,122,712 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 28 38,489,635 38,601,800 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 7 10,799,790 10,801,939 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 37 5,850,518 6,213,353 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 2 81,628,051 81,631,939 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 105,996,058 106,052,347 RGD:9068941
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 22 9,388,467 9,391,099 RGD:9068941
G KDM6B lysine demethylase 6B JBrowse link 5 32,689,000 32,711,026 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 6 40,146,050 40,148,024 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 30 7,472,208 7,493,106 RGD:9068941
G PTCH2 patched 2 JBrowse link 15 15,488,357 15,503,748 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 12 58,480,744 58,552,126 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 1 101,773,860 101,798,593 RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 49,905,580 49,919,849 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11243
    syndrome 3762
      Mobius syndrome 18
        Carey-Fineman-Ziter syndrome 1
        Congenital Facial Diplegia 0
        Moebius Axonal Neuropathy Hypogonadism 0
Path 2
Term Annotations click to browse term
  disease 11243
    disease of anatomical entity 10752
      nervous system disease 8285
        peripheral nervous system disease 1927
          neuropathy 1764
            cranial nerve disease 344
              facial nerve disease 48
                Mobius syndrome 18
                  Carey-Fineman-Ziter syndrome 1
                  Congenital Facial Diplegia 0
                  Moebius Axonal Neuropathy Hypogonadism 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.