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 11 129,111,542 129,135,851 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 19 2,231,984 2,236,130 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 39,802,601 39,807,948 RGD:9068941
G BSN bassoon presynaptic cytomatrix protein JBrowse link 3 50,729,927 50,841,178 RGD:9068941
G CDH11 cadherin 11 JBrowse link 16 64,367,862 64,543,189 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 10 130,677,182 130,802,938 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 1 193,052,852 193,055,165 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2B 201,346,145 201,736,143 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 16,144,200 16,148,959 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 135,007,141 135,068,622 RGD:9068941
G KDM6B lysine demethylase 6B JBrowse link 17 7,858,734 7,876,220 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 16 358,376 361,566 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 15 37,476,699 37,496,813 RGD:9068941
G PTCH2 patched 2 JBrowse link 1 45,492,111 45,513,055 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 102,104,462 102,181,062 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 19 61,919,311 61,937,557 RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,248,761 133,259,631 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11096
    syndrome 3739
      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 11096
    disease of anatomical entity 10608
      nervous system disease 8182
        peripheral nervous system disease 1908
          neuropathy 1746
            cranial nerve disease 337
              facial nerve disease 48
                Mobius syndrome 17
                  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.