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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 8 32,017,684 32,037,529 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:8554872
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link 7 141,132,106 141,136,700 RGD:8554872
G Bsn bassoon (presynaptic cytomatrix protein) JBrowse link 8 116,873,721 116,965,396 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 19 2,391,181 2,551,245 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 13 109,768,019 109,770,199 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 9 60,451,476 60,843,160 RGD:8554872
G Hspb7 heat shock protein family B (small) member 7 JBrowse link 5 159,968,077 159,971,563 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 158,835,334 158,887,055 RGD:8554872
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link 15 61,692,041 61,696,506 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 10 15,495,616 15,498,527 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 3 110,497,760 110,517,563 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 1 71,416,042 71,447,195 RGD:8554872
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
RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      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 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            cranial nerve disease 352
              facial nerve disease 49
                Mobius syndrome 18
                  Carey-Fineman-Ziter syndrome 1
                  Congenital Facial Diplegia 0
                  Moebius Axonal Neuropathy Hypogonadism 0
paths to the root