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 11 130,404,923 130,428,993 RGD:8554872
G AMH anti-Mullerian hormone JBrowse link 19 2,249,279 2,252,073 RGD:8554872
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 49,836,043 49,843,129 RGD:8554872
G BSN bassoon presynaptic cytomatrix protein JBrowse link 3 49,554,489 49,671,549 RGD:8554872
G CDH11 cadherin 11 JBrowse link 16 64,943,753 65,126,112 RGD:8554872
G EBF3 EBF transcription factor 3 JBrowse link 10 129,835,232 129,964,274 RGD:8554872
G FAM71A family with sequence similarity 71 member A JBrowse link 1 212,624,447 212,626,778 RGD:8554872
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2 196,194,370 196,593,692 RGD:8554872
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 16,014,028 16,019,594 RGD:8554872
G INTS6L integrator complex subunit 6 like JBrowse link X 135,520,626 135,582,535 RGD:8554872
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 13 41,189,834 41,194,584 RGD:8554872
G KDM6B lysine demethylase 6B JBrowse link 17 7,834,210 7,854,796 RGD:8554872
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 16 367,384 370,569 RGD:8554872
G NPIPA5 nuclear pore complex interacting protein family member A5 JBrowse link 16 15,363,613 15,381,467 RGD:8554872
G PLCB2 phospholipase C beta 2 JBrowse link 15 40,285,496 40,307,973 RGD:8554872
G PTCH2 patched 2 JBrowse link 1 44,819,844 44,842,944 RGD:8554872
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 100,385,009 100,464,929 RGD:8554872
G ZNF787 zinc finger protein 787 JBrowse link 19 56,087,363 56,121,373 RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,514,586 133,524,946 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    syndrome 4349
      Mobius syndrome 19
        Carey-Fineman-Ziter syndrome 1
        Congenital Facial Diplegia 0
        Moebius Axonal Neuropathy Hypogonadism 0
Path 2
Term Annotations click to browse term
  disease 15415
    disease of anatomical entity 14228
      nervous system disease 10381
        peripheral nervous system disease 2082
          neuropathy 1908
            cranial nerve disease 371
              facial nerve disease 50
                Mobius syndrome 19
                  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.