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_004936572 1,978,642 1,999,411 RGD:9068941
G Amh anti-Mullerian hormone JBrowse link NW_004936588 1,342,791 1,345,746 RGD:9068941
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link NW_004936512 7,516,324 7,521,063 RGD:9068941
G Bsn bassoon presynaptic cytomatrix protein JBrowse link NW_004936529 1,182,872 1,287,794 RGD:9068941
G Cdh11 cadherin 11 JBrowse link NW_004936475 15,513,402 15,662,330 RGD:9068941
G Ebf3 EBF transcription factor 3 JBrowse link NW_004936486 16,978,048 17,092,209 RGD:9068941
G Fam71a family with sequence similarity 71 member A JBrowse link NW_004936557 893,896 895,602 RGD:9068941
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link NW_004936506 2,704,885 2,913,663 RGD:9068941
G Hspb7 heat shock protein family B (small) member 7 JBrowse link NW_004936474 3,583,999 3,587,316 RGD:9068941
G Kdm6b lysine demethylase 6B JBrowse link NW_004936595 1,077,318 1,099,082 RGD:9068941
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link NW_004936501 580,863 583,540 RGD:9068941
G Plcb2 phospholipase C beta 2 JBrowse link NW_004936471 3,756,978 3,776,452 RGD:9068941
G Ptch2 patched 2 JBrowse link NW_004936474 26,052,277 26,069,500 RGD:9068941
G Sim1 SIM bHLH transcription factor 1 JBrowse link NW_004936651 1,841,040 1,911,944 RGD:9068941
G Znf787 zinc finger protein 787 JBrowse link NW_004936981 338,684 354,119 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_004936669 3,404,729 3,413,123 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10699
    syndrome 3656
      Mobius syndrome 16
        Carey-Fineman-Ziter syndrome 1
        Congenital Facial Diplegia 0
        Moebius Axonal Neuropathy Hypogonadism 0
Path 2
Term Annotations click to browse term
  disease 10699
    disease of anatomical entity 10235
      nervous system disease 7882
        peripheral nervous system disease 1866
          neuropathy 1708
            cranial nerve disease 324
              facial nerve disease 46
                Mobius syndrome 16
                  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.