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 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8 JBrowse link 9 30,942,562 30,963,838 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 10 80,805,028 80,807,679 RGD:8554872
G Bcdin3d BCDIN3 domain containing JBrowse link 15 99,470,084 99,474,730 RGD:8554872
G Bsn bassoon JBrowse link 9 108,096,022 108,190,419 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 8 102,632,095 102,785,983 RGD:8554872
G Defb10 defensin beta 10 JBrowse link 8 21,858,901 21,862,011 RGD:8554872
G Ebf3 early B cell factor 3 JBrowse link 7 137,193,671 137,322,777 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 1 191,162,584 191,164,817 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 53,806,872 54,195,034 RGD:8554872
G Hspb7 heat shock protein family, member 7 (cardiovascular) JBrowse link 4 141,420,779 141,425,310 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 56,454,825 56,507,843 RGD:8554872
G Kbtbd7 kelch repeat and BTB (POZ) domain containing 7 JBrowse link 14 79,426,511 79,431,039 RGD:8554872
G Kdm6b KDM1 lysine (K)-specific demethylase 6B JBrowse link 11 69,398,508 69,418,147 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 17 26,123,503 26,126,613 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 2 118,705,003 118,728,662 RGD:8554872
G Ptch2 patched 2 JBrowse link 4 117,095,780 117,116,101 RGD:8554872
G Sim1 single-minded family bHLH transcription factor 1 JBrowse link 10 50,894,672 50,989,156 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 7 6,131,489 6,159,550 RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 2 27,061,636 27,072,161 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11726
    syndrome 3891
      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 11726
    disease of anatomical entity 11187
      nervous system disease 8520
        peripheral nervous system disease 1975
          neuropathy 1808
            cranial nerve disease 358
              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.