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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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:D020331
 alt_id: MESH:C535807;   OMIM:157900
 xref: GARD:8549;   NCI:C84893
For additional species annotation, visit the Alliance of Genome Resources.


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Mobius syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404 		JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Bcdin3d BCDIN3 domain containing RNA methyltransferase ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
G Garin4 golgi associated RAB2 interactor family member 4 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168 		JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327 		JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617 		JBrowse link
G Kbtbd7 kelch repeat and BTB domain containing 7 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 PMID:28915250 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
G Zfp787 zinc finger protein 787 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      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 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            cranial nerve disease 528
              facial nerve disease 50
                Mobius syndrome 16
                  Carey-Fineman-Ziter syndrome 1
                  Congenital Facial Diplegia 0
                  Moebius Axonal Neuropathy Hypogonadism 0
paths to the root