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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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome ClinVar NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Fam71a family with sequence similarity 71, member A ISO ClinVar Annotator: match by term: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome 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: Mobius Syndrome ClinVar 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: Mobius Syndrome 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 ClinVar
OMIM
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 17207
    syndrome 8126
      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 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        peripheral nervous system disease 2533
          neuropathy 2330
            cranial nerve disease 440
              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