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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.

show annotations for term's descendants           Sort by:
 
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 8:32,017,684...32,037,529
Ensembl chr 8:32,018,560...32,037,531 		JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar PMID:25741868 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503 		JBrowse link
G Bcdin3d BCDIN3 domain containing RNA methyltransferase ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chr 7:141,132,106...141,136,700
Ensembl chr 7:141,132,133...141,136,700 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr19:2,391,181...2,551,245
Ensembl chr19:2,393,059...2,551,245 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123 		JBrowse link
G Fam71a family with sequence similarity 71, member A ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr13:109,768,019...109,770,199
Ensembl chr13:109,768,019...109,770,199 		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 9:60,451,476...60,843,160
Ensembl chr 9:60,457,215...60,672,246 		JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 5:159,968,077...159,971,563
Ensembl chr 5:159,967,839...159,971,562 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr  X:158,835,334...158,887,055
Ensembl chr  X:158,835,811...158,886,220 		JBrowse link
G Kbtbd7 kelch repeat and BTB domain containing 7 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr15:61,692,041...61,696,506 JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr10:15,495,616...15,498,527
Ensembl chr10:15,495,684...15,498,295 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 3:110,497,760...110,517,563
Ensembl chr 3:110,498,114...110,517,163 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816 		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 chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995 		JBrowse link
G Zfp787 zinc finger protein 787 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 1:71,416,042...71,447,195
Ensembl chr 1:71,416,110...71,447,195 		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 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.