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
Accession: DOID:13501
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:30065953 More...
NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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