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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:Carey-Fineman-Ziter Syndrome 2
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Accession:DOID:9004768 term browser browse the term
Definition:An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Caused by homozygous mutation in MYMX gene on chromosome 6p21.
Synonyms:exact_synonym: CFZS2
 primary_id: OMIM:619941


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Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 ClinVar PMID:35642635 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Weissenbacher-Zweymuller syndrome 47
        Carey-Fineman-Ziter syndrome 3
          Carey-Fineman-Ziter Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Craniofacial Abnormalities 2640
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  Weissenbacher-Zweymuller syndrome 47
                    Carey-Fineman-Ziter syndrome 3
                      Carey-Fineman-Ziter Syndrome 2 2
paths to the root