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acrofacial dysostosis Cincinnati type - Ontology Report - Rat Genome Database

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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:acrofacial dysostosis Cincinnati type
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Accession:DOID:0060353 term browser browse the term
Definition:An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: AFDCIN;   Cincinnati type of acrofacial dysostosis
 broad_synonym: POLR1A-RELATED CONDITION
 primary_id: MIM:616462

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acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126806264 MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794 IAGP ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
ClinVar Annotator: match by term: POLR1A-related condition 		ClinVar PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 2:86,069,472...86,070,671 JBrowse link
G N Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chrNW_004624749:17,138,352...17,216,039
Ensembl chrNW_004624749:17,138,476...17,215,124 		JBrowse link
G G POLR1A RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr14:21,050,526...21,127,010
Ensembl chr14:21,050,799...21,125,990 		JBrowse link
G P POLR1A RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 3:58,670,377...58,750,441
Ensembl chr 3:58,667,971...58,750,421 		JBrowse link
G S Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chrNW_004936712:1,331,016...1,390,544
Ensembl chrNW_004936712:1,331,073...1,389,856 		JBrowse link
G D POLR1A RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr17:38,990,379...39,070,910
Ensembl chr17:39,000,778...39,070,356 		JBrowse link
G B POLR1A RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr2A:86,070,160...86,157,606
Ensembl chr2A:87,622,466...87,705,357 		JBrowse link
G C Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chrNW_004955424:1,507,935...1,595,068
Ensembl chrNW_004955424:1,508,037...1,593,108 		JBrowse link
G R Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		JBrowse link
G M Polr1a polymerase (RNA) I polypeptide A ISO ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919 		JBrowse link
G H POLR1A RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type
ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition 		ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 More... NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      bone development disease 24312
        dysostosis 6529
          acrofacial dysostosis 45
            acrofacial dysostosis Cincinnati type 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              dysostosis 6529
                synostosis 4109
                  craniosynostosis 3450
                    Crouzon syndrome 353
                      Mandibulofacial Dysostosis 292
                        acrofacial dysostosis Cincinnati type 11
paths to the root