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brachydactyly type B2 - 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:brachydactyly type B2
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Accession:DOID:0110975 term browser browse the term
Definition:A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: BDB2
 primary_id: MIM:611377
 alt_id: RDO:0009521
 xref: ICD10CM:Q73.8;   ORDO:140908

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show annotations for term's descendants           Sort by:
brachydactyly type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nog noggin no_association ISO DNA:mutation:cds:p.G92E(human)
ClinVar Annotator: match by term: Brachydactyly type B2		 OMIM
RGD
ClinVar		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051 		JBrowse link
G G NOG noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
G P NOG noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
G S Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
G D NOG noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G B NOG noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
G C Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		JBrowse link
G R Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483, RGD:12801481 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G M Nog noggin no_association ISO ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801483, RGD:12801481 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G H NOG noggin no_association IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Brachydactyly type B2
DNA:mutation:cds:p.G92E(human)		 ClinVar
OMIM
RGD		 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 More... RGD:12801481, RGD:12801483 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          brachydactyly type B2 10
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
                brachydactyly 340
                  brachydactyly type B2 10
paths to the root