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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:Fanconi anemia complementation group C
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Accession:DOID:0111087 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: FA3;   FAC;   FACC;   FANCC;   FANCONI ANEMIA, GROUP C;   FANCONI PANCYTOPENIA, TYPE 3
 primary_id: OMIM:227645
 alt_id: RDO:0015790
 xref: NCI:C125704
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar PMID:1574115 PMID:1641028 PMID:8103176 PMID:8128956 PMID:8348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9398857 PMID:10431244 PMID:11050007 PMID:12093742 PMID:12670332 PMID:14695169 PMID:15364573 PMID:15695377 PMID:16015582 PMID:16429406 PMID:17924555 PMID:19278965 PMID:20869034 PMID:21520333 PMID:22720145 PMID:22778927 PMID:23028338 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:28425259 PMID:28492532 PMID:28767289 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30967997 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar Annotator: match by term: FACC
ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by OMIM:227645
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:8103176 PMID:8128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8799375 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9398857 PMID:09452030 PMID:9521584 PMID:09616183 PMID:10431244 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12670332 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16015582 PMID:16429406 PMID:17909071 PMID:17924555 PMID:19278965 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21520333 PMID:21659346 PMID:22701786 PMID:22720145 PMID:22778927 PMID:23028338 PMID:23613520 PMID:23634996 PMID:23934222 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29643063 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30967997 PMID:31300551 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital hypoplastic anemia 110
        Fanconi anemia 43
          Fanconi anemia complementation group C 2
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2056
        hematopoietic system disease 1639
          bone marrow disease 480
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                congenital hypoplastic anemia 110
                  Fanconi anemia 43
                    Fanconi anemia complementation group C 2
paths to the root