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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:CHARGE syndrome
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Accession:DOID:0050834 term browser browse the term
Definition:A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)
Synonyms:exact_synonym: CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies;   CHARGE Associations;   CHARGE Syndromes;   CHARGE association;   HHS;   Hall Hittner syndrome;   familial CHARGE syndrome;   familial CHARGE syndromes
 broad_synonym: CHD7-RELATED CONDITION
 primary_id: MESH:D058747
 alt_id: OMIM:214800
 xref: GARD:29;   NCI:C75100;   ORDO:138


show annotations for term's descendants           Sort by:
CHARGE syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,318...72,107,044 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:altered localization:brain: RGD PMID:22658483 RGD:9068442 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CA8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 4:73,047,867...73,172,215
Ensembl chr 4:73,047,847...73,141,989 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO OMIM:214800 MouseDO NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHD7-related condition | ClinVar Annotator: match by term: Hall-Hittner syndrome OMIM
ClinVar		 PMID:7651832 PMID:8073582 PMID:9536098 PMID:10590394 PMID:14626219 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G CLVS1 clavesin 1 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 4:72,104,521...72,257,259
Ensembl chr 4:72,105,972...72,257,226 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hall-Hittner syndrome ClinVar PMID:29300383 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760 		JBrowse link
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G KDM6A lysine demethylase 6A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 PMID:29300383 NCBI chr  X:39,953,764...40,154,197
Ensembl chr  X:39,953,814...40,154,029 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G PCLO piccolo presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 9:97,114,503...97,513,081
Ensembl chr 9:97,114,511...97,513,072 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 PMID:29300383 NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		JBrowse link
G RAB2A RAB2A, member RAS oncogene family ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:18413373 PMID:19772954 PMID:22258531 PMID:22902603 PMID:28492532 NCBI chr 4:72,800,617...72,882,183
Ensembl chr 4:72,800,623...72,882,151 		JBrowse link
G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950 		JBrowse link
G SEMA3D semaphorin 3D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:28492532 NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: CHARGE association
ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome		 ClinVar PMID:9536098 PMID:15235037 PMID:16199547 PMID:17576681 PMID:25640679 More... NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: CHARGE association ClinVar NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TP53 tumor protein p53 ISO OMIM:214800 MouseDO NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 PMID:30711679 NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      CHARGE syndrome 20
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        Congenital Abnormalities 7314
          Multiple Abnormalities 3572
            CHARGE syndrome 20
paths to the root