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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:Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Synonyms:exact_synonym: CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies;   CHARGE Associations;   CHARGE Syndromes;   CHARGE association;   Familial CHARGE Syndrome;   Familial CHARGE Syndromes;   HHS;   Hall Hittner syndrome
 primary_id: MESH:D058747
 alt_id: OMIM:214800;   RDO:0007854
 xref: GARD:29;   NCI:C75100;   ORDO:138
For additional species annotation, visit the Alliance of Genome Resources.


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 Bmp4 bone morphogenetic protein 4 ISO mRNA:altered localization:brain: RGD PMID:22658483 RGD:9068442 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISS OMIM:214800 MouseDO NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: CHARGE association
ClinVar Annotator: match by term: Hall-Hittner syndrome
ClinVar Annotator: match by term: CHARGE syndrome
ClinVar Annotator: match by OMIM:214800
DNA:nonsense mutation:exon:p.S1897X (c.5690C>A) (mouse)
DNA:missense mutations:exon:p.Q1214R (c.3641A>G), p.L1302P (c.3905T>C), p.V1742D (c.5225T>A) (human)
DNA:missense mutation, SNP:exon, 5' utr:p.L979P (c.2936T>C), c.-66C>T (human)
DNA:nonsense mutations, splice-site mutations: :multiple
DNA:missense mutations: :p.W983G, p.D1596G, p.R2319C (human)
DNA:missense mutations: :p.C1588W (c.4764T>G), (p.D1825N (c.5473G>A) (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10590394, PMID:14626219, PMID:15300250, PMID:15666308, PMID:16155193, PMID:16169932, PMID:16400610, PMID:16615981, PMID:16763960, PMID:17253929, PMID:17299439, PMID:17334995, PMID:17661815, PMID:17937444, PMID:18073582, PMID:18074359, PMID:18413373, PMID:18414213, PMID:18445044, PMID:18484313, PMID:18505430, PMID:18834967, PMID:18978652, PMID:19021638, PMID:19772954, PMID:20130577, PMID:20186815, PMID:20301296, PMID:20624498, PMID:20884005, PMID:21158681, PMID:21378379, PMID:21532573, PMID:21554267, PMID:21856375, PMID:21931733, PMID:21995344, PMID:22033296, PMID:22035731, PMID:22258531, PMID:22461308, PMID:22462537, PMID:22495309, PMID:22539353, PMID:22902603, PMID:23024289, PMID:23378218, PMID:23526466, PMID:23533228, PMID:23806086, PMID:23849776, PMID:23883829, PMID:23956205, PMID:24033266, PMID:24088041, PMID:24368733, PMID:24819706, PMID:24862881, PMID:25064402, PMID:25077900, PMID:25107291, PMID:25326635, PMID:25326637, PMID:25383892, PMID:25472840, PMID:25741868, PMID:25931334, PMID:25996639, PMID:26467025, PMID:26538304, PMID:26544072, PMID:26590800, PMID:26663670, PMID:26666243, PMID:26785492, PMID:26929907, PMID:26986878, PMID:27061523, PMID:27832265, PMID:27884173, PMID:28475860, PMID:28492532, PMID:28554332, PMID:28832562, PMID:28991257, PMID:29178447, PMID:29255181, PMID:29255276, PMID:29300383, PMID:29304373, PMID:29419413, PMID:30311386, PMID:30733481, PMID:30828794, PMID:31042289, PMID:24840056, PMID:22033296, PMID:18445044, PMID:20624498, PMID:16207732, PMID:18073582, PMID:23333604 RGD:11535032, RGD:11067078, RGD:11535040, RGD:11535041, RGD:11535048, RGD:11535050, RGD:11535051 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:117,129,237...117,140,234
Ensembl chr 7:117,129,237...117,140,214
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: CHARGE association
ClinVar Annotator: match by OMIM:214800
OMIM
ClinVar
PMID:15235037, PMID:25741868, PMID:25985275, PMID:26467025, PMID:28492532 NCBI chr 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: CHARGE association ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tp53 tumor protein p53 ISS OMIM:214800 MouseDO NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868, PMID:30711679 NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      CHARGE syndrome 12
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Multiple Abnormalities 1738
            CHARGE syndrome 12
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.