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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.


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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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISS OMIM:214800 MouseDO NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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:7651832 PMID:9536098 PMID:10590394 PMID:14626219 PMID:15300250 More... RGD:11535032, RGD:11067078, RGD:11535040, RGD:11535041, RGD:11535048, RGD:11535050, RGD:11535051 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:29300383 NCBI chr 7:107,782,770...107,793,814
Ensembl chr 7:107,782,770...107,794,531
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: CHARGE association
ClinVar Annotator: match by OMIM:214800
OMIM
ClinVar
PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: CHARGE association ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tp53 tumor protein p53 ISS OMIM:214800 MouseDO NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: CHARGE association ClinVar PMID:25741868 PMID:30711679 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      CHARGE syndrome 11
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Multiple Abnormalities 2434
            CHARGE syndrome 11
paths to the root