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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:138
For additional species annotation, visit the Alliance of Genome Resources.


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CHARGE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068442
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:13592920
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:7240710
RGD:8554872
RGD:11535032
RGD:11067078
RGD:11535040
RGD:11535041
RGD:11535048
RGD:11535050
RGD:11535051
RGD:11554173
G Sema3e semaphorin 3E JBrowse link 4 17,314,745 17,594,659 RGD:7240710
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:13592920
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      CHARGE syndrome 6
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            CHARGE syndrome 6
paths to the root