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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:Chudley-Mccullough syndrome
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Accession:DOID:9000177 term browser browse the term
Synonyms:exact_synonym: CMCS;   DEAFNESS, AUTOSOMAL RECESSIVE 82;   DFNB82;   Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction;   Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts;   GPSM2-RELATED DISORDERS
 primary_id: MESH:C535459;   RDO:0000582
 alt_id: OMIM:604213
For additional species annotation, visit the Alliance of Genome Resources.


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Chudley-Mccullough syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by OMIM:604213
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: GPSM2-Related Disorders
OMIM
ClinVar
CTD
PMID:10449658, PMID:20602914, PMID:21348867, PMID:22578326, PMID:22987632, PMID:23208854, PMID:23494849, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532, PMID:22578326 RGD:11062393 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Chudley-Mccullough syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Chudley-Mccullough syndrome 2
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.