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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:CHIME syndrome
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Accession:DOID:0112152 term browser browse the term
Definition:A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2. (DO)
Synonyms:exact_synonym: CHIME;   Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome;   GPIBD5;   PIGL-CDG;   Zunich neuroectodermal syndrome;   Zunich-Kaye syndrome;   coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome;   coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome;   congenital disorder of glycosylation due to PIGL deficiency;   glycosylphosphatidylinositol biosynthesis defect 5;   neuroectodermal dysplasia, CHIME type;   neuroectodermal syndrome, Zunich type
 primary_id: MESH:C536729
 alt_id: OMIM:280000
 xref: GARD:310;   ORDO:3474
For additional species annotation, visit the Alliance of Genome Resources.



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CHIME syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by OMIM:280000
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by term: CHIME syndrome
OMIM
ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      CHIME syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Conductive Hearing Loss 10
                    CHIME syndrome 1
paths to the root