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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 the PIGL gene on chromosome 17p11.2. (DO)
Synonyms:exact_synonym: CHIME;   GPIBD5;   PIGL-CDG;   Zunich neuroectodermal syndrome;   Zunich-Kaye syndrome;   coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome;   coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome;   coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies 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


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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 DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... RGD:243048422 NCBI chr11:62,349,267...62,406,863
Ensembl chr11:62,349,286...62,405,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      congenital heart disease 1352
        CHIME syndrome 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    Conductive Hearing Loss 10
                      CHIME syndrome 1
paths to the root