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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:corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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Accession:DOID:0060816 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: Graham-Cox syndrome;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 28;   MRXS28;   corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
 primary_id: MESH:C564509;   RDO:0013451
 alt_id: OMIM:300472
 xref: ORDO:52055
For additional species annotation, visit the Alliance of Genome Resources.


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corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by OMIM:300472 OMIM
ClinVar
PMID:14556245 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Anatomical Pathological Conditions 1536
        Agenesis of Corpus Callosum 145
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
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.