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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;   IGBP1-RELATED CONDITION;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 28;   MRXS28;   agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia;   agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia
 primary_id: MESH:C564509
 alt_id: OMIM:300472
 xref: ORDO:52055


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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 (CD79A) binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:99,537,897...99,559,731
Ensembl chr  X:99,537,897...99,559,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Anatomical Pathological Conditions 2586
        Agenesis of Corpus Callosum 372
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  intellectual disability 4335
                    syndromic intellectual disability 767
                      syndromic X-linked intellectual disability 628
                        corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
paths to the root