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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:syndromic X-linked intellectual disability Claes-Jensen type
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Accession:DOID:0060809 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: MRXSCJ;   MRXSJ;   syndromic X-linked intellectual developmental disorder, Claes-Jensen type;   syndromic X-linked intellectual disability due to JARID1C mutation;   syndromic X-linked mental retardation JARID1C-related;   syndromic X-linked mental retardation, Claes-Jensen type
 primary_id: MESH:C564494
 alt_id: OMIM:300534
 xref: ORDO:85279
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by OMIM:300534
DNA:snp:cds:c.2T>C (human)
ClinVar Annotator: match by term: Mental retardation, syndromic, Claes-Jensen type, X-linked
OMIM
ClinVar
PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:18203167 More... RGD:9587779 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          Mental Retardation, X-Linked 719
            syndromic X-linked intellectual disability 591
              syndromic X-linked intellectual disability Claes-Jensen type 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        syndromic X-linked intellectual disability 591
                          syndromic X-linked intellectual disability Claes-Jensen type 1
paths to the root