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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability Najm type
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Accession:DOID:0060807 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: MICPCH;   MICPCH syndrome;   MRXSNA;   Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia;   X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome;   syndromic X-linked mental retardation, Najm type
 broad_synonym: CASK-RELATED DISORDER
 primary_id: MESH:C567466
 alt_id: OMIM:300749;   RDO:0015529
 xref: GARD:12669;   ORDO:163937
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          syndromic X-linked intellectual disability Najm type 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          syndromic X-linked intellectual disability Najm type 1
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