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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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by OMIM:300749
ClinVar Annotator: match by term: Mental retardation and microcephaly with pontine and cerebellar hypoplasia
OMIM
ClinVar
PMID:18414213 PMID:19165920 PMID:19377476 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23165780 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27799067 PMID:28132688 PMID:28492532 PMID:28783747 PMID:29691940 PMID:31474318 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital nervous system abnormality 978
        microcephaly 873
          syndromic X-linked intellectual disability Najm type 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    syndromic intellectual disability 752
                      Mental Retardation, X-Linked 717
                        syndromic X-linked intellectual disability 588
                          syndromic X-linked intellectual disability Najm type 1
paths to the root