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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:non-syndromic X-linked intellectual disability 104
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Accession:DOID:0112018 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in FRMPD4 on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: MRX104;   X-linked intellectual developmental disorder 104;   X-linked mental retardation 104;   XLID104
 primary_id: OMIM:300983
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 104 ClinVar
OMIM
PMID:25644381 PMID:25741868 PMID:26394714 PMID:29267967 NCBI chr  X:25,853,849...26,814,642
Ensembl chr  X:25,853,934...26,814,637
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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
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 104 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
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability 104 1
paths to the root