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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 98
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Accession:DOID:0112044 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. (DO)
Synonyms:exact_synonym: MRX98;   NEXMIF-RELATED CONDITION;   X-linked intellectual developmental disorder 98;   X-linked mental retardation 98;   XLID98
 primary_id: MIM:300912


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non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexmif neurite extension and migration factor ISO
ISS		 OMIM:300912
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition		 OMIM
MouseDO
ClinVar		 PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 More... NCBI chr  X:73,153,786...73,284,943 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        intellectual disability 4381
          X-Linked Intellectual Developmental Disorders 824
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 98 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    X-Linked Intellectual Developmental Disorders 824
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 98 1
paths to the root