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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 21
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Accession:DOID:0112022 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. (DO)
Synonyms:exact_synonym: MRX21;   MRX34;   X-linked intellectual developmental disorder 21;   X-linked mental retardation 21;   X-linked mental retardation 21/34;   X-linked mental retardation 34;   XLID21
 broad_synonym: IL1RAPL1-related condition;   IL1RAPL1-related disorder
 xref: MESH:C563148;   MIM:300143;   MONDO:0010256;   NCI:C179707


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non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: IL1RAPL1-related condition | ClinVar Annotator: match by term: IL1RAPL1-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 52
              non-syndromic X-linked intellectual disability 21 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 52
                        non-syndromic X-linked intellectual disability 21 1
paths to the root