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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: IL1RAPL1-RELATED CONDITION;   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 disorder
 primary_id: MESH:C563148
 alt_id: OMIM:300143
 xref: NCI:C179707


show annotations for term's descendants           Sort by:
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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:51,371,969...52,876,726
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 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          X-Linked Intellectual Developmental Disorders 806
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 21 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    X-Linked Intellectual Developmental Disorders 806
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 21 1
paths to the root