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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:X-linked intellectual disability-short stature-overweight syndrome
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Accession:DOID:0112056 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25. (DO)
Synonyms:exact_synonym: MRX12;   MRX35;   X-linked intellectual developmental disorder 12;   X-linked mental retardation 12;   X-linked mental retardation 35;   XLID12
 primary_id: OMIM:300957
 xref: ORDO:457240
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked intellectual disability-short stature-overweight syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Mental retardation, X-linked 12 ClinVar PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Thoc2 THO complex 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 12 ClinVar
OMIM
PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513
JBrowse link

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
            syndromic X-linked intellectual disability 591
              X-linked intellectual disability-short stature-overweight syndrome 2
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
                        syndromic X-linked intellectual disability 591
                          X-linked intellectual disability-short stature-overweight syndrome 2
paths to the root