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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:syndromic X-linked intellectual disability Siderius type
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Accession:DOID:0060812 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE;   MRXSSD;   Siderius Hamel syndrome;   Siderius X-linked mental retardation syndrome;   X-linked mental retardation syndrome, Siderius type
 primary_id: MESH:C537333
 alt_id: OMIM:300263;   RDO:0003154
 xref: ORDO:85287
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by OMIM:300263
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Siderius X-linked mental retardation syndrome
OMIM
ClinVar
PMID:10398231, PMID:16199551, PMID:17594395, PMID:17661819, PMID:25741868, PMID:28492532 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      syndromic X-linked intellectual disability Siderius type 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        syndromic X-linked intellectual disability 584
                          syndromic X-linked intellectual disability Siderius type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.