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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: MRXSSD;   PHF8-RELATED CONDITION;   Siderius Hamel syndrome;   Siderius X-linked mental retardation syndrome;   X-linked mental retardation syndrome, Siderius type;   syndromic X-linked intellectual developmental disorder, Siderius type;   syndromic X-linked mental retardation, Siderius type
 primary_id: MESH:C537333
 alt_id: MIM:300263
 xref: ORDO:85287


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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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:300263
ClinVar Annotator: match by term: PHF8-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type 		OMIM
CTD
MouseDO
ClinVar		 PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 More... NCBI chr  X:23,967,126...24,066,473
Ensembl chr  X:23,967,556...24,066,471 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      syndromic X-linked intellectual disability Siderius type 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        central nervous system disease 12649
          brain disease 0
            disease of mental health 8487
              developmental disorder of mental health 5666
                specific developmental disorder 4642
                  intellectual disability 4408
                    X-Linked Intellectual Developmental Disorders 828
                      syndromic X-linked intellectual disability 619
                        syndromic X-linked intellectual disability Siderius type 1
paths to the root