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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
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syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf8 PHD finger protein 8 JBrowse link X 21,063,487 21,168,750 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      syndromic X-linked intellectual disability Siderius type 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          syndromic X-linked intellectual disability Siderius type 1
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