ONTOLOGY REPORT - ANNOTATIONS


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 14823
    syndrome 4218
      syndromic X-linked intellectual disability Siderius type 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    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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