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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability Turner type
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Accession:DOID:0060811 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: BROOKS-WISNIEWSKI-BROWN SYNDROME;   JMS;   Juberg-Marsidi Mental Retardation Syndrome;   Juberg-Marsidi syndrome;   MRXS-Turner;   MRXSBWB;   MRXST;   Mental Retardation and Macrocephaly Syndrome;   X-linked intellectual disability, Brooks type;   X-linked mental retardation with growth delay, deafness, microgenitalism;   X-linked mental retardation with growth retardation, deafness, and microgenitalism;   syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type;   syndromic X-linked mental retardation, Turner type
 primary_id: MESH:C563154;   MESH:C567476
 alt_id: DOID:0060829;   OMIM:300612;   OMIM:309590;   RDO:0012533;   RDO:0015539
 xref: ORDO:3056;   ORDO:85328
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syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      syndromic X-linked intellectual disability Turner type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          syndromic X-linked intellectual disability Turner type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.