ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability Cabezas type
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Accession:DOID:0060822 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: Cabezas X-Linked Mental Retardation Syndrome;   Cabezas syndrome;   Cabezas syndrome; syndromic X-linked mental retardation 15;   MRSS;   MRXS15;   MRXSC;   Mental Retardation, X-Linked, with Brachydactyly and Macroglossia;   X-linked mental retardation with short stature;   X-linked mental retardation with short stature, hypogonadism, and abnormal gait;   X-linked mental retardation with short stature, small testes, muscle wasting, and tremor;   mental retardation, X-linked, syndromic 15;   mental retardation, X-linked, syndromic 15 (Cabezas type);   syndromic X-linked mental retardation 15
 primary_id: MESH:C567069
 alt_id: MESH:C564527;   OMIM:300354;   RDO:0008580;   RDO:0013464;   RDO:0015247
 xref: GARD:13244;   ORDO:85293
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syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:7240710
RGD:8554872

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  disease 14926
    Pathological Conditions, Signs and Symptoms 7745
      Pathologic Processes 4926
        Growth Disorders 244
          syndromic X-linked intellectual disability Cabezas type 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    syndromic intellectual disability 665
                      Mental Retardation, X-Linked 651
                        syndromic X-linked intellectual disability 582
                          syndromic X-linked intellectual disability Cabezas 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.