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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability type 10
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Accession:DOID:0060810 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency;   17beta-hydroxysteroid dehydrogenase type 10 deficiency;   2-Methyl-3-Hydroxybutyric Aciduria;   2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency;   3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency;   3-Hydroxyacyl-CoA Dehydrogenase II Deficiency;   3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency;   CAMR;   Chorioathetosis With Mental Retardation And Abnormal Behavior;   HSD10 MITOCHONDRIAL DISEASE;   HSD10 deficiency, atypical type;   HSD10 disease, atypical type;   HSD10MD;   HSD17B10 Deficiency;   HSD17B10-RELATED DISORDER;   Hydroxyacyl-CoA Dehydrogenase II Deficiency;   Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 10;   MHBD deficiency;   MRXS10;   X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
 primary_id: MESH:C536080;   MESH:C564560
 alt_id: OMIM:300438;   RDO:0001506;   RDO:0013482
 xref: ICD10CM:G25.5;   ORDO:85295
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syndromic X-linked intellectual disability type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 JBrowse link X 21,696,796 21,699,241 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          syndromic X-linked intellectual disability type 10 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        syndromic X-linked intellectual disability 584
                          syndromic X-linked intellectual disability type 10 1
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