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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   MHBD deficiency;   MRXS10;   X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome;   hydroxyacyl-CoA dehydrogenase type 2 deficiency;   syndromic X-linked mental retardation 10
 primary_id: MESH:C564560
 alt_id: OMIM:300438
 xref: ICD10CM:G25.5;   ORDO:85295
For additional species annotation, visit the Alliance of Genome Resources.



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syndromic X-linked intellectual disability type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder
OMIM
CTD
ClinVar
PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 More... NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        lipid metabolism disorder 1178
          syndromic X-linked intellectual disability type 10 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            disease of mental health 7590
              developmental disorder of mental health 4924
                specific developmental disorder 4191
                  intellectual disability 3995
                    X-Linked Intellectual Developmental Disorders 756
                      syndromic X-linked intellectual disability 615
                        syndromic X-linked intellectual disability type 10 1
paths to the root