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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;   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
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 ClinVar Annotator: match by OMIM:300438
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 2-methyl-3-hydroxybutyric aciduria
ClinVar Annotator: match by term: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
OMIM
ClinVar
CTD
PMID:10521307, PMID:11102558, PMID:12112118, PMID:12555940, PMID:12696021, PMID:12872843, PMID:16148061, PMID:16176262, PMID:17236142, PMID:17618155, PMID:18996107, PMID:20077426, PMID:22132097, PMID:23266819, PMID:24549042, PMID:25526675, PMID:25741868, PMID:26950678, PMID:28492532 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          syndromic X-linked intellectual disability type 10 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          syndromic X-linked intellectual disability type 10 1
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