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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:Lesch-Nyhan syndrome
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Accession:DOID:1919 term browser browse the term
Definition:A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency;   Deficiency of Guanine Phosphoribosyltransferase;   Deficiency of Hypoxanthine Phosphoribosyltransferase;   Guanine Phosphoribosyltransferase Deficiency;   HG-PRT deficiency;   HGPRT Deficiencies;   HGPRT Deficiency;   HPRT DEFICIENCY;   HPRT1 DEFICIENCY;   Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency;   Hypoxanthine Guanine Phosphoribosyltransferase Deficiency;   Hypoxanthine Phosphoribosyl Transferase Deficiency Disease;   Hypoxanthine Phosphoribosyltransferase Deficiencies;   Hypoxanthine Phosphoribosyltransferase Deficiency;   Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases;   Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome;   Juvenile Hyperuricemia Syndrome;   Juvenile Hyperuricemia Syndromes;   LNS;   Lesch Nyhan Disease;   Primary Hyperuricemia Syndrome;   X-linked hyperuricemia;   X-linked hyperuricemias;   X-linked primary hyperuricemia;   X-linked primary hyperuricemias;   choreoathetosis self mutilation hyperuricemia syndrome;   choreoathetosis self mutilation syndrome;   choreoathetosis self-mutilation syndromes;   complete HGPRT deficiency disease;   complete HPRT deficiencies;   complete HPRT deficiency;   deficiency of IMP pyrophosphorylase;   guanine phosphoribosyltransferase deficiencies;   primary hyperuricemia syndromes;   total HPRT deficiency;   total hypoxanthine guanine phosphoribosyl transferase deficiency
 broad_synonym: HPRT1-RELATED DISORDERS
 related_synonym: HPRT CHERMSIDE;   HPRT CHICAGO;   HPRT CONNERSVILLE;   HPRT COORPAROO;   HPRT DETROIT;   HPRT EVANSVILLE;   HPRT FLINT;   HPRT Fujimi;   HPRT KINSTON;   HPRT MICHIGAN;   HPRT MIDLAND;   HPRT NEW BRITON;   HPRT NEW HAVEN;   HPRT PARIS;   HPRT TOKYO;   HPRT Yale
 xref: ICD10CM:E79.1;   MESH:D007926;   MIM:300322;   MONDO:0010298;   NCI:C61255;   ORDO:510
For additional species annotation, visit the Alliance of Genome Resources.


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Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: Lesch-Nyhan syndrome
OMIM:300322
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:deletion,insertion,duplication:cds:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... RGD:13462064, RGD:13463104 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant		 ClinVar
RGD		 PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... RGD:13463104 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      Lesch-Nyhan syndrome 2
        Lesch-Nyhan Syndrome, Neurologic Variant 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    X-Linked Intellectual Developmental Disorders 824
                      Lesch-Nyhan syndrome 2
                        Lesch-Nyhan Syndrome, Neurologic Variant 1
paths to the root