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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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency;   Deficiency of Guanine Phosphoribosyltransferase;   Deficiency of Hypoxanthine Phosphoribosyltransferase;   Guanine Phosphoribosyltransferase Deficiencies;   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;   Primary Hyperuricemia Syndromes;   Total HPRT Deficiencies;   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;   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
 primary_id: MESH:D007926
 alt_id: OMIM:300322
 xref: ICD10CM:E79.1;   NCI:C61255
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
IAGP		 ClinVar Annotator: match by term: Lesch-Nyhan syndrome
CTD Direct Evidence: marker/mechanism
OMIM:300322
DNA:mutations:multiple:
DNA:deletion,insertion,duplication:cds:		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... RGD:13462064, RGD:13463104 NCBI chr  X:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		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:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    syndrome 10342
      Lesch-Nyhan syndrome 2
        Lesch-Nyhan Syndrome, Neurologic Variant 1
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      nervous system disease 13506
        central nervous system disease 12088
          brain disease 11347
            disease of mental health 8203
              developmental disorder of mental health 5589
                specific developmental disorder 4536
                  intellectual disability 4336
                    X-Linked Intellectual Developmental Disorders 813
                      Lesch-Nyhan syndrome 2
                        Lesch-Nyhan Syndrome, Neurologic Variant 1
paths to the root