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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:An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Synonyms:exact_synonym: Choreoathetosis Self-Mutilation Syndromes;   Complete HGPRT Deficiency Disease;   Complete HPRT Deficiencies;   Complete HPRT Deficiency;   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;   Total HPRT Deficiency;   Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency;   X Linked Hyperuricemia;   X-Linked Hyperuricemias;   X-linked primary hyperuricemia;   X-linked primary hyperuricemias;   choreoathetosis self mutilation hyperuricemia syndrome;   choreoathetosis self mutilation syndrome;   deficiency of IMP pyrophosphorylase
 narrow_synonym: HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT;   Lesch-Nyhan Syndrome, Neurologic Variant
 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;   RDO:0005982
 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 ClinVar Annotator: match by term: Hypoxanthine guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: Lesch-Nyhan syndrome
ClinVar Annotator: match by term: HPRT PARIS
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:
ClinVar Annotator: match by term: HPRT EVANSVILLE
ClinVar Annotator: match by term: HPRT NEW BRITON
ClinVar Annotator: match by term: HPRT FLINT
ClinVar Annotator: match by term: HPRT CONNERSVILLE
ClinVar Annotator: match by term: HPRT MIDLAND
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300322
OMIM
ClinVar
PMID:1301916, PMID:1434518, PMID:1618489, PMID:1639405, PMID:1840549, PMID:1934271, PMID:1937471, PMID:2071157, PMID:2323782, PMID:2347587, PMID:2397545, PMID:2738157, PMID:2760209, PMID:2910902, PMID:2928313, PMID:3198771, PMID:3384338, PMID:3909940, PMID:3944251, PMID:6087154, PMID:6853716, PMID:8664901, PMID:9288634, PMID:9799086, PMID:10737990, PMID:10767182, PMID:11018746, PMID:11668636, PMID:15386453, PMID:15505382, PMID:15571220, PMID:16549399, PMID:17027311, PMID:17454734, PMID:19016344, PMID:20981450, PMID:22132984, PMID:22157001, PMID:22999896, PMID:23975452, PMID:25136576, PMID:25481104, PMID:25741868, PMID:28045594, PMID:28492532, PMID:28708303, PMID:30311386, PMID:24940672, PMID:20638392 RGD:13463104, RGD:13462064 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 ClinVar Annotator: match by null
DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
ClinVar PMID:1301916, PMID:2358296, PMID:10737990, PMID:17454734, PMID:20981450, PMID:22157001, PMID:22999896, PMID:25481104, PMID:28492532, PMID:24940672 RGD:13463104 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Lesch-Nyhan syndrome 2
        Lesch-Nyhan Syndrome, Neurologic Variant 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        Lesch-Nyhan syndrome 2
                          Lesch-Nyhan Syndrome, Neurologic Variant 1
paths to the root

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