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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:Laurence-Moon syndrome
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Accession:DOID:1930 term browser browse the term
Definition:An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Synonyms:exact_synonym: LNMS
 related_synonym: Laurence Moon Biedl syndrome
 primary_id: MESH:D007849
 alt_id: OMIM:245800
 xref: GARD:12635;   NCI:C34760;   ORDO:2377
For additional species annotation, visit the Alliance of Genome Resources.



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Laurence-Moon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Laurence-Moon syndrome OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Laurence-Moon syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                Laurence-Moon syndrome 1
paths to the root