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ONTOLOGY REPORT - ANNOTATIONS


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;   Laurence Moon Biedl Syndrome
 primary_id: MESH:D007849
 alt_id: OMIM:245800;   RDO:0005964
 xref: GARD:12635
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Laurence-Moon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710

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  disease 14759
    syndrome 4210
      Laurence-Moon syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                Laurence-Moon syndrome 1
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