GENE - TERM ANNOTATION REPORT

RGD ID: 1564611
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pnpla6
Name: patatin-like phospholipase domain containing 6
Acc ID: DOID:1930
Term: Laurence-Moon syndrome
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)
Definition Source(s): MESH:D007849
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:16057017240710OMIM  
 ISORGD:16057018554872ClinVarClinVar Annotator: match by term: Laurence-Moon syndrome

PMID:18313024, PMID:24355708, PMID:25480986, PMID:28492532, PMID:3963113, PMID:8053762
 ISORGD:16057018554872ClinVarClinVar Annotator: match by term: Laurence-Moon syndrome

PMID:25480986, PMID:3963113, PMID:8053762
 ISORGD:16057018554872ClinVarClinVar Annotator: match by term: Laurence-Moon syndrome

PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.