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GENE - TERM ANNOTATION REPORT

RGD ID: 620955
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lss
Name: lanosterol synthase
Acc ID: DOID:0080950
Term: alopecia-mental retardation syndrome 4
Definition: An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)
Definition Source(s): PMID:30723320 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Lss ISOLSS (Homo sapiens)7240710OMIM  
Lss ISOLSS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4PMID:17576681 PMID:25741868 PMID:28492532 PMID:30401459 PMID:30723320 PMID:33155697 PMID:35803560 PMID:9536098
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