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GENE - TERM ANNOTATION REPORT

RGD ID: 12430631
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: LMBRD1
Name: LMBR1 domain containing 1
Acc ID: DOID:0090144
Term: Donnai-Barrow syndrome
Definition: A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome "DO" "DO", https://www.omim.org/entry/222448 "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)
LMBRD1 ISOLMBRD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Donnai-Barrow syndromePMID:19136951 PMID:25741868 PMID:28492532
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