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MSH3-related attenuated familial adenomatous polyposis

MedGen UID:
978356
•Concept ID:
CN294170
•
Disease or Syndrome
Synonyms: MSH3-related AFAP; MSH3-related attenuated familial polyposis coli; MSH3-related attenuated FAP
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA480536

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMSH3-related attenuated familial adenomatous polyposis

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