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Generalized juvenile polyposis/juvenile polyposis coli

MedGen UID:
356898
Concept ID:
C1868081
Disease or Syndrome
Synonym: Juvenile polyposis coli
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008276
OMIM®: 174900
Orphanet: ORPHA329971

Authors:

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Professional guidelines

PubMed

Grosfeld JL, West KW
Arch Surg 1986 May;121(5):530-4. doi: 10.1001/archsurg.1986.01400050040005. PMID: 3707330

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