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Metadata
ID DOID:3852
Name Peutz-Jeghers syndrome
Definition An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/10499464/, https://pubmed.ncbi.nlm.nih.gov/10874301/
Xrefs

GARD:7378

ICD10CM:Q85.89

MESH:D010580

NCI:C3324

NCI:C4733

NCI:C7755

OMIM:175200

ORDO:2869

SNOMEDCT_US_2023_03_01:157029009

SNOMEDCT_US_2023_03_01:277161008

SNOMEDCT_US_2023_03_01:53633000

UMLS_CUI:C0031269

UMLS_CUI:C0265323

UMLS_CUI:C0456487

Alternateids

DOID:4133

DOID:4134

DOID:6252

DOID:6253

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Colonic hamartomatous polyp [EXACT]

gastric Peutz-Jeghers polyp [EXACT]

Peutz Jeghers colon polyp [EXACT]

Peutz Jeghers polyp [EXACT]

Peutz-Jeghers polyp of small Intestine [EXACT]

peutz-jeghers small bowel hamartoma [EXACT]

Parent Relationships

is_a intestinal disease

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