Link to this page
Medical Subject Headings
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/MESH/D005736
http://purl.bioontology.org/ontology/MESH/D005736
|
|---|---|
| Preferred Name | Gardner Syndrome |
| Definitions |
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
|
| Synonyms |
Syndromes, Gardner's
Gardner's Syndromes
Gardner Syndromes
Gardners Syndrome
Gardner's Syndrome
Syndrome, Gardner
Syndrome, Gardner's
Syndromes, Gardner
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. |
|---|---|
| altLabel |
Syndromes, Gardner's
Gardner's Syndromes
Gardner Syndromes
Gardners Syndrome
Gardner's Syndrome
Syndrome, Gardner
Syndrome, Gardner's
Syndromes, Gardner
See more
See less
|
| prefLabel |
Gardner Syndrome
|
| TH |
OMIM (2013)
NLM (1981)
NLM (2010)
ORD (2010)
|
| notation |
D005736
|
| DX |
19810101
|
| Machine permutation |
1981
|
| MN |
C04.700.100.392
C06.405.469.491.307.090.500
C16.131.077.393
C04.557.470.035.215.100.500
C06.405.469.578.249.393
C06.405.469.158.356.090.500
C06.405.249.411.307.090.500
C16.320.700.100.393
C04.588.274.476.411.307.089.393
C06.301.371.411.307.090.500
See more
See less
|
| FX |
D025601
D017491
D011125
|
| MMR |
20150601
|
| Mapped from | |
| AQL |
BL BS CF CH CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SU TH UL UR VE VI
|
| HN |
1981
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
19800404
|
| Inverse of RO | |
| type | |
| tui |
T047
|
| cui |
C0017097
|
| Inverse of AQ |
See more
See less
|
| TERMUI |
T750951
T017318
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |