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Items: 1 to 20 of 33

1.

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE

MedGen UID:
934933
Concept ID:
C4310966
Disease or Syndrome
2.

Renal cell carcinoma with paraneoplastic erythrocytosis

MedGen UID:
865598
Concept ID:
C4017161
Finding
3.

RENAL CELL CARCINOMA, SOMATIC

MedGen UID:
865597
Concept ID:
C4017160
Finding
4.

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE

MedGen UID:
864723
Concept ID:
C4016286
Neoplastic Process
5.

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA

MedGen UID:
864722
Concept ID:
C4016285
Neoplastic Process
6.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
7.

HEPATOBLASTOMA, SOMATIC

MedGen UID:
864372
Concept ID:
C4015935
Finding
8.

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1

MedGen UID:
854827
Concept ID:
C3888239
Finding
9.

HIRSCHSPRUNG DISEASE, PROTECTION AGAINST

MedGen UID:
854782
Concept ID:
C3888125
Finding
10.

Mental retardation, autosomal dominant 19

MedGen UID:
767363
Concept ID:
C3554449
Disease or Syndrome
11.

Attenuated FAP

A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. [from SNOMEDCT_US]

MedGen UID:
436213
Concept ID:
C2674616
Disease or Syndrome
12.

Brain tumor-polyposis syndrome 2

MedGen UID:
435873
Concept ID:
C2673218
Disease or Syndrome
13.

Lynch syndrome I

Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GTR]

MedGen UID:
423615
Concept ID:
C2936783
Neoplastic Process
14.

Familial adenomatous polyposis 1

APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of colon cancer at a later age than in FAP. Certain extracolonic manifestations, such as gastric and duodenal polyps or cancers, are variably present in attenuated FAP; risk management may be substantially different between FAP and attenuated FAP. GAPPS is characterized by gastric fundic gland polyposis, increased risk of gastric cancer, and limited colonic involvement in most individuals reported. [from GTR]

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
15.

DESMOID TUMOR, SOMATIC

MedGen UID:
396225
Concept ID:
C1861807
Finding
16.

Thyroid carcinoma, sporadic medullary

MedGen UID:
371684
Concept ID:
C1833929
Neoplastic Process
17.

OVARIAN CANCER, SOMATIC

MedGen UID:
370036
Concept ID:
C1969537
Finding
18.

HEPATOCELLULAR CARCINOMA, SOMATIC

MedGen UID:
369491
Concept ID:
C1969388
Neoplastic Process
19.

MEDULLOBLASTOMA, SOMATIC

MedGen UID:
349371
Concept ID:
C1861812
Neoplastic Process
20.

PILOMATRICOMA, SOMATIC

MedGen UID:
349367
Concept ID:
C1861805
Finding
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