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Items: 13

1.

Rhabdomyoma

A benign tumor of striated muscle. [from HPO]

MedGen UID:
48445
Concept ID:
C0035411
Neoplastic Process
2.

Rhabdomyosarcoma

A malignant mesenchymal neoplasm arising from skeletal muscle. [from NCI]

MedGen UID:
20561
Concept ID:
C0035412
Neoplastic Process
3.

Rhabdomyosarcoma

MedGen UID:
505375
Concept ID:
CN002584
Finding
4.

Meningioma

tumor of the membranes that cover and protect the brain and spinal cord [from CHV]

MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
5.

Medulloblastoma

Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). [from OMIM]

MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
6.

Embryonal rhabdomyosarcoma

MedGen UID:
505967
Concept ID:
CN005870
Finding
7.

Medulloblastoma

A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. [from HPO]

MedGen UID:
505388
Concept ID:
CN002609
Finding
8.

Meningioma

The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. [from HPO]

MedGen UID:
505374
Concept ID:
CN002583
Finding
9.

Basal cell carcinoma

The presence of a basal cell carcinoma of the skin. [from HPO]

MedGen UID:
505327
Concept ID:
CN002427
Finding
10.

Gorlin syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average. [from GeneReviews]

MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
11.

Sarcoma

Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
12.

Disorder of salivary gland

Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs. . Problems with salivary glands can cause the glands to become irritated and swollen. This causes symptoms such as . - Bad taste in the mouth. - Difficulty opening your mouth . - Dry mouth. - Pain in the face or mouth. - Swelling of the face or neck. Causes of salivary gland problems include infections, obstruction or cancer. Problems can also be due to other disorders, such as mumps or Sjogren's syndrome. .  [from MedlinePlus]

MedGen UID:
48537
Concept ID:
C0036093
Disease or Syndrome
13.

Basal cell carcinoma, sporadic

MedGen UID:
432997
Concept ID:
CN069115
Disease or Syndrome
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