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Items: 9

1.

Giant cell tumor of bone

A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. [from HPO]

MedGen UID:
64624
Concept ID:
C0206638
Neoplastic Process
2.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
3.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
4.

Very rare

MedGen UID:
344528
Concept ID:
C1855575
Finding
5.

Glutaric aciduria, type 2

Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). [from OMIM]

MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
6.

Salivary gland neoplasm

A benign or malignant neoplasm that affects the major or minor salivary glands. Representative examples of benign neoplasms include Warthin tumor, monomorphic adenoma, and pleomorphic adenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. [from NCI]

MedGen UID:
20641
Concept ID:
C0036095
Neoplastic Process
7.

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
8.

Mouth neoplasm

A tumor (abnormal growth of tissue) of the mouth. [from HPO]

MedGen UID:
7722
Concept ID:
C0026640
Neoplastic Process
9.

Head and Neck Neoplasms

A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. [from HPO]

MedGen UID:
6728
Concept ID:
C0018671
Neoplastic Process
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