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Items: 1 to 20 of 35

1.

Methionine preparation

A sulfur-containing essential L-amino acid that is important in many body functions. [from MeSH]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Choline

A basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism. [from MeSH]

MedGen UID:
3048
Concept ID:
C0008405
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
3.

Hypermetabolism

A finding indicating an abnormal increase in the body's basal metabolic rate. [from NCI]

MedGen UID:
575316
Concept ID:
C0342952
Finding
4.

Suppression

MedGen UID:
526147
Concept ID:
C0221103
Pathologic Function
5.

Schnyder crystalline corneal dystrophy

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). [from GTR]

MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
6.

Renal carnitine transport defect

Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; Childhood myopathy involving heart and skeletal muscle with onset between age two and four years; Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; Fatigability in adulthood; Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants. [from GTR]

MedGen UID:
90999
Concept ID:
C0342788
Disease or Syndrome
7.

Fish-eye disease

Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. [from GTR]

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
8.

Sudden cardiac death

An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD) [from NCI]

MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
9.

Weight loss

A reduction in total body weight. [from NCI]

MedGen UID:
853198
Concept ID:
C1262477
Finding; Finding
10.

Multicentric plasma cell variant of Castleman disease

MedGen UID:
762089
Concept ID:
C3541461
Finding
11.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
12.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
13.

Hepatic steatosis

Inflammation of the liver related to lipid accumulation in fatty liver. [from MeSH]

MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
14.

Malformation of cortical development

A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. [from NCI]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
15.

Macular corneal dystrophy Type I

Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from GTR]

MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
16.

Multicentric Angiofollicular Lymphoid Hyperplasia

A form of angiofollicular lymphoid hyperplasia characterized by fever, generalized lymphadenopathy, hypergammaglobulinemia, and dysfunction of multiple organs. Other signs and symptoms include anemia, thrombocytopenia, hepatomegaly, peripheral neuropathy and pleural effusions. Morphologically, in the majority of cases the lymph nodes show features of angiofollicular lymphoid hyperplasia of the plasma cell type. In a minority of cases, changes of angiofollicular lymphoid hyperplasia of the hyaline-vascular type are seen. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma, or lymphoma. [from NCI]

MedGen UID:
233197
Concept ID:
C1334815
Neoplastic Process
17.

Fatty degeneration

A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. [from NCI]

MedGen UID:
57759
Concept ID:
C0152254
Pathologic Function
18.

Macular corneal dystrophy

A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate. [from NCI]

MedGen UID:
44239
Concept ID:
C0024439
Disease or Syndrome
19.

Oxidation

The process of oxidizing; the addition of oxygen to a compound accompanied by a loss of electrons. [from NCI]

MedGen UID:
18242
Concept ID:
C0030011
Molecular Function
20.

Multiple carboxylase deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. [from MeSH]

MedGen UID:
10119
Concept ID:
C0026755
Disease or Syndrome
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