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Items: 1 to 20 of 27

1.

Cranioosteoarthropathy

A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
2.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
3.

Deficiency of butyryl-CoA dehydrogenase

The clinical findings in those with confirmed short-chain acyl-CoA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question. [from GTR]

MedGen UID:
90998
Concept ID:
C0342783
Disease or Syndrome
4.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
5.

Prolonged

Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). [from HPO]

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
6.

Prolonged periods

MedGen UID:
604469
Concept ID:
C0425945
Finding
7.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
8.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
9.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
10.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
11.

Biosynthesis, Peptide

The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules. [from MeSH]

MedGen UID:
272130
Concept ID:
C1327133
Molecular Function
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Macrolide

A group of often glycosylated macrocyclic compounds formed by chain extension of multiple PROPIONATES cyclized into a large (typically 12, 14, or 16)-membered lactone. Macrolides belong to the POLYKETIDES class of natural products, and many members exhibit ANTIBIOTIC properties. [from MeSH]

MedGen UID:
129193
Concept ID:
C0282563
Organic Chemical; Pharmacologic Substance
14.

Genetic translation

Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form. [from NCI]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
15.

Protein Folding

The change in structure whereby a polypeptide assumes its functional shape or conformation. This is a process that occurs during either protein biosynthesis or protein reconstitution. Polypeptide chains assume their correct three-dimensional conformation through discrete intermediate (primary, secondary, and tertiary) structures prior to the development final quaternary structure. [from NCI]

MedGen UID:
58195
Concept ID:
C0162847
Molecular Function
16.

Disorder of lipid metabolism

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
17.

Octoxynol 9

MedGen UID:
54004
Concept ID:
C0133689
Organic Chemical; Pharmacologic Substance
18.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
19.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
20.

Tensides

MedGen UID:
23265
Concept ID:
C0076097
Biomedical or Dental Material; Pharmacologic Substance
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