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Items: 1 to 20 of 36

1.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI_NCI-GLOSS]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
2.

Basal ganglia calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia. [from HPO]

MedGen UID:
234651
Concept ID:
C1389280
Finding; Pathologic Function
3.

Idiopathic basal ganglia calcification 1

Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with gradually progressive neuropsychiatric and movement disorders. The main manifestations include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Migraine is frequent and seizures of various types may also occur. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. [from GeneReviews]

MedGen UID:
97952
Concept ID:
C0393590
Disease or Syndrome
4.

Calcinosis

Structure with calcium deposition [from SNOMEDCT_US]

MedGen UID:
709
Concept ID:
C0006663
Finding; Pathologic Function
5.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
6.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
7.

Decreasing

MedGen UID:
617794
Concept ID:
C0442797
Finding
8.

Not detected

The presence of the specified component / analyte, organism or clinical sign could not be determined within the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617736
Concept ID:
C0442737
Finding
9.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
10.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
11.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
12.

Base Pairing

Interacting selectively and non-covalently with nucleic acid via hydrogen bonds between the bases of a gene product molecule and the bases of a target nucleic acid molecule. [GOC:krc] [from GO]

MedGen UID:
108706
Concept ID:
C0600436
Molecular Function
13.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
14.

polyacrylamide gels

An electrophoresis gel composed of polyacrylamide in an aqueous buffer. [from NCI]

MedGen UID:
74728
Concept ID:
C0071500
Biomedical or Dental Material; Pharmacologic Substance
15.

Bilateral

Being present on both sides of the body. [from HPO]

MedGen UID:
65977
Concept ID:
C0238767
Spatial Concept
16.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. (NCI) [from NCI_CDISC]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
17.

Microcalcification

MedGen UID:
636470
Concept ID:
C0521174
Pathologic Function
18.

Tumoral calcinosis

An extremely rare benign condition characterized by large calcified periarticular soft tissue masses composed of calcium salts, usually located around large joints. Tumoral calcinosis can occur due to HYPERPHOSPHATEMIA in patients with UREMIA and/or who are undergoing RENAL DIALYSIS. [from MeSH]

MedGen UID:
452340
Concept ID:
C0263628
Disease or Syndrome
19.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
20.

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
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