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Items: 1 to 20 of 60

1.

Peripheral neuropathy

A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. [from NCI]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
2.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from GTR]

MedGen UID:
2980
Concept ID:
C0007959
Disease or Syndrome
3.

sural

MedGen UID:
122763
Concept ID:
C0626053
Pharmacologic Substance
4.

Atrophy

Any weakening or degeneration, especially through lack of use. [from NCI]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
5.

Lipodystrophy

A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy. [from MeSH]

MedGen UID:
6111
Concept ID:
C0023787
Disease or Syndrome
6.

Skeletal muscle atrophy

The presence of skeletal muscular atrophy (which is also known as amyotrophy). [from HPO]

MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
7.

Autosomal dominant Charcot-Marie-Tooth disease type 2

MedGen UID:
830983
Concept ID:
CN205435
Disease or Syndrome
8.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
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.

Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease. [from NCI_NCI-GLOSS]

MedGen UID:
457660
Concept ID:
C2985434
Cell or Molecular Dysfunction
11.

Thenar muscle atrophy

MedGen UID:
355274
Concept ID:
C1864715
Finding
12.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
13.

Abnormal pyramidal signs

Functional neurological abnormalities related to dysfunction of the pyramidal tract. [from HPO]

MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
14.

Fiber

An elongated, tapering, generally thick-walled sclerenchyma cell of vascular plants; its walls may or may not be lignified. [from NCI_FDA]

MedGen UID:
68338
Concept ID:
C0225326
Organic Chemical; Pharmacologic Substance
15.

Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality. [from GTR]

MedGen UID:
67438
Concept ID:
C0221032
Disease or Syndrome; Finding
16.

Muscle atrophy

Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [from MeSH]

MedGen UID:
7754
Concept ID:
C0026846
Pathologic Function
17.

Lipoatrophic diabetes

A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. [from NCI]

MedGen UID:
4256
Concept ID:
C0011859
Disease or Syndrome
18.

PMS-Tryptophan

MedGen UID:
327774
Concept ID:
C1564485
Amino Acid, Peptide, or Protein; Pharmacologic Substance
19.

Ardeydorm

MedGen UID:
296070
Concept ID:
C1564481
Amino Acid, Peptide, or Protein; Pharmacologic Substance
20.

Lyphan

MedGen UID:
289838
Concept ID:
C1564484
Amino Acid, Peptide, or Protein; Pharmacologic Substance
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