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Items: 11

1.

Cachexia

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. [from HPO]

MedGen UID:
2773
Concept ID:
C0006625
Sign or Symptom
2.

Atrophy

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

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
3.

Myostatin-related muscle hypertrophy

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal. [from MedlinePlus Genetics]

MedGen UID:
418994
Concept ID:
C2931112
Congenital Abnormality
4.

Skeletal muscle hypertrophy

Abnormal increase in muscle size and mass not due to training. [from HPO]

MedGen UID:
853739
Concept ID:
C2265792
Finding; Organ or Tissue Function
5.

Muscular atrophy

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

MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
6.

Neuromuscular disease

A group of disorders that affect the neuromuscular system. They may be acquired or inherited and tend to be progressive, resulting in debilitating muscle weakness. [from NCI]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
7.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
8.

Musculoskeletal system disorder

A non-neoplastic or neoplastic disorder that affects muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
9.

Inverse Klippel-Trenaunay syndrome

A rare vascular anomaly with the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. [from SNOMEDCT_US]

MedGen UID:
1830088
Concept ID:
C5679859
Disease or Syndrome
10.

Type 1 muscle fiber atrophy

Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [from HPO]

MedGen UID:
868775
Concept ID:
C4023180
Disease or Syndrome
11.

Tibialis anterior muscle atrophy

Wasting of the tibialis anterior muscle. [from HPO]

MedGen UID:
868961
Concept ID:
C4023375
Finding
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