From HPO
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Abdominal obesity- MedGen UID:
- 90229
- •Concept ID:
- C0311277
- •
- Finding
Excessive fat around the stomach and abdomen.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Lipodystrophy- MedGen UID:
- 6111
- •Concept ID:
- C0023787
- •
- Disease or Syndrome
Degenerative changes of the fat tissue.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscular dystrophy- MedGen UID:
- 44527
- •Concept ID:
- C0026850
- •
- Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Difficulty climbing stairs- MedGen UID:
- 68676
- •Concept ID:
- C0239067
- •
- Finding
Reduced ability to climb stairs.
Skeletal muscle atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hyperlipidemia- MedGen UID:
- 5692
- •Concept ID:
- C0020473
- •
- Disease or Syndrome
An elevated lipid concentration in the blood.
Insulin resistance- MedGen UID:
- 43904
- •Concept ID:
- C0021655
- •
- Pathologic Function
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Abnormal circulating lipid concentration- MedGen UID:
- 892402
- •Concept ID:
- C4025650
- •
- Finding
Any deviation from the normal concentration of a lipid in the blood circulation.
Acanthosis nigricans- MedGen UID:
- 54
- •Concept ID:
- C0000889
- •
- Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Hypopigmentation of the skin- MedGen UID:
- 102477
- •Concept ID:
- C0162835
- •
- Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality