From HPO
Atherosclerosis- MedGen UID:
- 13948
- •Concept ID:
- C0004153
- •
- Disease or Syndrome
A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
Coronary artery atherosclerosis- MedGen UID:
- 3623
- •Concept ID:
- C0010054
- •
- Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Myocardial infarction- MedGen UID:
- 10150
- •Concept ID:
- C0027051
- •
- Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Peripheral demyelination- MedGen UID:
- 451074
- •Concept ID:
- C0878575
- •
- Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Peripheral axonal neuropathy- MedGen UID:
- 266071
- •Concept ID:
- C1263857
- •
- Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Impaired pain sensation- MedGen UID:
- 373348
- •Concept ID:
- C1837522
- •
- Finding
Reduced ability to perceive painful stimuli.
Impaired temperature sensation- MedGen UID:
- 866867
- •Concept ID:
- C4021222
- •
- Finding
A reduced ability to discriminate between different temperatures.
Facial diplegia- MedGen UID:
- 322796
- •Concept ID:
- C1836003
- •
- Finding
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Decreased HDL cholesterol concentration- MedGen UID:
- 57731
- •Concept ID:
- C0151691
- •
- Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Decreased circulating apolipoprotein A-I concentration- MedGen UID:
- 1634454
- •Concept ID:
- C4703545
- •
- Finding
Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.
Elevated circulating apolipoprotein A-II concentration- MedGen UID:
- 1638249
- •Concept ID:
- C4703546
- •
- Finding
An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.
Ectropion- MedGen UID:
- 4448
- •Concept ID:
- C0013592
- •
- Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Cicatricial ectropion- MedGen UID:
- 102327
- •Concept ID:
- C0155196
- •
- Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system