From HPO
Steatorrhea- MedGen UID:
- 20948
- •Concept ID:
- C0038238
- •
- Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Reduced tendon reflexes- MedGen UID:
- 356648
- •Concept ID:
- C1866934
- •
- Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Acanthocytosis- MedGen UID:
- 195801
- •Concept ID:
- C0687751
- •
- Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Decreased HDL cholesterol concentration- MedGen UID:
- 57731
- •Concept ID:
- C0151691
- •
- Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Hypocholesterolemia- MedGen UID:
- 57479
- •Concept ID:
- C0151718
- •
- Disease or Syndrome
An decreased concentration of cholesterol in the blood.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Decreased LDL cholesterol concentration- MedGen UID:
- 776554
- •Concept ID:
- C0853085
- •
- Finding
An decreased concentration of low-density lipoprotein cholesterol in the blood.
Decreased circulating vitamin E concentration- MedGen UID:
- 1853278
- •Concept ID:
- C5779643
- •
- Finding
A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.
Reduced circulating vitamin A concentration- MedGen UID:
- 1853267
- •Concept ID:
- C5848160
- •
- Finding
Concentration of vitamin A below the lower limit of normal in the blood circulation.
Retinal degeneration- MedGen UID:
- 48432
- •Concept ID:
- C0035304
- •
- Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the nervous system