From HPO
Clubbing- MedGen UID:
- 57692
- •Concept ID:
- C0149651
- •
- Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Portal hypertension- MedGen UID:
- 9375
- •Concept ID:
- C0020541
- •
- Disease or Syndrome
Increased pressure in the portal vein.
Cholecystitis- MedGen UID:
- 920
- •Concept ID:
- C0008325
- •
- Disease or Syndrome
The presence of inflammatory changes in the gallbladder.
Esophageal varix- MedGen UID:
- 5027
- •Concept ID:
- C0014867
- •
- Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Gastric varix- MedGen UID:
- 8965
- •Concept ID:
- C0017145
- •
- Disease or Syndrome
Extreme dilation of the submucusoal veins in the stomach.
Liver failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Nodular regenerative hyperplasia of liver- MedGen UID:
- 488965
- •Concept ID:
- C1318485
- •
- Disease or Syndrome
Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Increased mean corpuscular volume- MedGen UID:
- 81303
- •Concept ID:
- C0302845
- •
- Finding
Larger than normal size of erythrocytes.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Pulmonary fibrosis- MedGen UID:
- 11028
- •Concept ID:
- C0034069
- •
- Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Inspiratory crackles- MedGen UID:
- 661427
- •Concept ID:
- C0577961
- •
- Finding
Crackles that are heard during the inspiratory phase.
Nonproductive cough- MedGen UID:
- 163087
- •Concept ID:
- C0850149
- •
- Sign or Symptom
A cough that does not produce phlegm or mucus.
Decreased DLCO- MedGen UID:
- 892993
- •Concept ID:
- C4073175
- •
- Finding
Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
Usual interstitial pneumonia- MedGen UID:
- 1662563
- •Concept ID:
- C4721509
- •
- Disease or Syndrome
Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Premature graying of hair- MedGen UID:
- 75524
- •Concept ID:
- C0263498
- •
- Finding
Development of gray hair at a younger than normal age.
Short telomere length- MedGen UID:
- 1627435
- •Concept ID:
- C4531138
- •
- Anatomical Abnormality
An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system