From HPO
Pain- MedGen UID:
- 45282
- •Concept ID:
- C0030193
- •
- Sign or Symptom
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Abnormality of thrombocytes- MedGen UID:
- 57492
- •Concept ID:
- C0151854
- •
- Cell or Molecular Dysfunction
An abnormality of platelets.
Abnormal bleeding- MedGen UID:
- 264316
- •Concept ID:
- C1458140
- •
- Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Extramedullary hematopoiesis- MedGen UID:
- 392862
- •Concept ID:
- C2613439
- •
- Disease or Syndrome
The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
Osteopetrosis- MedGen UID:
- 18223
- •Concept ID:
- C0029454
- •
- Finding
Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Abnormal lymph node morphology- MedGen UID:
- 852420
- •Concept ID:
- C0149727
- •
- Finding
A structural lymph node abnormality.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
Petechiae- MedGen UID:
- 10680
- •Concept ID:
- C0031256
- •
- Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Subcutaneous nodule- MedGen UID:
- 101803
- •Concept ID:
- C0151811
- •
- Pathologic Function
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
- Abnormality of blood and blood-forming tissues
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Constitutional symptom