From HPO
Kaposi sarcoma- MedGen UID:
- 11321
- •Concept ID:
- C0036220
- •
- Neoplastic Process
A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Amelogenesis imperfecta- MedGen UID:
- 240
- •Concept ID:
- C0002452
- •
- Congenital Abnormality
A developmental dysplasia of the dental enamel.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
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.
Decreased circulating IgA concentration- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Increased circulating IgA concentration- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargement (swelling) of a lymph node.
Abnormal lymphocyte count- MedGen UID:
- 663425
- •Concept ID:
- C0580550
- •
- Finding
Any abnormality in the total number of lymphocytes in the blood.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Increased circulating IgG3 level- MedGen UID:
- 1687845
- •Concept ID:
- C5139254
- •
- Finding
An abnormally increased concentration of the IgG3 subtype in the blood circulation.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Hypoplasia of the iris- MedGen UID:
- 91029
- •Concept ID:
- C0344539
- •
- Congenital Abnormality
Congenital underdevelopment of the iris.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Neoplasm