From HPO
Asthenia- MedGen UID:
- 2107
- •Concept ID:
- C0004093
- •
- Sign or Symptom
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypoplastic hippocampus- MedGen UID:
- 1388294
- •Concept ID:
- C4476822
- •
- Congenital Abnormality
Underdevelopment of the hippocampus.
Macrocytic anemia- MedGen UID:
- 1920
- •Concept ID:
- C0002886
- •
- Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Megaloblastic anemia- MedGen UID:
- 1527
- •Concept ID:
- C0002888
- •
- Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Anemia of inadequate production- MedGen UID:
- 95937
- •Concept ID:
- C0392708
- •
- Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Thrombocytosis- MedGen UID:
- 163397
- •Concept ID:
- C0836924
- •
- Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Infective arthritis- MedGen UID:
- 13918
- •Concept ID:
- C0003869
- •
- Disease or Syndrome
The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.
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.
Autoimmunity- MedGen UID:
- 2136
- •Concept ID:
- C0004368
- •
- Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Eczema- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Severe combined immunodeficiency disease- MedGen UID:
- 88328
- •Concept ID:
- C0085110
- •
- Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Hypersegmentation of neutrophil nuclei- MedGen UID:
- 870828
- •Concept ID:
- C4025288
- •
- Finding
An excessive division of the lobes of the nucleus of a neutrophil.
Decreased circulating antibody level- MedGen UID:
- 892481
- •Concept ID:
- C4048270
- •
- Finding
An abnormally decreased level of immunoglobulin in blood.
Hyperhomocystinemia- MedGen UID:
- 812677
- •Concept ID:
- C3806347
- •
- Finding
An increased concentration of homocystine in the blood.
Decreased methylcobalamin- MedGen UID:
- 867371
- •Concept ID:
- C4021736
- •
- Finding
Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the ear
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom