From HPO
Lymphoma- MedGen UID:
- 44223
- •Concept ID:
- C0024299
- •
- Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Decreased urinary urate- MedGen UID:
- 868715
- •Concept ID:
- C4023118
- •
- Finding
Decreased concentration of urate in the urine.
Elevated urinary inosine level- MedGen UID:
- 1052458
- •Concept ID:
- CN376443
- •
- Finding
The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary guanosine level- MedGen UID:
- 1053612
- •Concept ID:
- CN376445
- •
- Finding
The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.
Cerebral vasculitis- MedGen UID:
- 68652
- •Concept ID:
- C0238051
- •
- Disease or Syndrome
Inflammation of the blood vessels within the brain.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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).
Spastic diplegia- MedGen UID:
- 44181
- •Concept ID:
- C0023882
- •
- Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Atypical behavior- MedGen UID:
- 535345
- •Concept ID:
- C0233514
- •
- Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Tetraparesis- MedGen UID:
- 78731
- •Concept ID:
- C0270790
- •
- Finding
Weakness of all four limbs.
Delayed gross motor development- MedGen UID:
- 332508
- •Concept ID:
- C1837658
- •
- Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Pure red-cell aplasia- MedGen UID:
- 11154
- •Concept ID:
- C0034902
- •
- Disease or Syndrome
A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.
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.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Otitis media- MedGen UID:
- 45253
- •Concept ID:
- C0029882
- •
- Disease or Syndrome
Inflammation or infection of the middle ear.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sinusitis- MedGen UID:
- 20772
- •Concept ID:
- C0037199
- •
- Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Neutropenia in presence of anti-neutropil antibodies- MedGen UID:
- 137947
- •Concept ID:
- C0340971
- •
- Disease or Syndrome
A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
Recurrent opportunistic infections- MedGen UID:
- 330439
- •Concept ID:
- C1832324
- •
- Finding
Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
Recurrent viral infections- MedGen UID:
- 332357
- •Concept ID:
- C1837066
- •
- Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Abnormality of B cell physiology- MedGen UID:
- 341411
- •Concept ID:
- C1849242
- •
- Finding
An abnormality of the physiological functioning of B cells.
Impaired T cell function- MedGen UID:
- 395415
- •Concept ID:
- C1860127
- •
- Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Lymph node hypoplasia- MedGen UID:
- 892318
- •Concept ID:
- C4025683
- •
- Finding
Underdevelopment of the lymph nodes.
Decreased lymphocyte proliferation in response to mitogen- MedGen UID:
- 1615224
- •Concept ID:
- C4531166
- •
- Cell or Molecular Dysfunction
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Hypouricemia- MedGen UID:
- 113163
- •Concept ID:
- C0221333
- •
- Finding
An abnormally low level of uric acid in the blood.
Increased circulating inosine concentration- MedGen UID:
- 1784908
- •Concept ID:
- C5539526
- •
- Finding
An increased concentration of inosine in the blood circulation.
Increased circulating guanosine concentration- MedGen UID:
- 1783036
- •Concept ID:
- C5539527
- •
- Finding
Increased concentration of guanosine in the blood circulation.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality
- Neoplasm