From HPO
Precursor B-cell acute lymphoblastic leukemia- MedGen UID:
- 83896
- •Concept ID:
- C0349636
- •
- Neoplastic Process
A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
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.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Overfolded helix- MedGen UID:
- 325239
- •Concept ID:
- C1837731
- •
- Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Prominent stem of antihelix- MedGen UID:
- 866565
- •Concept ID:
- C4020910
- •
- Anatomical Abnormality
Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
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).
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.
Agammaglobulinemia- MedGen UID:
- 168
- •Concept ID:
- C0001768
- •
- Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
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.
Decreased circulating IgE- MedGen UID:
- 1714318
- •Concept ID:
- C0853668
- •
- Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Partial absence of specific antibody response to tetanus vaccine- MedGen UID:
- 1699537
- •Concept ID:
- C5139460
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Increased proportion of effector memory CD8-positive, alpha-beta T cells- MedGen UID:
- 1690695
- •Concept ID:
- C5139556
- •
- Finding
An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells- MedGen UID:
- 1711089
- •Concept ID:
- C5398016
- •
- Finding
An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Short philtrum- MedGen UID:
- 350006
- •Concept ID:
- C1861324
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Everted upper lip vermilion- MedGen UID:
- 869272
- •Concept ID:
- C4023698
- •
- Finding
Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality
- Neoplasm