From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
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.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Lipodystrophy- MedGen UID:
- 6111
- •Concept ID:
- C0023787
- •
- Disease or Syndrome
Degenerative changes of the fat tissue.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Increased circulating IgA level- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
Increased CD4:CD8 ratio- MedGen UID:
- 1614673
- •Concept ID:
- C0920173
- •
- Finding
An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.
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.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Increased circulating IgG level- MedGen UID:
- 347032
- •Concept ID:
- C1858977
- •
- Finding
An abnormally increased level of immunoglobulin G in blood.
Decreased proportion of memory B cells- MedGen UID:
- 893145
- •Concept ID:
- C4072913
- •
- Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Anti-thyroid peroxidase antibody positivity- MedGen UID:
- 1392952
- •Concept ID:
- C4476743
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Neutrophilic infiltration of the skin- MedGen UID:
- 1620481
- •Concept ID:
- C4531258
- •
- Anatomical Abnormality
A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).
Anti-thyroglobulin antibody positivity- MedGen UID:
- 1670955
- •Concept ID:
- C4732836
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
Abnormal circulating IgM level- MedGen UID:
- 1688699
- •Concept ID:
- C5139423
- •
- Finding
An abnormal deviation from normal levels of IgM immunoglobulin in blood.
Anti-beta-2-Glycoprotein I IgG antibody positivity- MedGen UID:
- 1814321
- •Concept ID:
- C5676752
- •
- Laboratory or Test Result
Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Periorbital edema- MedGen UID:
- 56223
- •Concept ID:
- C0151205
- •
- Pathologic Function
Edema affecting the region situated around the orbit of the eye.
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.
Annular cutaneous lesion- MedGen UID:
- 1391698
- •Concept ID:
- C4476833
- •
- Finding
A lesion of the skin with a ring-like distribution.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality