| HPO |
HP:0002718 |
Recurrent bacterial infections |
"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [HPO:probinson] |
— |
HP:0002719 |
| HPO |
HP:0002719 |
Recurrent infections |
"Increased susceptibility to infections." [HPO:probinson, HPO:skoehler] |
— |
HP:0032101 |
| HPO |
HP:0002720 |
Decreased circulating IgA level |
"Decreased levels of immunoglobulin A (IgA)." [HPO:probinson] |
— |
HP:0004313, HP:0410240 |
| HPO |
HP:0002721 |
Immunodeficiency |
"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] |
— |
HP:0010978 |
| HPO |
HP:0002722 |
Recurrent abscess formation |
"An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [HPO:probinson] |
— |
HP:0002719 |
| HPO |
HP:0002723 |
Absence of bactericidal oxidative respiratory burst in phagocytes |
"An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity." [GO:0045728] |
— |
HP:0010977 |
| HPO |
HP:0002724 |
Recurrent Aspergillus infections |
"An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [HPO:probinson] |
— |
HP:0002841 |
| HPO |
HP:0002725 |
Systemic lupus erythematosus |
"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson] |
This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. |
HP:0002960 |
| HPO |
HP:0002726 |
Recurrent Staphylococcus aureus infections |
"Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [HPO:probinson] |
— |
HP:0007499 |
| HPO |
HP:0002728 |
Chronic mucocutaneous candidiasis |
"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, PMID:20859203] |
The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. |
HP:0011370 |
| HPO |
HP:0002729 |
Follicular hyperplasia |
"Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson, PMID:23281438] |
Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96). |
HP:0002716 |
| HPO |
HP:0002730 |
Chronic noninfectious lymphadenopathy |
"A chronic form of lymphadenopathy that is not related to infection." [HPO:probinson] |
— |
HP:0002716 |
| HPO |
HP:0002731 |
Decreased lymphocyte apoptosis |
"A reduction in the rate of apoptosis in lymphocytes." [HPO:probinson] |
Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. |
HP:0030886 |
| HPO |
HP:0002732 |
Lymph node hypoplasia |
"Underdevelopment of the lymph nodes." [HPO:probinson] |
— |
HP:0002733 |
| HPO |
HP:0002733 |
Abnormality of the lymph nodes |
"A lymph node abnormality." [HPO:probinson] |
— |
HP:0100763 |
| HPO |
HP:0002737 |
Thick skull base |
— |
— |
HP:0002693 |
| HPO |
HP:0002738 |
Hypoplastic frontal sinuses |
"Underdevelopment of frontal sinus." [HPO:probinson] |
— |
HP:0009119 |
| HPO |
HP:0002740 |
Recurrent E. coli infections |
"Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] |
— |
HP:0005420 |
| HPO |
HP:0002741 |
Recurrent Serratia marcescens infections |
"Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [HPO:probinson] |
— |
HP:0005420 |
| HPO |
HP:0002742 |
Recurrent Klebsiella infections |
"Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [HPO:probinson] |
— |
HP:0005420 |
| HPO |
HP:0002743 |
Recurrent enteroviral infections |
"Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [HPO:probinson] |
— |
HP:0004429 |
| HPO |
HP:0002744 |
Bilateral cleft lip and palate |
"Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson] |
— |
HP:0100336, HP:0100337 |
| HPO |
HP:0002745 |
Oral leukoplakia |
"A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, PMID:17944749] |
The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. |
HP:0025125 |
| HPO |
HP:0002747 |
Respiratory insufficiency due to muscle weakness |
— |
— |
HP:0002093, HP:0004347 |
| HPO |
HP:0002748 |
Rickets |
"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700] |
— |
HP:0004349 |