| HPO |
HP:0002828 |
Multiple joint contractures |
— |
— |
HP:0001371 |
| HPO |
HP:0002829 |
Arthralgia |
"Joint pain." [HPO:probinson] |
Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. |
HP:0012531 |
| HPO |
HP:0002831 |
Long coccyx |
— |
— |
HP:0008519 |
| HPO |
HP:0002832 |
Calcific stippling |
"An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [HPO:curators] |
— |
HP:0010766 |
| HPO |
HP:0002833 |
Cystic angiomatosis of bone |
"Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [HPO:probinson, PMID:11930062] |
The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. |
HP:0012062 |
| HPO |
HP:0002834 |
Flared femoral metaphysis |
— |
— |
HP:0006489, HP:0030307 |
| HPO |
HP:0002835 |
Aspiration |
"Inspiration of a foreign object into the airway." [HPO:probinson] |
— |
HP:0002795 |
| HPO |
HP:0002836 |
Bladder exstrophy |
"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [HPO:probinson, PMID:23650202] |
Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. |
HP:0025487, HP:0100548 |
| HPO |
HP:0002837 |
Recurrent bronchitis |
"An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson, ISBN:0199747725, PMID:28261574] |
— |
HP:0002788, HP:0012387, HP:0025426 |
| HPO |
HP:0002839 |
Urinary bladder sphincter dysfunction |
"Abnormal function of a sphincter of the urinary bladder." [HPO:probinson] |
— |
HP:0000009 |
| HPO |
HP:0002840 |
Lymphadenitis |
"Inflammation of a lymph node." [HPO:probinson] |
— |
HP:0002733, HP:0012649 |
| HPO |
HP:0002841 |
Recurrent fungal infections |
"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection." [HPO:probinson] |
— |
HP:0002719, HP:0020100 |
| HPO |
HP:0002842 |
Recurrent Burkholderia cepacia infections |
"Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] |
— |
HP:0005420 |
| HPO |
HP:0002843 |
Abnormal T cell morphology |
"An abnormality of T cells." [HPO:curators] |
T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. |
HP:0004332 |
| HPO |
HP:0002845 |
obsolete Increased proportion of peripheral CD3+ T cells |
— |
— |
— |
| HPO |
HP:0002846 |
Abnormal B cell morphology |
"A structural abnormality of B cells." [HPO:probinson, PMID:18725575] |
B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. |
HP:0004332 |
| HPO |
HP:0002847 |
Impaired memory B cell generation |
"Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [HPO:probinson] |
— |
HP:0005372 |
| HPO |
HP:0002848 |
Decreased specific anti-polysaccharide antibody level |
"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [HPO:probinson] |
Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. |
HP:0012475 |
| HPO |
HP:0002849 |
Absence of lymph node germinal center |
"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [HPO:probinson] |
— |
HP:0002733 |
| HPO |
HP:0002850 |
Decreased circulating total IgM |
"An abnormally decreased level of immunoglobulin M (IgM) in blood." [HPO:probinson] |
— |
HP:0004313, HP:0410243 |
| HPO |
HP:0002851 |
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells |
"An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." [] |
— |
HP:0031399 |
| HPO |
HP:0002853 |
Increased proportion of HLA DR+ T cells |
"An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation." [PMID:11531958] |
— |
HP:0025540 |
| HPO |
HP:0002857 |
Genu valgum |
"The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson] |
— |
HP:0002815, HP:0002979 |
| HPO |
HP:0002858 |
Meningioma |
"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [HPO:probinson] |
— |
HP:0100835 |
| HPO |
HP:0002859 |
Rhabdomyosarcoma |
— |
— |
HP:0009728, HP:0030448 |