| HPO |
HP:0005411 |
Chronic intestinal candidiasis |
"Persistent overgrowth of Candida albicans in the gastrointestinal tract." [HPO:probinson] |
— |
HP:0002728 |
| HPO |
HP:0005413 |
Increased alpha-globulin |
"An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant." [PMID:15663032] |
— |
HP:0032311 |
| HPO |
HP:0005415 |
Decreased proportion of CD8-positive T cells |
"A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells." [HPO:probinson] |
— |
HP:0005403, HP:0031393 |
| HPO |
HP:0005416 |
Decreased serum complement factor B |
"A reduced level of the complement component factor B in circulation." [https://emedicine.medscape.com/article/135478-overview] |
— |
HP:0004431 |
| HPO |
HP:0005419 |
Decreased T cell activation |
"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [ISBN:0781735149] |
— |
HP:0410035 |
| HPO |
HP:0005420 |
Recurrent gram-negative bacterial infections |
"Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [HPO:probinson] |
Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. |
HP:0002718 |
| HPO |
HP:0005421 |
Decreased serum complement C3 |
"A reduced level of the complement component C3 in circulation." [https://emedicine.medscape.com/article/135478-overview] |
— |
HP:0004431 |
| HPO |
HP:0005422 |
Absence of CD8-positive T cells |
"Lack of detectible CD8-positive T cells" [] |
— |
HP:0005415 |
| HPO |
HP:0005423 |
Dysfunctional alternative complement pathway |
"An abnormality of the functioning of any aspect of the alternative complement pathway." [] |
— |
HP:0005482 |
| HPO |
HP:0005424 |
Absent specific antibody response |
"Absence of specific immunoglobulins directed against a specific antigen or microorganism." [PMID:17100769] |
— |
HP:0012475 |
| HPO |
HP:0005425 |
Recurrent sinopulmonary infections |
"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [HPO:probinson] |
— |
HP:0002205 |
| HPO |
HP:0005428 |
Severe recurrent varicella |
— |
— |
HP:0004429 |
| HPO |
HP:0005429 |
Recurrent systemic pyogenic infections |
"Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [ORCID:0000-0001-7941-2961] |
— |
HP:0002718 |
| HPO |
HP:0005430 |
Recurrent Neisserial infections |
"Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] |
— |
HP:0005420 |
| HPO |
HP:0005432 |
Transient hypogammaglobulinemia of infancy |
"At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [HPO:probinson] |
— |
HP:0004313 |
| HPO |
HP:0005435 |
Impaired T cell function |
"Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity." [ORCID:0000-0001-7941-2961] |
— |
HP:0011840 |
| HPO |
HP:0005437 |
Recurrent infections in infancy and early childhood |
"Recurrent infections at an early age with improvement in later childhood." [HPO:probinson] |
— |
HP:0002719 |
| HPO |
HP:0005439 |
Maxillozygomatic hypoplasia |
"Hypoplasia of the maxillozygomatic complex." [HPO:probinson] |
— |
HP:0000327, HP:0010669 |
| HPO |
HP:0005441 |
Sclerotic cranial sutures |
"An increased density in the cranial sutures following obliteration." [HPO:curators] |
— |
HP:0011329 |
| HPO |
HP:0005442 |
Widely patent coronal suture |
"The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] |
— |
HP:0011329 |
| HPO |
HP:0005445 |
Enlarged posterior fossa |
"Abnormal increased size of the posterior cranial fossa." [PMID:28295149] |
— |
HP:0000932 |
| HPO |
HP:0005446 |
Obtuse angle of mandible |
"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [HPO:probinson] |
See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle. |
HP:0000277 |
| HPO |
HP:0005449 |
Bridged sella turcica |
— |
— |
HP:0002681 |
| HPO |
HP:0005450 |
Calvarial osteosclerosis |
"An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] |
— |
HP:0005464 |
| HPO |
HP:0005451 |
Decreased cranial base ossification |
— |
— |
HP:0004331 |