| HPO |
HP:0005328 |
Progeroid facial appearance |
"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [HPO:probinson] |
— |
HP:0007495 |
| HPO |
HP:0005329 |
Fixed facial expression |
— |
— |
HP:0004673 |
| HPO |
HP:0005332 |
Recurrent mandibular subluxations |
"Recurrent partial dislocations of the mandible." [HPO:curators] |
— |
HP:0000277, HP:0032153 |
| HPO |
HP:0005335 |
Sleepy facial expression |
— |
— |
HP:0005324 |
| HPO |
HP:0005336 |
Forehead hyperpigmentation |
— |
— |
HP:0000290, HP:0007400 |
| HPO |
HP:0005338 |
Sparse lateral eyebrow |
"Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [HPO:probinson] |
Abnormal sparseness of the eyebrows laterally. |
HP:0045075 |
| HPO |
HP:0005339 |
Abnormality of complement system |
"An abnormality of the complement system." [HPO:probinson, PMID:19388161] |
The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. |
HP:0005368 |
| HPO |
HP:0005340 |
Spastic/hyperactive bladder |
— |
— |
HP:0000009 |
| HPO |
HP:0005341 |
Autonomic bladder dysfunction |
"Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson] |
— |
HP:0012332 |
| HPO |
HP:0005343 |
Hypoplasia of the bladder |
"Underdevelopment of the urinary bladder." [HPO:probinson] |
— |
HP:0010476 |
| HPO |
HP:0005344 |
Abnormal carotid artery morphology |
"Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches." [] |
— |
HP:0011004 |
| HPO |
HP:0005345 |
Abnormal vena cava morphology |
"An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." [] |
— |
HP:0002624, HP:0030962 |
| HPO |
HP:0005346 |
Abnormal facial expression |
— |
— |
HP:0000271 |
| HPO |
HP:0005347 |
Cartilaginous trachea |
— |
— |
HP:0002778 |
| HPO |
HP:0005348 |
Inspiratory stridor |
"Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] |
— |
HP:0010307 |
| HPO |
HP:0005349 |
Hypoplasia of the epiglottis |
"Hypoplasia of the epiglottis." [HPO:probinson] |
— |
HP:0010565 |
| HPO |
HP:0005352 |
Severe T-cell immunodeficiency |
"A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms." [PMID:18755723] |
Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). |
HP:0005374 |
| HPO |
HP:0005353 |
Recurrent herpes |
"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus." [] |
— |
HP:0004429 |
| HPO |
HP:0005354 |
Lack of T cell function |
"Complete inability of T cells to perform their functions in cell-mediated immunity." [] |
— |
HP:0011840 |
| HPO |
HP:0005356 |
Decreased serum complement factor I |
"A reduced level of the complement component Factor I in circulation." [https://emedicine.medscape.com/article/135478-overview] |
— |
HP:0004431 |
| HPO |
HP:0005357 |
Defective B cell differentiation |
"Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [GO:0030183] |
— |
HP:0005384 |
| HPO |
HP:0005359 |
Aplasia of the thymus |
"Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [HPO:probinson] |
— |
HP:0010515 |
| HPO |
HP:0005360 |
Susceptibility to chickenpox |
"Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox." [] |
— |
HP:0004429 |
| HPO |
HP:0005363 |
Humoral immunodeficiency |
"A general term referring to a defect in immunity resulting from impaired antibody production." [] |
If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. |
HP:0002721 |
| HPO |
HP:0005364 |
obsolete Severe viral infections |
— |
— |
— |