|
Failure to thrive secondary to recurrent infections
|
HP_0008866 |
[Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.] |
|
Decreased movement range in interphalangeal joints
|
HP_0006203 |
|
|
Hypermobility of distal interphalangeal joints
|
HP_0006201 |
|
|
Osteolysis of scaphoids
|
HP_0006202 |
|
|
Increased circulating 17 hydroxypregnenolone concentration
|
HP_0033809 |
[Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.] |
|
Abnormal circulating pregnenolone concentration
|
HP_0031187 |
[An abnormality of the concentration of pregnenolone in the blood.] |
|
Spermatocele
|
HP_0033808 |
[A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.] |
|
Absent keratohyalin granules
|
HP_0033807 |
[Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.] |
|
Testicular pain
|
HP_0033839 |
[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.] |
|
Dysphoria
|
HP_0033838 |
[A pervasive state of negatively valenced emotional unease and dissatisfaction along with an inner discomfort that is disproportionate to external circumstances and may include heightened emotional reactivity. It is associated with a mixture of overlapping negative emotions that are difficult to disentangle.] |
|
Single interphalangeal crease of fifth finger
|
HP_0006216 |
[Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.] |
|
Limited mobility of proximal interphalangeal joint
|
HP_0006217 |
|
|
Malaise
|
HP_0033834 |
[A feeling of general discomfort, weakness, or lack of health.] |
|
Elevated circulating sCD25 concentration
|
HP_0033833 |
[The concentration of sCD25 (= soluble CD25, = soluble interleukin-2 receptor alpha-chain, = soluble IL-2 receptor alpha) in the blood circulation is above the upper limit of normal.] |
|
Thin proximal phalanges with broad epiphyses of the hand
|
HP_0006213 |
|
|
Postaxial oligodactyly
|
HP_0006210 |
|
|
(R)-adrenaline
|
CHEBI_28918 |
[The R-enantiomer of adrenaline. It is a hormone secreted by the adrenal glands resulting in the 'fight-or-flight' response.] |
|
Cavitating pulmonary mass
|
HP_0033831 |
[Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.] |
|
Pulmonary mass
|
HP_0033821 |
[A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).] |
|
Hyperdense pulmonary mass
|
HP_0033830 |
[A type of pulmonary mass with high attenuation.] |