From HPO
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Poor appetite- MedGen UID:
- 68562
- •Concept ID:
- C0232462
- •
- Sign or Symptom
A reduced desire to eat.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Emotional lability- MedGen UID:
- 39319
- •Concept ID:
- C0085633
- •
- Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Impaired T cell function- MedGen UID:
- 395415
- •Concept ID:
- C1860127
- •
- Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Recurrent candida infections- MedGen UID:
- 348028
- •Concept ID:
- C1860128
- •
- Finding
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
Low alkaline phosphatase- MedGen UID:
- 349734
- •Concept ID:
- C1860130
- •
- Finding
Abnormally reduced serum levels of alkaline phosphatase.
Decreased serum zinc- MedGen UID:
- 1642863
- •Concept ID:
- C4703561
- •
- Finding
A reduced concentration of zinc in the blood.
Hypogeusia- MedGen UID:
- 57498
- •Concept ID:
- C0151934
- •
- Finding
A decreased ability to perceive flavor.
Alopecia of scalp- MedGen UID:
- 658454
- •Concept ID:
- C0574769
- •
- Finding
Paronychia- MedGen UID:
- 45334
- •Concept ID:
- C0030578
- •
- Disease or Syndrome
The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Perianal erythema- MedGen UID:
- 473350
- •Concept ID:
- C1112161
- •
- Finding
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.
Perioral erythema- MedGen UID:
- 340873
- •Concept ID:
- C1855458
- •
- Finding
Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.
Hypogonadism- MedGen UID:
- 5711
- •Concept ID:
- C0020619
- •
- Disease or Syndrome
A decreased functionality of the gonad.
Decreased serum testosterone concentration- MedGen UID:
- 892974
- •Concept ID:
- C4073137
- •
- Finding
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Growth abnormality