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).
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Progressive hearing impairment- MedGen UID:
- 331224
- •Concept ID:
- C1842138
- •
- Finding
A progressive form of hearing impairment.
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).
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Intellectual disability, moderate- MedGen UID:
- 7680
- •Concept ID:
- C0026351
- •
- Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Cerebellar hypoplasia- MedGen UID:
- 120578
- •Concept ID:
- C0266470
- •
- Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Anterior pituitary hypoplasia- MedGen UID:
- 347950
- •Concept ID:
- C1859775
- •
- Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
Abnormality of the sense of smell- MedGen UID:
- 867293
- •Concept ID:
- C4021655
- •
- Finding
An anomaly in the ability to perceive and distinguish scents (odors).
Elevated hemoglobin A1c- MedGen UID:
- 892798
- •Concept ID:
- C4073162
- •
- Finding
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Diabetes mellitus type 1- MedGen UID:
- 41522
- •Concept ID:
- C0011854
- •
- Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.
The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Hypogonadotropic hypogonadism- MedGen UID:
- 82883
- •Concept ID:
- C0271623
- •
- Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones
Central hypothyroidism- MedGen UID:
- 488836
- •Concept ID:
- C0271801
- •
- Disease or Syndrome
A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
Abnormal thyroid-stimulating hormone level- MedGen UID:
- 1384219
- •Concept ID:
- C4476968
- •
- Finding
Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality