From HPO
Low back pain- MedGen UID:
- 7389
- •Concept ID:
- C0024031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Osteosarcoma- MedGen UID:
- 10501
- •Concept ID:
- C0029463
- •
- Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Premature arteriosclerosis- MedGen UID:
- 376368
- •Concept ID:
- C1848486
- •
- Disease or Syndrome
Arteriosclerosis occurring at an age that is younger than usual.
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).
Meningioma- MedGen UID:
- 7532
- •Concept ID:
- C0025286
- •
- Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
High pitched voice- MedGen UID:
- 66836
- •Concept ID:
- C0241703
- •
- Finding
An abnormal increase in the pitch (frequency) of the voice.
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.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Reduced bone mineral density- MedGen UID:
- 393152
- •Concept ID:
- C2674432
- •
- Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Convex nasal ridge- MedGen UID:
- 66809
- •Concept ID:
- C0240538
- •
- Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Alopecia of scalp- MedGen UID:
- 658454
- •Concept ID:
- C0574769
- •
- Finding
Bird-like facies- MedGen UID:
- 325243
- •Concept ID:
- C1837758
- •
- Finding
Scleroderma- MedGen UID:
- 3770
- •Concept ID:
- C0011644
- •
- Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Subcutaneous calcification- MedGen UID:
- 120484
- •Concept ID:
- C0263625
- •
- Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Prematurely aged appearance- MedGen UID:
- 346633
- •Concept ID:
- C1857656
- •
- Finding
Progeroid facial appearance- MedGen UID:
- 341830
- •Concept ID:
- C1857710
- •
- Finding
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.
Hypogonadism- MedGen UID:
- 5711
- •Concept ID:
- C0020619
- •
- Disease or Syndrome
A decreased functionality of the gonad.
Retinal degeneration- MedGen UID:
- 48432
- •Concept ID:
- C0035304
- •
- Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality
- Neoplasm