From HPO
Fatigue- MedGen UID:
- 41971
- •Concept ID:
- C0015672
- •
- Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Bone pain- MedGen UID:
- 57489
- •Concept ID:
- C0151825
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Multiple lipomas- MedGen UID:
- 677074
- •Concept ID:
- C0745730
- •
- Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Hypocalciuria- MedGen UID:
- 9381
- •Concept ID:
- C0020599
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Multiple small medullary renal cysts- MedGen UID:
- 892386
- •Concept ID:
- C4024644
- •
- Disease or Syndrome
The presence of many cysts in the medulla of the kidney.
Parathormone-independent increased renal tubular calcium reabsorption- MedGen UID:
- 871133
- •Concept ID:
- C4025604
- •
- Finding
An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.
Peptic ulcer- MedGen UID:
- 45384
- •Concept ID:
- C0030920
- •
- Disease or Syndrome
The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.
Depression- MedGen UID:
- 4229
- •Concept ID:
- C0011581
- •
- Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Osteomalacia- MedGen UID:
- 14533
- •Concept ID:
- C0029442
- •
- Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Chondrocalcinosis- MedGen UID:
- 154303
- •Concept ID:
- C0553730
- •
- Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Pancreatitis- MedGen UID:
- 14586
- •Concept ID:
- C0030305
- •
- Disease or Syndrome
The presence of inflammation in the pancreas.
Hypercalcemia- MedGen UID:
- 5686
- •Concept ID:
- C0020437
- •
- Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Hypermagnesemia- MedGen UID:
- 312005
- •Concept ID:
- C1522135
- •
- Finding
An abnormally increased magnesium concentration in the blood.
Primary hyperparathyroidism- MedGen UID:
- 66354
- •Concept ID:
- C0221002
- •
- Disease or Syndrome
A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.
- 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 musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Neoplasm