From HPO
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.
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Renal tubular dysfunction- MedGen UID:
- 57484
- •Concept ID:
- C0151747
- •
- Disease or Syndrome
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Renal phosphate wasting- MedGen UID:
- 335116
- •Concept ID:
- C1845169
- •
- Finding
High urine phosphate in the presence of hypophosphatemia.
Calcium nephrolithiasis- MedGen UID:
- 344578
- •Concept ID:
- C1855801
- •
- Finding
The presence of calcium-containing calculi (stones) in the kidneys.
Tibial bowing- MedGen UID:
- 332360
- •Concept ID:
- C1837081
- •
- Finding
A bending or abnormal curvature of the tibia.
Enlargement of the wrists- MedGen UID:
- 325479
- •Concept ID:
- C1838663
- •
- Finding
Enlargement of the ankles- MedGen UID:
- 333151
- •Concept ID:
- C1838664
- •
- Finding
Fibular bowing- MedGen UID:
- 869374
- •Concept ID:
- C4023801
- •
- Anatomical Abnormality
A bending or abnormal curvature of the fibula.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Rickets- MedGen UID:
- 48470
- •Concept ID:
- C0035579
- •
- Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Difficulty standing- MedGen UID:
- 69136
- •Concept ID:
- C0241237
- •
- Sign or Symptom
Hypophosphatemic rickets- MedGen UID:
- 309957
- •Concept ID:
- C1704375
- •
- Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Sparse bone trabeculae- MedGen UID:
- 371538
- •Concept ID:
- C1833324
- •
- Finding
Thin bony cortex- MedGen UID:
- 318844
- •Concept ID:
- C1833325
- •
- Finding
Abnormal thinning of the cortical region of bones.
Bulging epiphyses- MedGen UID:
- 371540
- •Concept ID:
- C1833329
- •
- Finding
A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).
Flat occiput- MedGen UID:
- 332439
- •Concept ID:
- C1837402
- •
- Finding
Reduced convexity of the occiput (posterior part of skull).
Deformed rib cage- MedGen UID:
- 374021
- •Concept ID:
- C1838659
- •
- Anatomical Abnormality
Malformation of the rib cage.
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Bulging of the costochondral junction- MedGen UID:
- 338492
- •Concept ID:
- C1848538
- •
- Finding
Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
Widely patent fontanelles and sutures- MedGen UID:
- 336570
- •Concept ID:
- C1849300
- •
- Finding
An abnormally increased width of the cranial fontanelles and sutures.
Enlargement of the costochondral junction- MedGen UID:
- 346535
- •Concept ID:
- C1857180
- •
- Finding
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Delayed epiphyseal ossification- MedGen UID:
- 351324
- •Concept ID:
- C1865200
- •
- Finding
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Decreased circulating parathyroid hormone level- MedGen UID:
- 1630961
- •Concept ID:
- C0729198
- •
- Finding
An abnormally decreased concentration of parathyroid hormone.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Abnormal circulating calcium concentration- MedGen UID:
- 868059
- •Concept ID:
- C4022450
- •
- Finding
Any deviation from the normal concentration of calcium in the blood circulation.
High serum calcitriol- MedGen UID:
- 1619023
- •Concept ID:
- C4531136
- •
- Finding
An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
High serum calcifediol- MedGen UID:
- 1616110
- •Concept ID:
- C4531137
- •
- Finding
An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality