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.
Hypocalciuria- MedGen UID:
- 9381
- •Concept ID:
- C0020599
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
Ketonuria- MedGen UID:
- 56402
- •Concept ID:
- C0162275
- •
- Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Renal phosphate wasting- MedGen UID:
- 335116
- •Concept ID:
- C1845169
- •
- Finding
High urine phosphate in the presence of hypophosphatemia.
Generalized aminoaciduria- MedGen UID:
- 339863
- •Concept ID:
- C1847868
- •
- Finding
An increased concentration of all types of amino acid in the urine.
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.
Subperiosteal bone resorption- MedGen UID:
- 1380263
- •Concept ID:
- C4476534
- •
- Anatomical Abnormality
Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
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.
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hypocalcemic seizures- MedGen UID:
- 340985
- •Concept ID:
- C1855841
- •
- Disease or Syndrome
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
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
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).
Metaphyseal cupping- MedGen UID:
- 323062
- •Concept ID:
- C1837082
- •
- Finding
Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
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.
Reduced subcutaneous adipose tissue- MedGen UID:
- 387876
- •Concept ID:
- C1857657
- •
- Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
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
Abdominal wall muscle weakness- MedGen UID:
- 867169
- •Concept ID:
- C4021527
- •
- Finding
Decreased strength of the abdominal musculature.
Rachitic rosary- MedGen UID:
- 1642285
- •Concept ID:
- C4551565
- •
- Disease or Syndrome
A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Hypocalcemia- MedGen UID:
- 5705
- •Concept ID:
- C0020598
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Elevated circulating parathyroid hormone level- MedGen UID:
- 167805
- •Concept ID:
- C0857973
- •
- Finding
An abnormal increased concentration of parathyroid hormone.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Decreased circulating calcifediol concentration- MedGen UID:
- 868662
- •Concept ID:
- C4023064
- •
- Finding
A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.
Low serum calcitriol- MedGen UID:
- 868663
- •Concept ID:
- C4023065
- •
- Finding
A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
Abnormal blood chloride concentration- MedGen UID:
- 868953
- •Concept ID:
- C4023367
- •
- Finding
An abnormality of chloride homeostasis or concentration in the body.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Delayed eruption of teeth- MedGen UID:
- 68678
- •Concept ID:
- C0239174
- •
- Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Secondary hyperparathyroidism- MedGen UID:
- 9368
- •Concept ID:
- C0020503
- •
- Disease or Syndrome
Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality