From HPO
Phosphoethanolaminuria- MedGen UID:
- 1814510
- •Concept ID:
- C5700114
- •
- Finding
An increased level of phosphoethanolamine (synonym
Abnormal foot morphology- MedGen UID:
- 1762829
- •Concept ID:
- C5399834
- •
- Anatomical Abnormality
An abnormality of the skeleton of foot.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Pathologic fracture- MedGen UID:
- 42095
- •Concept ID:
- C0016663
- •
- Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Arthropathy- MedGen UID:
- 7190
- •Concept ID:
- C0022408
- •
- Disease or Syndrome
Any disorder of the joints.
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.
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.
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) .
Increased susceptibility to fractures- MedGen UID:
- 234655
- •Concept ID:
- C1390474
- •
- Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Low alkaline phosphatase- MedGen UID:
- 349734
- •Concept ID:
- C1860130
- •
- Finding
Abnormally reduced serum levels of alkaline phosphatase.
Carious teeth- MedGen UID:
- 8288
- •Concept ID:
- C0011334
- •
- Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Premature loss of primary teeth- MedGen UID:
- 585520
- •Concept ID:
- C0399385
- •
- Disease or Syndrome
Loss of the primary (also known as deciduous) teeth before the usual age.
Premature loss of permanent teeth- MedGen UID:
- 409904
- •Concept ID:
- C1969738
- •
- Finding
Premature loss of the permanent teeth.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system