From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Wrist pain- MedGen UID:
- 66384
- •Concept ID:
- C0221785
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.
Ankle pain- MedGen UID:
- 116068
- •Concept ID:
- C0238656
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
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.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Bilateral renal atrophy- MedGen UID:
- 868441
- •Concept ID:
- C4022835
- •
- Disease or Syndrome
A two-sided form of atrophy of the kidney.
Ankle swelling- MedGen UID:
- 65906
- •Concept ID:
- C0235439
- •
- Pathologic Function
Ulnar deviation of the hand- MedGen UID:
- 66031
- •Concept ID:
- C0241521
- •
- Finding
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Wrist swelling- MedGen UID:
- 116125
- •Concept ID:
- C0241760
- •
- Finding
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Carpal osteolysis- MedGen UID:
- 318954
- •Concept ID:
- C1833734
- •
- Pathologic Function
Osteolysis affecting carpal bones.
Osteolysis involving tarsal bones- MedGen UID:
- 322262
- •Concept ID:
- C1833735
- •
- Pathologic Function
An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
Metacarpal osteolysis- MedGen UID:
- 343165
- •Concept ID:
- C1854610
- •
- Finding
Metatarsal osteolysis- MedGen UID:
- 344327
- •Concept ID:
- C1854614
- •
- Finding
Osteolysis involving metatarsal bones.
Ulnar deviation of the hand or of fingers of the hand- MedGen UID:
- 892857
- •Concept ID:
- C4048199
- •
- Finding
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Congenital diaphragmatic hernia- MedGen UID:
- 68625
- •Concept ID:
- C0235833
- •
- Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Hypoplasia of the maxilla- MedGen UID:
- 66804
- •Concept ID:
- C0240310
- •
- Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Bilateral elbow dislocations- MedGen UID:
- 480059
- •Concept ID:
- C3278429
- •
- Finding
Triangular face- MedGen UID:
- 324383
- •Concept ID:
- C1835884
- •
- Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom