From HPO
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Dermatan sulfate excretion in urine- MedGen UID:
- 343207
- •Concept ID:
- C1854774
- •
- Finding
An increased concentration of dermatan sulfate in the urine.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Irregular acetabular roof- MedGen UID:
- 331872
- •Concept ID:
- C1834975
- •
- Finding
Aortic regurgitation- MedGen UID:
- 8153
- •Concept ID:
- C0003504
- •
- Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Aortic valve stenosis- MedGen UID:
- 1621
- •Concept ID:
- C0003507
- •
- Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Thickened aortic valve cusp- MedGen UID:
- 1613159
- •Concept ID:
- C4531033
- •
- Anatomical Abnormality
An abnormally increased thickness of a leaflet of the aortic valve.
Hyperlordosis- MedGen UID:
- 9805
- •Concept ID:
- C0024003
- •
- Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Broad clavicles- MedGen UID:
- 98091
- •Concept ID:
- C0426801
- •
- Finding
Increased width (cross-sectional diameter) of the clavicles.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Broad ribs- MedGen UID:
- 336390
- •Concept ID:
- C1848654
- •
- Finding
Increased width of ribs
Posterior scalloping of vertebral bodies- MedGen UID:
- 337993
- •Concept ID:
- C1850196
- •
- Finding
An excessive concavity of the posterior surface of one or more vertebral bodies.
Beaking of vertebral bodies- MedGen UID:
- 341588
- •Concept ID:
- C1856599
- •
- Finding
Anterior tongue-like protrusions of the vertebral bodies.
Spatulate ribs- MedGen UID:
- 344777
- •Concept ID:
- C1856637
- •
- Finding
Ribs that are increased in width and taper to the posterior ends.
Hip dysplasia- MedGen UID:
- 1640560
- •Concept ID:
- C4551649
- •
- Congenital Abnormality
The presence of developmental dysplasia of the hip.
Diastema- MedGen UID:
- 3800
- •Concept ID:
- C0011998
- •
- Finding
Increased space between two adjacent teeth in the same dental arch.
Open bite- MedGen UID:
- 78589
- •Concept ID:
- C0266061
- •
- Congenital Abnormality
Visible space between the dental arches in occlusion.
Widely spaced teeth- MedGen UID:
- 337093
- •Concept ID:
- C1844813
- •
- Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Vitreous floaters- MedGen UID:
- 5217
- •Concept ID:
- C0016242
- •
- Finding
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.
- 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