From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Vesicoureteral reflux- MedGen UID:
- 21852
- •Concept ID:
- C0042580
- •
- Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007).
Genetic Heterogeneity of Vesicoureteral Reflux
A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Hypoplastic labia majora- MedGen UID:
- 107566
- •Concept ID:
- C0566899
- •
- Finding
Undergrowth of the outer labia.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Cutaneous syndactyly of toes- MedGen UID:
- 320423
- •Concept ID:
- C1834737
- •
- Congenital Abnormality
A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
Absent proximal finger flexion creases- MedGen UID:
- 337954
- •Concept ID:
- C1850048
- •
- Finding
Absence of the proximal interphalangeal flexion creases of the fingers.
Disproportionate shortening of the tibia- MedGen UID:
- 812846
- •Concept ID:
- C3806516
- •
- Finding
Short middle phalanx of the 2nd finger- MedGen UID:
- 867077
- •Concept ID:
- C4021435
- •
- Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
3-4 finger cutaneous syndactyly- MedGen UID:
- 868712
- •Concept ID:
- C4023115
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
Aplasia of the distal phalanges of the toes- MedGen UID:
- 869335
- •Concept ID:
- C4023761
- •
- Finding
Absence of the distal phalanges of the toes.
Triangular tibia- MedGen UID:
- 1612259
- •Concept ID:
- C4531241
- •
- Anatomical Abnormality
A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Neonatal sepsis- MedGen UID:
- 96816
- •Concept ID:
- C0456103
- •
- Disease or Syndrome
Systemic inflammatory response to infection in newborn babies.
Volar fingernail- MedGen UID:
- 1800811
- •Concept ID:
- C5558365
- •
- Anatomical Abnormality
The presence of an extra nail on the palmar (volar, ventral) surface of the finger.
- Abnormality of limbs
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system