From HPO
Ectopic kidney- MedGen UID:
- 68661
- •Concept ID:
- C0238207
- •
- Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Absent radius- MedGen UID:
- 235613
- •Concept ID:
- C1405984
- •
- Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Aplasia of the 1st metacarpal- MedGen UID:
- 333137
- •Concept ID:
- C1838610
- •
- Finding
Absent first metacarpal (long bone) of the hand.
Absent scaphoid- MedGen UID:
- 337748
- •Concept ID:
- C1847189
- •
- Finding
Congenital absence of the scaphoid..
Absent thumb- MedGen UID:
- 480441
- •Concept ID:
- C3278811
- •
- Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Unilateral facial palsy- MedGen UID:
- 868325
- •Concept ID:
- C4022719
- •
- Finding
One-sided weakness of the muscles of facial expression and eye closure.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Chromosome breakage- MedGen UID:
- 91280
- •Concept ID:
- C0376628
- •
- Cell or Molecular Dysfunction
Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
- Abnormal cellular phenotype
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Growth abnormality