From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Oligospermia- MedGen UID:
- 18162
- •Concept ID:
- C0028960
- •
- Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Unilateral renal atrophy- MedGen UID:
- 316810
- •Concept ID:
- C1827184
- •
- Disease or Syndrome
A unilateral form of atrophy of the kidney.
Renal dysplasia- MedGen UID:
- 760690
- •Concept ID:
- C3536714
- •
- Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Varicose disease- MedGen UID:
- 21827
- •Concept ID:
- C0042345
- •
- Disease or Syndrome
Enlarged and tortuous veins.
Torticollis- MedGen UID:
- 11859
- •Concept ID:
- C0040485
- •
- Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Keloid- MedGen UID:
- 7197
- •Concept ID:
- C0022548
- •
- Acquired Abnormality
An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.
Nephritis- MedGen UID:
- 14328
- •Concept ID:
- C0027697
- •
- Disease or Syndrome
The presence of inflammation affecting the kidney.
Pyelonephritis- MedGen UID:
- 19590
- •Concept ID:
- C0034186
- •
- Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Melanocytic nevus- MedGen UID:
- 14364
- •Concept ID:
- C0027962
- •
- Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system