From HPO
Azoospermia- MedGen UID:
- 2150
- •Concept ID:
- C0004509
- •
- Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
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).
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Decreased testicular size- MedGen UID:
- 66027
- •Concept ID:
- C0241355
- •
- Finding
Reduced volume of the testicle (the male gonad).
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Anosmia- MedGen UID:
- 1950
- •Concept ID:
- C0003126
- •
- Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Bimanual synkinesia- MedGen UID:
- 473166
- •Concept ID:
- C0454455
- •
- Disease or Syndrome
Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.
Hyposmia- MedGen UID:
- 473584
- •Concept ID:
- C2364082
- •
- Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Hypoplasia of the olfactory bulb- MedGen UID:
- 1388382
- •Concept ID:
- C4477049
- •
- Congenital Abnormality
Underdevelopment of the olfactory bulb.
Aplasia of the olfactory bulb- MedGen UID:
- 1696661
- •Concept ID:
- C5139362
- •
- Congenital Abnormality
Lack of formation (congenital absence) of the olfactory bulb.
Hypogonadism- MedGen UID:
- 5711
- •Concept ID:
- C0020619
- •
- Disease or Syndrome
A decreased functionality of the gonad.
Decreased serum estradiol- MedGen UID:
- 69129
- •Concept ID:
- C0241011
- •
- Finding
A reduction below normal concentration of estradiol in the circulation.
Decreased circulating follicle stimulating hormone concentration- MedGen UID:
- 892977
- •Concept ID:
- C4072889
- •
- Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level- MedGen UID:
- 893008
- •Concept ID:
- C4072890
- •
- Finding
A reduction in the circulating level of luteinizing hormone (LH).
Decreased serum testosterone concentration- MedGen UID:
- 892974
- •Concept ID:
- C4073137
- •
- Finding
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the nervous system